201 (57.9%)
|
familial visceral amyloidosis
|
Cholestasis
Proteinuria
Splenomegaly
Autosomal dominant inheritance
OMIM:105200
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Monarch
GTR:C0268389
|
201 (57.9%)
|
short-rib thoracic dysplasia 10 with or without polydactyly
|
Cholestasis
Glucose intolerance
Nephronophthisis
Splenomegaly
Autosomal recessive inheritance
An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.
OMIM:615630
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Monarch
GTR:C3810175
|
201 (57.9%)
|
neonatal diabetes mellitus with congenital hypothyroidism
|
Cholestasis
Diabetes mellitus
Polycystic kidney dysplasia
Splenomegaly
Autosomal recessive inheritance
A rare genetic disease characterized by intrauterine growth retardation, permanent neonatal diabetes mellitus, and congenital hypothyroidism. Additional manifestations include congenital glaucoma, hepatic disease (hepatitis, fibrosis, and cirrhosis), polycystic kidneys, exocrine pancreatic dysfunction, sensorineural hearing impairment, developmental delay, and mild facial dysmorphism (such as flat nasal bridge, epicanthal folds, long philtrum, and low-set ears), among others
OMIM:610199
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Monarch
GTR:C1857775
|
201 (57.9%)
|
cranioectodermal dysplasia 2
|
Cholestasis
Hydrops fetalis
Inguinal hernia
Splenomegaly
Autosomal recessive inheritance
Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene.
OMIM:613610
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Monarch
Gene Reviews
GTR:C3150874
|
205 (57.9%)
|
combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
|
Decreased methylcobalamin
Eczema
Megaloblastic anemia
Vomiting
Autosomal recessive inheritance
OMIM:617780
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Monarch
GTR:C4540434
|
205 (57.9%)
|
methylmalonic aciduria and homocystinuria type cblF
|
Feeding difficulties in infancy
Megaloblastic anemia
Methylmalonic acidemia
Skin rash
Autosomal recessive inheritance
A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner.
OMIM:277380
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Monarch
KEGG:H02221
Gene Reviews
|
207 (57.8%)
|
platelet-type bleeding disorder 19
|
Anemia
Menorrhagia
Spontaneous hematomas
Autosomal recessive inheritance
Any isolated hereditary giant platelet disorder in which the cause of the disease is a mutation in the PRKACG gene.
OMIM:616176
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Monarch
GTR:C4015405
|
207 (57.8%)
|
thrombocytopenia 5
|
Anemia
Epistaxis
Petechiae
Autosomal dominant inheritance
Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene.
OMIM:616216
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Monarch
GTR:C4015537
|
207 (57.8%)
|
platelet-type bleeding disorder 16
|
Anemia
Petechiae
Autosomal dominant inheritance
Autosomal recessive inheritance
An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.
OMIM:187800
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Monarch
GTR:C1861195
|
207 (57.8%)
|
recessive dystrophic epidermolysis bullosa
|
Anemia
Conjunctivitis
Fragile skin
Narrow mouth
Autosomal recessive inheritance
Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.
OMIM:226600
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Monarch
Gene Reviews
|
207 (57.8%)
|
PGM3-CDG
|
Erythema
Hemolytic anemia
High palate
Autosomal recessive inheritance
OMIM:615816
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Monarch
GTR:C4014371
|
207 (57.8%)
|
cerebroretinal microangiopathy with calcifications and cysts 1
|
Anemia
Blindness
Retinal telangiectasia
Autosomal recessive inheritance
Any Coats plus syndrome in which the cause of the disease is a mutation in the CTC1 gene.
OMIM:612199
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Monarch
KEGG:H02251
|
213 (57.7%)
|
PMM2-CDG
|
Abnormal subcutaneous fat tissue distribution
Hepatomegaly
Thrombocytosis
Type I transferrin isoform profile
Autosomal recessive inheritance
PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.
OMIM:212065
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Monarch
KEGG:H00118
Gene Reviews
GTR:C0349653
|
214 (57.4%)
|
Schimke immuno-osseous dysplasia
|
Anemia
Hypermelanotic macule
Proteinuria
Transient ischemic attack
Autosomal recessive inheritance
Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.
OMIM:242900
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Monarch
KEGG:H00580
Gene Reviews
GTR:C0877024
|
214 (57.4%)
|
Diamond-Blackfan anemia 1
|
Coarctation of aorta
Congenital hypoplastic anemia
Elevated red cell adenosine deaminase level
Pallor
Reticulocytopenia
Autosomal dominant inheritance
Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS19 gene.
OMIM:105650
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Monarch
KEGG:H00237
Gene Reviews
GTR:C2676137
|
216 (57.3%)
|
mitochondrial DNA depletion syndrome 15 (hepatocerebral type);
|
Abnormality of the coagulation cascade
Ascites
Hypoglycemia
Jaundice
Autosomal recessive inheritance
Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene.
OMIM:617156
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Monarch
Gene Reviews
GTR:C4310690
|
217 (57.2%)
|
blue rubber bleb nevus
|
Abnormality of the liver
Abnormality of the mouth
Iron deficiency anemia
Autosomal dominant inheritance
Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.
OMIM:112200
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Monarch
GTR:C0346072
|
217 (57.2%)
|
nephronophthisis 11
|
Anemia
Hepatic fibrosis
Nephronophthisis
Autosomal recessive inheritance
A nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1.
OMIM:613550
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Monarch
Gene Reviews
GTR:C3150796
|
219 (56.9%)
|
pericardial effusion, chronic
|
Flushing
Polycythemia
Retinal arteriolar tortuosity
Autosomal recessive inheritance
Chronic form of pericardial effusion (disease).
OMIM:260900
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Monarch
GTR:C1850039
|
220 (56.9%)
|
Camurati-Engelmann disease
|
Anemia
Mandibular prognathia
Poor appetite
Reduced subcutaneous adipose tissue
Autosomal dominant inheritance
Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.
OMIM:131300
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Monarch
KEGG:H00434
Gene Reviews
GTR:C0011989
|
221 (56.7%)
|
isolated neonatal sclerosing cholangitis
|
Jaundice
Splenomegaly
Autosomal recessive inheritance
Isolated neonatal sclerosing cholangitis is a rare, genetic, biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice, acholic stools, hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis, ductular proliferation, hepatocellular metallothionein deposits, and intralobular bile-pigment accumulations. Some patients may also have renal disease.
OMIM:617394
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Monarch
GTR:C4479344
|
221 (56.7%)
|
progressive familial intrahepatic cholestasis type 3
|
Jaundice
Splenomegaly
Autosomal recessive inheritance
Heterogeneous
Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood.
OMIM:602347
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Monarch
GTR:C1865643
|
223 (56.6%)
|
methylmalonic acidemia with homocystinuria, type cblJ
|
Anemia
Coarctation of aorta
Inguinal hernia
Methylmalonic acidemia
Autosomal recessive inheritance
OMIM:614857
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Monarch
GTR:C3553915
|
224 (56.6%)
|
Diamond-Blackfan anemia 7
|
Esophagitis
Low levels of vitamin D
Macrocytic anemia
Tetralogy of Fallot
Autosomal dominant inheritance
Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL11 gene.
OMIM:612562
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Monarch
Gene Reviews
GTR:C2675512
|
225 (56.5%)
|
Fanconi anemia complementation group L
|
Anal atresia
Anemia
Cafe-au-lait spot
Chromosome breakage
Autosomal recessive inheritance
Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.
OMIM:614083
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Monarch
Gene Reviews
|
225 (56.5%)
|
Cronkhite-Canada syndrome
|
Anemia
Hyperpigmentation of the skin
Hypokalemia
Vomiting
Sporadic
Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.
OMIM:175500
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Monarch
KEGG:H01874
GTR:C0282207
|
225 (56.5%)
|
Nijmegen breakage syndrome
|
Autoimmune hemolytic anemia
Cafe-au-lait spot
Diarrhea
Dysgammaglobulinemia
Autosomal recessive inheritance
Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.
OMIM:251260
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Monarch
KEGG:H01344
Gene Reviews
GTR:C0398791
GTR:CN860323
|
225 (56.5%)
|
short stature, microcephaly, and endocrine dysfunction
|
Acanthosis nigricans
Anemia
Diabetes mellitus
Inguinal hernia
Autosomal recessive inheritance
OMIM:616541
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Monarch
GTR:C4225288
|
229 (56.4%)
|
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
|
Hepatomegaly
Methylmalonic acidemia
Thrombocytopenia
Autosomal recessive inheritance
Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut-.
OMIM:251000
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Monarch
KEGG:H00174
KEGG:H01400
Gene Reviews
GTR:C1855114
|
230 (56.4%)
|
von Hippel-Lindau disease
|
Abnormality of the liver
Polycythemia
Tinnitus
Autosomal dominant inheritance
Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.
OMIM:193300
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Monarch
KEGG:H00559
Gene Reviews
GTR:C0019562
|
231 (56.3%)
|
optic nerve edema-splenomegaly syndrome
|
Pancytopenia
Splenomegaly
Urticaria
Visual loss
Autosomal dominant inheritance
Optic nerve edema-splenomegaly syndrome is a rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches.
OMIM:614979
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Monarch
GTR:C3554278
|
231 (56.3%)
|
gray platelet syndrome
|
Bruising susceptibility
Menorrhagia
Splenomegaly
Autosomal recessive inheritance
Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by macrothrombocytopenia, myelofibrosis, splenomegaly and typical gray appearance of platelets on Wright stained peripheral blood smear.
OMIM:139090
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Monarch
KEGG:H02097
GTR:C0272302
GTR:C2717750
GTR:CN205641
|
233 (56.0%)
|
TFRC-related combined immunodeficiency
|
Anemia
Chronic oral candidiasis
Conjunctivitis
Decreased circulating antibody level
Autosomal recessive inheritance
OMIM:616740
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Monarch
GTR:C4225219
|
233 (56.0%)
|
thiamine-responsive megaloblastic anemia syndrome
|
Abnormality of the skin
Diabetes mellitus
Sideroblastic anemia
Stroke
Autosomal recessive inheritance
Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.
OMIM:249270
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Monarch
KEGG:H01183
Gene Reviews
|
233 (56.0%)
|
Wiskott-Aldrich syndrome, autosomal dominant form
|
Decreased specific anti-polysaccharide antibody level
Eczema
Hemolytic anemia
Large vessel vasculitis
Autosomal dominant inheritance
Autosomal recessive inheritance
OMIM:600903
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Monarch
GTR:C1833170
|
236 (56.0%)
|
congenital intrinsic factor deficiency
|
Malabsorption
Malabsorption of Vitamin B12
Megaloblastic anemia
Autosomal recessive inheritance
Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.
OMIM:261000
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Monarch
KEGG:H01277
|
236 (56.0%)
|
methylcobalamin deficiency type cblG
|
Decreased methylcobalamin
Feeding difficulties in infancy
Megaloblastic anemia
Autosomal recessive inheritance
Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine.
OMIM:250940
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Monarch
KEGG:H01285
Gene Reviews
|
236 (56.0%)
|
methylmalonic aciduria and homocystinuria type cblC
|
Feeding difficulties in infancy
Megaloblastic anemia
Methylmalonic acidemia
Autosomal recessive inheritance
A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. cblC type methylmalonic acidemia with homocystinuria is caused by mutations in the MMACHC gene (1p36.3) and is transmitted in an autosomal recessive manner.
OMIM:277400
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Monarch
Gene Reviews
GTR:CN205878
|
239 (56.0%)
|
MPI-CDG
|
Abnormal bleeding
Cirrhosis
Hepatomegaly
Type I transferrin isoform profile
Autosomal recessive inheritance
MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).
OMIM:602579
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Monarch
Gene Reviews
|
239 (56.0%)
|
RFT1-CDG
|
Abnormal isoelectric focusing of serum transferrin
Abnormality of the coagulation cascade
Hepatomegaly
Autosomal recessive inheritance
RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).
OMIM:612015
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Monarch
Gene Reviews
GTR:C2677590
|
241 (55.9%)
|
persistent polyclonal B-cell lymphocytosis
|
Decreased circulating total IgM
Hepatomegaly
Lymphocytosis
Splenomegaly
Autosomal dominant inheritance
Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by: chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly.
OMIM:606445
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Monarch
GTR:C1847973
|
241 (55.9%)
|
Farber lipogranulomatosis
|
Hepatomegaly
Joint swelling
Lipogranulomatosis
Splenomegaly
Autosomal recessive inheritance
Farber disease is a rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.
OMIM:228000
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Monarch
KEGG:H00138
Gene Reviews
GTR:C0268255
GTR:CN204335
|
241 (55.9%)
|
Niemann-Pick disease type B
|
Hepatomegaly
Hypertriglyceridemia
Sea-blue histiocytosis
Splenomegaly
Autosomal recessive inheritance
Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea
OMIM:607616
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Monarch
Gene Reviews
GTR:C0268243
|
241 (55.9%)
|
macrocephaly-autism syndrome
|
Decreased circulating antibody level
Hepatomegaly
Lymphopenia
Splenomegaly
Autosomal dominant inheritance
An autosomal dominant disease characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material basis in heterozygous mutation in the PTEN gene on chromosome 10q23.
OMIM:605309
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Monarch
GTR:C1854416
|
241 (55.9%)
|
lymphoproliferative syndrome 2
|
Aplastic anemia
Fever
Hepatomegaly
Splenomegaly
Autosomal recessive inheritance
Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene.
OMIM:615122
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Monarch
GTR:C3554540
|
241 (55.9%)
|
lysosomal acid lipase deficiency
|
Cirrhosis
Hypertriglyceridemia
Splenomegaly
Vacuolated lymphocytes
Autosomal recessive inheritance
Lysosomal acid lipase deficiency is a lipid storage disease that can result in 1) an early-onset severe form, Wolman disease, or 2) a less severe form, cholesteryl ester storage disease, of cholesteryl ester accumulation in the body (liver, spleen, macrophages). Wolman disease is characterized by neonatal abdominal distension, major or even massive hepatosplenomegaly and calcified adrenal glands, cholesteryl ester storage disease presents with microvesicular steatosis leading to hepatomegaly and hypercholesterolaemia with subsequent liver failure and accelerated atherosclerosis.
OMIM:278000
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Monarch
KEGG:H00148
Gene Reviews
|
241 (55.9%)
|
immunodeficiency, common variable, 1
|
Decreased circulating IgA level
Hepatomegaly
Neutropenia in presence of anti-neutropil antibodies
Splenomegaly
Autosomal recessive inheritance
OMIM:607594
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Monarch
KEGG:H00088
GTR:C3149378
|
241 (55.9%)
|
X-linked lymphoproliferative disease due to XIAP deficiency
|
Aplastic anemia
Fever
Hepatomegaly
Splenomegaly
X-linked inheritance
X-linked recessive inheritance
A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2.
OMIM:300635
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Monarch
Gene Reviews
GTR:C1845076
|
241 (55.9%)
|
Gaucher disease type III
|
Decreased beta-glucocerebrosidase level
Hepatomegaly
Splenomegaly
Thrombocytopenia
Autosomal recessive inheritance
Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1.
OMIM:231000
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Monarch
Gene Reviews
|
241 (55.9%)
|
immunodeficiency, common variable, 2
|
Decreased circulating IgA level
Hepatomegaly
Lymphoma
Splenomegaly
Autosomal dominant inheritance
Autosomal recessive inheritance
OMIM:240500
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Monarch
GTR:C3150354
|
241 (55.9%)
|
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1
|
Decreased activity of NADPH oxidase
Granulomatosis
Hepatomegaly
Splenomegaly
Autosomal recessive inheritance
Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF1 gene.
OMIM:233700
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Monarch
Gene Reviews
GTR:C1856251
|
241 (55.9%)
|
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2
|
Decreased activity of NADPH oxidase
Granulomatosis
Hepatomegaly
Splenomegaly
Autosomal recessive inheritance
Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene.
OMIM:233710
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Monarch
Gene Reviews
GTR:C1856245
|
241 (55.9%)
|
granulomatous disease, chronic, X-linked
|
Decreased activity of NADPH oxidase
Granulomatosis
Hepatomegaly
Splenomegaly
X-linked recessive inheritance
OMIM:306400
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Monarch
KEGG:H00098
Gene Reviews
|
241 (55.9%)
|
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative
|
Decreased activity of NADPH oxidase
Granulomatosis
Hepatomegaly
Splenomegaly
Autosomal recessive inheritance
OMIM:233690
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Monarch
Gene Reviews
GTR:C1856255
|
241 (55.9%)
|
Aicardi-Goutieres syndrome 7
|
Hepatomegaly
Increased circulating antibody level
Splenomegaly
Thrombocytopenia
Autosomal dominant inheritance
Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene.
OMIM:615846
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Monarch
Gene Reviews
GTR:C3888244
|
241 (55.9%)
|
tyrosinemia type I
|
Abnormal bleeding
Cirrhosis
Hypoglycemia
Splenomegaly
Autosomal recessive inheritance
Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.
OMIM:276700
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Monarch
KEGG:H00165
Gene Reviews
GTR:C0268490
|
241 (55.9%)
|
sialidosis type 2
|
Hepatomegaly
Proteinuria
Splenomegaly
Vacuolated lymphocytes
Autosomal recessive inheritance
Sialidosis type 2 (ST-2) is a rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.
OMIM:256550
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Monarch
KEGG:H00142
KEGG:H00422
GTR:C3888317
GTR:CN206285
|
241 (55.9%)
|
free sialic acid storage disease, infantile form
|
Hepatomegaly
Hydrops fetalis
Splenomegaly
Vacuolated lymphocytes
Autosomal recessive inheritance
OMIM:269920
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Monarch
KEGG:H00147
Gene Reviews
|
241 (55.9%)
|
autosomal recessive familial Mediterranean fever
|
Hepatomegaly
Leukocytosis
Renal amyloidosis
Splenomegaly
Autosomal recessive inheritance
Autosomal recessive form of familial Mediterranean fever.
OMIM:249100
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Monarch
KEGG:H00288
Gene Reviews
|
241 (55.9%)
|
sarcoidosis, susceptibility to, 1
|
Fever
Hepatomegaly
Pancytopenia
Splenomegaly
Autosomal dominant inheritance
Sporadic
Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene.
OMIM:181000
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Monarch
|
241 (55.9%)
|
H syndrome
|
Diabetes mellitus
Hepatomegaly
Histiocytosis
Splenomegaly
Autosomal recessive inheritance
H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).
OMIM:602782
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Monarch
KEGG:H00815
GTR:C1864445
|
241 (55.9%)
|
alpha-mannosidosis
|
Decreased circulating antibody level
Hepatomegaly
Splenomegaly
Vacuolated lymphocytes
Autosomal recessive inheritance
Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.
OMIM:248500
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Monarch
KEGG:H00139
Gene Reviews
GTR:C0024748
|
263 (55.9%)
|
benign recurrent intrahepatic cholestasis type 2
|
Conjugated hyperbilirubinemia
Hepatomegaly
Jaundice
Autosomal recessive inheritance
OMIM:605479
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Monarch
|
263 (55.9%)
|
benign recurrent intrahepatic cholestasis type 1
|
Conjugated hyperbilirubinemia
Hearing impairment
Hepatomegaly
Intermittent jaundice
Autosomal recessive inheritance
Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity.
OMIM:243300
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Monarch
KEGG:H02192
Gene Reviews
|
263 (55.9%)
|
extrahepatic biliary atresia
|
Hepatomegaly
Increased total bilirubin
Jaundice
A disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow.
OMIM:210500
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Monarch
KEGG:H01855
GTR:C0005411
|
263 (55.9%)
|
multiple acyl-CoA dehydrogenase deficiency
|
Abnormality of the genital system
Hepatomegaly
Hypoglycemia
Jaundice
Autosomal recessive inheritance
A disorder of fatty acid and amino acid oxidation, caused by mutations in ETFDH, ETFA, or ETFB, and is a clinically heterogeneous disorder ranging from a severe neonatal presentation with metabolic acidosis, cardiomyopathy and liver disease, to a mild childhood/adult disease with episodic metabolic decompensation, muscle weakness, and respiratory failure.
OMIM:231680
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Monarch
GTR:C0268596
|
263 (55.9%)
|
Navajo neurohepatopathy
|
Hepatomegaly
Hypoglycemia
Prolonged neonatal jaundice
Recurrent corneal erosions
Autosomal recessive inheritance
OMIM:256810
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Monarch
Gene Reviews
|
263 (55.9%)
|
peroxisome biogenesis disorder 2A (Zellweger)
|
Aminoaciduria
Cryptorchidism
Hepatomegaly
Jaundice
Autosomal recessive inheritance
OMIM:214110
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Monarch
GTR:C3550273
|
263 (55.9%)
|
peroxisome biogenesis disorder 1A (Zellweger)
|
Aminoaciduria
Cryptorchidism
Hepatomegaly
Prolonged neonatal jaundice
Autosomal recessive inheritance
Heterogeneous
OMIM:214100
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Monarch
KEGG:H00205
KEGG:H01342
Gene Reviews
|
270 (55.8%)
|
poikiloderma with neutropenia
|
Elevated serum creatine kinase
Neutropenia
Poikiloderma
Splenomegaly
Autosomal recessive inheritance
A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13.
OMIM:604173
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Monarch
KEGG:H00793
Gene Reviews
|
270 (55.8%)
|
hyperimmunoglobulinemia D with periodic fever
|
Hypermelanotic macule
Increased circulating IgA level
Leukocytosis
Splenomegaly
Autosomal recessive inheritance
Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).
OMIM:260920
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Monarch
KEGG:H00206
GTR:C0398691
|
272 (55.6%)
|
pseudo-TORCH syndrome 2
|
Hepatomegaly
Lactic acidosis
Petechiae
Autosomal recessive inheritance
OMIM:617397
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Monarch
GTR:C4479376
|
272 (55.6%)
|
aspartylglucosaminuria
|
Abnormality of metabolism/homeostasis
Angiokeratoma corporis diffusum
Hepatomegaly
Neutropenia
Autosomal recessive inheritance
Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).
OMIM:208400
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Monarch
KEGG:H00145
GTR:C0268225
|
274 (55.6%)
|
systemic lupus erythematosus (disease)
|
Cutaneous photosensitivity
Hemolytic anemia
Nephritis
Autosomal dominant inheritance
An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific.
OMIM:152700
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Monarch
KEGG:H00080
|
275 (55.3%)
|
Kabuki syndrome 1
|
Cafe-au-lait spot
Coarctation of aorta
Cryptorchidism
Hemolytic anemia
Autosomal dominant inheritance
OMIM:147920
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Monarch
KEGG:H00570
Gene Reviews
GTR:CN030661
|
276 (55.2%)
|
methemoglobinemia type 4
|
Abnormality of metabolism/homeostasis
Cyanosis
Male pseudohermaphroditism
Methemoglobinemia
Autosomal recessive inheritance
Any methemoglobinemia in which the cause of the disease is a mutation in the CYB5A gene.
OMIM:250790
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Monarch
GTR:C2673427
|
277 (55.2%)
|
nephronophthisis 19
|
Cholestasis
Nephronophthisis
Splenomegaly
Autosomal recessive inheritance
Any nephronophthisis in which the cause of the disease is a mutation in the DCDC2 gene.
OMIM:616217
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Monarch
Gene Reviews
GTR:C4015542
|
278 (55.2%)
|
Fanconi anemia complementation group G
|
Abnormality of chromosome stability
Anemia
Multiple cafe-au-lait spots
Neutropenia
Fanconi anemia caused by mutations of the FANCG gene.
OMIM:614082
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Monarch
Gene Reviews
|
278 (55.2%)
|
bone marrow failure syndrome 4
|
Anemia
Decreased circulating antibody level
Dry skin
Eczema
Autosomal recessive inheritance
OMIM:618116
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Monarch
|
278 (55.2%)
|
stiff-person syndrome
|
Anemia
Autoimmunity
Diabetes mellitus
Vitiligo
Sporadic
Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis.
OMIM:184850
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Monarch
GTR:C0085292
|
281 (55.1%)
|
hereditary pediatric Behçet-like disease
|
Colitis
Hemolytic anemia
Recurrent fever
Skin rash
Autosomal dominant inheritance
OMIM:616744
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Monarch
GTR:C4225218
|
281 (55.1%)
|
autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
|
Autoimmune hemolytic anemia
Diabetes mellitus
Diarrhea
Eczema
Autosomal dominant inheritance
Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.
OMIM:614162
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Monarch
GTR:C3279990
|
281 (55.1%)
|
STAT3-related early-onset multisystem autoimmune disease
|
Autoimmune hemolytic anemia
Celiac disease
Diabetes mellitus
Eczema
Autosomal dominant inheritance
OMIM:615952
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Monarch
GTR:C4014795
|
284 (55.1%)
|
DPAGT1-CDG
|
Jaundice
Reduced antithrombin III activity
Type I transferrin isoform profile
Autosomal recessive inheritance
DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).
OMIM:608093
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Monarch
Gene Reviews
GTR:C2931004
|
285 (54.8%)
|
encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency
|
Anemia
Ketonuria
Small nail
Umbilical hernia
Sporadic
OMIM:614520
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Monarch
GTR:C3281106
|
286 (54.7%)
|
phosphoenolpyruvate carboxykinase deficiency, cytosolic
|
Cyanosis
Hepatomegaly
Hypoglycemia
Optic atrophy
Autosomal recessive inheritance
PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian.PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2).
OMIM:261680
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Monarch
|
287 (54.6%)
|
BENTA disease
|
Decreased circulating total IgM
Lymphocytosis
Splenomegaly
Autosomal dominant inheritance
BENTA disease (B cell Expansion with N F-N:B and T cell Anergy) is a very rare congenital immune deficiency disorder. The main symptoms include spleen enlargement (splenomegalia) and frequent ear, sinus, and lung infections early in life. Some patients can present with molluscum contagiosum or chronic Epstein-Barr virus (EBV) infection. Blood exams show alterations of several immune cells with very high numbers of polyclonal B cell lymphocytos (above 2200/N
OMIM:616452
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Monarch
GTR:CN231446
GTR:CN242071
|
287 (54.6%)
|
splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells
|
Cutaneous anergy
Pancytopenia
Splenomegaly
Autosomal dominant inheritance
OMIM:183350
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Monarch
GTR:C1866744
|
287 (54.6%)
|
immunodeficiency 14
|
Increased circulating IgM level
Splenomegaly
T lymphocytopenia
Autosomal dominant inheritance
OMIM:615513
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Monarch
KEGG:H01387
|
287 (54.6%)
|
immunodeficiency 36
|
Decreased circulating antibody level
Lymphopenia
Splenomegaly
Autosomal dominant inheritance
OMIM:616005
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Monarch
GTR:C4014934
|
287 (54.6%)
|
periodic fever-infantile enterocolitis-autoinflammatory syndrome
|
Fever
Pancytopenia
Splenomegaly
Autosomal dominant inheritance
OMIM:616050
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Monarch
KEGG:H01748
GTR:C4015067
|
287 (54.6%)
|
lymphedema, hereditary, type III
|
Deep venous thrombosis
Facial edema
Splenomegaly
Autosomal recessive inheritance
OMIM:616843
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Monarch
GTR:C4225184
|
293 (54.6%)
|
glycogen storage disease IXc
|
Bile duct proliferation
Hypotonia
Ketosis
Splenomegaly
Autosomal recessive inheritance
A liver PhK deficiency caused by variants in the PHKG2 gene
OMIM:613027
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Monarch
Gene Reviews
GTR:C2751643
|
293 (54.6%)
|
trichohepatoneurodevelopmental syndrome
|
Cholelithiasis
Elevated alkaline phosphatase
Macroglossia
Splenomegaly
Autosomal recessive inheritance
OMIM:618268
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|
293 (54.6%)
|
Meckel syndrome, type 1
|
Bile duct proliferation
Cryptorchidism
Elevated amniotic fluid alpha-fetoprotein
Splenomegaly
Autosomal recessive inheritance
Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene.
OMIM:249000
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Monarch
KEGG:H00261
GTR:C3714506
|
296 (54.4%)
|
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
|
Cholestasis
Hepatomegaly
Metabolic acidosis
Microcephaly
Autosomal recessive inheritance
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 is a rare, inherited mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by intrauterine growth retardation, metabolic decompensation with recurrent vomiting, persistent severe lactic acidosis, encephalopathy, seizures, failure to thrive, severe global developmental delay, poor eye contact, severe muscular hypotonia or axial hypotonia with limb hypertonia, hepatomegaly and/or liver dysfunction and/or liver failure, leading to fatal outcome in severe cases. Neuroimaging abnormalities may include corpus callosum thinning, leukodystrophy, delayed myelination and basal ganglia involvement.
OMIM:609060
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Monarch
KEGG:H00891
GTR:C1836797
|
296 (54.4%)
|
leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
|
Cholestasis
Cleft palate
Hepatomegaly
Increased serum lactate
Autosomal recessive inheritance
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.
OMIM:614924
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Monarch
GTR:C3554079
|
298 (54.4%)
|
congenital nongoitrous hypothryoidism 6
|
Anemia
Dry skin
Macroglossia
Omphalocele
Autosomal dominant inheritance
Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene.
OMIM:614450
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Monarch
GTR:C3280817
|
298 (54.4%)
|
myelodysplasia, immunodeficiency, facial dysmorphism, short stature, and psychomotor delay
|
Anemia
Steatorrhea
Thin skin
Vesicoureteral reflux
Autosomal recessive inheritance
OMIM:601347
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Monarch
GTR:C1832442
|
298 (54.4%)
|
craniofacial dysplasia - osteopenia syndrome
|
Hypochromic anemia
Inguinal hernia
Preauricular skin tag
Autosomal recessive inheritance
OMIM:611174
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Monarch
KEGG:H02234
GTR:C1970027
|