301 (54.2%)
|
ALG1-CDG
|
Hepatomegaly
Hypogonadism
Splenomegaly
Type I transferrin isoform profile
Autosomal recessive inheritance
A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).
OMIM:608540
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Gene Reviews
GTR:C2931005
|
302 (54.0%)
|
breath-holding Spells
|
Behavioral abnormality
Cyanosis
Iron deficiency anemia
Autosomal dominant inheritance
OMIM:607578
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Monarch
|
303 (53.9%)
|
arteriosclerosis, severe juvenile
|
Abnormality of the skin
Anemia
Arteriosclerosis
Hypertension
Autosomal recessive inheritance
OMIM:208060
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Monarch
GTR:C1859725
|
304 (53.8%)
|
familial benign copper deficiency
|
Anemia
Decreased circulating copper concentration
Seborrheic dermatitis
Autosomal dominant inheritance
X-linked inheritance
Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982.
OMIM:121270
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Monarch
GTR:C1852576
|
304 (53.8%)
|
immunodeficiency, common variable, 12
|
Decreased circulating antibody level
Hemolytic anemia
Recurrent skin infections
Autosomal dominant inheritance
Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB1 gene.
OMIM:616576
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Monarch
GTR:C4225277
|
304 (53.8%)
|
Majeed syndrome
|
Inflammatory abnormality of the skin
Microcytic anemia
Osteomyelitis
Recurrent fever
Autosomal recessive inheritance
Majeed syndrome is a rare genetic multisystemic disorder characterized by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, and variable transient inflammatory dermatosis.
OMIM:609628
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Monarch
KEGG:H01117
Gene Reviews
GTR:C1864997
|
307 (53.8%)
|
thrombocythemia, X-linked
|
Hepatomegaly
Splenomegaly
Thrombocytosis
OMIM:300331
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Monarch
GTR:C1845888
|
307 (53.8%)
|
sea-blue histiocyte syndrome
|
Abnormality of the eye
Cirrhosis
Splenomegaly
Thrombocytopenia
Autosomal recessive inheritance
A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly.
OMIM:269600
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Monarch
KEGG:H01168
Gene Reviews
GTR:C0036489
|
307 (53.8%)
|
hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
|
Portal hypertension
Seizure
Splenomegaly
Venous thrombosis
Autosomal recessive inheritance
The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.
OMIM:610293
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Monarch
KEGG:H01127
KEGG:H01489
GTR:C1853205
GTR:C4510605
|
307 (53.8%)
|
acute erythroleukemia, familial
|
Acute myeloid leukemia
Hepatomegaly
Splenomegaly
Autosomal dominant inheritance
An instance of acute erythroleukemia that is caused by an inherited modification of the individual's genome.
OMIM:133180
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Monarch
|
307 (53.8%)
|
idiopathic hypereosinophilic syndrome
|
Abnormality of the nervous system
Eosinophilia
Hepatomegaly
Splenomegaly
Somatic mutation
Sporadic
OMIM:607685
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Monarch
KEGG:H01599
GTR:C0206141
|
307 (53.8%)
|
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
|
Hepatomegaly
Oral ulcer
Splenomegaly
T lymphocytopenia
Autosomal recessive inheritance
A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has material basis in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31.
OMIM:608971
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Monarch
KEGG:H00091
GTR:C1837028
|
307 (53.8%)
|
primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
|
Hepatomegaly
Lymphoproliferative disorder
Microcephaly
Splenomegaly
Autosomal recessive inheritance
The primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency is characterised by a specific natural-killer (NK) cell deficiency and susceptibility to viral diseases. It has been described in four children from a large inbred kindred. Three out of the four children reported developed a viral illness. The mode of transmission is most likely autosomal recessive. The causative gene has been localised to within a 12-Mb region on chromosome 8p11.23-q11.21.
OMIM:609981
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Monarch
GTR:C1864947
|
307 (53.8%)
|
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
|
Hepatomegaly
Hydrocephalus
Pancytopenia
Splenomegaly
Autosomal recessive inheritance
Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.
OMIM:231005
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Monarch
Gene Reviews
GTR:C1856476
GTR:C2931585
|
307 (53.8%)
|
Aicardi-Goutieres syndrome 4
|
Hepatosplenomegaly
Hydrocephalus
Splenomegaly
Thrombocytopenia
Autosomal recessive inheritance
Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2A gene.
OMIM:610333
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Monarch
Gene Reviews
GTR:C1835912
|
307 (53.8%)
|
Hermansky-Pudlak syndrome 10
|
Hepatomegaly
Microcephaly
Neutropenia
Splenomegaly
Autosomal recessive inheritance
Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene.
OMIM:617050
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Monarch
Gene Reviews
GTR:C4310746
|
307 (53.8%)
|
Roifman syndrome
|
Eosinophilia
Hepatomegaly
Splenomegaly
Thin upper lip vermilion
Autosomal recessive inheritance
OMIM:616651
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Monarch
KEGG:H01575
GTR:C1846059
|
307 (53.8%)
|
Hermansky-Pudlak syndrome 2
|
Hepatomegaly
Splenomegaly
Thin upper lip vermilion
Thrombocytopenia
Autosomal recessive inheritance
Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.
OMIM:608233
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Monarch
Gene Reviews
GTR:C1842362
|
319 (53.7%)
|
Adams-Oliver syndrome 5
|
Aplasia cutis congenita
Inguinal hernia
Portal vein thrombosis
Splenomegaly
Autosomal dominant inheritance
Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene.
OMIM:616028
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Monarch
Gene Reviews
GTR:C4014970
|
319 (53.7%)
|
Proteus syndrome
|
Deep venous thrombosis
Hyperkeratosis
Open mouth
Splenomegaly
Somatic mutation
Sporadic
Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.
OMIM:176920
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Monarch
KEGG:H02119
Gene Reviews
GTR:C0085261
|
321 (53.5%)
|
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
|
Brittle hair
Lactic acidosis
Lymphopenia
Sideroblastic anemia
Autosomal recessive inheritance
Congenital sideroblastic anemia -B cell immunodeficiency- periodic fever-developmental delay syndrome is a form of constitutional sideroblastic anemia, characterized by severe microcytic anemia, B-cell lymphopenia, panhypogammaglobulinemia and variable neurodegeneration. The disease presents in infancy with recurrent febrile illnesses, gastrointestinal disturbances, developmental delay, seizures, ataxia and sensorineural deafness. Most patients require regular blood transfusion, iron chelation, and intravenous immunoglobulin (IVIG) replacement. Stem cell transplantation has been reported to be successful.
OMIM:616084
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Monarch
GTR:C4015172
|
322 (53.5%)
|
orotic aciduria
|
Hematuria
Impaired T cell function
Poikilocytosis
Pyrimidine-responsive megaloblastic anemia
Autosomal recessive inheritance
An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine.
OMIM:258900
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Monarch
KEGG:H00198
|
323 (53.5%)
|
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
|
Anemia
Elliptocytosis
Hypercalciuria
Patent foramen ovale
Renal dysplasia
X-linked recessive inheritance
OMIM:300990
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Monarch
GTR:C4310810
|
324 (53.4%)
|
hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to
|
Abdominal distention
Anemia
Facial edema
Varicose veins
Autosomal dominant inheritance
OMIM:617300
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Monarch
|
324 (53.4%)
|
hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
|
Decreased liver function
Lactic acidosis
Patent ductus arteriosus
Sideroblastic anemia
Autosomal recessive inheritance
OMIM:617021
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Monarch
GTR:C4310761
|
324 (53.4%)
|
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
|
Anemia
Feeding difficulties
Proteinuria
Pulmonary arterial hypertension
Autosomal recessive inheritance
OMIM:613845
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Monarch
GTR:C3151209
|
324 (53.4%)
|
Wolfram syndrome 1
|
Diabetes mellitus
Dysphagia
Megaloblastic anemia
Stroke-like episode
Autosomal recessive inheritance
Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene.
OMIM:222300
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Monarch
KEGG:H00854
Gene Reviews
|
328 (53.2%)
|
pancreatitis, sclerosing cholangitis, and sicca complex
|
Hepatomegaly
Jaundice
Xerostomia
Autosomal recessive inheritance
OMIM:260480
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Monarch
GTR:C1850080
|
328 (53.2%)
|
peroxisome biogenesis disorder 8A (Zellweger)
|
Glossoptosis
Hepatomegaly
Jaundice
Autosomal recessive inheritance
OMIM:614876
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Monarch
GTR:C3553959
|
328 (53.2%)
|
peroxisome biogenesis disorder 7A (Zellweger)
|
Hepatomegaly
High palate
Jaundice
Autosomal recessive inheritance
OMIM:614872
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Monarch
GTR:C3888385
|
328 (53.2%)
|
peroxisome biogenesis disorder 13A (Zellweger)
|
Hepatomegaly
Jaundice
Large fontanelles
Autosomal recessive inheritance
OMIM:614887
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Monarch
GTR:C3554004
|
332 (53.2%)
|
hereditary neutrophilia
|
Elevated leukocyte alkaline phosphatase
Hepatosplenomegaly
Myelodysplasia
Autosomal dominant inheritance
A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has material basis in heterozygous mutation in the CSF3R gene on chromosome 1p34.
OMIM:162830
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Monarch
GTR:C0543669
|
332 (53.2%)
|
severe combined immunodeficiency due to CD70 deficiency
|
Decreased circulating antibody level
Hepatomegaly
Lymphoproliferative disorder
Autosomal recessive inheritance
OMIM:618261
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|
332 (53.2%)
|
combined oxidative phosphorylation deficiency 34
|
Hepatic steatosis
Hepatomegaly
Hypoglycemia
Pancytopenia
Autosomal recessive inheritance
OMIM:617872
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Monarch
|
332 (53.2%)
|
Nezelof syndrome
|
Hepatosplenomegaly
Lymphopenia
Reduced delayed hypersensitivity
Autosomal recessive inheritance
OMIM:242700
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Monarch
GTR:CN206066
|
332 (53.2%)
|
familial hemophagocytic lymphohistiocytosis 5
|
Hemophagocytosis
Hepatosplenomegaly
Recurrent fever
Autosomal recessive inheritance
Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene.
OMIM:613101
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Monarch
Gene Reviews
GTR:C2751293
|
332 (53.2%)
|
peroxisome biogenesis disorder type 3B
|
Abnormal bleeding
Hepatomegaly
Hypocholesterolemia
Autosomal recessive inheritance
A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation.
OMIM:266510
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Monarch
KEGG:H00204
Gene Reviews
|
332 (53.2%)
|
TMEM165-CDG
|
Hepatomegaly
Thrombocytopenia
Unexplained fevers
Autosomal recessive inheritance
TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).
OMIM:614727
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Monarch
Gene Reviews
GTR:C3553571
|
332 (53.2%)
|
glycogen storage disease due to glucose-6-phosphatase deficiency type IA
|
Abnormal bleeding
Hepatocellular carcinoma
Hepatomegaly
Proteinuria
Autosomal recessive inheritance
Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency.
OMIM:232200
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Monarch
KEGG:H00069
KEGG:H01760
KEGG:H01939
Gene Reviews
GTR:C2919796
GTR:CN069618
GTR:CN205860
|
332 (53.2%)
|
carnitine palmitoyl transferase II deficiency, neonatal form
|
Antenatal intracerebral hemorrhage
Hepatomegaly
Macrovesicular hepatic steatosis
Nonketotic hypoglycemia
Autosomal recessive inheritance
The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency, an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.
OMIM:608836
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Monarch
Gene Reviews
GTR:C1833518
|
332 (53.2%)
|
Greenberg dysplasia
|
Extramedullary hematopoiesis
Hepatosplenomegaly
Nonimmune hydrops fetalis
Autosomal recessive inheritance
A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.
OMIM:215140
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Monarch
KEGG:H00447
GTR:C2931048
GTR:CN199524
|
342 (53.1%)
|
methemoglobinemia due to deficiency of methemoglobin reductase
|
Cyanosis
Microcephaly
Polycythemia
Autosomal recessive inheritance
OMIM:250800
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Monarch
KEGG:H00235
|
343 (53.1%)
|
epidermolysis bullosa simplex with muscular dystrophy
|
Anemia
Keratitis
Palmoplantar hyperkeratosis
Autosomal recessive inheritance
Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized blistering associated with muscular dystrophy.
OMIM:226670
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Monarch
GTR:C2931072
|
343 (53.1%)
|
WT limb-blood syndrome
|
Cryptorchidism
Hypoplastic anemia
Irregular hyperpigmentation
Leukemia
Autosomal dominant inheritance
WT limb-blood syndrome is characterised by haematological anomalies (Fanconi anaemia, leukaemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant.
OMIM:194350
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Monarch
GTR:C1327917
|
345 (53.0%)
|
combined immunodeficiency due to CD3gamma deficiency
|
Abnormal intestine morphology
Autoimmune hemolytic anemia
Eczema
Recurrent otitis media
Autosomal recessive inheritance
Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations.
OMIM:615607
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Monarch
GTR:C3810107
GTR:C4510864
|
345 (53.0%)
|
cartilage-hair hypoplasia
|
Brachycephaly
Macrocytic anemia
Malabsorption
Neoplasm of the skin
Autosomal recessive inheritance
Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.
OMIM:250250
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Monarch
KEGG:H01966
Gene Reviews
GTR:C0220748
|
347 (53.0%)
|
congenital generalized lipodystrophy type 3
|
Diabetes mellitus
Primary amenorrhea
Reduced subcutaneous adipose tissue
Splenomegaly
Autosomal recessive inheritance
Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the CAV1 gene.
OMIM:612526
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Monarch
GTR:C2675861
|
347 (53.0%)
|
hemochromatosis type 1
|
Azoospermia
Diabetes mellitus
Splenomegaly
Telangiectasia
Autosomal recessive inheritance
Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease
OMIM:235200
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Monarch
KEGG:H00211
Gene Reviews
GTR:CN242134
|
347 (53.0%)
|
congenital generalized lipodystrophy type 1
|
Hyperinsulinemia
Labial hypertrophy
Reduced subcutaneous adipose tissue
Splenomegaly
Autosomal recessive inheritance
Heterogeneous
Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the AGPAT2 gene.
OMIM:608594
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Monarch
Gene Reviews
|
347 (53.0%)
|
congenital generalized lipodystrophy type 2
|
Hyperinsulinemia
Labial hypertrophy
Reduced subcutaneous adipose tissue
Splenomegaly
Autosomal recessive inheritance
Heterogeneous
Any congenital generalized lipodystrophy in which the cause of the disease is a mutation in the BSCL2 gene.
OMIM:269700
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Monarch
KEGG:H00419
Gene Reviews
|
347 (53.0%)
|
Cockayne syndrome type 1
|
Cryptorchidism
Cutaneous photosensitivity
Proteinuria
Splenomegaly
Autosomal recessive inheritance
Heterogeneous
Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8.
OMIM:216400
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Monarch
KEGG:H00076
Gene Reviews
GTR:C0751039
|
347 (53.0%)
|
Cockayne syndrome type 2
|
Cryptorchidism
Cutaneous photosensitivity
Proteinuria
Splenomegaly
Autosomal recessive inheritance
Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6.
OMIM:133540
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Monarch
Gene Reviews
GTR:C0751038
|
353 (52.7%)
|
Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
|
Epicanthus
Feeding difficulties
Macrocytic anemia
Sparse and thin eyebrow
Autosomal dominant inheritance
Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS28 gene.
OMIM:606164
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Monarch
GTR:C1853576
GTR:C4225411
|
353 (52.7%)
|
specific granule deficiency 2
|
Anemia
Diarrhea
Hirsutism
Low-set ears
Autosomal recessive inheritance
Specific granule deficiency-2 is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include hypercellularity, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and most patients die in early childhood unless they undergo hematopoietic stem cell transplantation. Some patients may have additional findings, including delayed development, mild dysmorphic features, and distal skeletal anomalies (summary by {2:Witzel et al., 2017}).nnFor a discussion of genetic heterogeneity of SGD, see SGD1 (OMIM:245480).
OMIM:617475
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Monarch
GTR:C4479548
|
355 (52.5%)
|
intrinsic factor and r binder, combined congenital deficiency of
|
Abnormality of metabolism/homeostasis
Absence of intrinsic factor
Megaloblastic anemia
Autosomal recessive inheritance
OMIM:243320
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Monarch
GTR:C1855721
|
355 (52.5%)
|
porphyria due to ALA dehydratase deficiency
|
Elevated urinary delta-aminolevulinic acid
Hemolytic anemia
Vomiting
Autosomal recessive inheritance
Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria characterized by neuro-visceral attacks without cutaneous manifestations.
OMIM:612740
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Monarch
|
355 (52.5%)
|
generalized juvenile polyposis/juvenile polyposis coli
|
Abdominal pain
Anemia
Hypokalemia
OMIM:174900
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Monarch
KEGG:H01023
Gene Reviews
GTR:CN204230
|
355 (52.5%)
|
Fanconi anemia complementation group B
|
Abnormality of chromosome stability
Anemia
Tracheoesophageal fistula
X-linked recessive inheritance
Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.
OMIM:300514
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Monarch
Gene Reviews
GTR:C1845292
|
355 (52.5%)
|
pyridoxal phosphate-responsive seizures
|
Anemia
Feeding difficulties in infancy
Metabolic acidosis
Autosomal recessive inheritance
Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.
OMIM:610090
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Monarch
KEGG:H01124
GTR:C1864723
|
355 (52.5%)
|
transcobalamin II deficiency
|
Decreased circulating IgA level
Macrocytic anemia
Reticulocytopenia
Vomiting
Autosomal recessive inheritance
Transcobalamin deficiency (TC) is a disorder of cobalamin transport that usually presents during the first few months of life and is characterized by megaloblastic anemia, failure to thrive, vomiting, weakness and pancytopenia.
OMIM:275350
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Monarch
KEGG:H01190
GTR:C0342701
|
355 (52.5%)
|
Lesch-Nyhan syndrome
|
Hyperuricemia
Megaloblastic anemia
Vomiting
X-linked recessive inheritance
Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.
OMIM:300322
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Monarch
KEGG:H00194
Gene Reviews
GTR:C0023374
GTR:CN205196
|
355 (52.5%)
|
combined oxidative phosphorylation defect type 14
|
Anemia
Feeding difficulties
Increased serum lactate
Autosomal recessive inheritance
Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the FARS2 gene.
OMIM:614946
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Monarch
Gene Reviews
GTR:C3554168
|
355 (52.5%)
|
coenzyme Q10 deficiency, primary, 1
|
Anemia
Hepatic failure
Lactic acidosis
Autosomal recessive inheritance
Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene.
OMIM:607426
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Monarch
KEGG:H00999
Gene Reviews
GTR:C3551954
|
355 (52.5%)
|
alpha thalassemia-X-linked intellectual disability syndrome
|
Abnormality of metabolism/homeostasis
Hypochromic microcytic anemia
Umbilical hernia
X-linked dominant inheritance
X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.
OMIM:301040
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Monarch
KEGG:H01752
Gene Reviews
GTR:C1845055
|
365 (52.5%)
|
Felty syndrome
|
Neutropenia
Rheumatoid arthritis
Splenomegaly
Autosomal dominant inheritance
Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections.
OMIM:134750
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Monarch
GTR:C0015773
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366 (52.3%)
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Cornelia de Lange syndrome 1
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Cutis marmorata
Duplication of internal organs
Proteinuria
Thrombocytopenia
Autosomal dominant inheritance
Sporadic
Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene.
OMIM:122470
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Monarch
KEGG:H00631
Gene Reviews
GTR:CN029798
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367 (52.2%)
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nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome
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Nephritis
Nephropathy
Pretibial blistering
Reduced beta/alpha synthesis ratio
Autosomal recessive inheritance
OMIM:609057
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Monarch
KEGG:H00928
GTR:C1836823
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368 (52.2%)
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GM1 gangliosidosis type 2
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Abnormality of the liver
Abnormality of the spleen
Decreased beta-galactosidase activity
Sea-blue histiocytosis
Autosomal recessive inheritance
GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis characterized by normal early development and psychomotor regression between seven months and three years of age.
OMIM:230600
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Monarch
Gene Reviews
|
369 (52.0%)
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developmental and epileptic encephalopathy, 50
|
Abnormal glycosylation
Acanthocytosis
Anemia
Global developmental delay
Autosomal recessive inheritance
OMIM:616457
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Monarch
GTR:C4225320
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370 (51.9%)
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Halothane hepatitis
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Eosinophilia
Fever
Jaundice
Autosomal recessive inheritance
Multifactorial inheritance
OMIM:234350
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Monarch
GTR:C0241913
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370 (51.9%)
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cholestasis, progressive familial intrahepatic, 5
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Edema
Jaundice
Prolonged prothrombin time
Autosomal recessive inheritance
Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene.
OMIM:617049
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Monarch
GTR:C4310747
GTR:CN776839
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370 (51.9%)
|
infantile liver failure syndrome 2
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Abnormality of the coagulation cascade
Hypoglycemia
Jaundice
Autosomal recessive inheritance
Any infantile liver failure in which the cause of the disease is a mutation in the NBAS gene.
OMIM:616483
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Monarch
GTR:CN232144
|
370 (51.9%)
|
visceral steatosis, congenital
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Abnormal bleeding
Hypoglycemia
Jaundice
Autosomal recessive inheritance
OMIM:228100
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Monarch
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370 (51.9%)
|
neonatal hemochromatosis
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Abnormal bleeding
Cirrhosis
Nonimmune hydrops fetalis
Prolonged neonatal jaundice
Autosomal recessive inheritance
Neonatal hemochromatosis is a disease in which too much iron builds up inthe body. In this form of hemochromatosis the iron overload begins before birth. This disease tends to progress rapidly and is characterized by liver damage that is apparent at birth or in the first day of life. There are a number of other forms of hemochromatosis. To learn more about these other forms click on the disease names listed below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4
OMIM:231100
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Monarch
GTR:C0268059
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370 (51.9%)
|
arthrogryposis, renal dysfunction, and cholestasis 1
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Abnormal bleeding
Jaundice
Metabolic acidosis
Autosomal recessive inheritance
Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene.
OMIM:208085
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Monarch
KEGG:H00950
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376 (51.8%)
|
developmental and epileptic encephalopathy, 36
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Hepatomegaly
Hydrocephalus
Type I transferrin isoform profile
X-linked inheritance
X-linked recessive inheritance
X-linked dominant inheritance
OMIM:300884
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Monarch
GTR:C3550904
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377 (51.7%)
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renal-hepatic-pancreatic dysplasia 2
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Cholestasis
Enlarged kidney
Hepatomegaly
Autosomal recessive inheritance
Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene.
OMIM:615415
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Monarch
GTR:C3809434
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377 (51.7%)
|
NPHP3-related Meckel-like syndrome
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Cholestasis
Hepatosplenomegaly
Multicystic kidney dysplasia
Autosomal recessive inheritance
OMIM:267010
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Monarch
GTR:C2673885
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377 (51.7%)
|
renal-hepatic-pancreatic dysplasia 1
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Cholestasis
Hepatomegaly
Renal insufficiency
Autosomal recessive inheritance
Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene.
OMIM:208540
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Monarch
KEGG:H00543
GTR:C3715199
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377 (51.7%)
|
d-bifunctional protein deficiency
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Cholestasis
Hepatomegaly
Renal cyst
Autosomal recessive inheritance
D-bifunctional protein deficiency (DBP deficiency)is a genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease.
OMIM:261515
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Monarch
KEGG:H02098
GTR:C0342870
GTR:C1533628
GTR:CN203333
|
381 (51.7%)
|
DDX41-related hematologic malignancy predisposition syndrome
|
Eczema
Refractory anemia
Autosomal dominant inheritance
Any hereditary neoplastic syndrome in which the cause of the disease is a mutation in the DDX41 gene.
OMIM:616871
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Monarch
|
382 (51.4%)
|
developmental and epileptic encephalopathy, 66
|
Anemia
Cryptorchidism
Neutropenia
Synophrys
Autosomal dominant inheritance
OMIM:618067
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Monarch
GTR:CN252658
|
383 (51.4%)
|
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
|
Elliptocytosis
Macrocytic anemia
Neutropenia
Thrombocytopenia
X-linked recessive inheritance
OMIM:300835
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Monarch
|
384 (51.2%)
|
ataxia-telangiectasia with generalized skin pigmentation and early death
|
Abnormality of the thymus
Conjunctival telangiectasia
Glucose intolerance
Leukemia
Autosomal recessive inheritance
OMIM:208910
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Monarch
GTR:C1859615
|
384 (51.2%)
|
ataxia telangiectasia
|
Conjunctival telangiectasia
Diabetes mellitus
Hypoplasia of the thymus
Leukemia
Autosomal recessive inheritance
Ataxia-telangiectasia is the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with progressive cerebellar ataxia. It is characterised by neurological signs, telangiectasias, increased susceptibility to infections and a higher risk of cancer.
OMIM:208900
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Monarch
KEGG:H00064
KEGG:H00094
Gene Reviews
GTR:C0004135
|
386 (51.1%)
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Caroli disease
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Cholangitis
Hepatomegaly
Portal hypertension
Recurrent fever
Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts.
OMIM:600643
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Monarch
GTR:C0162510
GTR:C1833541
|
386 (51.1%)
|
mitochondrial DNA depletion syndrome 4a
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Bile duct proliferation
Hepatomegaly
Increased serum lactate
Visual loss
Autosomal recessive inheritance
Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.
OMIM:203700
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Monarch
KEGG:H01389
Gene Reviews
GTR:C0205710
|
386 (51.1%)
|
cranioectodermal dysplasia 1
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Hepatomegaly
High palate
Hypocalcemia
Malformation of the hepatic ductal plate
Autosomal recessive inheritance
Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene.
OMIM:218330
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Monarch
KEGG:H00529
Gene Reviews
|
389 (51.1%)
|
familial isolated congenital asplenia
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Abnormality of metabolism/homeostasis
Asplenia
Thrombocytosis
Autosomal dominant inheritance
Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.
OMIM:271400
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Monarch
KEGG:H01435
|
390 (51.0%)
|
ALG2-CDG
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Abnormality of coagulation
Hepatomegaly
Visual impairment
Autosomal recessive inheritance
A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive.
OMIM:607906
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Monarch
Gene Reviews
|
390 (51.0%)
|
Dorfman-Chanarin disease
|
Abnormality of blood and blood-forming tissues
Everted lower lip vermilion
Hepatic steatosis
Hepatomegaly
Autosomal recessive inheritance
OMIM:275630
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Monarch
KEGG:H00736
|
390 (51.0%)
|
Aicardi-Goutieres syndrome 3
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Hepatosplenomegaly
Progressive microcephaly
Thrombocytopenia
Autosomal recessive inheritance
Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the RNASEH2C gene.
OMIM:610329
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Monarch
Gene Reviews
GTR:C1835916
|
393 (50.8%)
|
mitochondrial complex III deficiency nuclear type 1
|
Abnormality of the coagulation cascade
Cholestasis
Metabolic acidosis
Autosomal recessive inheritance
Mitochondrial inheritance
Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the BCS1L gene.
OMIM:124000
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Monarch
KEGG:H02086
|
394 (50.5%)
|
lethal congenital glycogen storage disease of heart
|
Ascites
Cyanosis
Macroglossia
Neonatal hypoglycemia
Autosomal dominant inheritance
Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene.
OMIM:261740
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Monarch
KEGG:H01956
GTR:C1849813
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395 (50.4%)
|
hereditary folate malabsorption
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Diarrhea
Folate-responsive megaloblastic anemia
Oral ulcer
Autosomal recessive inheritance
Hereditary folate malabsorption (HFM) is an inherited disorder of folate transport characterized by a systemic and central nervous system (CNS) folate deficiency manifesting as megaloblastic anemia, failure to thrive, diarrhea and/or oral mucositis, immunologic dysfunction and neurological disorders.
OMIM:229050
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Monarch
KEGG:H01252
Gene Reviews
GTR:C0342705
|
395 (50.4%)
|
chromosome 15q25 deletion syndrome
|
Inguinal hernia
Macrocytic anemia
Autosomal dominant inheritance
OMIM:614294
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Monarch
GTR:C3280355
|
397 (50.0%)
|
Roberts-SC phocomelia syndrome
|
Accessory spleen
Biliary tract abnormality
Cryptorchidism
Premature separation of centromeric heterochromatin
Autosomal recessive inheritance
A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities.
OMIM:268300
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Monarch
KEGG:H00572
Gene Reviews
|
398 (49.9%)
|
familial apolipoprotein C-II deficiency
|
Hepatomegaly
Hypertriglyceridemia
Lipemia retinalis
Splenomegaly
Autosomal recessive inheritance
OMIM:207750
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Monarch
GTR:C0268199
GTR:C1720779
|
398 (49.9%)
|
hyperlipoproteinemia, type 1D
|
Hepatomegaly
Hyperlipoproteinemia
Lipemia retinalis
Splenomegaly
Autosomal recessive inheritance
Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene.
OMIM:615947
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Monarch
GTR:C4014767
|
398 (49.9%)
|
splenoportal vascular anomalies
|
Cirrhosis
Diabetes mellitus
Splenomegaly
Autosomal recessive inheritance
OMIM:271500
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Monarch
|