489
(46.4%)

hereditary sclerosing poikiloderma with tendon and pulmonary involvement

Cataract Elevated serum creatine kinase Hepatomegaly

Autosomal dominant inheritance

Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.

489
(46.4%)

medium chain acyl-CoA dehydrogenase deficiency

Hepatic steatosis Hepatomegaly Metabolic acidosis Seizure

Autosomal recessive inheritance

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.

489
(46.4%)

mitochondrial complex 1 deficiency, nuclear type 3

Hepatomegaly Metabolic acidosis Seizure

Autosomal recessive inheritance

489
(46.4%)

Leber congenital amaurosis 1

Hepatomegaly Hyperthreoninuria Sensorineural hearing impairment

Autosomal recessive inheritance

Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GUCY2D gene.

489
(46.4%)

pyruvate carboxylase deficiency disease

Hepatomegaly Hypoglycemia Intellectual disability

Autosomal recessive inheritance

Pyruvate carboxylase (PC) deficiency is a rare neurometabolic disorder characterized by metabolic acidosis, failure to thrive, developmental delay, and recurrent seizures at an early age in severely affected patients.

489
(46.4%)

mitochondrial complex 1 deficiency, nuclear type 11

Hepatomegaly Macrovesicular hepatic steatosis Metabolic acidosis Retinopathy

Autosomal recessive inheritance

489
(46.4%)

polyglucosan body myopathy 1 with or without immunodeficiency

Elevated serum creatine kinase Hepatomegaly Ptosis

Autosomal recessive inheritance

489
(46.4%)

pyruvate dehydrogenase E3 deficiency

Hepatomegaly Metabolic acidosis Microcephaly

Autosomal recessive inheritance

Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease.

489
(46.4%)

D,L-2-hydroxyglutaric aciduria

Hepatomegaly L-2-hydroxyglutaric aciduria Microcephaly

Autosomal recessive inheritance

D,L-2-hydroxyglutaric aciduria is a rare inborn error of metabolism characterized by severe neonatal epileptic encephalopathy, episodes of apnea and respiratory distress, severe global developmental delay or absent psychomotor development, severe muscular hypotonia or absent voluntary movements, feeding difficulties and failure to thrive, absence of visual contact, abnormal brain morphology (including cerebral atrophy, ventriculomegaly and hypoplasia or dysplasia of the corpus callosum), mild dysmorphic features (frontal bossing, hypertelorism, downslanting palpebral fissures, flat nasal bridge), elevated CSF and plasma lactate and urinary Krebs cycle metabolites.

489
(46.4%)

very long chain acyl-CoA dehydrogenase deficiency

Hepatic steatosis Hepatomegaly Hypotonia Nonketotic hypoglycemia

Autosomal recessive inheritance

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.

489
(46.4%)

glycogen storage disease due to glycogen branching enzyme deficiency

Cirrhosis Edema Hepatosplenomegaly

Autosomal recessive inheritance

Glycogen branching enzyme (GBE) deficiency (Andersen's disease or amylopectinosis), or glycogen storage disease type 4 (GSD4), is a rare and severe form of glycogen storage disease which accounts for approximately 3% of all the glycogen storage diseases.

489
(46.4%)

trichohepatoenteric syndrome 2

Cirrhosis Decreased serum iron Hepatomegaly Hypertelorism

Autosomal recessive inheritance

Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the SKIV2L gene.

489
(46.4%)

mitochondrial complex V (ATP synthase) deficiency, nuclear type 1

Cryptorchidism Hepatomegaly Hyperammonemia

Autosomal recessive inheritance

Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene.

489
(46.4%)

combined oxidative phosphorylation defect type 4

Hepatomegaly Metabolic acidosis Microcephaly

Autosomal recessive inheritance

Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.

489
(46.4%)

glycogen storage disease III

Hepatic fibrosis Hepatomegaly Hypoglycemia Thin upper lip vermilion

Autosomal recessive inheritance

Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.

489
(46.4%)

peroxisome biogenesis disorder 1B

Cirrhosis Hepatomegaly Hyperoxaluria Renal cyst

Autosomal recessive inheritance

489
(46.4%)

mitochondrial pyruvate carrier deficiency

Hepatomegaly Hypoglycemia Thin upper lip vermilion

Autosomal recessive inheritance

An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation.

489
(46.4%)

glutaryl-CoA dehydrogenase deficiency

Hepatomegaly Macrocephaly Metabolic acidosis

Autosomal recessive inheritance

Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.

489
(46.4%)

combined oxidative phosphorylation deficiency 33

Hepatomegaly Metabolic acidosis Nephrotic syndrome

Autosomal recessive inheritance

489
(46.4%)

severe neurodegenerative syndrome with lipodystrophy

Delayed speech and language development Hepatomegaly Hypertriglyceridemia

Autosomal recessive inheritance

489
(46.4%)

T-B+ severe combined immunodeficiency due to gamma chain deficiency

Agammaglobulinemia Hepatomegaly Hypoplasia of the thymus

X-linked recessive inheritance

Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.

489
(46.4%)

carnitine palmitoyl transferase 1A deficiency

Hepatic steatosis Hepatomegaly Renal tubular acidosis Seizure

Autosomal recessive inheritance

Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.

489
(46.4%)

citrullinemia type I

Cirrhosis Hepatomegaly Irritability Respiratory alkalosis

Autosomal recessive inheritance

Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I).

489
(46.4%)

carnitine-acylcarnitine translocase deficiency

Hepatomegaly Hypoglycemia Irritability

Autosomal recessive inheritance

Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.

489
(46.4%)

Sandhoff disease

Abnormal glycosphingolipid metabolism Hepatosplenomegaly Urinary incontinence

Autosomal recessive inheritance

Sandhoff disease is a lysosomal storage disorder from the GM2 gangliosidosis family and is characterised by central nervous system degeneration.

489
(46.4%)

proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome

Diabetes mellitus Hepatomegaly Polyuria

Mitochondrial inheritance

Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome is characterised by onset of proximal tubulopathy in the first year of life, followed by progressive development during childhood of skin anomalies (erythrocyanosis and abnormal pigmentation), blindness, osteoporosis, cerebellar ataxia, mitochondrial myopathy, deafness and diabetes mellitus.

489
(46.4%)

systemic primary carnitine deficiency disease

Hepatic steatosis Hepatomegaly Hypoglycemia Hypotonia

Autosomal recessive inheritance

Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.

489
(46.4%)

mitochondrial myopathy with reversible cytochrome C oxidase deficiency

Hepatomegaly Increased serum lactate Macroglossia

Mitochondrial inheritance

489
(46.4%)

MOGS-CDG

Abnormality of metabolism/homeostasis Hepatomegaly High palate

Autosomal recessive inheritance

MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).

489
(46.4%)

peroxisome biogenesis disorder 4B

Hepatomegaly Recurrent fever Ureterocele

Autosomal dominant inheritance Autosomal recessive inheritance

489
(46.4%)

argininosuccinic aciduria

Hepatic fibrosis Hepatomegaly Irritability Respiratory alkalosis

Autosomal recessive inheritance

Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.

489
(46.4%)

multiple mitochondrial dysfunctions syndrome 2

Hepatomegaly Lactic acidosis Visual impairment

Autosomal recessive inheritance

Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene.

489
(46.4%)

neutral lipid storage myopathy

Diabetes mellitus Hepatic steatosis Hepatomegaly Sensorineural hearing impairment

Autosomal recessive inheritance

489
(46.4%)

ornithine translocase deficiency

Chorioretinal atrophy Hepatomegaly Hyperammonemia

Autosomal recessive inheritance

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (triple H syndrome) is a disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or chronic liver dysfunction.

489
(46.4%)

Beckwith-Wiedemann syndrome

Cryptorchidism Hepatomegaly Neonatal hypoglycemia

Autosomal dominant inheritance

Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.

489
(46.4%)

fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

Hepatomegaly Increased serum lactate Visual impairment

Autosomal recessive inheritance

Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.

489
(46.4%)

combined oxidative phosphorylation defect type 11

Hepatic steatosis Hepatomegaly Renal insufficiency Renal tubular acidosis

Autosomal recessive inheritance

Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene.

489
(46.4%)

Wolcott-Rallison syndrome

Hepatomegaly Insulin-resistant diabetes mellitus Renal insufficiency

Autosomal recessive inheritance

Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.

489
(46.4%)

mucopolysaccharidosis type 4A

Hepatomegaly Inguinal hernia Keratan sulfate excretion in urine

Autosomal recessive inheritance

A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.

489
(46.4%)

mucopolysaccharidosis type 4B

Decreased beta-galactosidase activity Hepatomegaly Inguinal hernia

Autosomal recessive inheritance

A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature.

489
(46.4%)

ALG9-CDG

Edema Hepatosplenomegaly Polycystic kidney dysplasia

Autosomal recessive inheritance

A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).

489
(46.4%)

autosomal recessive limb-girdle muscular dystrophy type 2S

Elevated serum creatine kinase Hepatic steatosis Hepatomegaly Microcephaly

Autosomal recessive inheritance

Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.

489
(46.4%)

Alstrom syndrome

Hepatic steatosis Hepatomegaly Insulin-resistant diabetes mellitus Renal insufficiency

Autosomal recessive inheritance

AlstrC6m syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM), and progressive hepatic and renal dysfunction.

489
(46.4%)

mitochondrial complex I deficiency, nuclear type 1

Hepatomegaly Hypoglycemia Microcephaly

Autosomal recessive inheritance X-linked dominant inheritance Mitochondrial inheritance

489
(46.4%)

glycosylphosphatidylinositol biosynthesis defect 18

Elevated alkaline phosphatase Hepatomegaly Inguinal hernia

Autosomal recessive inheritance

489
(46.4%)

NGLY1-deficiency

Brachycephaly Fever Hepatomegaly

Autosomal recessive inheritance

A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities.

489
(46.4%)

multiple congenital anomalies-hypotonia-seizures syndrome 2

Cirrhosis Hepatomegaly Hydrops fetalis Micropenis

X-linked recessive inheritance

Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene.

548
(46.3%)

Kasabach-Merritt syndrome

Hemangioma Hyperkalemia Microangiopathic hemolytic anemia

Autosomal dominant inheritance

Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma.

548
(46.3%)

Norum disease

Foam cells Hemolytic anemia Proteinuria Renal insufficiency

Autosomal recessive inheritance

Familial LCAT (lecithin-cholesterol acyltransferase) deficiency (FLD) is a form of lecithin-cholesterol acyltransferase deficiency (LCAT) characterized clinically by corneal opacities, hemolytic anemia, and renal failure, and biochemically by severely decreased HDL cholesterol and complete deficiency of the LCAT enzyme.

548
(46.3%)

hyperuricemic nephropathy, familial juvenile type 4

Anemia Focal segmental glomerulosclerosis Hyperuricemia Vascular dilatation

Autosomal dominant inheritance

Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene.

551
(46.0%)

Fanconi anemia complementation group Q

Biliary atresia Bone marrow hypocellularity Microcephaly

Autosomal recessive inheritance

Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene.

552
(45.8%)

diarrhea 10, protein-losing enteropathy type

Ascites Hematochezia Metabolic acidosis

Autosomal recessive inheritance

553
(45.6%)

pernicious anemia

Malabsorption of Vitamin B12 Megaloblastic anemia

Autosomal dominant inheritance

Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells.

553
(45.6%)

Imerslund-Grasbeck syndrome type 1

Megaloblastic anemia Proteinuria Vitamin B12 deficiency

Autosomal recessive inheritance

An autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but sometimes occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Some patients may present later in childhood with neurologic abnormalities related to B12 deficiency, such as sensorimotor neuropathy and/or cognitive disturbances.

553
(45.6%)

methylcobalamin deficiency type cblE

Blindness Decreased methylcobalamin Megaloblastic anemia

Autosomal recessive inheritance

An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia.

553
(45.6%)

methylmalonic aciduria and homocystinuria type cblD

Megaloblastic anemia Methylmalonic acidemia Nystagmus

Autosomal recessive inheritance

A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by variable biochemical, neurological and hematological manifestations.

557
(45.6%)

Diamond-Blackfan anemia 14 with mandibulofacial dysostosis

Macrocytic anemia Micrognathia Sparse eyelashes

X-linked recessive inheritance

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene.

558
(45.6%)

southeast Asian ovalocytosis

Elliptocytosis Hemolytic anemia

Autosomal dominant inheritance

Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones.

558
(45.6%)

Dyserythropoiesis, congenital, with ultrastructurally normal erythroblast heterochromatin

Anemia of inadequate production Poikilocytosis

Autosomal dominant inheritance

558
(45.6%)

ovalocytosis, hereditary hemolytic, with defective erythropoiesis

Elliptocytosis Hemolytic anemia

Autosomal dominant inheritance

558
(45.6%)

hemolytic poikilocytic anemia due to reduced ankyrin binding sites

Elliptocytosis Nonspherocytic hemolytic anemia

Autosomal dominant inheritance

562
(45.6%)

Diamond-Blackfan anemia 9

Anemia Low levels of vitamin D Webbed neck

Autosomal dominant inheritance

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPS10 gene.

563
(45.6%)

glycoprotein storage disease

Splenomegaly

Autosomal recessive inheritance

563
(45.6%)

axial spondylometaphyseal dysplasia

Rod-cone dystrophy Splenomegaly

Autosomal recessive inheritance

Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion.

565
(45.5%)

DiGeorge syndrome

Abnormality of the thymus Cholelithiasis Hypocalcemia Inguinal hernia

Autosomal dominant inheritance

A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.

566
(45.3%)

campomelia, Cumming type

Lymphedema Polycystic kidney dysplasia Polycystic liver disease Polysplenia

Autosomal recessive inheritance

Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.

567
(45.3%)

scleroderma, familial progressive

Abnormal abdomen morphology Abnormality of chromosome stability Telangiectasia

Autosomal dominant inheritance

567
(45.3%)

XFE progeroid syndrome

Ascites Prematurely aged appearance Proteinuria Renal insufficiency

Autosomal recessive inheritance

A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13.

569
(45.2%)

Fryns syndrome

Chylothorax Cryptorchidism Polysplenia Single transverse palmar crease

Autosomal recessive inheritance

Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.

570
(45.0%)

platelet-type bleeding disorder 14

Bruising susceptibility Decreased serum thromboxane B2 Epistaxis

Autosomal dominant inheritance

Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the TBXAS1 gene.

570
(45.0%)

mastocytosis

Cutaneous mastocytosis Edema Urticaria

A clonal myeloproliferative neoplasm characterized by the proliferation and accumulation of neoplastic mast cells in one or multiple organs or organ systems. It is a heterogeneous group of neoplasms, ranging from cutaneous proliferations which may regress spontaneously, to aggressive neoplasms associated with organ failure and short survival.

570
(45.0%)

immunodeficiency, common variable, 6

Decreased circulating antibody level Purpura

Autosomal recessive inheritance

Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene.

570
(45.0%)

IgA nephropathy, susceptibility to, 1

Proteinuria Purpura

Autosomal dominant inheritance Heterogeneous

570
(45.0%)

thrombocytopenia 1

Epistaxis Increased circulating IgE level Petechiae

X-linked recessive inheritance

570
(45.0%)

Behcet disease

Decreased level of D-mannose in urine Erythema Superficial thrombophlebitis

Autosomal recessive inheritance

Bechet disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

570
(45.0%)

pigmented nodular adrenocortical disease, primary, 4

Bruising susceptibility Diabetes mellitus

Autosomal dominant inheritance

Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PRKACA gene.

570
(45.0%)

Hennekam-Beemer syndrome

Abnormality of metabolism/homeostasis Cutaneous mastocytosis Dermatographic urticaria

Autosomal recessive inheritance

Hennekam-Beemer syndrome is characterized by the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. The mode of inheritance is most likely autosomal recessive.

570
(45.0%)

Netherton syndrome

Hypereosinophilia Increased circulating IgE level Urticaria

Autosomal recessive inheritance

Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.

570
(45.0%)

Hyper-IgE recurrent infection syndrome 1

Eosinophilia Erythema Increased circulating IgE level

Autosomal dominant inheritance

A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome.

570
(45.0%)

SLC35A1-CDG

Proteinuria Subcutaneous hemorrhage Thrombocytopenia

Autosomal recessive inheritance

SLC35A1-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.

570
(45.0%)

Cushing disease due to pituitary adenoma

Bruising susceptibility Edema

Autosomal dominant inheritance Autosomal recessive inheritance

Cushing's syndrome due to abnormally high secretion of adrenocorticotropic hormone (ACTH) from the pituitary gland.

570
(45.0%)

deafness-intellectual disability, Martin-Probst type syndrome

Pancytopenia Proteinuria Telangiectasia

X-linked recessive inheritance

Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.

570
(45.0%)

RIN2 syndrome

Bruising susceptibility Palpebral edema

Autosomal recessive inheritance

RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported.

570
(45.0%)

Bloom syndrome

Cutaneous photosensitivity Decreased circulating IgA level Facial telangiectasia in butterfly midface distribution Leukemia

Autosomal recessive inheritance

Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

570
(45.0%)

Bannayan-Riley-Ruvalcaba syndrome

Angiokeratoma Hematochezia Hypoglycemia

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

570
(45.0%)

Ehlers-Danlos syndrome, dermatosparaxis type

Blepharochalasis Bruising susceptibility Gingival bleeding

Autosomal recessive inheritance

A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.

570
(45.0%)

Ehlers-Danlos syndrome, kyphoscoliotic type 1

Abnormality of metabolism/homeostasis Bruising susceptibility

Autosomal recessive inheritance

Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.

570
(45.0%)

Cowden syndrome 1

Abnormality of the vasculature Decreased circulating antibody level Lymphopenia Subcutaneous lipoma

Autosomal dominant inheritance

Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene.

589
(44.8%)

jaundice, familial obstructive, of infancy

Jaundice Neonatal hyperbilirubinemia

X-linked recessive inheritance

589
(44.8%)

hyperbilirubinemia, conjugated, type 3

Conjugated hyperbilirubinemia Jaundice

Autosomal recessive inheritance

589
(44.8%)

Dubin-Johnson syndrome

Conjugated hyperbilirubinemia Jaundice

Autosomal recessive inheritance

Dubin-Johnson syndrome (DJS) is a benign, inherited liver disorder characterized clinically by chronic, predominantly conjugated, hyperbilirubinemia and histopathologically by black-brown pigment deposition in parenchymal liver cells.

589
(44.8%)

Crigler-Najjar syndrome type 2

Jaundice Unconjugated hyperbilirubinemia

Autosomal recessive inheritance

Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucuronosyltransferase (GT). CNS2 is a milder form of CNS than CNS1.

589
(44.8%)

Gilbert syndrome

Dehydration Jaundice

Autosomal recessive inheritance

An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice.

589
(44.8%)

Rotor syndrome

Abnormality of the skeletal system Conjugated hyperbilirubinemia Jaundice

Digenic inheritanec

Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.

589
(44.8%)

transient familial neonatal hyperbilirubinemia

Jaundice Neonatal unconjugated hyperbilirubinemia

Autosomal recessive inheritance

589
(44.8%)

Crigler-Najjar syndrome type 1

Jaundice Unconjugated hyperbilirubinemia

Autosomal recessive inheritance

Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS, a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic bilirubin glucuronosyltransferase (BGT).

589
(44.8%)

galactokinase deficiency

Cataract Galactosuria Prolonged neonatal jaundice

Autosomal recessive inheritance

Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.

589
(44.8%)

cholestasis, intrahepatic, of pregnancy, 1

Increased serum bile acid concentration during pregnancy Jaundice

Autosomal dominant inheritance

589
(44.8%)

cholestasis, intrahepatic, of pregnancy 3

Increased serum bile acid concentration during pregnancy Jaundice

Autosomal dominant inheritance Autosomal recessive inheritance

589
(44.8%)

cirrhosis, familial

Fever Hypertension Jaundice

Autosomal dominant inheritance Autosomal recessive inheritance

Cirrhosis in which no causative agent can be identified.