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Hypomyelination - hypogonadotropic hypogonadism - hypodontia
2 OMIM references -
2 associated genes
18 connected diseases
3 signs/symptoms
Disease Type of connection
Odontoleukodystrophy
Treacher-Collins syndrome
Choroideremia
Extraskeletal Ewing sarcoma
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Burkitt lymphoma
Dehydratase deficiency
Desmoplastic small round cell tumor
Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
Melanoma of soft part
Precursor T-cell acute lymphoblastic leukemia
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Synonym(s):
- 4H syndrome
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare neurologic disease
Classification (ICD10):
- Diseases of the digestive system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
POLR3A O14802614258
POLR3B Q9NW08614366
Very frequent
- Anomalies of teeth and dentition
- Ataxia / incoordination / trouble of the equilibrium
- Late puberty / hypogonadism / hypogenitalism