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Odontoleukodystrophy
1 OMIM reference -
1 associated gene
18 connected diseases
No signs/symptoms info
Disease Type of connection
Hypomyelination - hypogonadotropic hypogonadism - hypodontia
Extraskeletal Ewing sarcoma
Treacher-Collins syndrome
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
Choroideremia
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):
- Dentoleukoencephalopathy
- Leukodystrophy with oligodontia

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the digestive system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
POLR3A O14802614258
No signs/symptoms info available.