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Odontoleukodystrophy
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Choroideremia
1 OMIM reference -
2 associated genes
8 signs/symptoms
Odontoleukodystrophy
Choroideremia

POLR3A
(UniProt - OMIM)
 CHM
(UniProt - OMIM)
RPE65
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
POLR3A
(0.63)
CHM


Citations in the biomedical literature:


Odontoleukodystrophy
POLR3A
Choroideremia
CHM RPE65



Odontoleukodystrophy
Choroideremia

Synonym(s):
- Dentoleukoencephalopathy
- Leukodystrophy with oligodontia
Synonym(s):
- CHM
- Tapetochoroidal dystrophy
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the digestive system -
Classification (ICD10):
- Diseases of the eye and adnexa -
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
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D015794
Choroideremia

Very frequent
- Abnormal ERG / electroretinogram / electroretinography
- Anomalies of eyes and vision
- Mild visual loss / impaired visual acuity
- Myopia
- Night blindness / hemeralopia
- Retinitis pigmentosa / retinal pigmentary changes
- X-linked recessive inheritance

Frequent
- Visual loss / blindness / amblyopia



Odontoleukodystrophy

(no data available)