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2 OMIM references -
2 associated genes
3 signs/symptoms
PROTEIN INTERACTIONS: 2
1 OMIM reference -
2 associated genes
8 signs/symptoms
Hypomyelination - hypogonadotropic hypogonadism - hypodontia
Choroideremia

POLR3A CHM
POLR3B RPE65


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
POLR3A
POLR3B
(0.63)
(0.63)
CHM
CHM



Citations in the biomedical literature:


Hypomyelination - hypogonadotropic hypogonadism - hypodontia
POLR3A POLR3B
Choroideremia
CHM RPE65



Hypomyelination - hypogonadotropic hypogonadism - hypodontia
Choroideremia

Synonym(s):
- 4H syndrome

Synonym(s):
- CHM
- Tapetochoroidal dystrophy

Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- 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: adolescence / young
Average age of death: -
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:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D015794

Hypomyelination - hypogonadotropic hypogonadism - hypodontia
Choroideremia

Very frequent
- Anomalies of teeth and dentition
- Ataxia / incoordination / trouble of the equilibrium
- Late puberty / hypogonadism / hypogenitalism



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