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Choroideremia
1 OMIM reference -
2 associated genes
13 connected diseases
8 signs/symptoms
Disease Type of connection
Leber congenital amaurosis
Retinitis pigmentosa
Severe early-childhood-onset retinal dystrophy
Hypomyelination - hypogonadotropic hypogonadism - hypodontia
Autosomal dominant Charcot-Marie-Tooth disease type 2B
22q11.2 deletion syndrome
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
Familial infantile bilateral striatal necrosis
Klippel-Trénaunay syndrome
Micro syndrome
Odontoleukodystrophy
Thrombocytopenia - absent radius
Progressive retinal dystrophy due to retinol transport defect
Synonym(s):
- CHM
- Tapetochoroidal dystrophy
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Diseases of the eye and adnexa -
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 -
1 MeSH reference: D015794
Gene symbol UniProt reference OMIM reference
CHM P24386300390
RPE65 Q16518180069
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