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Choroideremia
1 OMIM reference -
2 associated genes
8 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
Micro syndrome
4 OMIM references -
4 associated genes
39 signs/symptoms
Choroideremia
Micro syndrome

CHM
(UniProt - OMIM)
 RAB18
(UniProt - OMIM)
RPE65
(UniProt - OMIM)
 RAB3GAP1
(UniProt - OMIM)
RAB3GAP2
(UniProt - OMIM)
TBC1D20
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
CHM
(0.63)
RAB18


Citations in the biomedical literature:


Choroideremia
CHM RPE65
Micro syndrome
RAB18 RAB3GAP1 RAB3GAP2 TBC1D20



Choroideremia
Micro syndrome

Synonym(s):
- CHM
- Tapetochoroidal dystrophy
Synonym(s):
- WARBM
- Warburg micro syndrome
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the eye and adnexa -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: any age
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: D015794
External references:
4 OMIM references -
No MeSH references
COMMON
SIGNS 		- Retinitis pigmentosa / retinal pigmentary changes
- Visual loss / blindness / amblyopia

Choroideremia
Micro syndrome

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



Very frequent
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Anteverted nares / nostrils
- Autosomal recessive inheritance
- Broad nasal root
- Cataract / lens opacification
- Corpus callosum / septum pellucidum total / partial agenesis
- High vaulted / narrow palate
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Late puberty / hypogonadism / hypogenitalism
- Microcephaly
- Microcornea
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Restricted joint mobility / joint stiffness / ankylosis
- Short philtrum
- Short stature / dwarfism / nanism
- Short / small nose
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Frequent
- Abnormal VEP / Visual evoked potential
- Clitoris / labia majora / labia minora / female external genitalia hypoplasia
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Hirsutism / hypertrichosis / Increased body hair
- Intrauterine growth retardation
- Kyphosis
- Long / large ear
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Micropenis / small penis / agenesis
- Scoliosis

Occasional
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Ectopic / horseshoe / fused kidneys
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Peripheral neuropathy
- Retinoschisis / retinal / chorioretinal coloboma
- Seizures / epilepsy / absences / spasms / status epilepticus