ODCs

Cytoscape Web

Click node...

Familial infantile bilateral striatal necrosis

2 OMIM references -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
8 signs/symptoms

Familial infantile bilateral striatal necrosis

Choroideremia

ADAR	(UniProt - OMIM)		CHM	(UniProt - OMIM)
MT-ATP6	(UniProt - OMIM)		RPE65	(UniProt - OMIM)
NUP62	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	NUP62	(0.63)	CHM

Citations in the biomedical literature:

Familial infantile bilateral striatal necrosis		Choroideremia
	Synonym(s): - Familial IBSN - Familial infantile striatonigral degeneration - Familial infantile striatonigral necrosis		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 nervous system -		Classification (ICD10): - Diseases of the eye and adnexa -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		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

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
Familial infantile bilateral striatal necrosis
(no data available)