ODCs

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1 OMIM reference -
1 associated gene
26 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
8 signs/symptoms

Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria

Choroideremia

MPST	(UniProt - OMIM)		CHM	(UniProt - OMIM)
			RPE65	(UniProt - OMIM)


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

Citations in the biomedical literature:

Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria		Choroideremia
	Synonym(s): - Ampola syndrome		Synonym(s): - CHM - Tapetochoroidal dystrophy

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare eye disease - Rare genetic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the eye and adnexa -

	Epidemiological data: (no data available)		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

Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria		Choroideremia
	Very frequent - Autosomal dominant inheritance - High forehead - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus - Short stature / dwarfism / nanism Frequent - Anteverted nares / nostrils - Beaked nose - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Dry / squaly skin / exfoliation - Ear cartilage deficiency - EEG anomalies - Frontal bossing / prominent forehead - Genu valgum - High vaulted / narrow palate - Hyperextensible joints / articular hyperlaxity - Hypotonia - Long hand / arachnodactyly - Low set ears / posteriorly rotated ears - Short limbs / micromelia / brachymelia - Spindle shaped fingers - Strabismus / squint - Wide space between 1st-2nd toes Occasional - Atrial septal defect / interauricular communication - Generalized obesity - Umbilical hernia - Ureter / calyx / pelvis duplication / bifid / retrocava / retroiliac ureter		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