ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
2 signs/symptoms

Pelizaeus-Merzbacher-like due to HSPD1 mutation

Hereditary hyperferritinemia with congenital cataracts


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HSPD1	(0.49)	FTL

Citations in the biomedical literature:

Pelizaeus-Merzbacher-like due to HSPD1 mutation		Hereditary hyperferritinemia with congenital cataracts
	Synonym(s): - Mitochondrial HSP60 chaperonopathy		Synonym(s): - Bonneau-Beaumont syndrome - HHCS - Hereditary hyperferritinemia-cataract syndrome

	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: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C538137

Hereditary hyperferritinemia with congenital cataracts
	Very frequent - Cataract / lens opacification - Metabolic anomalies
Pelizaeus-Merzbacher-like due to HSPD1 mutation
(no data available)