ODCs

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1 OMIM reference -
1 associated gene
2 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Hereditary hyperferritinemia with congenital cataracts

Pelizaeus-Merzbacher-like due to HSPD1 mutation


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

Citations in the biomedical literature:

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

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

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

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

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

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