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Hemimegalencephaly

2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Hereditary hyperferritinemia with congenital cataracts

1 OMIM reference -
1 associated gene
2 signs/symptoms

Hemimegalencephaly

Hereditary hyperferritinemia with congenital cataracts

AKT3	(UniProt - OMIM)		FTL	(UniProt - OMIM)
PIK3CA	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PIK3CA	(0.63)	FTL

Citations in the biomedical literature:

Hemimegalencephaly		Hereditary hyperferritinemia with congenital cataracts
	Synonym(s): - Unilateral megalencephaly		Synonym(s): - Bonneau-Beaumont syndrome - HHCS - Hereditary hyperferritinemia-cataract syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare eye disease - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the eye and adnexa -

	Epidemiological data: (no data available)		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: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C538137

Hereditary hyperferritinemia with congenital cataracts
	Very frequent - Cataract / lens opacification - Metabolic anomalies
Hemimegalencephaly
(no data available)