ODCs

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1 OMIM reference -
1 associated gene
2 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
8 signs/symptoms

Hereditary hyperferritinemia with congenital cataracts

Huntington disease


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

Citations in the biomedical literature:

Hereditary hyperferritinemia with congenital cataracts		Huntington disease
	Synonym(s): - Bonneau-Beaumont syndrome - HHCS - Hereditary hyperferritinemia-cataract syndrome		Synonym(s): - Huntington chorea

	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): - Diseases of the nervous system -

	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: 1-9 / 100 000 Average age onset: variable Average age of death: any age Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C538137		External references: 1 OMIM reference - 1 MeSH reference: D006816

Hereditary hyperferritinemia with congenital cataracts		Huntington disease
	Very frequent - Cataract / lens opacification - Metabolic anomalies		Frequent - Abnormal cry / voice / phonation disorder / nasal speech - Autosomal dominant inheritance - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - EEG anomalies - Hypertonia / spasticity / rigidity / stiffness - Movement disorder - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline