ODCs

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1 OMIM reference -
1 associated gene
3 signs/symptoms

PROTEIN INTERACTIONS: 1

2 OMIM references -
2 associated genes
No signs/symptoms info

Ataxia - hypogonadism - choroidal dystrophy

X-linked Emery-Dreifuss muscular dystrophy

PNPLA6	(UniProt - OMIM)		EMD	(UniProt - OMIM)
			FHL1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PNPLA6	(0.63)	EMD

Citations in the biomedical literature:

Ataxia - hypogonadism - choroidal dystrophy		X-linked Emery-Dreifuss muscular dystrophy
	Synonym(s): - Boucher-NeuhÃ¤user syndrome		Synonym(s): - EDMD1

	Classification (Orphanet): - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare neurologic disease		Classification (Orphanet): - Rare cardiac disease - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: - Average age of death: - Type of inheritance: x-linked recessive

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - No MeSH references

Ataxia - hypogonadism - choroidal dystrophy
	Very frequent - Ataxia / incoordination / trouble of the equilibrium - Late puberty / hypogonadism / hypogenitalism - Retinitis pigmentosa / retinal pigmentary changes
X-linked Emery-Dreifuss muscular dystrophy
(no data available)