ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
1 sign/symptom

Hermansky-Pudlak syndrome type 7

Autosomal recessive ataxia, Beauce type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DTNBP1	(0.63)	SYNE1

Citations in the biomedical literature:

Hermansky-Pudlak syndrome type 7		Autosomal recessive ataxia, Beauce type
	Synonym(s): - HPS7		Synonym(s): - ARCA1 - Autosomal recessive cerebellar ataxia type 1 - SCAR8

	Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease - Rare hematologic disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adulthood Average age of death: no data available Type of inheritance: autosomal recessive

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

Autosomal recessive ataxia, Beauce type
	Very frequent - Ataxia / incoordination / trouble of the equilibrium
Hermansky-Pudlak syndrome type 7
(no data available)