ODCs

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

PROTEIN INTERACTIONS: 1

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

Hyperphosphatasia-intellectual deficiency syndrome

Muscular dystrophy, Selcen type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PIGV	(0.63)	BAG3

Citations in the biomedical literature:

Hyperphosphatasia-intellectual deficiency syndrome		Muscular dystrophy, Selcen type
	Synonym(s): - HPMR - Mabry syndrome		Synonym(s): (no synonyms)

	Classification (Orphanet): - Inborn errors of metabolism - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adolescence / young Average age of death: - Type of inheritance: autosomal dominant

	External references: 4 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

No signs/symptoms info available.