ODCs

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

PROTEIN INTERACTIONS: 1

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

Autosomal recessive limb-girdle muscular dystrophy type 2B

Chilblain lupus

DYSF	(UniProt - OMIM)		SAMHD1	(UniProt - OMIM)
			TREX1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DYSF	(0.63)	SAMHD1

Citations in the biomedical literature:

Autosomal recessive limb-girdle muscular dystrophy type 2B		Chilblain lupus
	Synonym(s): - LGMD2B - Limb-girdle muscular dystrophy due to dysferlin deficiency		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the skin and subcutaneous tissue -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: adulthood Average age of death: normal Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: C535924

No signs/symptoms info available.