ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
No signs/symptoms info

Autosomal recessive limb-girdle muscular dystrophy type 2Q

Localized junctional epidermolysis bullosa, non-Herlitz type

PLEC	(UniProt - OMIM)		COL17A1	(UniProt - OMIM)
			ITGB4	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PLEC	(0.83)	ITGB4

Citations in the biomedical literature:

Autosomal recessive limb-girdle muscular dystrophy type 2Q		Localized junctional epidermolysis bullosa, non-Herlitz type
	Synonym(s): - Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency - LGMD2Q		Synonym(s): - JEB-nH loc

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic disease - Rare skin disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

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

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

No signs/symptoms info available.