ODCs

Click node...

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

PROTEIN INTERACTIONS: 1

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

Lethal congenital contracture syndrome type 3

Hereditary proximal myopathy with early respiratory failure

MYBPC1	(UniProt - OMIM)		TTN	(UniProt - OMIM)
PIP5K1C	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MYBPC1	(0.75)	TTN

Citations in the biomedical literature:

Lethal congenital contracture syndrome type 3		Hereditary proximal myopathy with early respiratory failure
	Synonym(s): - LCCS3		Synonym(s): - ADMERF - EdstrÃ¶m Myopathy - HIBM-ERF - Hereditary inclusion body myopathy with early respiratory failure - Myofibrillar myopathy with early respiratory failure

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

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

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

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

No signs/symptoms info available.