ODCs

Click node...

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

PROTEIN INTERACTIONS: 1

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

Distal myopathy with posterior leg and anterior hand involvement

Combined deficiency of factor V and factor VIII

FLNC	(UniProt - OMIM)		LMAN1	(UniProt - OMIM)
			MCFD2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNC	(0.63)	LMAN1

Citations in the biomedical literature:

Distal myopathy with posterior leg and anterior hand involvement		Combined deficiency of factor V and factor VIII
	Synonym(s): - Distal ABD-filaminopathy		Synonym(s): - F5F8D - FV and FVIII combined deficiency - Familial multiple coagulation factor deficiency

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

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adolescence / young Average age of death: no data available Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: variable Average age of death: any age Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - No MeSH references

No signs/symptoms info available.