ODCs

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1 OMIM reference -
1 associated gene
6 signs/symptoms

PROTEIN INTERACTIONS: 1

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

Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome

Glycogen storage disease due to muscle beta-enolase deficiency


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DSP	(0.63)	ENO3

Citations in the biomedical literature:

Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome		Glycogen storage disease due to muscle beta-enolase deficiency
	Synonym(s): - Carvajal syndrome - Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome - Wooly hair - palmoplantar keratoderma - dilated cardiomyopathy - Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome		Synonym(s): - GSD due to muscle beta-enolase deficiency - GSDXIII - Glycogenosis due to muscle beta-enolase deficiency - Glycogenosis type 13 - Muscle enolase deficiency - Muscular enolase deficiency

	Classification (Orphanet): - Rare cardiac disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	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: adulthood 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

Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
	Very frequent - Autosomal recessive inheritance - Cardiomyopathy / hypertrophic / dilated - Palmoplantar hyperkeratosis / keratoderma - Woolly / frizzy hair Occasional - Heart / cardiac failure - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment
Glycogen storage disease due to muscle beta-enolase deficiency
(no data available)