ODCs

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1 OMIM reference -
1 associated gene
6 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
2 associated genes
18 signs/symptoms

Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome

Epidermolysis bullosa simplex, Dowling-Meara type

DSP	(UniProt - OMIM)		KRT14	(UniProt - OMIM)
			KRT5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DSP	(0.58)	KRT5

Citations in the biomedical literature:

Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome		Epidermolysis bullosa simplex, Dowling-Meara type
	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): - Epidermolysis bullosa simplex, herpetiformis

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

	Classification (ICD10): (no data available)		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: child / adolescent Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Palmoplantar hyperkeratosis / keratoderma - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome		Epidermolysis bullosa simplex, Dowling-Meara type
	Very frequent - Autosomal recessive inheritance - Cardiomyopathy / hypertrophic / dilated - Woolly / frizzy hair Occasional - Heart / cardiac failure		Very frequent - Abnormal fingernails - Anomalies of skin, subcutaneous tissue and mucosae - Autosomal dominant inheritance - Mucosal / cutaneous hemorrhage - Nails anomalies Frequent - Chronic skin infection / ulcerations / ulcers / cancrum - Hyperkeratosis / ainhum / hyperkeratotic skin fissures Occasional - Abnormal pigmentary skin changes / skin pigmentation anomalies - Abnormal scarring / cheloids / hypertrophic scars - Constipation - Early death / lethality - Enanthema / aphtosa / aphta / leukoplakia - Failure to thrive / difficulties for feeding in infancy / growth delay - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Skin hypoplasia / aplasia / atrophy - Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)