ODCs

Click node...

1 OMIM reference -
1 associated gene
6 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
5 associated genes
5 signs/symptoms

Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome

Generalized junctional epidermolysis bullosa, non-Herlitz type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DSP	(0.65)	COL17A1

Citations in the biomedical literature:

Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome		Generalized junctional epidermolysis bullosa, non-Herlitz 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): - GABEB - Generalized atrophic benign epidermolysis bullosa - JEB-nH gen - Junctional epidermolysis bullosa generalisata mitis - Junctional epidermolysis bullosa, Disentis type

	Classification (Orphanet): - Rare cardiac disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic 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: unknown Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome		Generalized junctional epidermolysis bullosa, non-Herlitz type
	Very frequent - Autosomal recessive inheritance - Cardiomyopathy / hypertrophic / dilated - Palmoplantar hyperkeratosis / keratoderma - Woolly / frizzy hair Occasional - Heart / cardiac failure		Very frequent - Nails anomalies Frequent - Abnormal fingernails - Abnormal toenails Occasional - Anomalies of teeth and dentition