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1 OMIM reference -
1 associated gene
6 signs/symptoms
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
3 OMIM references -
3 associated genes
4 signs/symptoms
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Keratosis palmoplantaris striata

DSP DSG1
DSP
KRT1


COMMON
GENES
DSP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DSP
(0.78)
KRT1



Citations in the biomedical literature:


Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
DSP
Keratosis palmoplantaris striata
DSG1 KRT1



Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Keratosis palmoplantaris striata

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):
- Keratosis palmoplantaris striata et areata
- Keratosis palmoplantaris varians of Wachters
- Striate palmoplantar keratoderma

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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Palmoplantar hyperkeratosis / keratoderma


Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Keratosis palmoplantaris striata

Very frequent
- Autosomal recessive inheritance
- Cardiomyopathy / hypertrophic / dilated
- Woolly / frizzy hair

Occasional
- Heart / cardiac failure
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment


Very frequent
- Autosomal dominant inheritance

Frequent
- Hair and scalp anomalies
- Nails anomalies