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1 OMIM reference -
1 associated gene
6 signs/symptoms
PROTEIN INTERACTIONS: 1
3 OMIM references -
3 associated genes
No signs/symptoms info
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Frontotemporal dementia with motor neuron disease

DSP C9ORF72
FUS
TARDBP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DSP
(0.63)
TARDBP



Citations in the biomedical literature:


Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
DSP
Frontotemporal dementia with motor neuron disease
C9ORF72 FUS TARDBP



Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Frontotemporal dementia with motor neuron disease

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):
- FTD-ALS
- FTD-MND
- Frontotemporal dementia with amyotrophic lateral sclerosis

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

Classification (ICD10):
(no data available)
Classification (ICD10):
(no data available)

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: adulthood
Average age of death: adult
Type of inheritance: autosomal dominant

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


Frontotemporal dementia with motor neuron disease

(no data available)