Cytoscape Web
Click node...


6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
6 signs/symptoms
Semantic dementia
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome

C9ORF72 DSP
CHMP2B
GRN
MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VCP
PSEN1
(0.73)
(0.49)
DSP
DSP



Citations in the biomedical literature:


Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
DSP



Semantic dementia
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome

Synonym(s):
- Semantic primary progressive aphasia
- Semantic variant PPA

Synonym(s):
- Carvajal syndrome
- Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
- Wooly hair - palmoplantar keratoderma - dilated cardiomyopathy
- Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: -
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive

External references:
No OMIM references
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


Semantic dementia

(no data available)