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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
6 associated genes
No signs/symptoms info
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Progressive non-fluent aphasia

DSP C9ORF72
CHMP2B
GRN
MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Skin fragility-woolly hair-palmoplantar keratoderma syndrome
DSP
Progressive non-fluent aphasia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP



Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Progressive non-fluent aphasia

Synonym(s):
- Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome

Synonym(s):
- Agramatic variant of PPA
- Agramatic variant of primary progressive aphasia
- Non-fluent variant PPA

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D057178

No signs/symptoms info available.