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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
3 associated genes
No signs/symptoms info
Skin fragility-woolly hair-palmoplantar keratoderma 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:


Skin fragility-woolly hair-palmoplantar keratoderma syndrome
DSP
Frontotemporal dementia with motor neuron disease
C9ORF72 FUS TARDBP



Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Frontotemporal dementia with motor neuron disease

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

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

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):
(no data available)

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: 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

No signs/symptoms info available.