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3 OMIM references -
3 associated genes
4 signs/symptoms
PROTEIN INTERACTIONS: 3
1 OMIM reference -
1 associated gene
No signs/symptoms info
Keratosis palmoplantaris striata
Spinocerebellar ataxia type 12

DSG1 PPP2R2B
DSP
KRT1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
DSP
KRT1
DSG1
(0.68)
(0.68)
(0.63)
PPP2R2B
PPP2R2B
PPP2R2B



Citations in the biomedical literature:


Keratosis palmoplantaris striata
DSG1 DSP KRT1
Spinocerebellar ataxia type 12
PPP2R2B



Keratosis palmoplantaris striata
Spinocerebellar ataxia type 12

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

Synonym(s):
- SCA12

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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

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

Keratosis palmoplantaris striata

Very frequent
- Autosomal dominant inheritance
- Palmoplantar hyperkeratosis / keratoderma

Frequent
- Hair and scalp anomalies
- Nails anomalies



Spinocerebellar ataxia type 12

(no data available)