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1 OMIM reference -
1 associated gene
4 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Spinocerebellar ataxia type 1

POMP ATXN1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
POMP
(0.63)
ATXN1



Citations in the biomedical literature:


Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
POMP
Spinocerebellar ataxia type 1
ATXN1



Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Spinocerebellar ataxia type 1

Synonym(s):
- KLICK syndrome

Synonym(s):
- SCA1

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: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant

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

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

Very frequent
- Autosomal dominant inheritance
- Ichthyosis / ichthyosiform dermatitis
- Palmoplantar hyperkeratosis / keratoderma

Frequent
- Joint / articular deformation



Spinocerebellar ataxia type 1

(no data available)