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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
Sebocystomatosis
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity

KRT17 UCHL1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KRT17
(0.76)
UCHL1



Citations in the biomedical literature:


Sebocystomatosis
KRT17
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
UCHL1



Sebocystomatosis
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity

Synonym(s):
- Steatocystoma multiplex

Synonym(s):
(no synonyms)

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

Classification (ICD10):
- Diseases of the skin and subcutaneous tissue -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive

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

Sebocystomatosis

Very frequent
- Adenoma sebaceum
- Autosomal dominant inheritance
- Skin tumors / lumps / epidermal cysts

Occasional
- Urinary / renal lithiasis / kidney stones / nephritic colic


Early-onset progressive neurodegeneration - blindness - ataxia - spasticity

(no data available)