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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Pilomatrixoma
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity

CTNNB1 UCHL1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
(0.63)
UCHL1



Citations in the biomedical literature:


Pilomatrixoma
CTNNB1
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity
UCHL1



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

Synonym(s):
- Epithelioma calcificans of Malherbe
- Pilomatricoma

Synonym(s):
(no synonyms)

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

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
(no data available)

Epidemiological data:
(no data available)
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 -
1 MeSH reference: D018296
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.