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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
Fatal infantile hypertonic myofibrillar myopathy

CTNNB1 CRYAB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CTNNB1
(0.84)
CRYAB



Citations in the biomedical literature:


Pilomatrixoma
CTNNB1
Fatal infantile hypertonic myofibrillar myopathy
CRYAB



Pilomatrixoma
Fatal infantile hypertonic myofibrillar myopathy

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

Synonym(s):
(no synonyms)

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

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
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.