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2 OMIM references -
1 associated gene
6 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Familial multiple trichoepithelioma
Lissencephaly due to TUBA1A mutation

CYLD TUBA1A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CYLD
(0.87)
TUBA1A



Citations in the biomedical literature:


Familial multiple trichoepithelioma
CYLD
Lissencephaly due to TUBA1A mutation
TUBA1A



Familial multiple trichoepithelioma
Lissencephaly due to TUBA1A mutation

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
2 OMIM references -
1 MeSH reference: C536552
External references:
1 OMIM reference -
No MeSH references

Familial multiple trichoepithelioma

Very frequent
- Autosomal dominant inheritance
- Follicular / erythematous / edematous papules / milium
- Skin tumors / lumps / epidermal cysts
- Subcutaneous nodules / lipomas / tumefaction / swelling

Frequent
- Telangiectasiae of the skin

Occasional
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)


Lissencephaly due to TUBA1A mutation

(no data available)