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Lissencephaly due to TUBA1A mutation

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Familial cylindromatosis

1 OMIM reference -
1 associated gene
5 signs/symptoms

Lissencephaly due to TUBA1A mutation

Familial cylindromatosis

(UniProt - OMIM)

(UniProt - OMIM)


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

Citations in the biomedical literature:

Lissencephaly due to TUBA1A mutation		Familial cylindromatosis
	Synonym(s): (no synonyms)		Synonym(s): - Turban tumor syndrome

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: (no data available)		Epidemiological data: (no data available)

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536611

Familial cylindromatosis
	Very frequent - Autosomal dominant inheritance - Scalp cyst / giant nevus - Skin tumors / lumps / epidermal cysts - Subcutaneous nodules / lipomas / tumefaction / swelling - Telangiectasiae of the skin
Lissencephaly due to TUBA1A mutation
(no data available)