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Distal 17p13.3 microdeletion syndrome

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Moyamoya disease

4 OMIM references -
2 associated genes
6 signs/symptoms

Distal 17p13.3 microdeletion syndrome

Moyamoya disease

YWHAE	(UniProt - OMIM)		ACTA2	(UniProt - OMIM)
			RNF213	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	YWHAE	(0.49)	ACTA2

Citations in the biomedical literature:

Distal 17p13.3 microdeletion syndrome		Moyamoya disease
	Synonym(s): - Distal del(17)(p13.3 ) - Distal monosomy 17p13.3		Synonym(s): (no synonyms)

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the circulatory system -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 4 OMIM references - 2 MeSH references: C536991 / D009072

Moyamoya disease
	Very frequent - Autosomal recessive inheritance - Vascular anomalies of skin / mucosae Frequent - Cerebral vascular anomalies - Dilated cerebral ventricles without hydrocephaly - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus
Distal 17p13.3 microdeletion syndrome
(no data available)