ODCs

Cytoscape Web

Click node...

Distal 17p13.3 microdeletion syndrome

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
8 signs/symptoms

Distal 17p13.3 microdeletion syndrome

TARP syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	YWHAE	(0.63)	RBM10

Citations in the biomedical literature:

Distal 17p13.3 microdeletion syndrome		TARP syndrome
	Synonym(s): - Distal del(17)(p13.3 ) - Distal monosomy 17p13.3		Synonym(s): - Pierre Robin sequence - congenital heart defect - talipes - Pierre Robin syndrome - congenital heart defect - talipes - Talipes equinovarus - atrial septal defect - Robin sequence - Persistence of the left superior vena cava

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare surgical cardiac disease

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

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

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536942

TARP syndrome
	Very frequent - Arteriovenous malformations / vascular malformations (excluding port-wine stains) - Atrial septal defect / interauricular communication - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Glossoptosis - Micrognathia / retrognathia / micrognathism / retrognathism - X-linked recessive inheritance Frequent - Low set ears / posteriorly rotated ears - Undescended / ectopic testes / cryptorchidia / unfixed testes
Distal 17p13.3 microdeletion syndrome
(no data available)