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Distal 17p13.3 microdeletion syndrome

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Cystic fibrosis

1 OMIM reference -
5 associated genes
9 signs/symptoms

Distal 17p13.3 microdeletion syndrome

Cystic fibrosis

YWHAE	(UniProt - OMIM)		CFTR	(UniProt - OMIM)
			CLCA4	(UniProt)
			DCTN4	(UniProt - OMIM)
			STX1A	(UniProt - OMIM)
			TGFB1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	YWHAE	(0.88)	TGFB1

Citations in the biomedical literature:

Distal 17p13.3 microdeletion syndrome		Cystic fibrosis
	Synonym(s): - Distal del(17)(p13.3 ) - Distal monosomy 17p13.3		Synonym(s): - CF - Mucoviscidosis

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare gastroenterologic disease - Rare genetic disease - Rare infertility - Rare respiratory disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: 1-5 / 10 000 Average age onset: neonatal/infancy Average age of death: young adult Type of inheritance: autosomal recessive

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D003550

Cystic fibrosis
	Very frequent - Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency - Autosomal recessive inheritance - Immunodeficiency / increased susceptibility to infections / recurrent infections - Lung fibrosis - Malabsorption / chronic diarrhea / steatorrhea - Repeat respiratory infections - Structural anomalies of the liver and the biliary tract - Structural anomalies of the pancreas Occasional - Hepatomegaly / liver enlargement (excluding storage disease)
Distal 17p13.3 microdeletion syndrome
(no data available)