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GTR Home > Conditions/Phenotypes > Pancreatic hypoplasia-diabetes-congenital heart disease syndrome

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome

Synonyms
HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES; PANCREATIC HYPOPLASIA, CONGENITAL, WITH DIABETES MELLITUS AND CONGENITAL HEART DISEASE; Pancreatic agenesis and congenital heart disease
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)

Summary

This syndrome has characteristics of partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis). It has been described in one Japanese family, in which the mother and at least two of her four children were affected (another two children died shortly after birth). The syndrome appears to be inherited as an autosomal dominant trait. [from SNOMEDCT_US]

Available tests

29 tests are in the database for this condition.

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Clinical tests (29 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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