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GENATLAS PHENOTYPE

last update : 26-11-2013

Symbol	PACHD
Location	18q11.2
Name	pancreatic agenesis and congenital heart defects
Corresponding gene	GATA6
Main clinical features	hyperglycemia that required continuous insulin infusion and who also had exocrine pancreatic deficiency requiring replacement therapy CT scan of the abdomen failed to show pancreatic tissue on MRI, a small amount of probably hypoplastic or atrophic pancreatic tissue was seen cardiac anomalies consisted of transposition of the great vessels, ventricular septal defects, pulmonic stenosis, and atrial septal defect
Genetic determination	autosomal recessive
Function/system disorder	cardiovascular
	endocrinology
Type	disease

Remark(s)