Pancreatic agenesis 2

Preferred Label : Pancreatic agenesis 2;

Symbol : PAGEN2;

CISMeF acronym : PAGEN2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pancreatic hypoplasia, congenital 2;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in a downstream enhancer of the alpha subunit of the pancreas transcription factor 1 gene (PTF1A, 607194);

Prefixed ID : #615935;

Details

Origin ID

615935;

UMLS CUI

C4014737;

Genes related to phenotype
- Pancreas transcription factor 1, alpha subunit [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Pancreatic hypoplasia [HPO term]
- Small for gestational age [HPO term]
- Steatorrhea [HPO term]
ORDO concept(s)
- Partial pancreatic agenesis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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