Pancreatic agenesis 1

Preferred Label : Pancreatic agenesis 1;

Symbol : PAGEN1;

CISMeF acronym : PAGEN; PAGEN1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PAGEN; Pancreatic hypoplasia, congenital;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the pancreas/duodenum homeobox protein 1 gene (PDX1, 600733.0001);

Laboratory abnormalities : Serum C-peptide and glucagon levels measurable;

Prefixed ID : #260370;

Details

Origin ID

260370;

UMLS CUI

C3891828;

Automatic exact mappings (from CISMeF team)
- PDX1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Partial agenesis of pancreas (disorder) [SNOMED CT concept]
- Partial pancreatic agenesis [ORDO Disease]
- congenital pancreatic agenesis [Disease (Nov.)]
- pancreatic agenesis, congenital [MeSH concept]
- pancreatic agenesis, congenital [MeSH Supplementary Concept]
DO Cross reference
- pancreatic agenesis [DO Concept]
Genes related to phenotype
- Pancreas/duodenum homeobox protein 1 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Diabetes mellitus [HPO term]
- Exocrine pancreatic insufficiency [HPO term]
- Failure to thrive [HPO term]
- Intrauterine growth retardation [HPO term]
- Neonatal insulin-dependent diabetes mellitus [HPO term]
- Pancreatic hypoplasia [HPO term]
ORDO concept(s)
- Partial pancreatic agenesis [ORDO Disease]
Related ORDO disease(s)
- Partial pancreatic agenesis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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