Details of Disease

General Information of Disease (ID: DIS18YEZ)

Disease Name Pancreatic agenesis 2
Synonyms PAGEN2; pancreatic hypoplasia, congenital 2; pancreatic agenesis type 2; pancreatic agenesis 2; pancreatic agenesis caused by mutation in PTF1A; PTF1A pancreatic agenesis
Definition Any pancreatic agenesis in which the cause of the disease is a mutation in the PTF1A gene.
Disease Hierarchy
DISTVEYC: Pancreatic agenesis
DIS18YEZ: Pancreatic agenesis 2
Disease Identifiers
MONDO ID
MONDO_0014406
UMLS CUI
C4014737
OMIM ID
615935
MedGen ID
863174

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PTF1A OT7SWA57 Strong Autosomal recessive [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.