Details of Disease | DrugMAP

General Information of Disease (ID: DISTVEYC)

Disease Name	Pancreatic agenesis
Synonyms	pancreatic agenesis 1; PAGEN1; partial pancreatic agenesis; congenital pancreatic agenesis; partial agenesis of the pancreas; pancreatic agenesis type 1
Definition	Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.
Disease Hierarchy	DISQCXZX: Disorder of development or morphogenesis DISYKSRF: Genetic disease DISTVEYC: Pancreatic agenesis
Disease Identifiers	MONDO ID MONDO_0009832 UMLS CUI C5195568 MedGen ID 1681783 Orphanet ID 2805

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PDX1	TT8SGZK	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PDX1	OTX1DKRA	Supportive	Autosomal recessive	[1]
PTF1A	OT7SWA57	Supportive	Autosomal recessive	[2]
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References

1	Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. Nat Genet. 1997 Jan;15(1):106-10. doi: 10.1038/ng0197-106.
2	Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis. Nat Genet. 2014 Jan;46(1):61-64. doi: 10.1038/ng.2826. Epub 2013 Nov 10.