Details of Disease

General Information of Disease (ID: DISMAF1O)

Disease Name Pancreatic agenesis 1
Synonyms PAGEN1; pancreatic hypoplasia, congenital; Pagen; pancreatic agenesis 1; PDX1 pancreatic agenesis; pancreatic agenesis caused by mutation in PDX1
Definition Any pancreatic agenesis in which the cause of the disease is a mutation in the PDX1 gene.
Disease Hierarchy
DISTVEYC: Pancreatic agenesis
DISMAF1O: Pancreatic agenesis 1
Disease Identifiers
MONDO ID
MONDO_0024547
UMLS CUI
C3891828
OMIM ID
260370
MedGen ID
856095

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PDX1 TT8SGZK moderate Biomarker [1]
PDX1 TT8SGZK Definitive Autosomal recessive [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PDX1 OTX1DKRA Definitive Autosomal recessive [2]
------------------------------------------------------------------------------------

References

1 [Clinical significance of anti-HBc and IgM.anti-HBc].Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 1988 Apr;10(2):104-9.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.