MCID: TRY003
MIFTS: 13

Trypsinogen Deficiency malady

Category: Endocrine diseases

Aliases & Classifications for Trypsinogen Deficiency

About this section

Aliases & Descriptions for Trypsinogen Deficiency:

Name: Trypsinogen Deficiency 50 25 12
 
Pancreatic Trypsinogen Deficiency 66

Characteristics:

HPO:

62
trypsinogen deficiency:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 614044

Summaries for Trypsinogen Deficiency

About this section
MalaCards based summary: Trypsinogen Deficiency, is also known as pancreatic trypsinogen deficiency, and has symptoms including anal atresia, failure to thrive and hypoproteinemia. An important gene associated with Trypsinogen Deficiency is PRSS1 (Protease, Serine 1).

Description from OMIM:50 614044

Related Diseases for Trypsinogen Deficiency

About this section

Symptoms for Trypsinogen Deficiency

About this section

Symptoms by clinical synopsis from OMIM:

614044

Clinical features from OMIM:

614044

HPO human phenotypes related to Trypsinogen Deficiency:

id Description Frequency HPO Source Accession
1 anal atresia rare (5%) HP:0002023
2 failure to thrive HP:0001508
3 hypoproteinemia HP:0003075

Drugs & Therapeutics for Trypsinogen Deficiency

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Trypsinogen Deficiency

Genetic Tests for Trypsinogen Deficiency

About this section

Genetic tests related to Trypsinogen Deficiency:

id Genetic test Affiliating Genes
1 Trypsinogen Deficiency25

Anatomical Context for Trypsinogen Deficiency

About this section

Animal Models for Trypsinogen Deficiency or affiliated genes

About this section

Publications for Trypsinogen Deficiency

About this section

Articles related to Trypsinogen Deficiency:

idTitleAuthorsYear
1
50 years ago in the Journal of Pediatrics: trypsinogen deficiency disease. (25620515)
2015
2
Trypsinogen deficiency disease. (5006445)
1967
3
TRYPSINOGEN DEFICIENCY DISEASE. (14258916)
1965

Variations for Trypsinogen Deficiency

About this section

Expression for genes affiliated with Trypsinogen Deficiency

About this section
Search GEO for disease gene expression data for Trypsinogen Deficiency.

Pathways for genes affiliated with Trypsinogen Deficiency

About this section

GO Terms for genes affiliated with Trypsinogen Deficiency

About this section

Sources for Trypsinogen Deficiency

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet