MCID: TRY003
MIFTS: 12

Trypsinogen Deficiency malady

Endocrine diseases category

Aliases & Classifications for Trypsinogen Deficiency

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Aliases & Descriptions for Trypsinogen Deficiency:

Name: Trypsinogen Deficiency 49 11 24
 
Pancreatic Trypsinogen Deficiency 65


Classifications:



External Ids:

OMIM49 614044

Summaries for Trypsinogen Deficiency

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

Description from OMIM:49 614044

Related Diseases for Trypsinogen Deficiency

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Symptoms for Trypsinogen Deficiency

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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 autosomal recessive inheritance HP:0000007
3 failure to thrive HP:0001508
4 hypoproteinemia HP:0003075

Drugs & Therapeutics for Trypsinogen Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Trypsinogen Deficiency

Genetic Tests for Trypsinogen Deficiency

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Genetic tests related to Trypsinogen Deficiency:

id Genetic test Affiliating Genes
1 Trypsinogen Deficiency24

Anatomical Context for Trypsinogen Deficiency

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Animal Models for Trypsinogen Deficiency or affiliated genes

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Publications for Trypsinogen Deficiency

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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

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Expression for genes affiliated with Trypsinogen Deficiency

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Search GEO for disease gene expression data for Trypsinogen Deficiency.

Pathways for genes affiliated with Trypsinogen Deficiency

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GO Terms for genes affiliated with Trypsinogen Deficiency

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Sources for Trypsinogen Deficiency

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet