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 46 9 22
 
Pancreatic Trypsinogen Deficiency 61


Classifications:



External Ids:

OMIM46 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:46 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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Drug clinical trials:

Search ClinicalTrials for Trypsinogen Deficiency

Search 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 Deficiency22

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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet