MCID: TRY003
MIFTS: 13

Trypsinogen Deficiency malady

Category: Endocrine diseases

Aliases & Classifications for Trypsinogen Deficiency

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Aliases & Descriptions for Trypsinogen Deficiency:

Name: Trypsinogen Deficiency 52 27 12
 
Pancreatic Trypsinogen Deficiency 68

Characteristics:

HPO:

64
trypsinogen deficiency:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 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 failure to thrive, anal atresia and hypoproteinemia. An important gene associated with Trypsinogen Deficiency is PRSS1 (Protease, Serine 1).

Description from OMIM:52 614044

Related Diseases for Trypsinogen Deficiency

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Symptoms & Phenotypes for Trypsinogen Deficiency

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Symptoms by clinical synopsis from OMIM:

614044

Clinical features from OMIM:

614044

Human phenotypes related to Trypsinogen Deficiency:

 64
id Description HPO Frequency HPO Source Accession
1 failure to thrive64 HP:0001508
2 anal atresia64 HP:0002023
3 hypoproteinemia64 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 Deficiency27

Anatomical Context for Trypsinogen Deficiency

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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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet