MCID: TRY003
MIFTS: 12

Trypsinogen Deficiency malady

Category: Endocrine diseases

Aliases & Classifications for Trypsinogen Deficiency

About this section

Aliases & Descriptions for Trypsinogen Deficiency:

Name: Trypsinogen Deficiency 51 26 12
 
Pancreatic Trypsinogen Deficiency 67

Characteristics:

HPO:

63
trypsinogen deficiency:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 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:51 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

Human phenotypes related to Trypsinogen Deficiency:

 63
id Description HPO Frequency HPO Source Accession
1 anal atresia63 rare (5%) HP:0002023
2 failure to thrive63 HP:0001508
3 hypoproteinemia63 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 Deficiency26

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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet