MCID: TRY003
MIFTS: 15

Trypsinogen Deficiency malady

Category: Endocrine diseases

Aliases & Classifications for Trypsinogen Deficiency

About this section

Aliases & Descriptions for Trypsinogen Deficiency:

Name: Trypsinogen Deficiency 49 11 24
 
Pancreatic Trypsinogen Deficiency 65

Characteristics:

HPO:

61
trypsinogen deficiency:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 614044
UMLS65 C0268417

Summaries for Trypsinogen Deficiency

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

Description from OMIM:49 614044

Related Diseases for Trypsinogen Deficiency

About this section

Diseases related to Trypsinogen Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1renal cell carcinoma10.0
2pouchitis10.0

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

Anatomical Context for Trypsinogen Deficiency

About this section

MalaCards organs/tissues related to Trypsinogen Deficiency:

33
Bone

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
Predicting streptococcal pharyngitis in adults in primary care: a systematic review of the diagnostic accuracy of symptoms and signs and validation of the Centor score. (21631919)
2011
2
A device and procedure for immobilization of patients receiving limb-preserving radiotherapy for soft tissue sarcoma. (19647636)
2009
3
Recombinant bone morphogenetic protein-4, transforming growth factor-beta 1, and activin A enhance the cartilage phenotype of articular chondrocytes in vitro. (8299720)
1994

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
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