MCID: TRY003
MIFTS: 14

Trypsinogen Deficiency

Categories: Endocrine diseases

Aliases & Classifications for Trypsinogen Deficiency

MalaCards integrated aliases for Trypsinogen Deficiency:

Name: Trypsinogen Deficiency 58 30 13 41
Pancreatic Trypsinogen Deficiency 74

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
trypsinogen deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 614044
MedGen 43 C0268417
UMLS 74 C0268417

Summaries for Trypsinogen Deficiency

MalaCards based summary : Trypsinogen Deficiency, is also known as pancreatic trypsinogen deficiency. An important gene associated with Trypsinogen Deficiency is PRSS1 (Serine Protease 1). Related phenotypes are anal atresia and failure to thrive

Description from OMIM: 614044

Related Diseases for Trypsinogen Deficiency

Symptoms & Phenotypes for Trypsinogen Deficiency

Human phenotypes related to Trypsinogen Deficiency:

33
# Description HPO Frequency HPO Source Accession
1 anal atresia 33 occasional (7.5%) HP:0002023
2 failure to thrive 33 HP:0001508
3 hypoproteinemia 33 HP:0003075

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Abdomen Gastrointestinal:
imperforate anus (in some patients)

Laboratory Abnormalities:
hypoproteinemia
normal sweat electrolytes
trypsinogen deficiency

Muscle Soft Tissue:
nutritional edema

Clinical features from OMIM:

614044

Drugs & Therapeutics for Trypsinogen Deficiency

Search Clinical Trials , NIH Clinical Center for Trypsinogen Deficiency

Genetic Tests for Trypsinogen Deficiency

Genetic tests related to Trypsinogen Deficiency:

# Genetic test Affiliating Genes
1 Trypsinogen Deficiency 30 PRSS1

Anatomical Context for Trypsinogen Deficiency

Publications for Trypsinogen Deficiency

Articles related to Trypsinogen Deficiency:

# Title Authors Year
1
50 Years Ago in The Journal of Pediatrics: Further Observations on Trypsinogen Deficiency Disease: Report of a Second Case. ( 28750766 )
2017
2
50 years ago in the Journal of Pediatrics: trypsinogen deficiency disease. ( 25620515 )
2015
3
Trypsinogen deficiency disease. ( 5006445 )
1967
4
TRYPSINOGEN DEFICIENCY DISEASE. ( 14258916 )
1965

Variations for Trypsinogen Deficiency

Expression for Trypsinogen Deficiency

Search GEO for disease gene expression data for Trypsinogen Deficiency.

Pathways for Trypsinogen Deficiency

GO Terms for Trypsinogen Deficiency

Sources for Trypsinogen Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....