MCID: TRY003
MIFTS: 14

Trypsinogen Deficiency

Categories: Endocrine diseases

Aliases & Classifications for Trypsinogen Deficiency

MalaCards integrated aliases for Trypsinogen Deficiency:

Name: Trypsinogen Deficiency 57 29 13 40
Pancreatic Trypsinogen Deficiency 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
trypsinogen deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614044
MedGen 42 C0268417
UMLS 73 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 failure to thrive and anal atresia

Description from OMIM: 614044

Related Diseases for Trypsinogen Deficiency

Symptoms & Phenotypes for Trypsinogen Deficiency

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Trypsinogen Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 anal atresia 32 occasional (7.5%) HP:0002023
3 hypoproteinemia 32 HP:0003075

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 29 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....