MCID: TRY003
MIFTS: 14

Trypsinogen Deficiency

Categories: Endocrine diseases

Aliases & Classifications for Trypsinogen Deficiency

MalaCards integrated aliases for Trypsinogen Deficiency:

Name: Trypsinogen Deficiency 53 28 13
Pancreatic Trypsinogen Deficiency 69

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
trypsinogen deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 614044
MedGen 39 C0268417
UMLS 69 C0268417

Summaries for Trypsinogen Deficiency

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: 614044

Related Diseases for Trypsinogen Deficiency

Symptoms & Phenotypes for Trypsinogen Deficiency

Symptoms via clinical synopsis from OMIM:

53
Growth Other:
failure to thrive

Muscle Soft Tissue:
nutritional edema

Abdomen Gastroin testinal:
imperforate anus (in some patients)

Laboratory Abnormalities:
trypsinogen deficiency
hypoproteinemia
normal sweat electrolytes


Clinical features from OMIM:

614044

Human phenotypes related to Trypsinogen Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 anal atresia 31 occasional (7.5%) HP:0002023
3 hypoproteinemia 31 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 28 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....