MCID: TRY003
MIFTS: 14

Trypsinogen Deficiency

Aliases & Classifications for Trypsinogen Deficiency

MalaCards integrated aliases for Trypsinogen Deficiency:

Name: Trypsinogen Deficiency 54 29 13
Pancreatic Trypsinogen Deficiency 69

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
trypsinogen deficiency:
Inheritance autosomal recessive inheritance


Summaries for Trypsinogen Deficiency

MalaCards based summary : Trypsinogen Deficiency, is also known as pancreatic trypsinogen deficiency, and has symptoms including failure to thrive, hypoproteinemia and anal atresia. 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:

54

Laboratory- Abnormalities:
hypoproteinemia
normal sweat electrolytes
trypsinogen deficiency

Abdomen- Gastroin testinal:
imperforate anus (in some patients)

Muscle Soft Tissue:
nutritional edema

Growth- Other:
failure to thrive


Clinical features from OMIM:

614044

Human phenotypes related to Trypsinogen Deficiency:

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

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:

id Genetic test Affiliating Genes
1 Trypsinogen Deficiency 29

Anatomical Context for Trypsinogen Deficiency

Publications for Trypsinogen Deficiency

Articles related to Trypsinogen Deficiency:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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