MCID: TRY003
MIFTS: 18

Trypsinogen Deficiency

Categories: Endocrine diseases

Aliases & Classifications for Trypsinogen Deficiency

MalaCards integrated aliases for Trypsinogen Deficiency:

Name: Trypsinogen Deficiency 57 29 13 6 39
Pancreatic Trypsinogen Deficiency 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
trypsinogen deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 614044
MedGen 41 C0268417
UMLS 70 C0268417

Summaries for Trypsinogen Deficiency

MalaCards based summary : Trypsinogen Deficiency, also known as pancreatic trypsinogen deficiency, is related to johanson-blizzard syndrome and prss1-related hereditary pancreatitis. An important gene associated with Trypsinogen Deficiency is PRSS1 (Serine Protease 1). Related phenotypes are anal atresia and failure to thrive

More information from OMIM: 614044

Related Diseases for Trypsinogen Deficiency

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

# Related Disease Score Top Affiliating Genes
1 johanson-blizzard syndrome 9.9
2 prss1-related hereditary pancreatitis 9.6 TRB PRSS1
3 pancreatitis 9.6 TRB PRSS1
4 pancreatitis, hereditary 9.5 TRB PRSS1

Symptoms & Phenotypes for Trypsinogen Deficiency

Human phenotypes related to Trypsinogen Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 anal atresia 31 occasional (7.5%) HP:0002023
2 failure to thrive 31 HP:0001508
3 hypoproteinemia 31 HP:0003075

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

Anatomical Context for Trypsinogen Deficiency

Publications for Trypsinogen Deficiency

Articles related to Trypsinogen Deficiency:

# Title Authors PMID Year
1
TRYPSINOGEN DEFICIENCY DISEASE. 57 61
14258916 1965
2
50 Years Ago in The Journal of Pediatrics: Further Observations on Trypsinogen Deficiency Disease: Report of a Second Case. 61
28750766 2017
3
50 years ago in the Journal of Pediatrics: trypsinogen deficiency disease. 61
25620515 2015
4
[Congenital trypsinogen deficiency]. 61
9645161 1998
5
Trypsinogen deficiency disease. 61
5006445 1967
6
[Trypsinogen deficiency]. 61
5827059 1965

Variations for Trypsinogen Deficiency

ClinVar genetic disease variations for Trypsinogen Deficiency:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRB , PRSS1 NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile) SNV Pathogenic 11877 rs111033566 GRCh37: 7:142458451-142458451
GRCh38: 7:142750600-142750600
2 TRB , PRSS1 NM_002769.5(PRSS1):c.107C>G (p.Pro36Arg) SNV Uncertain significance 459181 rs769459903 GRCh37: 7:142458472-142458472
GRCh38: 7:142750621-142750621
3 TRB , PRSS1 NM_002769.5(PRSS1):c.135C>A (p.Tyr45Ter) SNV Uncertain significance 983116 GRCh37: 7:142458500-142458500
GRCh38: 7:142750649-142750649

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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