ENTKD
MCID: ENT006
MIFTS: 33

Enterokinase Deficiency (ENTKD)

Categories: Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Enterokinase Deficiency

MalaCards integrated aliases for Enterokinase Deficiency:

Name: Enterokinase Deficiency 57 12 72 36 29 13 6 44 15 39 70
Enteropeptidase Deficiency 57 72 54
Congenital Enteropathy Due to Enteropeptidase Deficiency 12 58
Congenital Enterokinase Deficiency 12 58
Deficiency of Enteropeptidase 12
Entkd 72

Characteristics:

Orphanet epidemiological data:

58
congenital enteropathy due to enteropeptidase deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
enterokinase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

Disease Ontology 12 DOID:0111667
OMIM® 57 226200
KEGG 36 H00988
MeSH 44 C562649
SNOMED-CT 67 190952002
ICD10 via Orphanet 33 K90.8
UMLS via Orphanet 71 C0268416
Orphanet 58 ORPHA168601
MedGen 41 C0268416
UMLS 70 C0268416

Summaries for Enterokinase Deficiency

OMIM® : 57 Deficiency of enterokinase, a sequence-specific protease that activates trypsinogen (see 276000) and has a major role in protein digestion, is an autosomal recessive disorder characterized by severe protein malabsorption in early infancy, with failure to thrive, chronic diarrhea, and generalized edema. In adulthood, patients have normal body weight and no gastrointestinal symptoms, even when pancreatic enzyme supplements are discontinued (summary by Holzinger et al., 2002). (226200) (Updated 05-Apr-2021)

MalaCards based summary : Enterokinase Deficiency, also known as enteropeptidase deficiency, is related to diarrhea and exocrine pancreatic insufficiency. An important gene associated with Enterokinase Deficiency is TMPRSS15 (Transmembrane Serine Protease 15), and among its related pathways/superpathways is Gastric acid production. Affiliated tissues include small intestine, and related phenotypes are failure to thrive and diarrhea

Disease Ontology : 12 An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has material basis in homozygous or compound heterozygous mutation in TMPRSS15 on chromosome 21q21.1.

KEGG : 36 Enterokinase deficiency is autosomal recessive defect leading to severe failure to thrive. Enterokinase is a serine protease of the intestinal brush border in the proximal small intestine. It activates the pancreatic proenzyme trypsinogen, which releases active digestive enzymes.

UniProtKB/Swiss-Prot : 72 Enterokinase deficiency: Life-threatening intestinal malabsorption disorder characterized by diarrhea and failure to thrive.

Wikipedia : 73 Enteropeptidase (also called enterokinase) is an enzyme produced by cells of the duodenum and is... more...

Related Diseases for Enterokinase Deficiency

Graphical network of the top 20 diseases related to Enterokinase Deficiency:



Diseases related to Enterokinase Deficiency

Symptoms & Phenotypes for Enterokinase Deficiency

Human phenotypes related to Enterokinase Deficiency:

31
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 diarrhea 31 HP:0002014
3 hypoproteinemia 31 HP:0003075
4 hypoproteinemic edema 31 HP:0007609

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth:
failure to thrive

Skin:
hypoproteinemic edema

G I:
diarrhea

Lab:
enterokinase deficiency
enteropeptidase deficiency

Clinical features from OMIM®:

226200 (Updated 05-Apr-2021)

Drugs & Therapeutics for Enterokinase Deficiency

Search Clinical Trials , NIH Clinical Center for Enterokinase Deficiency

Cochrane evidence based reviews: enterokinase deficiency

Genetic Tests for Enterokinase Deficiency

Genetic tests related to Enterokinase Deficiency:

# Genetic test Affiliating Genes
1 Enterokinase Deficiency 29 TMPRSS15

Anatomical Context for Enterokinase Deficiency

MalaCards organs/tissues related to Enterokinase Deficiency:

40
Small Intestine

Publications for Enterokinase Deficiency

Articles related to Enterokinase Deficiency:

(show all 28)
# Title Authors PMID Year
1
Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency. 6 57 61 54
11719902 2002
2
Malabsorption and growth failure due to intestinal enterokinase deficiency. 6 57 61
4322674 1971
3
Celiac disease in a patient with a congenital deficiency of intestinal enteropeptidase. 57 61 54
11467662 2001
4
Isolated congenital enterokinase deficiency. Recent findings and review of the literature. 61 57
6347801 1983
5
Intestinal enteropeptidase deficiency associated with exocrine pancreatic insufficiency. 57 61
6125673 1982
6
Intestinal enterokinase deficiency. 61 57
961414 1976
7
Enterokinase and trypsin activities in pancreatic insufficiency and diseases of the small intestine. 61 57
943355 1976
8
Intestinal enterokinase deficiency. Occurrence in two sibs and age dependency of clinical expression. 6 61
1147667 1975
9
Intestinal enterokinase deficiency. A newly-recognized disorder of protein digestion. 61 57
5477679 1970
10
Intestinal enterokinase deficiency. 57 61
4180366 1969
11
[Congenital enterokinase deficiency]. 61 54
9645159 1998
12
Enterokinase. 54 61
8208733 1994
13
Novel Compound Heterozygous TMPRSS15 Gene Variants Cause Enterokinase Deficiency. 61
33061943 2020
14
Congenital diseases of the gastrointestinal tract. 61
24940857 2014
15
Rare genetic diseases with human lean and/or starvation phenotype open new avenues for obesity and type II diabetes treatment. 61
24725128 2014
16
Enteropeptidase: a gene associated with a starvation human phenotype and a novel target for obesity treatment. 61
23185382 2012
17
Arrhythmogenic right ventricular dysplasia in a child with congenital enteropeptidase deficiency and hypogammaglobulinaemia. 61
2735884 1989
18
[The current status of the problem of enterokinase deficiency]. 61
3068902 1988
19
Primary intestinal enteropeptidase deficiency. 61
6384461 1984
20
Enterokinase deficiency and vitamin B12 absorption. 61
6360788 1984
21
The two human trypsinogens. Evidence of complex formation with basic pancreatic trypsin inhibitor-proteolytic activity. 61
40607 1979
22
[Congenital enterokinase deficiency]. 61
329214 1977
23
The interrelationship of enterokinase and trypsin activities in intractable diarrhea of infancy, celiac disease, and intravenous alimentation. 61
809741 1975
24
[Proceedings: Enterokinase deficiency]. 61
1178293 1975
25
Rapid semiquantitative tests for trypsin and chymotrypsin application to screening for cystic fibrosis, enterokinase deficiency and pancreatic hypoplasia in neonates. 61
4527956 1974
26
The activation of human pancreatic proteinases. Studies on human pancreatic juice and duodenal juice of four children with intestinal enterokinase deficiency. 61
5579874 1971
27
[Trypsinogen pseudo-deficiency caused by congenital enterokinase deficiency. Enzyme study]. 61
5473165 1970
28
[Trypsinogen pseudo-deficiency caused by congenital enterokinase deficiency. Clinical study]. 61
5488678 1970

Variations for Enterokinase Deficiency

ClinVar genetic disease variations for Enterokinase Deficiency:

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TMPRSS15 NM_002772.3(TMPRSS15):c.2707_2708del (p.Val903fs) Deletion Pathogenic 4167 rs780802518 GRCh37: 21:19651337-19651338
GRCh38: 21:18279020-18279021
2 TMPRSS15 NM_002772.3(TMPRSS15):c.2569C>T (p.Arg857Ter) SNV Pathogenic 4165 rs121908059 GRCh37: 21:19653456-19653456
GRCh38: 21:18281139-18281139
3 TMPRSS15 NM_002772.3(TMPRSS15):c.781C>T (p.Gln261Ter) SNV Pathogenic 4166 rs121908060 GRCh37: 21:19732173-19732173
GRCh38: 21:18359856-18359856
4 TMPRSS15 NM_002772.3(TMPRSS15):c.1428+2T>G SNV Pathogenic 202209 rs138221037 GRCh37: 21:19715821-19715821
GRCh38: 21:18343504-18343504
5 TMPRSS15 NM_002772.3(TMPRSS15):c.1512del (p.Ser505fs) Deletion Pathogenic 1028048 GRCh37: 21:19713782-19713782
GRCh38: 21:18341465-18341465
6 TMPRSS15 NM_002772.3(TMPRSS15):c.2033-1G>A SNV Pathogenic 1032088 GRCh37: 21:19685395-19685395
GRCh38: 21:18313078-18313078
7 TMPRSS15 NM_002772.3(TMPRSS15):c.2599_2600insGATTAATAGAT (p.His867fs) Insertion Pathogenic 1032843 GRCh37: 21:19653425-19653426
GRCh38: 21:18281108-18281109
8 TMPRSS15 NM_002772.3(TMPRSS15):c.961G>T (p.Glu321Ter) SNV Pathogenic 1032845 GRCh37: 21:19726100-19726100
GRCh38: 21:18353783-18353783
9 TMPRSS15 NM_002772.3(TMPRSS15):c.151_155del (p.Ala51fs) Deletion Likely pathogenic 523101 rs1555909961 GRCh37: 21:19770637-19770641
GRCh38: 21:18398320-18398324
10 TMPRSS15 NM_002772.3(TMPRSS15):c.2294del (p.Leu765fs) Deletion Likely pathogenic 973545 GRCh37: 21:19666937-19666937
GRCh38: 21:18294620-18294620
11 TMPRSS15 NM_002772.3(TMPRSS15):c.2325del (p.Lys775fs) Deletion Likely pathogenic 973546 GRCh37: 21:19666748-19666748
GRCh38: 21:18294431-18294431
12 TMPRSS15 NM_002772.3(TMPRSS15):c.2135C>G (p.Ser712Ter) SNV Conflicting interpretations of pathogenicity 4164 rs77200626 GRCh37: 21:19685292-19685292
GRCh38: 21:18312975-18312975
13 TMPRSS15 NM_002772.3(TMPRSS15):c.1391A>G (p.Tyr464Cys) SNV Uncertain significance 1028046 GRCh37: 21:19715860-19715860
GRCh38: 21:18343543-18343543
14 TMPRSS15 NM_002772.3(TMPRSS15):c.1471G>A (p.Ala491Thr) SNV Uncertain significance 1028047 GRCh37: 21:19713823-19713823
GRCh38: 21:18341506-18341506
15 TMPRSS15 NM_002772.3(TMPRSS15):c.44G>A (p.Ser15Asn) SNV Uncertain significance 1032844 GRCh37: 21:19775896-19775896
GRCh38: 21:18403579-18403579

Expression for Enterokinase Deficiency

Search GEO for disease gene expression data for Enterokinase Deficiency.

Pathways for Enterokinase Deficiency

Pathways related to Enterokinase Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.47 SCT CCK

GO Terms for Enterokinase Deficiency

Molecular functions related to Enterokinase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.62 SCT CCK

Sources for Enterokinase 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....