ENTKD
MCID: ENT006
MIFTS: 23

Enterokinase Deficiency (ENTKD)

Categories: Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Enterokinase Deficiency

MalaCards integrated aliases for Enterokinase Deficiency:

Name: Enterokinase Deficiency 58 76 38 30 13 6 41 74
Enteropeptidase Deficiency 58 76 56
Congenital Enteropathy Due to Enteropeptidase Deficiency 60
Congenital Enterokinase Deficiency 60
Entkd 76

Characteristics:

Orphanet epidemiological data:

60
congenital enteropathy due to enteropeptidase deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
enterokinase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 226200
KEGG 38 H00988
ICD10 via Orphanet 35 K90.8
UMLS via Orphanet 75 C0268416
Orphanet 60 ORPHA168601
MedGen 43 C0268416
UMLS 74 C0268416

Summaries for Enterokinase Deficiency

UniProtKB/Swiss-Prot : 76 Enterokinase deficiency: Life-threatening intestinal malabsorption disorder characterized by diarrhea and failure to thrive.

MalaCards based summary : Enterokinase Deficiency, also known as enteropeptidase deficiency, is related to exocrine pancreatic insufficiency and arrhythmogenic right ventricular cardiomyopathy. An important gene associated with Enterokinase Deficiency is TMPRSS15 (Transmembrane Serine Protease 15). Affiliated tissues include testes, and related phenotypes are failure to thrive and diarrhea

Wikipedia : 77 Enteropeptidase (also called enterokinase) is an enzyme produced by cells of the duodenum and is... more...

Description from OMIM: 226200

Related Diseases for Enterokinase Deficiency

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

# Related Disease Score Top Affiliating Genes
1 exocrine pancreatic insufficiency 10.1
2 arrhythmogenic right ventricular cardiomyopathy 10.1
3 cystic fibrosis 10.1

Symptoms & Phenotypes for Enterokinase Deficiency

Human phenotypes related to Enterokinase Deficiency:

33
# Description HPO Frequency HPO Source Accession
1 failure to thrive 33 HP:0001508
2 diarrhea 33 HP:0002014
3 hypoproteinemia 33 HP:0003075
4 hypoproteinemic edema 33 HP:0007609

Symptoms via clinical synopsis from OMIM:

58
Growth:
failure to thrive

Skin:
hypoproteinemic edema

G I:
diarrhea

Lab:
enterokinase deficiency
enteropeptidase deficiency

Clinical features from OMIM:

226200

Drugs & Therapeutics for Enterokinase Deficiency

Search Clinical Trials , NIH Clinical Center for Enterokinase Deficiency

Genetic Tests for Enterokinase Deficiency

Genetic tests related to Enterokinase Deficiency:

# Genetic test Affiliating Genes
1 Enterokinase Deficiency 30 TMPRSS15

Anatomical Context for Enterokinase Deficiency

MalaCards organs/tissues related to Enterokinase Deficiency:

42
Testes

Publications for Enterokinase Deficiency

Articles related to Enterokinase Deficiency:

(show all 14)
# Title Authors Year
1
Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency. ( 11719902 )
2002
2
[Congenital enterokinase deficiency]. ( 9645159 )
1998
3
Arrhythmogenic right ventricular dysplasia in a child with congenital enteropeptidase deficiency and hypogammaglobulinaemia. ( 2735884 )
1989
4
Enterokinase deficiency and vitamin B12 absorption. ( 6360788 )
1984
5
Primary intestinal enteropeptidase deficiency. ( 6384461 )
1984
6
Isolated congenital enterokinase deficiency. Recent findings and review of the literature. ( 6347801 )
1983
7
Intestinal enteropeptidase deficiency associated with exocrine pancreatic insufficiency. ( 6125673 )
1982
8
Intestinal enterokinase deficiency. ( 961414 )
1976
9
Intestinal enterokinase deficiency. Occurrence in two sibs and age dependency of clinical expression. ( 1147667 )
1975
10
Rapid semiquantitative tests for trypsin and chymotrypsin application to screening for cystic fibrosis, enterokinase deficiency and pancreatic hypoplasia in neonates. ( 4527956 )
1974
11
Malabsorption and growth failure due to intestinal enterokinase deficiency. ( 4322674 )
1971
12
The activation of human pancreatic proteinases. Studies on human pancreatic juice and duodenal juice of four children with intestinal enterokinase deficiency. ( 5579874 )
1971
13
Intestinal enterokinase deficiency. A newly-recognized disorder of protein digestion. ( 5477679 )
1970
14
Intestinal enterokinase deficiency. ( 4180366 )
1969

Variations for Enterokinase Deficiency

ClinVar genetic disease variations for Enterokinase Deficiency:

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMPRSS15 PRSS7, 2-BP DEL, 2707GT deletion Pathogenic
2 TMPRSS15 NM_002772.2(TMPRSS15): c.2135C> G (p.Ser712Ter) single nucleotide variant Pathogenic rs77200626 GRCh37 Chromosome 21, 19685292: 19685292
3 TMPRSS15 NM_002772.2(TMPRSS15): c.2135C> G (p.Ser712Ter) single nucleotide variant Pathogenic rs77200626 GRCh38 Chromosome 21, 18312975: 18312975
4 TMPRSS15 NM_002772.2(TMPRSS15): c.2569C> T (p.Arg857Ter) single nucleotide variant Pathogenic rs121908059 GRCh37 Chromosome 21, 19653456: 19653456
5 TMPRSS15 NM_002772.2(TMPRSS15): c.2569C> T (p.Arg857Ter) single nucleotide variant Pathogenic rs121908059 GRCh38 Chromosome 21, 18281139: 18281139
6 TMPRSS15 NM_002772.2(TMPRSS15): c.781C> T (p.Gln261Ter) single nucleotide variant Pathogenic rs121908060 GRCh37 Chromosome 21, 19732173: 19732173
7 TMPRSS15 NM_002772.2(TMPRSS15): c.781C> T (p.Gln261Ter) single nucleotide variant Pathogenic rs121908060 GRCh38 Chromosome 21, 18359856: 18359856
8 TMPRSS15 NM_002772.2(TMPRSS15): c.1428+2T> G single nucleotide variant Pathogenic rs138221037 GRCh38 Chromosome 21, 18343504: 18343504
9 TMPRSS15 NM_002772.2(TMPRSS15): c.1428+2T> G single nucleotide variant Pathogenic rs138221037 GRCh37 Chromosome 21, 19715821: 19715821
10 TMPRSS15 NM_002772.2(TMPRSS15): c.151_155del (p.Ala51Trpfs) deletion Likely pathogenic rs1555909961 GRCh37 Chromosome 21, 19770637: 19770641
11 TMPRSS15 NM_002772.2(TMPRSS15): c.151_155del (p.Ala51Trpfs) deletion Likely pathogenic rs1555909961 GRCh38 Chromosome 21, 18398320: 18398324

Expression for Enterokinase Deficiency

Search GEO for disease gene expression data for Enterokinase Deficiency.

Pathways for Enterokinase Deficiency

GO Terms for Enterokinase Deficiency

Sources for Enterokinase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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