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 57 75 37 29 13 6 40 73
Enteropeptidase Deficiency 57 75 55
Congenital Enteropathy Due to Enteropeptidase Deficiency 59
Congenital Enterokinase Deficiency 59
Entkd 75

Characteristics:

Orphanet epidemiological data:

59
congenital enteropathy due to enteropeptidase deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
enterokinase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 226200
Orphanet 59 ORPHA168601
ICD10 via Orphanet 34 K90.8
UMLS via Orphanet 74 C0268416
MedGen 42 C0268416
KEGG 37 H00988
UMLS 73 C0268416

Summaries for Enterokinase Deficiency

UniProtKB/Swiss-Prot : 75 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 cystic fibrosis. 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 : 76 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 cystic fibrosis 10.0

Symptoms & Phenotypes for Enterokinase Deficiency

Symptoms via clinical synopsis from OMIM:

57
Growth:
failure to thrive

Skin:
hypoproteinemic edema

G I:
diarrhea

Lab:
enterokinase deficiency
enteropeptidase deficiency


Clinical features from OMIM:

226200

Human phenotypes related to Enterokinase Deficiency:

32
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 diarrhea 32 HP:0002014
3 hypoproteinemia 32 HP:0003075
4 hypoproteinemic edema 32 HP:0007609

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 29 TMPRSS15

Anatomical Context for Enterokinase Deficiency

MalaCards organs/tissues related to Enterokinase Deficiency:

41
Testes

Publications for Enterokinase Deficiency

Articles related to Enterokinase Deficiency:

(show all 11)
# Title Authors Year
1
[Congenital enterokinase deficiency]. ( 9645159 )
1998
2
Enterokinase deficiency and vitamin B12 absorption. ( 6360788 )
1984
3
Primary intestinal enteropeptidase deficiency. ( 6384461 )
1984
4
Isolated congenital enterokinase deficiency. Recent findings and review of the literature. ( 6347801 )
1983
5
Intestinal enterokinase deficiency. ( 961414 )
1976
6
Intestinal enterokinase deficiency. Occurrence in two sibs and age dependency of clinical expression. ( 1147667 )
1975
7
Rapid semiquantitative tests for trypsin and chymotrypsin application to screening for cystic fibrosis, enterokinase deficiency and pancreatic hypoplasia in neonates. ( 4527956 )
1974
8
Malabsorption and growth failure due to intestinal enterokinase deficiency. ( 4322674 )
1971
9
The activation of human pancreatic proteinases. Studies on human pancreatic juice and duodenal juice of four children with intestinal enterokinase deficiency. ( 5579874 )
1971
10
Intestinal enterokinase deficiency. A newly-recognized disorder of protein digestion. ( 5477679 )
1970
11
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 GRCh37 Chromosome 21, 19770637: 19770641
11 TMPRSS15 NM_002772.2(TMPRSS15): c.151_155del (p.Ala51Trpfs) deletion Likely pathogenic 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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