MCID: SYN164
MIFTS: 8

Syndromic Congenital Sodium Diarrhea

Categories: Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Syndromic Congenital Sodium Diarrhea

MalaCards integrated aliases for Syndromic Congenital Sodium Diarrhea:

Name: Syndromic Congenital Sodium Diarrhea 58
Syndromic Congenital Tufting Enteropathy 58

Classifications:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

Orphanet 58 ORPHA563708

Summaries for Syndromic Congenital Sodium Diarrhea

MalaCards based summary : Syndromic Congenital Sodium Diarrhea, also known as syndromic congenital tufting enteropathy, is related to diarrhea 5, with tufting enteropathy, congenital and diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies. An important gene associated with Syndromic Congenital Sodium Diarrhea is SPINT2 (Serine Peptidase Inhibitor, Kunitz Type 2).

Related Diseases for Syndromic Congenital Sodium Diarrhea

Diseases related to Syndromic Congenital Sodium Diarrhea via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 diarrhea 5, with tufting enteropathy, congenital 11.5
2 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies 11.5
3 diarrhea 9.9
4 polyhydramnios 9.9

Symptoms & Phenotypes for Syndromic Congenital Sodium Diarrhea

Drugs & Therapeutics for Syndromic Congenital Sodium Diarrhea

Search Clinical Trials , NIH Clinical Center for Syndromic Congenital Sodium Diarrhea

Genetic Tests for Syndromic Congenital Sodium Diarrhea

Anatomical Context for Syndromic Congenital Sodium Diarrhea

Publications for Syndromic Congenital Sodium Diarrhea

Articles related to Syndromic Congenital Sodium Diarrhea:

# Title Authors PMID Year
1
Matriptase drives early-onset intestinal failure in a mouse model of congenital tufting enteropathy. 61
31628112 2019
2
Isolated choanal and gut atresias: pathogenetic role of serine protease inhibitor type 2 (SPINT2) gene mutations unlikely. 61
29499739 2018
3
Selective Inhibition of Prostasin in Human Enterocytes by the Integral Membrane Kunitz-Type Serine Protease Inhibitor HAI-2. 61
28125689 2017

Variations for Syndromic Congenital Sodium Diarrhea

Expression for Syndromic Congenital Sodium Diarrhea

Search GEO for disease gene expression data for Syndromic Congenital Sodium Diarrhea.

Pathways for Syndromic Congenital Sodium Diarrhea

GO Terms for Syndromic Congenital Sodium Diarrhea

Sources for Syndromic Congenital Sodium Diarrhea

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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