MCID: DRR013
MIFTS: 28

Diarrhea 8, Secretory Sodium, Congenital

Categories: Genetic diseases, Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Diarrhea 8, Secretory Sodium, Congenital

MalaCards integrated aliases for Diarrhea 8, Secretory Sodium, Congenital:

Name: Diarrhea 8, Secretory Sodium, Congenital 57 75 29 6
Diar8 57 12 75
Congenital Secretory Diarrhea, Sodium Type 73
Congenital Secretory Sodium Diarrhea 8 12
Diarrhea, Congenital Sodium; Csd 57
Diarrhea, Congenital Sodium 57
Congenital Sodium Diarrhea 59
Na-H Exchange Deficiency 59
Csd 57

Characteristics:

Orphanet epidemiological data:

59
congenital sodium diarrhea
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
secretory diarrhea begins prenatally
inflammatory bowel disease may develop in childhood or adolescence


HPO:

32
diarrhea 8, secretory sodium, congenital:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616868
Disease Ontology 12 DOID:0060777
ICD10 33 P78.3
Orphanet 59 ORPHA103908
UMLS via Orphanet 74 C0267663
ICD10 via Orphanet 34 P78.3
MeSH 44 D003968
UMLS 73 C0267663

Summaries for Diarrhea 8, Secretory Sodium, Congenital

UniProtKB/Swiss-Prot : 75 Diarrhea 8, secretory sodium, congenital: A disease characterized by watery secretory diarrhea with prenatal onset, prominent abdominal distension after birth due to dilated fluid-filled loops of intestine, elevated fecal sodium concentrations and low urinary sodium concentrations.

MalaCards based summary : Diarrhea 8, Secretory Sodium, Congenital, also known as diar8, is related to cat-scratch disease and neuroretinitis, and has symptoms including diarrhea and watery diarrhea. An important gene associated with Diarrhea 8, Secretory Sodium, Congenital is SLC9A3 (Solute Carrier Family 9 Member A3). Related phenotypes are polyhydramnios and inflammation of the large intestine

Disease Ontology : 12 A secretory diarrhea that has material basis in homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15.

Description from OMIM: 616868

Related Diseases for Diarrhea 8, Secretory Sodium, Congenital

Diseases related to Diarrhea 8, Secretory Sodium, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 cat-scratch disease 11.6
2 neuroretinitis 11.3
3 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies 11.2
4 diarrhea 5, with tufting enteropathy, congenital 11.0
5 migraine without aura 9.8
6 conduct disorder 9.8
7 lymphadenitis 9.8
8 optic nerve disease 9.8
9 cervicitis 9.8
10 cervical adenitis 9.8
11 neuropathy 9.8
12 congenital diarrhea 9.6 SLC9A3 SPINT2
13 secretory diarrhea 9.5 SLC9A3 SPINT2
14 diarrhea 9.2 SLC9A3 SPINT2

Graphical network of the top 20 diseases related to Diarrhea 8, Secretory Sodium, Congenital:



Diseases related to Diarrhea 8, Secretory Sodium, Congenital

Symptoms & Phenotypes for Diarrhea 8, Secretory Sodium, Congenital

Symptoms via clinical synopsis from OMIM:

57
Abdomen External Features:
abdominal distension at birth, prominent

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Abdomen Gastrointestinal:
dilated fluid-filled loops of intestine at birth
watery diarrhea
elevated fecal sodium concentrations
inflammatory bowel disease (in some patients)

Laboratory Abnormalities:
elevated fecal sodium concentrations
low urinary sodium concentrations


Clinical features from OMIM:

616868

Human phenotypes related to Diarrhea 8, Secretory Sodium, Congenital:

32
# Description HPO Frequency HPO Source Accession
1 polyhydramnios 32 very rare (1%) HP:0001561
2 inflammation of the large intestine 32 occasional (7.5%) HP:0002037
3 abdominal distention 32 HP:0003270
4 secretory diarrhea 32 HP:0005208

UMLS symptoms related to Diarrhea 8, Secretory Sodium, Congenital:


diarrhea, watery diarrhea

Drugs & Therapeutics for Diarrhea 8, Secretory Sodium, Congenital

Search Clinical Trials , NIH Clinical Center for Diarrhea 8, Secretory Sodium, Congenital

Genetic Tests for Diarrhea 8, Secretory Sodium, Congenital

Genetic tests related to Diarrhea 8, Secretory Sodium, Congenital:

# Genetic test Affiliating Genes
1 Diarrhea 8, Secretory Sodium, Congenital 29 SLC9A3

Anatomical Context for Diarrhea 8, Secretory Sodium, Congenital

Publications for Diarrhea 8, Secretory Sodium, Congenital

Articles related to Diarrhea 8, Secretory Sodium, Congenital:

# Title Authors Year
1
Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea. ( 26358773 )
2015
2
Functional analysis of a missense mutation in the serine protease inhibitor SPINT2 associated with congenital sodium diarrhea. ( 24722141 )
2014
3
Nucleotide sequence of the Na+/H+ exchanger-8 in patients with congenital sodium diarrhea. ( 21666503 )
2011
4
Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea. ( 20009592 )
2010
5
Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea. ( 19185281 )
2009
6
Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes. ( 11113072 )
2000
7
Treatment of an infant with congenital sodium diarrhea by oral rehydration. ( 8460545 )
1993

Variations for Diarrhea 8, Secretory Sodium, Congenital

UniProtKB/Swiss-Prot genetic disease variations for Diarrhea 8, Secretory Sodium, Congenital:

75
# Symbol AA change Variation ID SNP ID
1 SLC9A3 p.Ala269Thr VAR_076420 rs869312807
2 SLC9A3 p.Ala311Val VAR_076421 rs869312806
3 SLC9A3 p.Arg382Gln VAR_076422 rs766076524

ClinVar genetic disease variations for Diarrhea 8, Secretory Sodium, Congenital:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC9A3 NM_004174.3(SLC9A3): c.932C> T (p.Ala311Val) single nucleotide variant Pathogenic rs869312806 GRCh37 Chromosome 5, 484635: 484635
2 SLC9A3 NM_004174.3(SLC9A3): c.932C> T (p.Ala311Val) single nucleotide variant Pathogenic rs869312806 GRCh38 Chromosome 5, 484520: 484520
3 SLC9A3 NM_004174.3(SLC9A3): c.350_352delTCT (p.Phe117del) deletion Pathogenic rs776026092 GRCh37 Chromosome 5, 492046: 492048
4 SLC9A3 NM_004174.3(SLC9A3): c.350_352delTCT (p.Phe117del) deletion Pathogenic rs776026092 GRCh38 Chromosome 5, 491931: 491933
5 SLC9A3 NM_004174.3(SLC9A3): c.1145G> A (p.Arg382Gln) single nucleotide variant Pathogenic rs766076524 GRCh37 Chromosome 5, 483385: 483385
6 SLC9A3 NM_004174.3(SLC9A3): c.1145G> A (p.Arg382Gln) single nucleotide variant Pathogenic rs766076524 GRCh38 Chromosome 5, 483270: 483270
7 SLC9A3 NM_004174.3(SLC9A3): c.1745delC (p.Ser582Leufs) deletion Pathogenic rs869320692 GRCh37 Chromosome 5, 477462: 477462
8 SLC9A3 NM_004174.3(SLC9A3): c.1745delC (p.Ser582Leufs) deletion Pathogenic rs869320692 GRCh38 Chromosome 5, 477347: 477347
9 SLC9A3 NM_004174.3(SLC9A3): c.805G> A (p.Ala269Thr) single nucleotide variant Pathogenic rs869312807 GRCh37 Chromosome 5, 484762: 484762
10 SLC9A3 NM_004174.3(SLC9A3): c.805G> A (p.Ala269Thr) single nucleotide variant Pathogenic rs869312807 GRCh38 Chromosome 5, 484647: 484647
11 SLC9A3 NM_004174.3(SLC9A3): c.782dupG (p.Thr262Hisfs) duplication Pathogenic rs869320759 GRCh37 Chromosome 5, 484785: 484785
12 SLC9A3 NM_004174.3(SLC9A3): c.782dupG (p.Thr262Hisfs) duplication Pathogenic rs869320759 GRCh38 Chromosome 5, 484670: 484670

Expression for Diarrhea 8, Secretory Sodium, Congenital

Search GEO for disease gene expression data for Diarrhea 8, Secretory Sodium, Congenital.

Pathways for Diarrhea 8, Secretory Sodium, Congenital

GO Terms for Diarrhea 8, Secretory Sodium, Congenital

Sources for Diarrhea 8, Secretory Sodium, Congenital

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