DIAR8
MCID: DRR013
MIFTS: 28

Diarrhea 8, Secretory Sodium, Congenital (DIAR8)

Categories: Gastrointestinal diseases, Genetic 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 58 76 30 6
Diar8 58 12 76
Congenital Secretory Diarrhea, Sodium Type 74
Congenital Secretory Sodium Diarrhea 8 12
Diarrhea, Congenital Sodium; Csd 58
Diarrhea, Congenital Sodium 58
Congenital Sodium Diarrhea 60
Na-H Exchange Deficiency 60
Csd 58

Characteristics:

Orphanet epidemiological data:

60
congenital sodium diarrhea
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
diarrhea 8, secretory sodium, congenital:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060777
OMIM 58 616868
MeSH 45 D003968
ICD10 34 P78.3
ICD10 via Orphanet 35 P78.3
UMLS via Orphanet 75 C0267663
Orphanet 60 ORPHA103908
UMLS 74 C0267663

Summaries for Diarrhea 8, Secretory Sodium, Congenital

UniProtKB/Swiss-Prot : 76 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 diarrhea and cat-scratch disease, 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 inflammation of the large intestine and polyhydramnios

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 19)
# Related Disease Score Top Affiliating Genes
1 diarrhea 29.5 SLC9A3 SPINT2
2 cat-scratch disease 11.9
3 neuroretinitis 11.5
4 diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies 11.4
5 diarrhea 5, with tufting enteropathy, congenital 11.1
6 migraine with or without aura 1 10.0
7 skin disease 10.0
8 migraine without aura 10.0
9 conduct disorder 10.0
10 lymphadenitis 10.0
11 optic nerve disease 10.0
12 cervical adenitis 10.0
13 neuropathy 10.0
14 depression 10.0
15 headache 10.0
16 coloboma of macula 9.9
17 inflammatory bowel disease 9.9
18 congenital diarrhea 9.7 SLC9A3 SPINT2
19 secretory diarrhea 9.6 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

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

33
# Description HPO Frequency HPO Source Accession
1 inflammation of the large intestine 33 occasional (7.5%) HP:0002037
2 polyhydramnios 33 very rare (1%) HP:0001561
3 abdominal distention 33 HP:0003270
4 secretory diarrhea 33 HP:0005208

Symptoms via clinical synopsis from OMIM:

58
Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Abdomen External Features:
abdominal distension at birth, prominent

Abdomen Gastrointestinal:
watery diarrhea
dilated fluid-filled loops of intestine at birth
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

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 30 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
SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase. ( 30445423 )
2018
2
Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys). ( 29575628 )
2018
3
Congenital Sodium Diarrhea: A Form of Intractable Diarrhea, With a Link to Inflammatory Bowel Disease. ( 26835907 )
2016
4
Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea. ( 26358773 )
2015
5
Functional analysis of a missense mutation in the serine protease inhibitor SPINT2 associated with congenital sodium diarrhea. ( 24722141 )
2014
6
Nucleotide sequence of the Na+/H+ exchanger-8 in patients with congenital sodium diarrhea. ( 21666503 )
2011
7
Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea. ( 20009592 )
2010
8
Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea. ( 19185281 )
2009
9
Congenital sodium diarrhea is an autosomal recessive disorder of sodium/proton exchange but unrelated to known candidate genes. ( 11113072 )
2000
10
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:

76
# 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 16)
# 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.782dup (p.Thr262Hisfs) duplication Pathogenic rs869320759 GRCh37 Chromosome 5, 484785: 484785
12 SLC9A3 NM_004174.3(SLC9A3): c.782dup (p.Thr262Hisfs) duplication Pathogenic rs869320759 GRCh38 Chromosome 5, 484670: 484670
13 SLC9A3 NM_004174.3(SLC9A3): c.1814G> A (p.Arg605Gln) single nucleotide variant Uncertain significance rs146547322 GRCh38 Chromosome 5, 476619: 476619
14 SLC9A3 NM_004174.3(SLC9A3): c.1814G> A (p.Arg605Gln) single nucleotide variant Uncertain significance rs146547322 GRCh37 Chromosome 5, 476734: 476734
15 SLC9A3 NM_004174.3(SLC9A3): c.932+1G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 5, 484634: 484634
16 SLC9A3 NM_004174.3(SLC9A3): c.932+1G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome 5, 484519: 484519

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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