MCID: CNG064
MIFTS: 32

Congenital Chloride Diarrhea malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Congenital Chloride Diarrhea

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Aliases & Descriptions for Congenital Chloride Diarrhea:

Name: Congenital Chloride Diarrhea 36 48 68
Familial Chloride Diarrhea 36 48 24
Congenital Secretory Diarrhea, Chloride Type 24 27
Chloride Diarrhea, Congenital, Finnish Type 36 12
Cld 48 24
Diarrhea 1, Secretory Chloride, Congenital 48
 
Chloridorrhea, Congenital 48
Congenital Chloridorrhea 48
Darrow-Gamble Disease 48
Diarrhea 1 36
Diar1 48

Classifications:



Summaries for Congenital Chloride Diarrhea

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NIH Rare Diseases:48 Congenital chloride diarrhea is a condition characterized by large, watery stools containing an excess of chloride. Individuals have intrauterine (pre-birth) and lifelong diarrhea; infants with the condition are often premature. The excessive diarrhea causes electrolyte and water deficits, which in turn cause volume depletion, hyperreninemia (elevated levels of renin in the blood), hyperaldosteronism, renal potassium wasting, and sometimes nephropathy. Mutations in the SLC26A3 gene have been found to cause the condition. It is inherited in an autosomal recessive manner. Treatment generally focuses on the individual symptoms of the condition and typically includes taking oral supplements of sodium and potassium chloride. Last updated: 2/21/2011

MalaCards based summary: Congenital Chloride Diarrhea, also known as familial chloride diarrhea, is related to diarrhea 1, secretory chloride, congenital and diarrhea 5, with tufting enteropathy, congenital, and has symptoms including diarrhea, diarrhea and watery diarrhoea. An important gene associated with Congenital Chloride Diarrhea is SLC26A3 (Solute Carrier Family 26 Member 3). Affiliated tissues include colon, testes and kidney, and related mouse phenotype Decreased shRNA abundance (Z-score < -2).

Wikipedia:71 Congenital chloride diarrhea (CCD, also congenital chloridorrhea or Darrow Gamble syndrome) is a genetic... more...

Related Diseases for Congenital Chloride Diarrhea

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Graphical network of diseases related to Congenital Chloride Diarrhea:



Diseases related to congenital chloride diarrhea

Symptoms & Phenotypes for Congenital Chloride Diarrhea

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UMLS symptoms related to Congenital Chloride Diarrhea:


diarrhea, watery diarrhoea

GenomeRNAi Phenotypes related to Congenital Chloride Diarrhea according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-589.3SLC26A2, SLC26A3

Drugs & Therapeutics for Congenital Chloride Diarrhea

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Oral Magnesium Pidolate, Hemoglobin SC Disease, MG PidolateTerminatedNCT00040456Phase 2

Search NIH Clinical Center for Congenital Chloride Diarrhea

Genetic Tests for Congenital Chloride Diarrhea

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Genetic tests related to Congenital Chloride Diarrhea:

id Genetic test Affiliating Genes
1 Congenital Secretory Diarrhea, Chloride Type27
2 Familial Chloride Diarrhea24 SLC26A3

Anatomical Context for Congenital Chloride Diarrhea

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MalaCards organs/tissues related to Congenital Chloride Diarrhea:

36
Colon, Testes, Kidney

Publications for Congenital Chloride Diarrhea

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Articles related to Congenital Chloride Diarrhea:

(show top 50)    (show all 72)
idTitleAuthorsYear
1
Congenital Chloride Diarrhea: Diagnosis by Easy-Accessible Chloride Measurement in Feces. (27635272)
2016
2
SLC26A3 gene mutations in Tunisian patients with congenital chloride diarrhea. (27525615)
2016
3
Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea. (27657883)
2016
4
Honeycomb fetal abdomen: characteristic sign of congenital chloride diarrhea. (26916838)
2016
5
Congenital Chloride Diarrhea - Novel Mutation in SLC26A3 Gene. (26637435)
2015
6
Congenital Chloride Diarrhea: Accurate Prenatal Diagnosis Using Color Doppler Sonography to Show the Passage of Diarrhea. (26446821)
2015
7
Japanese neonate with congenital chloride diarrhea caused by SLC26A3 mutation. (25711268)
2015
8
Congenital chloride diarrhea presenting in newborn as a rare cause of meconium ileus. (23361499)
2013
9
Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea. (24350656)
2013
10
Congenital chloride diarrhea misdiagnosed as pseudo-Bartter syndrome. (24381629)
2013
11
Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics. (23274434)
2013
12
Congenital chloride diarrhea in dizygotic twins. (24224154)
2013
13
Congenital chloride diarrhea: a review of twelve Arabian children. (23776341)
2013
14
Type IV neonatal Bartter syndrome complicated with congenital chloride diarrhea. (23569535)
2012
15
Prenatal diagnosis and management of congenital chloride diarrhea: A case report of 2 siblings. (22362191)
2012
16
Antenatal differential diagnosis of congenital chloride diarrhea: a case report. (22568939)
2012
17
Identification of SLC26A3 mutations in a Korean patient with congenital chloride diarrhea. (22779076)
2012
18
Proton pump inhibitor treatment for congenital chloride diarrhea. (21127979)
2011
19
Three cases of a rare disease, congenital chloride diarrhea, summons up the variation in the clinical course and significance of early diagnosis and adequate treatment in the prevention of intellectual disability. (21853658)
2011
20
Update on SLC26A3 mutations in congenital chloride diarrhea. (21394828)
2011
21
Significance of molecular testing for congenital chloride diarrhea. (21694535)
2011
22
Prenatal differential diagnosis of congenital chloride diarrhea: the importance of a dilated fluid-filled rectum. (21283961)
2011
23
Compound heterozygous mutations in the SLC26A3 gene in 2 Spanish siblings with congenital chloride diarrhea. (21150650)
2011
24
Congenital chloride diarrhea misdiagnosed as Bartter syndrome. (21805424)
2011
25
A Turkish case of congenital chloride diarrhea with SLC26A3 gene (c.2025_2026insATC) mutation: diagnostic pitfalls. (21332001)
2010
26
Successful pregnancy in a female patient with congenital chloride diarrhea (CLD) and renal impairment. (19967661)
2009
27
The impact of sodium chloride and volume depletion in the chronic kidney disease of congenital chloride diarrhea. (18827800)
2008
28
Celiac disease in a girl with congenital chloride diarrhea: coincidence of 2 diarrheal disorders. (18852645)
2008
29
Oral butyrate in treatment of congenital chloride diarrhea. (18184140)
2008
30
A novel homozygous SLC26A3 nonsense mutation in a Tyrolean girl with congenital chloride diarrhea. (18728535)
2008
31
Prenatal sonographic findings and biochemical assessment of amniotic fluid in a fetus with congenital chloride diarrhea. (18029937)
2007
32
Congenital chloride diarrhea: a missed diagnosis in an adult patient. (17531020)
2007
33
Long-term clinical outcome in patients with congenital chloride diarrhea. (16641574)
2006
34
Renal abnormalities in congenital chloride diarrhea. (15138536)
2004
35
Butyrate as an effective treatment of congenital chloride diarrhea. (15300594)
2004
36
Congenital chloride diarrhea in a child. (12923597)
2003
37
SLC26A3 mutations in congenital chloride diarrhea. (12442266)
2002
38
Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea. (11524734)
2001
39
Congenital chloride diarrhea: antenatal ultrasonographic findings in siblings. (11587020)
2001
40
Congenital chloride diarrhea from the west coast of the Kingdom of Saudi Arabia. (11533786)
2000
41
Japanese siblings with congenital chloride diarrhea. (10881594)
2000
42
The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells. (10857479)
2000
43
Genetic Disorders of Membrane Transport III. Congenital chloride diarrhea. (9886972)
1999
44
Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea. (9886994)
1999
45
Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait. (9718329)
1998
46
Intestinal inflammation reduces expression of DRA, a transporter responsible for congenital chloride diarrhea. (9843783)
1998
47
Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene. (9554749)
1998
48
Genomic structure of the human congenital chloride diarrhea (CLD) gene. (9729124)
1998
49
Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31. (8963897)
1996
50
Congenital chloride diarrhea in a Turkish boy. (8701491)
1996

Variations for Congenital Chloride Diarrhea

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Clinvar genetic disease variations for Congenital Chloride Diarrhea:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SLC26A3NM_000111.2(SLC26A3): c.951_953delGGT (p.Val318del)deletionPathogenicrs386833491GRCh37Chr 7, 107427290: 107427292
2SLC26A3NM_000111.2(SLC26A3): c.371A> T (p.His124Leu)SNVPathogenicrs121913030GRCh37Chr 7, 107432286: 107432286
3SLC26A3SLC26A3, 1-BP DEL, T344deletionPathogenicChr na, -1: -1
4SLC26A3SLC26A3, 3.5-KB DELdeletionPathogenicChr na, -1: -1
5SLC26A3NM_000111.2(SLC26A3): c.559G> T (p.Gly187Ter)SNVPathogenicrs121913032GRCh37Chr 7, 107431504: 107431504
6SLC26A3SLC26A3, 13-BP DELdeletionPathogenicChr na, -1: -1
7SLC26A3NM_000111.2(SLC26A3): c.1386G> A (p.Trp462Ter)SNVPathogenicrs121913033GRCh37Chr 7, 107420134: 107420134
8SLC26A3NM_000111.2(SLC26A3): c.2024_2026dupTCA (p.Ile675_Arg676insIle)duplicationLikely pathogenic, Pathogenicrs121913031GRCh37Chr 7, 107412535: 107412537

Expression for genes affiliated with Congenital Chloride Diarrhea

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Search GEO for disease gene expression data for Congenital Chloride Diarrhea.

Pathways for genes affiliated with Congenital Chloride Diarrhea

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GO Terms for genes affiliated with Congenital Chloride Diarrhea

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Biological processes related to Congenital Chloride Diarrhea according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1bicarbonate transportGO:001570110.0SLC26A2, SLC26A3
2chloride transmembrane transportGO:190247610.0SLC26A2, SLC26A3
3ion transportGO:00068119.9SLC26A2, SLC26A3
4oxalate transportGO:00195329.9SLC26A2, SLC26A3
5regulation of intracellular pHGO:00514539.9SLC26A2, SLC26A3
6regulation of membrane potentialGO:00423919.6SLC26A2, SLC26A3
7sulfate transmembrane transportGO:19023589.3SLC26A2, SLC26A3

Molecular functions related to Congenital Chloride Diarrhea according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1anion:anion antiporter activityGO:00153019.9SLC26A2, SLC26A3
2bicarbonate transmembrane transporter activityGO:00151069.9SLC26A2, SLC26A3
3chloride channel activityGO:00052549.8SLC26A2, SLC26A3
4oxalate transmembrane transporter activityGO:00195319.7SLC26A2, SLC26A3
5secondary active sulfate transmembrane transporter activityGO:00082719.6SLC26A2, SLC26A3
6sulfate transmembrane transporter activityGO:00151169.3SLC26A2, SLC26A3

Sources for Congenital Chloride Diarrhea

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet