CLD
MCID: CNG064
MIFTS: 33

Congenital Chloride Diarrhea (CLD) malady

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Congenital Chloride Diarrhea

Aliases & Descriptions for Congenital Chloride Diarrhea:

Name: Congenital Chloride Diarrhea 39 50 69
Familial Chloride Diarrhea 39 50 24
Congenital Secretory Diarrhea, Chloride Type 24 29
Chloride Diarrhea, Congenital, Finnish Type 39 13
Cld 50 24
Diarrhea 1, Secretory Chloride, Congenital 50
Chloridorrhea, Congenital 50
Congenital Chloridorrhea 50
Darrow-Gamble Disease 50
Diarrhea 1 39
Diar1 50

Classifications:



Summaries for Congenital Chloride Diarrhea

NIH Rare Diseases : 50 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 and watery diarrhea. 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 phenotype is 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

Graphical network of the top 20 diseases related to Congenital Chloride Diarrhea:



Diseases related to Congenital Chloride Diarrhea

Symptoms & Phenotypes for Congenital Chloride Diarrhea

UMLS symptoms related to Congenital Chloride Diarrhea:


diarrhea, watery diarrhea

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.36 SLC26A2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.36 SLC26A2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.36 SLC26A2 SLC26A3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.36 SLC26A2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-155 9.36 SLC26A2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.36 SLC26A2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.36 SLC26A3
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.36 SLC26A3
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.36 SLC26A3
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.36 SLC26A3

Drugs & Therapeutics for Congenital Chloride Diarrhea

Interventional clinical trials:


id Name Status NCT ID Phase
1 Oral Magnesium Pidolate, Hemoglobin SC Disease, MG Pidolate Terminated NCT00040456 Phase 2

Search NIH Clinical Center for Congenital Chloride Diarrhea

Genetic Tests for Congenital Chloride Diarrhea

Genetic tests related to Congenital Chloride Diarrhea:

id Genetic test Affiliating Genes
1 Congenital Secretory Diarrhea, Chloride Type 29
2 Familial Chloride Diarrhea 24 SLC26A3

Anatomical Context for Congenital Chloride Diarrhea

MalaCards organs/tissues related to Congenital Chloride Diarrhea:

39
Colon, Testes, Kidney

Publications for Congenital Chloride Diarrhea

Articles related to Congenital Chloride Diarrhea:

(show top 50) (show all 72)
id Title Authors Year
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
Honeycomb fetal abdomen: characteristic sign of congenital chloride diarrhea. ( 26916838 )
2016
4
Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea. ( 27657883 )
2016
5
Japanese neonate with congenital chloride diarrhea caused by SLC26A3 mutation. ( 25711268 )
2015
6
Congenital Chloride Diarrhea: Accurate Prenatal Diagnosis Using Color Doppler Sonography to Show the Passage of Diarrhea. ( 26446821 )
2015
7
Congenital Chloride Diarrhea - Novel Mutation in SLC26A3 Gene. ( 26637435 )
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 in dizygotic twins. ( 24224154 )
2013
11
Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics. ( 23274434 )
2013
12
Congenital chloride diarrhea: a review of twelve Arabian children. ( 23776341 )
2013
13
Congenital chloride diarrhea misdiagnosed as pseudo-Bartter syndrome. ( 24381629 )
2013
14
Antenatal differential diagnosis of congenital chloride diarrhea: a case report. ( 22568939 )
2012
15
Type IV neonatal Bartter syndrome complicated with congenital chloride diarrhea. ( 23569535 )
2012
16
Prenatal diagnosis and management of congenital chloride diarrhea: A case report of 2 siblings. ( 22362191 )
2012
17
Identification of SLC26A3 mutations in a Korean patient with congenital chloride diarrhea. ( 22779076 )
2012
18
Prenatal differential diagnosis of congenital chloride diarrhea: the importance of a dilated fluid-filled rectum. ( 21283961 )
2011
19
Significance of molecular testing for congenital chloride diarrhea. ( 21694535 )
2011
20
Update on SLC26A3 mutations in congenital chloride diarrhea. ( 21394828 )
2011
21
Compound heterozygous mutations in the SLC26A3 gene in 2 Spanish siblings with congenital chloride diarrhea. ( 21150650 )
2011
22
Congenital chloride diarrhea misdiagnosed as Bartter syndrome. ( 21805424 )
2011
23
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
24
Proton pump inhibitor treatment for congenital chloride diarrhea. ( 21127979 )
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
Celiac disease in a girl with congenital chloride diarrhea: coincidence of 2 diarrheal disorders. ( 18852645 )
2008
28
A novel homozygous SLC26A3 nonsense mutation in a Tyrolean girl with congenital chloride diarrhea. ( 18728535 )
2008
29
The impact of sodium chloride and volume depletion in the chronic kidney disease of congenital chloride diarrhea. ( 18827800 )
2008
30
Oral butyrate in treatment of congenital chloride diarrhea. ( 18184140 )
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
Butyrate as an effective treatment of congenital chloride diarrhea. ( 15300594 )
2004
35
Renal abnormalities in congenital chloride diarrhea. ( 15138536 )
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
Intestinal inflammation reduces expression of DRA, a transporter responsible for congenital chloride diarrhea. ( 9843783 )
1998
46
Genomic structure of the human congenital chloride diarrhea (CLD) gene. ( 9729124 )
1998
47
Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait. ( 9718329 )
1998
48
Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene. ( 9554749 )
1998
49
Congenital chloride diarrhea in a Turkish boy. ( 8701491 )
1996
50
Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31. ( 8963897 )
1996

Variations for Congenital Chloride Diarrhea

ClinVar genetic disease variations for Congenital Chloride Diarrhea:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC26A3 NM_000111.2(SLC26A3): c.951_953delGGT (p.Val318del) deletion Pathogenic rs386833491 GRCh37 Chromosome 7, 107427290: 107427292
2 SLC26A3 NM_000111.2(SLC26A3): c.371A> T (p.His124Leu) single nucleotide variant Pathogenic rs121913030 GRCh37 Chromosome 7, 107432286: 107432286
3 SLC26A3 SLC26A3, 1-BP DEL, T344 deletion Pathogenic
4 SLC26A3 SLC26A3, 3.5-KB DEL deletion Pathogenic
5 SLC26A3 NM_000111.2(SLC26A3): c.559G> T (p.Gly187Ter) single nucleotide variant Pathogenic rs121913032 GRCh37 Chromosome 7, 107431504: 107431504
6 SLC26A3 SLC26A3, 13-BP DEL deletion Pathogenic
7 SLC26A3 NM_000111.2(SLC26A3): c.1386G> A (p.Trp462Ter) single nucleotide variant Pathogenic rs121913033 GRCh37 Chromosome 7, 107420134: 107420134
8 SLC26A3 NM_000111.2(SLC26A3): c.2024_2026dupTCA (p.Ile675_Arg676insIle) duplication Pathogenic/Likely pathogenic rs121913031 GRCh37 Chromosome 7, 107412535: 107412537

Expression for Congenital Chloride Diarrhea

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

Pathways for Congenital Chloride Diarrhea

GO Terms for Congenital Chloride Diarrhea

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

id Name GO ID Score Top Affiliating Genes
1 chloride transmembrane transport GO:1902476 9.4 SLC26A2 SLC26A3
2 regulation of membrane potential GO:0042391 9.37 SLC26A2 SLC26A3
3 bicarbonate transport GO:0015701 9.32 SLC26A2 SLC26A3
4 regulation of intracellular pH GO:0051453 9.26 SLC26A2 SLC26A3
5 sulfate transport GO:0008272 9.16 SLC26A2 SLC26A3
6 sulfate transmembrane transport GO:1902358 8.96 SLC26A2 SLC26A3
7 oxalate transport GO:0019532 8.62 SLC26A2 SLC26A3

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

id Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 9.37 SLC26A2 SLC26A3
2 anion:anion antiporter activity GO:0015301 9.32 SLC26A2 SLC26A3
3 bicarbonate transmembrane transporter activity GO:0015106 9.26 SLC26A2 SLC26A3
4 sulfate transmembrane transporter activity GO:0015116 9.16 SLC26A2 SLC26A3
5 secondary active sulfate transmembrane transporter activity GO:0008271 8.96 SLC26A2 SLC26A3
6 oxalate transmembrane transporter activity GO:0019531 8.62 SLC26A2 SLC26A3

Sources for Congenital Chloride Diarrhea

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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37 KEGG
38 LifeMap
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44 MGI
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48 NDF-RT
51 NINDS
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54 OMIM
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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