CLD
MCID: CNG064
MIFTS: 50

Congenital Chloride Diarrhea (CLD) malady

Gastrointestinal diseases, Genetic diseases categories

Summaries for Congenital Chloride Diarrhea

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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: Congenital Chloride Diarrhea, also known as chloride diarrhea, congenital, finnish type, is related to diarrhea and adenoma. An important gene associated with Congenital Chloride Diarrhea is SLC26A3 (solute carrier family 26 (anion exchanger), member 3), and among its related pathways are SLC-mediated transmembrane transport and Amino acid and oligopeptide SLC transporters. The compounds oxalate and iodide have been mentioned in the context of this disorder. Affiliated tissues include colon, kidney and testes.

Wikipedia:63 Congenital chloride diarrhea (CCD, also congenital chloridorrhea) is a genetic disorder due to an... more...

Description from OMIM:46 214700

Aliases & Classifications for Congenital Chloride Diarrhea

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32MalaCards, 42NIH Rare Diseases, 48Orphanet, 60UMLS, 20GeneTests, 9diseasecard, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases
Anatomical: Gastrointestinal diseases


Aliases & Descriptions:

congenital chloride diarrhea 32 42 48 60
chloride diarrhea, congenital, finnish type 32 9 46
familial chloride diarrhea 32 20
chloridorrhea, congenital 42
congenital chloridorrhea 42
darrow-gamble disease 42
diarrhea 1 32
diar1 42
cld 42


External Ids:

OMIM46 214700
MESH via Orphanet35 C536210
ICD10 via Orphanet26 P78.3
SNOMED-CT via Orphanet57 24412005
UMLS via Orphanet61 C0267662

Related Diseases for Congenital Chloride Diarrhea

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Congenital Chloride Diarrhea:



Diseases related to congenital chloride diarrhea

Clinical Features for Congenital Chloride Diarrhea

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46OMIM
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Clinical features from OMIM:

214700

Clinical synopsis from OMIM:

214700

Drugs & Therapeutics for Congenital Chloride Diarrhea

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Congenital Chloride Diarrhea

Drug clinical trials:

Search ClinicalTrials for Congenital Chloride Diarrhea

Search NIH Clinical Center for Congenital Chloride Diarrhea

Search CenterWatch for Congenital Chloride Diarrhea

Genetic Tests for Congenital Chloride Diarrhea

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20GeneTests
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Genetic tests related to Congenital Chloride Diarrhea:

id Genetic test Affiliating Genes
1 Familial Chloride Diarrhea20 SLC26A3

Anatomical Context for Congenital Chloride Diarrhea

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32MalaCards
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MalaCards organs/tissues related to Congenital Chloride Diarrhea:

32
Colon, Kidney, Testes

Animal Models for Congenital Chloride Diarrhea or affiliated genes

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Publications for Congenital Chloride Diarrhea

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50PubMed
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Articles related to Congenital Chloride Diarrhea:

(show top 50)    (show all 66)
idTitleAuthorsYear
1
Congenital chloride diarrhea in dizygotic twins. (24224154)
2013
2
Congenital chloride diarrhea presenting in newborn as a rare cause of meconium ileus. (23361499)
2013
3
Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea. (24350656)
2013
4
Congenital chloride diarrhea misdiagnosed as pseudo-Bartter syndrome. (24381629)
2013
5
Type IV neonatal Bartter syndrome complicated with congenital chloride diarrhea. (23569535)
2012
6
Antenatal differential diagnosis of congenital chloride diarrhea: a case report. (22568939)
2012
7
Prenatal diagnosis and management of congenital chloride diarrhea: A case report of 2 siblings. (22362191)
2012
8
Identification of SLC26A3 mutations in a Korean patient with congenital chloride diarrhea. (22779076)
2012
9
Proton pump inhibitor treatment for congenital chloride diarrhea. (21127979)
2011
10
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
11
Congenital chloride diarrhea misdiagnosed as Bartter syndrome. (21805424)
2011
12
Update on SLC26A3 mutations in congenital chloride diarrhea. (21394828)
2011
13
Significance of molecular testing for congenital chloride diarrhea. (21694535)
2011
14
A Turkish case of congenital chloride diarrhea with SLC26A3 gene (c.2025_2026insATC) mutation: diagnostic pitfalls. (21332001)
2010
15
The impact of sodium chloride and volume depletion in the chronic kidney disease of congenital chloride diarrhea. (18827800)
2008
16
Celiac disease in a girl with congenital chloride diarrhea: coincidence of 2 diarrheal disorders. (18852645)
2008
17
Congenital chloride-losing diarrhea causing mutations in the STAS domain result in misfolding and mistrafficking of SLC26A3. (18216024)
2008
18
Congenital chloride diarrhea: a missed diagnosis in an adult patient. (17531020)
2007
19
Prenatal sonographic findings and biochemical assessment of amniotic fluid in a fetus with congenital chloride diarrhea. (18029937)
2007
20
Long-term clinical outcome in patients with congenital chloride diarrhea. (16641574)
2006
21
Renal abnormalities in congenital chloride diarrhea. (15138536)
2004
22
Butyrate as an effective treatment of congenital chloride diarrhea. (15300594)
2004
23
Congenital chloride diarrhea in a child. (12923597)
2003
24
SLC26A3 mutations in congenital chloride diarrhea. (12442266)
2002
25
Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea. (11524734)
2001
26
Congenital chloride diarrhea: antenatal ultrasonographic findings in siblings. (11587020)
2001
27
Congenital chloride diarrhea from the west coast of the Kingdom of Saudi Arabia. (11533786)
2000
28
Japanese siblings with congenital chloride diarrhea. (10881594)
2000
29
The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells. (10857479)
2000
30
Genetic Disorders of Membrane Transport III. Congenital chloride diarrhea. (9886972)
1999
31
Intestinal inflammation reduces expression of DRA, a transporter responsible for congenital chloride diarrhea. (9843783)
1998
32
Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene. (9554749)
1998
33
Genomic structure of the human congenital chloride diarrhea (CLD) gene. (9729124)
1998
34
Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait. (9718329)
1998
35
Congenital chloride diarrhea in a Turkish boy. (8701491)
1996
36
Congenital chloride diarrhea: A single center experience with ten patients. (17590642)
1995
37
Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium. (7611301)
1995
38
A girl having congenital chloride diarrhea treated with spironolactone for seven years. (7942007)
1994
39
Congenital chloride diarrhea. A study in Arab children. (7930431)
1994
40
The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator. (7504277)
1993
41
Congenital chloride diarrhea. (8132269)
1993
42
Antenatal sonographic findings of congenital chloride diarrhea. (2492559)
1989
43
Chloride-resistant metabolic alkalosis in an adult with congenital chloride diarrhea. (3177410)
1988
44
Dental involvement in congenital chloride diarrhea. (6440962)
1984
45
Congenital chloride diarrhea. (7049691)
1982
46
Congenital chloride diarrhea: possibility for prenatal diagnosis. (7211368)
1980
47
Electrolyte economy and its hormonal regulation in congenital chloride diarrhea. (643381)
1978
48
The renal lesion in congenital chloride diarrhea. (909012)
1977
49
Colonic electrolyte transport in health and in congenital chloride diarrhea. (1150872)
1975
50
Congenital chloride diarrhea, an autosomal recessive disease. Genetic study of 14 Finnish and 12 other families. (5111762)
1971

Genetic Variations for Congenital Chloride Diarrhea

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Congenital Chloride Diarrhea:

62 (show all 18)
id Symbol AA change Variation ID SNP ID
1SLC26A3p.Gly120SerVAR_007428
2SLC26A3p.His124LeuVAR_007429
3SLC26A3p.Pro131ArgVAR_007430
4SLC26A3p.Ser206ProVAR_012777
5SLC26A3p.Asp468ValVAR_012778
6SLC26A3p.Pro129LeuVAR_066062
7SLC26A3p.Pro131LeuVAR_066063
8SLC26A3p.Met136IleVAR_066064
9SLC26A3p.Tyr204AspVAR_066065
10SLC26A3p.His220ProVAR_066066
11SLC26A3p.Cys343TyrVAR_066067
12SLC26A3p.Gly379AlaVAR_066069
13SLC26A3p.Ser398PheVAR_066070rs143839547
14SLC26A3p.Leu496ArgVAR_066071
15SLC26A3p.Tyr520CysVAR_066072
16SLC26A3p.Lys521AsnVAR_066073
17SLC26A3p.Ile544AsnVAR_066074
18SLC26A3p.Asp652AsnVAR_066075

Expression for genes affiliated with Congenital Chloride Diarrhea

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Congenital Chloride Diarrhea

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

Pathways for genes affiliated with Congenital Chloride Diarrhea

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53Reactome
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Pathways related to Congenital Chloride Diarrhea according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
8.9SLC26A2, SLC26A4, SLC26A3
2
Hide members
8.9SLC26A2, SLC26A4, SLC26A3
38.9SLC26A2, SLC26A4, SLC26A3

Compounds for genes affiliated with Congenital Chloride Diarrhea

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44Novoseek, 24HMDB, 49PharmGKB, 11DrugBank, 59Tocris Bioscience, 2BitterDB, 28IUPHAR
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Compounds related to Congenital Chloride Diarrhea according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1oxalate449.6SLC26A2, SLC26A4
2iodide44 2410.5SLC26A4, SLC26A2
3formate449.5SLC26A2, SLC26A4
4chlorine44 2410.4SLC26A4, SLC26A3
5enalapril44 49 1111.4IL10, REN
6digoxin44 49 59 11 2413.3IL10, REN
7corticosterone44 59 2411.2IL10, REN
8bicarbonate449.2SLC26A3, SLC26A4, SLC26A2
9sulfate44 2410.2SLC26A2, SLC26A4, SLC26A3
10prostacyclin449.1IL10, REN
11hydrocortisone44 2 59 1112.0IL10, REN
12nacl448.8SLC26A4, SLC26A3, REN
13thyroxine44 249.8REN, IL10, SLC26A4
14dexamethasone44 49 28 1111.7REN, IL10, SLC26A2
15chloride448.4SLC26A2, SLC26A4, SLC26A3, REN
16nitric oxide44 11 2410.2REN, IL10, SLC26A4

GO Terms for genes affiliated with Congenital Chloride Diarrhea

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16Gene Ontology
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Cellular components related to Congenital Chloride Diarrhea according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1brush border membraneGO:0315269.4SLC26A4, SLC26A3

Biological processes related to Congenital Chloride Diarrhea according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transmembrane transportGO:0550858.9SLC26A2, SLC26A4, SLC26A3
2sulfate transportGO:0082728.8SLC26A2, SLC26A4, SLC26A3
3ion transportGO:0068118.6SLC26A2, SLC26A4, SLC26A3

Molecular functions related to Congenital Chloride Diarrhea according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sulfate transmembrane transporter activityGO:0151169.3SLC26A2, SLC26A4
2chloride transmembrane transporter activityGO:0151089.1SLC26A4, SLC26A3
3secondary active sulfate transmembrane transporter activityGO:0082718.8SLC26A2, SLC26A4, SLC26A3

Products for genes affiliated with Congenital Chloride Diarrhea

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Sources for Congenital Chloride Diarrhea

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet