CLD
MCID: CNG064
MIFTS: 52

Congenital Chloride Diarrhea (CLD) malady

Genetic diseases, Rare diseases, Gastrointestinal diseases categories
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Summaries for Congenital Chloride Diarrhea

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43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 familial chloride diarrhea, is related to adenoma and diarrhea. An important gene associated with Congenital Chloride Diarrhea is SLC26A3 (solute carrier family 26 (anion exchanger), member 3), and among its related pathways is Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The compounds oxalate and iodide have been mentioned in the context of this disorder. Affiliated tissues include colon, kidney and testes, and related mouse phenotypes are endocrine/exocrine gland and skeleton.

Wikipedia:65 Congenital chloride diarrhea (CCD, also congenital chloridorrhea) is a genetic disorder due to an... more...

Description from OMIM:47 214700

Aliases & Classifications for Congenital Chloride Diarrhea

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33MalaCards, 43NIH Rare Diseases, 49Orphanet, 62UMLS, 20GeneTests, 9diseasecard, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
congenital chloride diarrhea:
Inheritance: Autosomal recessive


Aliases & Descriptions:

congenital chloride diarrhea 33 43 49 62
familial chloride diarrhea 33 43 20
chloride diarrhea, congenital, finnish type 33 9
diarrhea 1, secretory chloride, congenital 43 47
chloridorrhea, congenital 43
congenital chloridorrhea 43
darrow-gamble disease 43
diarrhea 1 33
diar1 43
cld 43


External Ids:

OMIM47 214700
MESH via Orphanet36 C536210
ICD10 via Orphanet26 P78.3
SNOMED-CT via Orphanet59 24412005
UMLS via Orphanet63 C0267662

Related Diseases for Congenital Chloride Diarrhea

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17GeneCards, 18GeneDecks
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Diseases related to Congenital Chloride Diarrhea via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1adenoma30.3REN, SLC26A3, SLC26A4
2diarrhea11.1
3hepatitis10.3
4cystic fibrosis10.2
5celiac disease10.2
6autosomal recessive disease10.2
7intellectual disability10.2
8intestinal obstruction10.2
9kidney disease10.2
10meconium ileus10.2
11ileus10.2
12diarrhea 5, with tufting enteropathy, congenital10.1
13liver disease10.0
14congenital lactase deficiency10.0
15inflammatory bowel disease10.0IL10, SLC26A3
16diastrophic dysplasia9.9SLC26A2, SLC26A3, SLC26A4
17pendred syndrome9.9SLC26A2, SLC26A3, SLC26A4
18pre-eclampsia9.9REN, IL10

Graphical network of diseases related to Congenital Chloride Diarrhea:



Diseases related to congenital chloride diarrhea

Symptoms for Congenital Chloride Diarrhea

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47OMIM
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Symptoms by clinical synopsis from OMIM:

214700

Clinical features from OMIM:

214700

Drugs & Therapeutics for Congenital Chloride Diarrhea

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Congenital Chloride Diarrhea

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Congenital Chloride Diarrhea:

33
Colon, Kidney, Testes

Animal Models for Congenital Chloride Diarrhea or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Congenital Chloride Diarrhea:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.8IL10, SLC26A3, SLC26A4
2MP:00053908.5IL10, SLC26A2, SLC26A4
3MP:00053898.5REN, IL10, SLC26A4
4MP:00053788.3SLC26A3, SLC26A2, IL10, REN
5MP:00107688.2SLC26A2, IL10, REN, SLC26A3
6MP:00053768.1REN, SLC26A4, SLC26A3, IL10

Publications for Congenital Chloride Diarrhea

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52PubMed
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Articles related to Congenital Chloride Diarrhea:

(show top 50)    (show all 65)
idTitleAuthorsYear
1
Congenital chloride diarrhea in dizygotic twins. (24224154)
2013
2
Congenital chloride diarrhea: a review of twelve Arabian children. (23776341)
2013
3
Congenital chloride diarrhea presenting in newborn as a rare cause of meconium ileus. (23361499)
2013
4
Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea. (24350656)
2013
5
Congenital chloride diarrhea misdiagnosed as pseudo-Bartter syndrome. (24381629)
2013
6
Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics. (23274434)
2013
7
Type IV neonatal Bartter syndrome complicated with congenital chloride diarrhea. (23569535)
2012
8
Antenatal differential diagnosis of congenital chloride diarrhea: a case report. (22568939)
2012
9
Prenatal differential diagnosis of congenital chloride diarrhea: the importance of a dilated fluid-filled rectum. (21283961)
2011
10
Proton pump inhibitor treatment for congenital chloride diarrhea. (21127979)
2011
11
Compound heterozygous mutations in the SLC26A3 gene in 2 Spanish siblings with congenital chloride diarrhea. (21150650)
2011
12
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
13
A Turkish case of congenital chloride diarrhea with SLC26A3 gene (c.2025_2026insATC) mutation: diagnostic pitfalls. (21332001)
2010
14
Oral butyrate in treatment of congenital chloride diarrhea. (18184140)
2008
15
The impact of sodium chloride and volume depletion in the chronic kidney disease of congenital chloride diarrhea. (18827800)
2008
16
A novel homozygous SLC26A3 nonsense mutation in a Tyrolean girl with congenital chloride diarrhea. (18728535)
2008
17
Celiac disease in a girl with congenital chloride diarrhea: coincidence of 2 diarrheal disorders. (18852645)
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 from the west coast of the Kingdom of Saudi Arabia. (11533786)
2000
27
Japanese siblings with congenital chloride diarrhea. (10881594)
2000
28
The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells. (10857479)
2000
29
Genetic Disorders of Membrane Transport III. Congenital chloride diarrhea. (9886972)
1999
30
Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea. (9886994)
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
Congenital chloride diarrhea in a Turkish boy. (8701491)
1996
35
Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31. (8963897)
1996
36
Congenital chloride diarrhea: A single center experience with ten patients. (17590642)
1995
37
Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea. (7942853)
1994
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
Effects of indomethacin in congenital chloride diarrhea. (1619538)
1992
43
False diagnosis of intestinal obstruction in a fetus with congenital chloride diarrhea. (1812257)
1991
44
Chloride-resistant metabolic alkalosis in an adult with congenital chloride diarrhea. (3177410)
1988
45
Dental involvement in congenital chloride diarrhea. (6440962)
1984
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. (4821323)
1974

Variations for Congenital Chloride Diarrhea

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Congenital Chloride Diarrhea:

64 (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

Clinvar genetic disease variations for Congenital Chloride Diarrhea:

1
id Gene Name 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)single nucleotide variantPathogenicrs121913030GRCh37Chr 7, 107432286: 107432286
3SLC26A3SLC26A3, 1-BP DEL, T344deletionPathogenic
4SLC26A3SLC26A3, 3.5-KB DELdeletionPathogenic
5SLC26A3NM_000111.2(SLC26A3): c.2025_2026insATC (p.Ile675_Arg676insIle)insertionPathogenicrs121913031GRCh37Chr 7, 107412535: 107412536
6SLC26A3NM_000111.2(SLC26A3): c.559G> T (p.Gly187Ter)single nucleotide variantPathogenicrs121913032GRCh37Chr 7, 107431504: 107431504
7SLC26A3SLC26A3, 13-BP DELdeletionPathogenic
8SLC26A3NM_000111.2(SLC26A3): c.1386G> A (p.Trp462Ter)single nucleotide variantPathogenicrs121913033GRCh37Chr 7, 107420134: 107420134

Expression for genes affiliated with Congenital Chloride Diarrhea

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2BioGPS, 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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50PathCards, 55Reactome
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Compounds for genes affiliated with Congenital Chloride Diarrhea

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45Novoseek, 24HMDB, 51PharmGKB, 11DrugBank, 61Tocris Bioscience, 3BitterDB, 29IUPHAR
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Compounds related to Congenital Chloride Diarrhea according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1oxalate459.6SLC26A2, SLC26A4
2iodide45 2410.6SLC26A4, SLC26A2
3formate459.6SLC26A2, SLC26A4
4chlorine45 2410.5SLC26A4, SLC26A3
5enalapril45 51 1111.4IL10, REN
6digoxin45 61 51 24 1113.3IL10, REN
7corticosterone45 61 2411.3IL10, REN
8bicarbonate459.2SLC26A2, SLC26A3, SLC26A4
9sulfate45 2410.2SLC26A4, SLC26A3, SLC26A2
10hydrocortisone45 3 61 1112.1IL10, REN
11calcitriol45 61 24 1112.1IL10, REN
12prostacyclin459.0REN, IL10
13nacl458.9SLC26A4, SLC26A3, REN
14tacrolimus45 51 1110.8IL10, REN
15thyroxine45 249.8REN, IL10, SLC26A4
16dexamethasone45 51 29 1111.8SLC26A2, IL10, REN
17nitric oxide45 24 1110.6REN, IL10, SLC26A4
18chloride458.4SLC26A4, SLC26A3, SLC26A2, REN

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
1apical plasma membraneGO:0163249.4SLC26A4, SLC26A3
2brush border membraneGO:0315269.3SLC26A4, SLC26A3
3plasma membraneGO:0058867.8SLC26A4, SLC26A3, SLC26A2, REN

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

idNameGO IDScoreTop Affiliating Genes
1sulfate transmembrane transportGO:19023589.4SLC26A2, SLC26A4
2sulfate transportGO:0082729.3SLC26A4, SLC26A2
3chloride transmembrane transportGO:19024769.1SLC26A4, SLC26A3
4transmembrane transportGO:0550858.9SLC26A2, SLC26A4, SLC26A3
5ion transportGO:0068118.8SLC26A4, SLC26A3, SLC26A2

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

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

Products for genes affiliated with Congenital Chloride Diarrhea

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Sources for Congenital Chloride Diarrhea

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet