MCID: CNG064
MIFTS: 40

Congenital Chloride Diarrhea malady

Genetic diseases, Rare diseases, Gastrointestinal diseases categories

Aliases & Classifications for Congenital Chloride Diarrhea

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Sources:
31MalaCards, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 48Orphanet, 61UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Congenital Chloride Diarrhea:

Name: Congenital Chloride Diarrhea 31 42 48 61
Familial Chloride Diarrhea 31 42 20
Chloride Diarrhea, Congenital, Finnish Type 31 9
Diarrhea 1, Secretory Chloride, Congenital 42
Chloridorrhea, Congenital 42
 
Congenital Chloridorrhea 42
Darrow-Gamble Disease 42
Diarrhea 1 31
Diar1 42
Cld 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
congenital chloride diarrhea:
Inheritance: Autosomal recessive


External Ids:

Orphanet48 53689
MESH via Orphanet34 C536210
ICD10 via Orphanet26 P78.3
UMLS via Orphanet62 C0267662

Summaries for Congenital Chloride Diarrhea

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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 based summary: 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:64 Congenital chloride diarrhea (CCD, also congenital chloridorrhea) is a genetic disorder due to an... 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 for Congenital Chloride Diarrhea

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Drugs & Therapeutics for Congenital Chloride Diarrhea

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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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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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MalaCards organs/tissues related to Congenital Chloride Diarrhea:

31
Colon, Kidney, Testes

Animal Models for Congenital Chloride Diarrhea or affiliated genes

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MGI Mouse Phenotypes related to Congenital Chloride Diarrhea:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.8SLC26A4, SLC26A3, IL10
2MP:00053908.5IL10, SLC26A2, SLC26A4
3MP:00053898.5SLC26A4, IL10, REN
4MP:00053788.3SLC26A3, SLC26A2, IL10, REN
5MP:00107688.2REN, IL10, SLC26A2, SLC26A3
6MP:00053768.1REN, IL10, SLC26A3, SLC26A4

Publications for Congenital Chloride Diarrhea

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Articles related to Congenital Chloride Diarrhea:

(show top 50)    (show all 66)
idTitleAuthorsYear
1
Japanese neonate with congenital chloride diarrhea caused by SLC26A3 mutation. (25711268)
2015
2
Congenital chloride diarrhea in dizygotic twins. (24224154)
2013
3
Congenital chloride diarrhea: a review of twelve Arabian children. (23776341)
2013
4
Congenital chloride diarrhea presenting in newborn as a rare cause of meconium ileus. (23361499)
2013
5
Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea. (24350656)
2013
6
Congenital chloride diarrhea misdiagnosed as pseudo-Bartter syndrome. (24381629)
2013
7
Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics. (23274434)
2013
8
Type IV neonatal Bartter syndrome complicated with congenital chloride diarrhea. (23569535)
2012
9
Antenatal differential diagnosis of congenital chloride diarrhea: a case report. (22568939)
2012
10
Prenatal differential diagnosis of congenital chloride diarrhea: the importance of a dilated fluid-filled rectum. (21283961)
2011
11
Proton pump inhibitor treatment for congenital chloride diarrhea. (21127979)
2011
12
Compound heterozygous mutations in the SLC26A3 gene in 2 Spanish siblings with congenital chloride diarrhea. (21150650)
2011
13
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
14
A Turkish case of congenital chloride diarrhea with SLC26A3 gene (c.2025_2026insATC) mutation: diagnostic pitfalls. (21332001)
2010
15
Oral butyrate in treatment of congenital chloride diarrhea. (18184140)
2008
16
The impact of sodium chloride and volume depletion in the chronic kidney disease of congenital chloride diarrhea. (18827800)
2008
17
A novel homozygous SLC26A3 nonsense mutation in a Tyrolean girl with congenital chloride diarrhea. (18728535)
2008
18
Celiac disease in a girl with congenital chloride diarrhea: coincidence of 2 diarrheal disorders. (18852645)
2008
19
Congenital chloride diarrhea: a missed diagnosis in an adult patient. (17531020)
2007
20
Prenatal sonographic findings and biochemical assessment of amniotic fluid in a fetus with congenital chloride diarrhea. (18029937)
2007
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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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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Compounds for genes affiliated with Congenital Chloride Diarrhea

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Compounds related to Congenital Chloride Diarrhea according to GeneCards Suite gene sharing:

(show all 18)
idCompoundScoreTop Affiliating Genes
1oxalate449.6SLC26A2, SLC26A4
2iodide44 2410.6SLC26A4, SLC26A2
3formate449.6SLC26A2, SLC26A4
4chlorine44 2410.5SLC26A4, SLC26A3
5enalapril44 50 1111.4IL10, REN
6digoxin44 60 50 24 1113.3IL10, REN
7corticosterone44 60 2411.3IL10, REN
8bicarbonate449.2SLC26A2, SLC26A3, SLC26A4
9sulfate44 2410.2SLC26A4, SLC26A3, SLC26A2
10hydrocortisone44 1 60 1112.1IL10, REN
11calcitriol44 60 24 1112.1IL10, REN
12prostacyclin449.0REN, IL10
13nacl448.9SLC26A4, SLC26A3, REN
14tacrolimus44 50 1110.8IL10, REN
15thyroxine44 249.8REN, IL10, SLC26A4
16dexamethasone44 50 28 1111.8SLC26A2, IL10, REN
17nitric oxide44 24 1110.6REN, IL10, SLC26A4
18chloride448.4SLC26A4, SLC26A3, SLC26A2, REN

GO Terms for genes affiliated with Congenital Chloride Diarrhea

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Cellular components related to Congenital Chloride Diarrhea according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1apical plasma membraneGO:00163249.4SLC26A4, SLC26A3
2brush border membraneGO:00315269.3SLC26A4, SLC26A3
3plasma membraneGO:00058867.8SLC26A4, SLC26A3, SLC26A2, REN

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

idNameGO IDScoreTop Affiliating Genes
1sulfate transmembrane transportGO:019023589.4SLC26A4, SLC26A2
2sulfate transportGO:00082729.3SLC26A4, SLC26A2
3chloride transmembrane transportGO:019024769.1SLC26A4, SLC26A3
4transmembrane transportGO:00550858.9SLC26A4, SLC26A3, SLC26A2
5ion transportGO:00068118.8SLC26A2, SLC26A3, SLC26A4

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

idNameGO IDScoreTop Affiliating Genes
1sulfate transmembrane transporter activityGO:00151169.3SLC26A4, SLC26A2
2chloride transmembrane transporter activityGO:00151089.1SLC26A4, SLC26A3
3secondary active sulfate transmembrane transporter activityGO:00082718.8SLC26A4, SLC26A3, SLC26A2

Sources for Congenital Chloride Diarrhea

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet