MCID: CNG064
MIFTS: 36

Congenital Chloride Diarrhea malady

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Congenital Chloride Diarrhea

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Sources:
45NIH Rare Diseases, 33MalaCards, 51Orphanet, 65UMLS, 22GeneTests, 11diseasecard, 24GTR, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Congenital Chloride Diarrhea:

Name: Congenital Chloride Diarrhea 33 45 51 65
Familial Chloride Diarrhea 33 45 22
Congenital Secretory Diarrhea, Chloride Type 22 24
Chloride Diarrhea, Congenital, Finnish Type 33 11
Cld 45 22
Diarrhea 1, Secretory Chloride, Congenital 45
 
Chloridorrhea, Congenital 45
Congenital Chloridorrhea 45
Darrow-Gamble Disease 45
Diarrhea 1 33
Diar1 45

Characteristics:

Orphanet epidemiological data:

51
congenital chloride diarrhea:
Inheritance: Autosomal recessive

Classifications:



External Ids:

Orphanet51 53689
ICD10 via Orphanet28 P78.3
MESH via Orphanet37 C536210
UMLS via Orphanet66 C0267662

Summaries for Congenital Chloride Diarrhea

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NIH Rare Diseases:45 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, and has symptoms including watery diarrhoea, watery diarrhoea and diarrhea. An important gene associated with Congenital Chloride Diarrhea is SLC26A3 (Solute Carrier Family 26 Member 3). Affiliated tissues include heart, lung and skin.

Wikipedia:68 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 for Congenital Chloride Diarrhea

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UMLS symptoms related to Congenital Chloride Diarrhea:


watery diarrhoea, diarrhea

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 Familial Chloride Diarrhea22 SLC26A3

Anatomical Context for Congenital Chloride Diarrhea

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MalaCards organs/tissues related to Congenital Chloride Diarrhea:

33
Heart, Lung, Skin, Endothelial, Colon, Temporal lobe, Cervix

Animal Models for Congenital Chloride Diarrhea or affiliated genes

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MGI Mouse Phenotypes related to Congenital Chloride Diarrhea:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Congenital Chloride Diarrhea

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Articles related to Congenital Chloride Diarrhea:

(show top 50)    (show all 68)
idTitleAuthorsYear
1
Congenital Chloride Diarrhea - Novel Mutation in SLC26A3 Gene. (26637435)
2015
2
Congenital Chloride Diarrhea: Accurate Prenatal Diagnosis Using Color Doppler Sonography to Show the Passage of Diarrhea. (26446821)
2015
3
Japanese neonate with congenital chloride diarrhea caused by SLC26A3 mutation. (25711268)
2015
4
Congenital chloride diarrhea in dizygotic twins. (24224154)
2013
5
Congenital chloride diarrhea: a review of twelve Arabian children. (23776341)
2013
6
Congenital chloride diarrhea presenting in newborn as a rare cause of meconium ileus. (23361499)
2013
7
Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea. (24350656)
2013
8
Congenital chloride diarrhea misdiagnosed as pseudo-Bartter syndrome. (24381629)
2013
9
Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics. (23274434)
2013
10
Type IV neonatal Bartter syndrome complicated with congenital chloride diarrhea. (23569535)
2012
11
Antenatal differential diagnosis of congenital chloride diarrhea: a case report. (22568939)
2012
12
Prenatal differential diagnosis of congenital chloride diarrhea: the importance of a dilated fluid-filled rectum. (21283961)
2011
13
Proton pump inhibitor treatment for congenital chloride diarrhea. (21127979)
2011
14
Compound heterozygous mutations in the SLC26A3 gene in 2 Spanish siblings with congenital chloride diarrhea. (21150650)
2011
15
A Turkish case of congenital chloride diarrhea with SLC26A3 gene (c.2025_2026insATC) mutation: diagnostic pitfalls. (21332001)
2010
16
Oral butyrate in treatment of congenital chloride diarrhea. (18184140)
2008
17
The impact of sodium chloride and volume depletion in the chronic kidney disease of congenital chloride diarrhea. (18827800)
2008
18
A novel homozygous SLC26A3 nonsense mutation in a Tyrolean girl with congenital chloride diarrhea. (18728535)
2008
19
Celiac disease in a girl with congenital chloride diarrhea: coincidence of 2 diarrheal disorders. (18852645)
2008
20
Congenital chloride diarrhea: a missed diagnosis in an adult patient. (17531020)
2007
21
Prenatal sonographic findings and biochemical assessment of amniotic fluid in a fetus with congenital chloride diarrhea. (18029937)
2007
22
Renal abnormalities in congenital chloride diarrhea. (15138536)
2004
23
Butyrate as an effective treatment of congenital chloride diarrhea. (15300594)
2004
24
Congenital chloride diarrhea in a child. (12923597)
2003
25
SLC26A3 mutations in congenital chloride diarrhea. (12442266)
2002
26
Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea. (11524734)
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
Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea. (9886994)
1999
32
Intestinal inflammation reduces expression of DRA, a transporter responsible for congenital chloride diarrhea. (9843783)
1998
33
Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene. (9554749)
1998
34
Genomic structure of the human congenital chloride diarrhea (CLD) gene. (9729124)
1998
35
Congenital chloride diarrhea in a Turkish boy. (8701491)
1996
36
Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31. (8963897)
1996
37
Congenital chloride diarrhea: A single center experience with ten patients. (17590642)
1995
38
Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea. (7942853)
1994
39
A girl having congenital chloride diarrhea treated with spironolactone for seven years. (7942007)
1994
40
Congenital chloride diarrhea. A study in Arab children. (7930431)
1994
41
The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator. (7504277)
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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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:

idNameGO IDScoreTop Affiliating Genes
1chloride transmembrane transportGO:19024769.7SLC26A2, SLC26A3
2oxalate transportGO:00195329.7SLC26A2, SLC26A3
3regulation of intracellular pHGO:00514539.5SLC26A2, SLC26A3
4transmembrane transportGO:00550859.3SLC26A2, SLC26A3

Sources for Congenital Chloride Diarrhea

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet