CLD
MCID: CNG064
MIFTS: 38

Congenital Chloride Diarrhea (CLD) malady

Gastrointestinal, Genetic categories

Summaries for Congenital Chloride Diarrhea

Sources:
43NIH Rare Diseases, 64Wikipedia, 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 chloride diarrhea, congenital, finnish type, is related to adenoma and cystic fibrosis. 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 and kidney.

Wikipedia:64 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

Sources:
33MalaCards, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 47OMIM, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

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


Aliases & Descriptions:

congenital chloride diarrhea 33 43 49 61
chloride diarrhea, congenital, finnish type 33 9 47
familial chloride diarrhea 33 20
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 Orphanet58 24412005
UMLS via Orphanet62 C0267662

Related Diseases for Congenital Chloride Diarrhea

Sources:
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

Sources:
47OMIM
See all sources

Clinical features from OMIM:

214700

Clinical synopsis from OMIM:

214700

Drugs & Therapeutics for Congenital Chloride Diarrhea

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests
See all sources

Genetic tests related to Congenital Chloride Diarrhea:

id Genetic test Affiliating Genes
1 Familial Chloride Diarrhea20 SLC26A3

Anatomical Context for Congenital Chloride Diarrhea

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Congenital Chloride Diarrhea:

33
Colon, Kidney

Animal Models for Congenital Chloride Diarrhea or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Congenital Chloride Diarrhea

Sources:
51PubMed
See all sources

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: 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 in Korean children: novel mutations and genetic characteristics. (23274434)
2013
6
Type IV neonatal Bartter syndrome complicated with congenital chloride diarrhea. (23569535)
2012
7
Antenatal differential diagnosis of congenital chloride diarrhea: a case report. (22568939)
2012
8
Prenatal differential diagnosis of congenital chloride diarrhea: the importance of a dilated fluid-filled rectum. (21283961)
2011
9
Proton pump inhibitor treatment for congenital chloride diarrhea. (21127979)
2011
10
Compound heterozygous mutations in the SLC26A3 gene in 2 Spanish siblings with congenital chloride diarrhea. (21150650)
2011
11
Congenital chloride diarrhea misdiagnosed as Bartter syndrome. (21805424)
2011
12
Update on SLC26A3 mutations in congenital chloride diarrhea. (21394828)
2011
13
Successful pregnancy in a female patient with congenital chloride diarrhea (CLD) and renal impairment. (19967661)
2009
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
Congenital chloride diarrhea: a missed diagnosis in an adult patient. (17531020)
2007
18
Prenatal sonographic findings and biochemical assessment of amniotic fluid in a fetus with congenital chloride diarrhea. (18029937)
2007
19
Long-term clinical outcome in patients with congenital chloride diarrhea. (16641574)
2006
20
Renal abnormalities in congenital chloride diarrhea. (15138536)
2004
21
Butyrate as an effective treatment of congenital chloride diarrhea. (15300594)
2004
22
Congenital chloride diarrhea in a child. (12923597)
2003
23
SLC26A3 mutations in congenital chloride diarrhea. (12442266)
2002
24
Japanese siblings with congenital chloride diarrhea. (10881594)
2000
25
The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells. (10857479)
2000
26
Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea. (9886994)
1999
27
Intestinal inflammation reduces expression of DRA, a transporter responsible for congenital chloride diarrhea. (9843783)
1998
28
Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene. (9554749)
1998
29
Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait. (9718329)
1998
30
Congenital chloride diarrhea in a Turkish boy. (8701491)
1996
31
Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31. (8963897)
1996
32
Congenital chloride diarrhea: A single center experience with ten patients. (17590642)
1995
33
Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium. (7611301)
1995
34
Congenital chloride diarrhea: Is it a common disorder in Saudi Arabia? (17590634)
1995
35
Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea. (7942853)
1994
36
A girl having congenital chloride diarrhea treated with spironolactone for seven years. (7942007)
1994
37
Congenital chloride diarrhea. A study in Arab children. (7930431)
1994
38
The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator. (7504277)
1993
39
Effects of indomethacin in congenital chloride diarrhea. (1619538)
1992
40
Prenatal presentation of congenital chloride diarrhea: clinical report and review of the literature. (1418143)
1992
41
False diagnosis of intestinal obstruction in a fetus with congenital chloride diarrhea. (1812257)
1991
42
Antenatal sonographic findings of congenital chloride diarrhea. (2492559)
1989
43
Dental involvement in congenital chloride diarrhea. (6440962)
1984
44
Congenital chloride diarrhea. (7049691)
1982
45
Congenital chloride diarrhea. (7319618)
1981
46
Congenital chloride diarrhea: possibility for prenatal diagnosis. (7211368)
1980
47
The renal lesion in congenital chloride diarrhea. (909012)
1977
48
Colonic electrolyte transport in health and in congenital chloride diarrhea. (1150872)
1975
49
Congenital chloride diarrhea. (4821323)
1974
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

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Congenital Chloride Diarrhea:

63 (show all 18)
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome
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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

Sources:
45Novoseek, 24HMDB, 50PharmGKB, 11DrugBank, 60Tocris Bioscience, 2BitterDB, 29IUPHAR
See all sources

Compounds related to Congenital Chloride Diarrhea according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1oxalate459.6SLC26A2, SLC26A4
2iodide45 2410.5SLC26A4, SLC26A2
3formate459.5SLC26A2, SLC26A4
4chlorine45 2410.4SLC26A4, SLC26A3
5enalapril45 50 1111.4IL10, REN
6digoxin45 50 60 11 2413.3IL10, REN
7corticosterone45 60 2411.2IL10, REN
8bicarbonate459.2SLC26A3, SLC26A4, SLC26A2
9sulfate45 2410.2SLC26A2, SLC26A4, SLC26A3
10prostacyclin459.1IL10, REN
11hydrocortisone45 2 60 1112.0IL10, REN
12nacl458.8SLC26A4, SLC26A3, REN
13thyroxine45 249.8REN, IL10, SLC26A4
14dexamethasone45 50 29 1111.7REN, IL10, SLC26A2
15chloride458.4SLC26A2, SLC26A4, SLC26A3, REN
16nitric oxide45 11 2410.2REN, IL10, SLC26A4

GO Terms for genes affiliated with Congenital Chloride Diarrhea

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Congenital Chloride Diarrhea

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet