MCID: CNG064
MIFTS: 32

Congenital Chloride Diarrhea malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Congenital Chloride Diarrhea

About this section

Aliases & Descriptions for Congenital Chloride Diarrhea:

Name: Congenital Chloride Diarrhea 35 47 67
Familial Chloride Diarrhea 35 47 24
Congenital Secretory Diarrhea, Chloride Type 24 26
Chloride Diarrhea, Congenital, Finnish Type 35 12
Cld 47 24
Diarrhea 1, Secretory Chloride, Congenital 47
 
Chloridorrhea, Congenital 47
Congenital Chloridorrhea 47
Darrow-Gamble Disease 47
Diarrhea 1 35
Diar1 47

Classifications:



Summaries for Congenital Chloride Diarrhea

About this section
Wikipedia:70 Congenital chloride diarrhea (CCD, also congenital chloridorrhea or Darrow Gamble syndrome) is a genetic... more...

MalaCards based summary: Congenital Chloride Diarrhea, also known as familial chloride diarrhea, is related to diarrhea 1, secretory chloride, congenital and diarrhea 5, with tufting enteropathy, congenital, and has symptoms including diarrhea, diarrhea and watery diarrhoea. An important gene associated with Congenital Chloride Diarrhea is SLC26A3 (Solute Carrier Family 26 Member 3). Affiliated tissues include colon, testes and kidney.

Related Diseases for Congenital Chloride Diarrhea

About this section

Graphical network of diseases related to Congenital Chloride Diarrhea:



Diseases related to congenital chloride diarrhea

Symptoms for Congenital Chloride Diarrhea

About this section

UMLS symptoms related to Congenital Chloride Diarrhea:


diarrhea, watery diarrhoea

Drugs & Therapeutics for Congenital Chloride Diarrhea

About this section

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

About this section

Genetic tests related to Congenital Chloride Diarrhea:

id Genetic test Affiliating Genes
1 Congenital Secretory Diarrhea, Chloride Type26
2 Familial Chloride Diarrhea24 SLC26A3

Anatomical Context for Congenital Chloride Diarrhea

About this section

MalaCards organs/tissues related to Congenital Chloride Diarrhea:

35
Colon, Testes, Kidney

Animal Models for Congenital Chloride Diarrhea or affiliated genes

About this section

Publications for Congenital Chloride Diarrhea

About this section

Articles related to Congenital Chloride Diarrhea:

(show top 50)    (show all 72)
idTitleAuthorsYear
1
Congenital Chloride Diarrhea: Diagnosis by Easy-Accessible Chloride Measurement in Feces. (27635272)
2016
2
SLC26A3 gene mutations in Tunisian patients with congenital chloride diarrhea. (27525615)
2016
3
Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea. (27657883)
2016
4
Honeycomb fetal abdomen: characteristic sign of congenital chloride diarrhea. (26916838)
2016
5
Congenital Chloride Diarrhea - Novel Mutation in SLC26A3 Gene. (26637435)
2015
6
Congenital Chloride Diarrhea: Accurate Prenatal Diagnosis Using Color Doppler Sonography to Show the Passage of Diarrhea. (26446821)
2015
7
Japanese neonate with congenital chloride diarrhea caused by SLC26A3 mutation. (25711268)
2015
8
Congenital chloride diarrhea presenting in newborn as a rare cause of meconium ileus. (23361499)
2013
9
Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea. (24350656)
2013
10
Congenital chloride diarrhea misdiagnosed as pseudo-Bartter syndrome. (24381629)
2013
11
Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics. (23274434)
2013
12
Congenital chloride diarrhea in dizygotic twins. (24224154)
2013
13
Congenital chloride diarrhea: a review of twelve Arabian children. (23776341)
2013
14
Type IV neonatal Bartter syndrome complicated with congenital chloride diarrhea. (23569535)
2012
15
Prenatal diagnosis and management of congenital chloride diarrhea: A case report of 2 siblings. (22362191)
2012
16
Proton pump inhibitor treatment for congenital chloride diarrhea. (21127979)
2011
17
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
18
Update on SLC26A3 mutations in congenital chloride diarrhea. (21394828)
2011
19
Significance of molecular testing for congenital chloride diarrhea. (21694535)
2011
20
Prenatal differential diagnosis of congenital chloride diarrhea: the importance of a dilated fluid-filled rectum. (21283961)
2011
21
A Turkish case of congenital chloride diarrhea with SLC26A3 gene (c.2025_2026insATC) mutation: diagnostic pitfalls. (21332001)
2010
22
Successful pregnancy in a female patient with congenital chloride diarrhea (CLD) and renal impairment. (19967661)
2009
23
The impact of sodium chloride and volume depletion in the chronic kidney disease of congenital chloride diarrhea. (18827800)
2008
24
Celiac disease in a girl with congenital chloride diarrhea: coincidence of 2 diarrheal disorders. (18852645)
2008
25
Prenatal sonographic findings and biochemical assessment of amniotic fluid in a fetus with congenital chloride diarrhea. (18029937)
2007
26
Congenital chloride diarrhea: a missed diagnosis in an adult patient. (17531020)
2007
27
Long-term clinical outcome in patients with congenital chloride diarrhea. (16641574)
2006
28
Renal abnormalities in congenital chloride diarrhea. (15138536)
2004
29
Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea. (11524734)
2001
30
Congenital chloride diarrhea from the west coast of the Kingdom of Saudi Arabia. (11533786)
2000
31
Japanese siblings with congenital chloride diarrhea. (10881594)
2000
32
Genetic Disorders of Membrane Transport III. Congenital chloride diarrhea. (9886972)
1999
33
Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea. (9886994)
1999
34
Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait. (9718329)
1998
35
Intestinal inflammation reduces expression of DRA, a transporter responsible for congenital chloride diarrhea. (9843783)
1998
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
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
Prenatal presentation of congenital chloride diarrhea: clinical report and review of the literature. (1418143)
1992
43
False diagnosis of intestinal obstruction in a fetus with congenital chloride diarrhea. (1812257)
1991
44
Antenatal sonographic findings of congenital chloride diarrhea. (2492559)
1989
45
Dental involvement in congenital chloride diarrhea. (6440962)
1984
46
Congenital chloride diarrhea. (7049691)
1982
47
Congenital chloride diarrhea. (7319618)
1981
48
Electrolyte economy and its hormonal regulation in congenital chloride diarrhea. (643381)
1978
49
The renal lesion in congenital chloride diarrhea. (909012)
1977
50
Congenital chloride diarrhea. (4821323)
1974

Variations for Congenital Chloride Diarrhea

About this section

Clinvar genetic disease variations for Congenital Chloride Diarrhea:

5
id Gene Variation 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)SNVPathogenicrs121913030GRCh37Chr 7, 107432286: 107432286
3SLC26A3SLC26A3, 1-BP DEL, T344deletionPathogenicChr na, -1: -1
4SLC26A3SLC26A3, 3.5-KB DELdeletionPathogenicChr na, -1: -1
5SLC26A3NM_000111.2(SLC26A3): c.559G> T (p.Gly187Ter)SNVPathogenicrs121913032GRCh37Chr 7, 107431504: 107431504
6SLC26A3SLC26A3, 13-BP DELdeletionPathogenicChr na, -1: -1
7SLC26A3NM_000111.2(SLC26A3): c.1386G> A (p.Trp462Ter)SNVPathogenicrs121913033GRCh37Chr 7, 107420134: 107420134
8SLC26A3NM_000111.2(SLC26A3): c.2024_2026dupTCA (p.Ile675_Arg676insIle)duplicationLikely pathogenic, Pathogenicrs121913031GRCh37Chr 7, 107412535: 107412537

Expression for genes affiliated with Congenital Chloride Diarrhea

About this section
Search GEO for disease gene expression data for Congenital Chloride Diarrhea.

Pathways for genes affiliated with Congenital Chloride Diarrhea

About this section

GO Terms for genes affiliated with Congenital Chloride Diarrhea

About this section

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1sulfate transmembrane transportGO:190235810.0SLC26A2, SLC26A3
2oxalate transportGO:001953210.0SLC26A2, SLC26A3
3regulation of intracellular pHGO:00514539.9SLC26A2, SLC26A3
4chloride transmembrane transportGO:19024769.6SLC26A2, SLC26A3
5bicarbonate transportGO:00157019.4SLC26A2, SLC26A3
6ion transportGO:00068119.3SLC26A2, SLC26A3
7regulation of membrane potentialGO:00423919.3SLC26A2, SLC26A3

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

idNameGO IDScoreTop Affiliating Genes
1oxalate transmembrane transporter activityGO:00195319.8SLC26A2, SLC26A3
2secondary active sulfate transmembrane transporter activityGO:00082719.8SLC26A2, SLC26A3
3sulfate transmembrane transporter activityGO:00151169.8SLC26A2, SLC26A3
4anion:anion antiporter activityGO:00153019.7SLC26A2, SLC26A3
5bicarbonate transmembrane transporter activityGO:00151069.7SLC26A2, SLC26A3
6chloride channel activityGO:00052549.3SLC26A2, SLC26A3

Sources for Congenital Chloride Diarrhea

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet