MCID: CNG064
MIFTS: 29

Congenital Chloride Diarrhea

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Congenital Chloride Diarrhea

MalaCards integrated aliases for Congenital Chloride Diarrhea:

Name: Congenital Chloride Diarrhea 38 49 69
Familial Chloride Diarrhea 38 49
Chloride Diarrhea, Congenital, Finnish Type 38
Diarrhea 1, Secretory Chloride, Congenital 49
Chloridorrhea, Congenital 49
Congenital Chloridorrhea 49
Darrow-Gamble Disease 49
Diarrhea 1 38
Diar1 49
Cld 49

Classifications:



Summaries for Congenital Chloride Diarrhea

NIH Rare Diseases : 49 Congenital chloride diarrhea (CCD) is a lifelong condition that causes large, watery stools (diarrhea) that contain an excess of chloride. Those with CCD have diarrhea even before birth. Signs of CCD before birth may be detected with an ultrasound, and may include an increased amount of amniotic fluid (polyhydramnios) and enlarged (dilated) intestinal loops in the fetus. Newborns with CCD are often premature and may have a swollen-looking abdomen (abdominal distention). For this reason, CCD is sometimes first mistaken for an intestinal obstruction. CCD causes electrolyte imbalances including low blood sodium levels (hyponatremia) and chloride levels (hypochloremia). Electrolyte imbalances and severe dehydration can lead to volume depletion (too little fluid surrounding body cells), loss of acid from the blood (metabolic alkalosis), hyperaldosteronism, delayed growth and development, and kidney damage (nephropathy). Untreated CCD can ultimately be fatal within the first weeks or months of life. CCD is caused by mutations in the SLC26A3 gene and inheritance is autosomal recessive. The diagnosis is based on detecting excessive chloride in the feces, when the newborn is in fluid and electrolyte balance. Treatment aims to control symptoms by replacing lost electrolytes and water, and typically involves oral or intravenous sodium chloride and potassium chloride. Infants who are diagnosed and treated very shortly after birth have the potential to grow and develop normally. If not treated adequately, CCD ultimately causes chronic kidney disease. Last updated: 2/1/2018

MalaCards based summary : Congenital Chloride Diarrhea, also known as familial chloride diarrhea, is related to diarrhea 1, secretory chloride, congenital and lipase deficiency, combined, and has symptoms including watery diarrhea and diarrhea. An important gene associated with Congenital Chloride Diarrhea is SLC26A3 (Solute Carrier Family 26 Member 3). Affiliated tissues include kidney, colon and testes, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Congenital Chloride Diarrhea

Graphical network of the top 20 diseases related to Congenital Chloride Diarrhea:



Diseases related to Congenital Chloride Diarrhea

Symptoms & Phenotypes for Congenital Chloride Diarrhea

UMLS symptoms related to Congenital Chloride Diarrhea:


watery diarrhea, diarrhea

GenomeRNAi Phenotypes related to Congenital Chloride Diarrhea according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.36 SLC26A2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.36 SLC26A2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.36 SLC26A2 SLC26A3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.36 SLC26A2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-155 9.36 SLC26A2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.36 SLC26A2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.36 SLC26A3
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.36 SLC26A3
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.36 SLC26A3
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.36 SLC26A3

Drugs & Therapeutics for Congenital Chloride Diarrhea

Search Clinical Trials , NIH Clinical Center for Congenital Chloride Diarrhea

Genetic Tests for Congenital Chloride Diarrhea

Anatomical Context for Congenital Chloride Diarrhea

MalaCards organs/tissues related to Congenital Chloride Diarrhea:

38
Kidney, Colon, Testes

Publications for Congenital Chloride Diarrhea

Articles related to Congenital Chloride Diarrhea:

(show top 50) (show all 75)
# Title Authors Year
1
Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea. ( 28644346 )
2017
2
Surgical consequences in infants with delayed diagnosis of congenital chloride diarrhea. ( 29086717 )
2017
3
Congenital Chloride Diarrhea (CCD): A Case Report of CCD Suspected by Prenatal Ultrasonography and Magnetic Resonance Imaging (MRI). ( 28646130 )
2017
4
Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea. ( 27657883 )
2016
5
SLC26A3 gene mutations in Tunisian patients with congenital chloride diarrhea. ( 27525615 )
2016
6
Honeycomb fetal abdomen: characteristic sign of congenital chloride diarrhea. ( 26916838 )
2016
7
Congenital Chloride Diarrhea: Diagnosis by Easy-Accessible Chloride Measurement in Feces. ( 27635272 )
2016
8
Congenital Chloride Diarrhea - Novel Mutation in SLC26A3 Gene. ( 26637435 )
2015
9
Congenital Chloride Diarrhea: Accurate Prenatal Diagnosis Using Color Doppler Sonography to Show the Passage of Diarrhea. ( 26446821 )
2015
10
Japanese neonate with congenital chloride diarrhea caused by SLC26A3 mutation. ( 25711268 )
2015
11
Congenital chloride diarrhea presenting in newborn as a rare cause of meconium ileus. ( 23361499 )
2013
12
Congenital chloride diarrhea: a review of twelve Arabian children. ( 23776341 )
2013
13
Congenital chloride diarrhea in dizygotic twins. ( 24224154 )
2013
14
Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea. ( 24350656 )
2013
15
Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics. ( 23274434 )
2013
16
Congenital chloride diarrhea misdiagnosed as pseudo-Bartter syndrome. ( 24381629 )
2013
17
Identification of SLC26A3 mutations in a Korean patient with congenital chloride diarrhea. ( 22779076 )
2012
18
Antenatal differential diagnosis of congenital chloride diarrhea: a case report. ( 22568939 )
2012
19
Prenatal diagnosis and management of congenital chloride diarrhea: A case report of 2 siblings. ( 22362191 )
2012
20
Type IV neonatal Bartter syndrome complicated with congenital chloride diarrhea. ( 23569535 )
2012
21
Congenital chloride diarrhea misdiagnosed as Bartter syndrome. ( 21805424 )
2011
22
Significance of molecular testing for congenital chloride diarrhea. ( 21694535 )
2011
23
Compound heterozygous mutations in the SLC26A3 gene in 2 Spanish siblings with congenital chloride diarrhea. ( 21150650 )
2011
24
Update on SLC26A3 mutations in congenital chloride diarrhea. ( 21394828 )
2011
25
Proton pump inhibitor treatment for congenital chloride diarrhea. ( 21127979 )
2011
26
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
27
Prenatal differential diagnosis of congenital chloride diarrhea: the importance of a dilated fluid-filled rectum. ( 21283961 )
2011
28
A Turkish case of congenital chloride diarrhea with SLC26A3 gene (c.2025_2026insATC) mutation: diagnostic pitfalls. ( 21332001 )
2010
29
Successful pregnancy in a female patient with congenital chloride diarrhea (CLD) and renal impairment. ( 19967661 )
2009
30
The impact of sodium chloride and volume depletion in the chronic kidney disease of congenital chloride diarrhea. ( 18827800 )
2008
31
Celiac disease in a girl with congenital chloride diarrhea: coincidence of 2 diarrheal disorders. ( 18852645 )
2008
32
Oral butyrate in treatment of congenital chloride diarrhea. ( 18184140 )
2008
33
A novel homozygous SLC26A3 nonsense mutation in a Tyrolean girl with congenital chloride diarrhea. ( 18728535 )
2008
34
Prenatal sonographic findings and biochemical assessment of amniotic fluid in a fetus with congenital chloride diarrhea. ( 18029937 )
2007
35
Congenital chloride diarrhea: a missed diagnosis in an adult patient. ( 17531020 )
2007
36
Long-term clinical outcome in patients with congenital chloride diarrhea. ( 16641574 )
2006
37
Butyrate as an effective treatment of congenital chloride diarrhea. ( 15300594 )
2004
38
Renal abnormalities in congenital chloride diarrhea. ( 15138536 )
2004
39
Congenital chloride diarrhea in a child. ( 12923597 )
2003
40
SLC26A3 mutations in congenital chloride diarrhea. ( 12442266 )
2002
41
Congenital chloride diarrhea: antenatal ultrasonographic findings in siblings. ( 11587020 )
2001
42
Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea. ( 11524734 )
2001
43
Congenital chloride diarrhea from the west coast of the Kingdom of Saudi Arabia. ( 11533786 )
2000
44
The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells. ( 10857479 )
2000
45
Japanese siblings with congenital chloride diarrhea. ( 10881594 )
2000
46
Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea. ( 9886994 )
1999
47
Genetic Disorders of Membrane Transport III. Congenital chloride diarrhea. ( 9886972 )
1999
48
Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene. ( 9554749 )
1998
49
Intestinal inflammation reduces expression of DRA, a transporter responsible for congenital chloride diarrhea. ( 9843783 )
1998
50
Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait. ( 9718329 )
1998

Variations for Congenital Chloride Diarrhea

Expression for Congenital Chloride Diarrhea

Search GEO for disease gene expression data for Congenital Chloride Diarrhea.

Pathways for Congenital Chloride Diarrhea

GO Terms for Congenital Chloride Diarrhea

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

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 8.62 SLC26A2 SLC26A3

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

# Name GO ID Score Top Affiliating Genes
1 chloride transmembrane transport GO:1902476 9.4 SLC26A2 SLC26A3
2 regulation of membrane potential GO:0042391 9.37 SLC26A2 SLC26A3
3 bicarbonate transport GO:0015701 9.32 SLC26A2 SLC26A3
4 regulation of intracellular pH GO:0051453 9.26 SLC26A2 SLC26A3
5 sulfate transport GO:0008272 9.16 SLC26A2 SLC26A3
6 sulfate transmembrane transport GO:1902358 8.96 SLC26A2 SLC26A3
7 oxalate transport GO:0019532 8.62 SLC26A2 SLC26A3

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

# Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 9.37 SLC26A2 SLC26A3
2 anion:anion antiporter activity GO:0015301 9.32 SLC26A2 SLC26A3
3 bicarbonate transmembrane transporter activity GO:0015106 9.26 SLC26A2 SLC26A3
4 sulfate transmembrane transporter activity GO:0015116 9.16 SLC26A2 SLC26A3
5 secondary active sulfate transmembrane transporter activity GO:0008271 8.96 SLC26A2 SLC26A3
6 oxalate transmembrane transporter activity GO:0019531 8.62 SLC26A2 SLC26A3

Sources for Congenital Chloride Diarrhea

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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