CLD
MCID: CNG064
MIFTS: 33

Congenital Chloride Diarrhea (CLD)

Categories: Gastrointestinal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Congenital Chloride Diarrhea

MalaCards integrated aliases for Congenital Chloride Diarrhea:

Name: Congenital Chloride Diarrhea 41 53 72
Familial Chloride Diarrhea 41 53
Chloride Diarrhea, Congenital, Finnish Type 41
Diarrhea 1, Secretory Chloride, Congenital 53
Chloridorrhea, Congenital 53
Congenital Chloridorrhea 53
Darrow-Gamble Disease 53
Diarrhea 1 41
Diar1 53
Cld 53

Classifications:



External Ids:

UMLS 72 C0267662

Summaries for Congenital Chloride Diarrhea

NIH Rare Diseases : 53 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.

MalaCards based summary : Congenital Chloride Diarrhea, also known as familial chloride diarrhea, is related to diastrophic dysplasia and pendred syndrome, and has symptoms including diarrhea and watery diarrhea. An important gene associated with Congenital Chloride Diarrhea is SLC26A3 (Solute Carrier Family 26 Member 3). The drugs Sotalol and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, colon and testes.

Wikipedia : 75 Congenital chloride diarrhea (CCD, also congenital chloridorrhea or Darrow Gamble syndrome) is a genetic... more...

Related Diseases for Congenital Chloride Diarrhea

Diseases related to Congenital Chloride Diarrhea via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 diastrophic dysplasia 29.4 SLC26A3 SLC26A2
2 pendred syndrome 28.9 SLC26A3 SLC26A2
3 diarrhea 1, secretory chloride, congenital 12.2
4 lipase deficiency, combined 12.2
5 diarrhea 5, with tufting enteropathy, congenital 11.3
6 diarrhea 2, with microvillus atrophy 11.2
7 diarrhea 6 11.2
8 diarrhea 9 11.2
9 diarrhea 10, protein-losing enteropathy type 11.2
10 diarrhea 10.9
11 autosomal recessive disease 10.6
12 liver disease 10.6
13 polyhydramnios 10.5
14 lung disease 10.4
15 hypokalemia 10.4
16 adenoma 10.3
17 biliary atresia, extrahepatic 10.3
18 crigler-najjar syndrome, type i 10.3
19 wilson disease 10.3
20 portal hypertension 10.3
21 portal vein thrombosis 10.3
22 hepatorenal syndrome 10.3
23 hepatic coma 10.3
24 hepatic encephalopathy 10.3
25 biliary atresia 10.3
26 peritonitis 10.3
27 hepatopulmonary syndrome 10.3
28 cholangitis 10.3
29 pulmonary arterial hypertension associated with portal hypertension 10.3
30 secretory diarrhea 10.3
31 bartter disease 10.3
32 intestinal obstruction 10.3
33 hypertriglyceridemia, familial 10.2
34 nephrocalcinosis 10.2
35 ileus 10.2
36 inherited metabolic disorder 10.1
37 cystic fibrosis 10.1
38 meconium ileus 10.1
39 bilirubin metabolic disorder 10.1
40 end stage renal failure 10.1
41 lactase deficiency, congenital 10.0
42 pancreatic cancer 10.0
43 hepatitis c virus 10.0
44 viral hepatitis 10.0
45 learning disability 10.0
46 hirschsprung disease 1 9.9
47 nephrolithiasis, calcium oxalate 9.9
48 celiac disease 1 9.9
49 enterocolitis 9.9
50 proteasome-associated autoinflammatory syndrome 1 9.9

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:


diarrhea, watery diarrhea

Drugs & Therapeutics for Congenital Chloride Diarrhea

Drugs for Congenital Chloride Diarrhea (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sotalol Approved Phase 4 959-24-0, 3930-20-9 5253
2 Neurotransmitter Agents Phase 4
3 Sodium Channel Blockers Phase 4
4 Diuretics, Potassium Sparing Phase 4
5 Adrenergic beta-Antagonists Phase 4
6 Peripheral Nervous System Agents Phase 4
7 Adrenergic Agents Phase 4
8 Adrenergic Antagonists Phase 4
9 Anti-Arrhythmia Agents Phase 4
10 Sympatholytics Phase 4
11 Autonomic Agents Phase 4
12
Rifaximin Approved, Investigational Phase 2 80621-81-4 46783403 6436173
13
Methyltestosterone Approved Phase 2 58-18-4 6010
14
Testosterone enanthate Approved Phase 2 315-37-7 9416
15
Testosterone Approved, Experimental, Investigational Phase 2 481-30-1, 58-22-0 6013 10204
16
Testosterone undecanoate Approved, Investigational Phase 2 5949-44-0
17
Vitamin C Approved, Nutraceutical Phase 2 50-81-7 54670067 5785
18 Gastrointestinal Agents Phase 2
19 Anti-Bacterial Agents Phase 2
20 Anti-Infective Agents Phase 2
21 Micronutrients Phase 2
22 Estrogens Phase 2
23 Trace Elements Phase 2
24 Androgens Phase 2
25 Hormones Phase 2
26 Antioxidants Phase 2
27 Estrogens, Conjugated (USP) Phase 2
28 Anabolic Agents Phase 2
29 Vitamins Phase 2
30 Protective Agents Phase 2
31 Antineoplastic Agents, Hormonal Phase 2
32 Nutrients Phase 2
33 Hormone Antagonists Phase 2
34 Testosterone 17 beta-cypionate Phase 2
35 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
36
Histamine Approved, Investigational 51-45-6 774
37
Loperamide Approved 53179-11-6 3955
38
Midazolam Approved, Illicit 59467-70-8 4192
39
Butyric Acid Experimental, Investigational 107-92-6 264
40 Cola
41 Histamine Antagonists
42
Histamine Phosphate 51-74-1 65513
43 Pharmaceutical Solutions
44 Grapefruit Seed Extract

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Pilot and Feasibility Study to Determine if a Common Atrial Fibrillation Risk Locus Modulates Differential Response to Antiarrhythmic Drugs Recruiting NCT02347111 Phase 4 Flecainide;Sotalol
2 A Randomized, Double-Blind, Single Center, Comparative Dose Ranging Study of Rifaximin Vs. Placebo in the Prevention of Travelers' Diarrhea Due to Enteropathogenic Bacteria Completed NCT00098384 Phase 2 rifaximin
3 Dynamics of Androgen Receptor Genomics and Transcriptomics After Neoadjuvant Androgen Ablation Completed NCT03297385 Phase 2 Enzalutamide
4 Epidemiology of Chronic Diarrhea Among Children Admitted to Gastroenterology Unit at Assuit University Children Hospital Unknown status NCT03261297
5 Effects of Butyrate on Colonic Health of Patients With Diarrhoea Predominant Completed NCT00696098
6 The Bowel Preparation for Magnetic Resonance Enterography: a Open Label, Multicenter Randomized Controlled Trial Recruiting NCT03541733
7 A Pharmacokinetic Study to Assess and Compare the Drug Interaction Risk of the Grapefruit Juice and Dietary Supplements Known to Inhibit CYP3A Enzyme Activity Not yet recruiting NCT02257879

Search 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:

41
Kidney, Colon, Testes, Testis

Publications for Congenital Chloride Diarrhea

Articles related to Congenital Chloride Diarrhea:

(show top 50) (show all 137)
# Title Authors PMID Year
1
Proton pump inhibitor treatment for congenital chloride diarrhea. 38 6
21127979 2011
2
Congenital Sodium Diarrhea by mutation of the SLC9A3 gene. 38
31276831 2019
3
The utility of next generation sequencing in the correct diagnosis of congenital hypochloremic hypokalemic metabolic alkalosis. 38
31325522 2019
4
Exome Sequencing in Clinical Hepatology. 38
31222768 2019
5
Slc26 Family of Anion Transporters in the Gastrointestinal Tract: Expression, Function, Regulation, and Role in Disease. 38
30873581 2019
6
Case Report on a Rare Disease in Lithuania: Congenital Chloride Diarrhea. 38
30775050 2019
7
Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis. 38
30760291 2019
8
Functional characterization of SLC26A3 c.392C>G (p.P131R) mutation in intestinal barrier function using CRISPR/CAS9-created cell models. 38
31114672 2019
9
Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case report. 38
30635044 2019
10
Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome. 38
29849040 2018
11
Tumor necrosis factor-α acts reciprocally with solute carrier family 26, member 3, (downregulated-in-adenoma) and reduces its expression, leading to intestinal inflammation. 38
29286110 2018
12
Surgical consequences in infants with delayed diagnosis of congenital chloride diarrhea. 38
29086717 2017
13
A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR. 38
29079751 2017
14
Loss of the anion exchanger DRA (Slc26a3), or PAT1 (Slc26a6), alters sulfate transport by the distal ileum and overall sulfate homeostasis. 38
28526688 2017
15
Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea. 38
28644346 2017
16
Congenital Chloride Diarrhea (CCD): A Case Report of CCD Suspected by Prenatal Ultrasonography and Magnetic Resonance Imaging (MRI). 38
28646130 2017
17
Honeycomb fetal abdomen: characteristic sign of congenital chloride diarrhea. 38
26916838 2016
18
Congenital Chloride Diarrhea - Novel Mutation in SLC26A3 Gene. 38
26637435 2016
19
SLC26A3 gene mutations in Tunisian patients with congenital chloride diarrhea. 38
27525615 2016
20
Congenital Chloride Diarrhea: Diagnosis by Easy-Accessible Chloride Measurement in Feces. 38
27635272 2016
21
Congenital Chloride Diarrhea: Accurate Prenatal Diagnosis Using Color Doppler Sonography to Show the Passage of Diarrhea. 38
26446821 2015
22
Congenital chloride-losing diarrhea in a Mexican child with the novel homozygous SLC26A3 mutation G393W. 38
26157392 2015
23
Japanese neonate with congenital chloride diarrhea caused by SLC26A3 mutation. 38
25711268 2015
24
[Expression pattern of congenital chloride diarrhea pathogenic gene Slc26a3 in the reproductive tract of male rodents]. 38
25297603 2014
25
Functional interaction of the cystic fibrosis transmembrane conductance regulator with members of the SLC26 family of anion transporters (SLC26A8 and SLC26A9): physiological and pathophysiological relevance. 38
24530837 2014
26
Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea. 38
24350656 2013
27
[Congenital chloride diarrhea mimicking meconium ileus in newborn]. 38
24519774 2013
28
Congenital chloride diarrhea in dizygotic twins. 38
24224154 2013
29
Congenital chloride diarrhea misdiagnosed as pseudo-Bartter syndrome. 38
24381629 2013
30
Sulfate secretion and chloride absorption are mediated by the anion exchanger DRA (Slc26a3) in the mouse cecum. 38
23660504 2013
31
Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics. 38
23274434 2013
32
Congenital chloride diarrhea presenting in newborn as a rare cause of meconium ileus. 38
23361499 2013
33
Congenital chloride diarrhea: a review of twelve Arabian children. 38
23776341 2013
34
Identification of SLC26A3 mutations in a Korean patient with congenital chloride diarrhea. 38
22779076 2012
35
Antenatal differential diagnosis of congenital chloride diarrhea: a case report. 38
22568939 2012
36
Prenatal diagnosis and management of congenital chloride diarrhea: A case report of 2 siblings. 38
22362191 2012
37
LPA stimulates intestinal DRA gene transcription via LPA2 receptor, PI3K/AKT, and c-Fos-dependent pathway. 38
22159277 2012
38
The testis anion transporter TAT1 (SLC26A8) physically and functionally interacts with the cystic fibrosis transmembrane conductance regulator channel: a potential role during sperm capacitation. 38
22121115 2012
39
Type IV neonatal Bartter syndrome complicated with congenital chloride diarrhea. 38
23569535 2012
40
Update on SLC26A3 mutations in congenital chloride diarrhea. 38
21394828 2011
41
Significance of molecular testing for congenital chloride diarrhea. 38
21694535 2011
42
Congenital chloride diarrhea misdiagnosed as Bartter syndrome. 38
21805424 2011
43
Prenatal differential diagnosis of congenital chloride diarrhea: the importance of a dilated fluid-filled rectum. 38
21283961 2011
44
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. 38
21853658 2011
45
Compound heterozygous mutations in the SLC26A3 gene in 2 Spanish siblings with congenital chloride diarrhea. 38
21150650 2011
46
A Turkish case of congenital chloride diarrhea with SLC26A3 gene (c.2025_2026insATC) mutation: diagnostic pitfalls. 38
21332001 2010
47
Microvillus inclusion disease: prenatal ultrasound findings, molecular diagnosis and genetic counseling of congenital diarrhea. 38
21199752 2010
48
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. 38
19861545 2009
49
Successful pregnancy in a female patient with congenital chloride diarrhea (CLD) and renal impairment. 38
19967661 2009
50
Regulation of intestinal Cl-/HCO3- exchanger SLC26A3 by intracellular pH. 38
19321737 2009

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 SLC26A3 SLC26A2

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 9.32 SLC26A3 SLC26A2
2 bicarbonate transport GO:0015701 9.26 SLC26A3 SLC26A2
3 sulfate transport GO:0008272 9.16 SLC26A3 SLC26A2
4 sulfate transmembrane transport GO:1902358 8.96 SLC26A3 SLC26A2
5 oxalate transport GO:0019532 8.62 SLC26A3 SLC26A2

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

# Name GO ID Score Top Affiliating Genes
1 anion:anion antiporter activity GO:0015301 9.37 SLC26A3 SLC26A2
2 sulfate transmembrane transporter activity GO:0015116 9.32 SLC26A3 SLC26A2
3 chloride transmembrane transporter activity GO:0015108 9.26 SLC26A3 SLC26A2
4 bicarbonate transmembrane transporter activity GO:0015106 9.16 SLC26A3 SLC26A2
5 secondary active sulfate transmembrane transporter activity GO:0008271 8.96 SLC26A3 SLC26A2
6 oxalate transmembrane transporter activity GO:0019531 8.62 SLC26A3 SLC26A2

Sources for Congenital Chloride Diarrhea

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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