MCID: CNG064
MIFTS: 35

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 neuronitis. An important gene associated with Congenital Chloride Diarrhea is SLC26A3 (Solute Carrier Family 26 Member 3). Affiliated tissues include lung, skin and testis.

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 the top 20 diseases related to Congenital Chloride Diarrhea:



Diseases related to congenital chloride diarrhea

Symptoms for Congenital Chloride Diarrhea

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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
Lung, Skin, Testis, Neutrophil, Fetal lung, Endothelial, 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 67)
idTitleAuthorsYear
1
The Janus faces of acquired angioedema: C1-inhibitor deficiency, lymphoproliferation and autoimmunity. (26068904)
2015
2
FBXO44-Mediated Degradation of RGS2 Protein Uniquely Depends on a Cullin 4B/DDB1 Complex. (25970626)
2015
3
Prevalence of vitamin d deficiency and effects of supplementation with cholecalciferol in patients with chronic kidney disease. (24216258)
2014
4
WaldenstrAPm macroglobulinemia: from biology to treatment. (24405328)
2014
5
HDAC2 provides a critical support to malignant progression of hepatocellular carcinoma through feedback control of mTORC1 and AKT. (24448241)
2014
6
Plasma lipoprotein(a) levels are associated with mild renal impairment in type 2 diabetics independent of albuminuria. (25490096)
2014
7
Resistance to second-line drugs in multidrug-resistant tuberculosis. (23439097)
2013
8
The expected and unexpected: incidental discovery of an ovarian mass with acute appendicitis. (23975051)
2013
9
Do We Really Need Ribavirin in the Treatment of Crimean-Congo Hemorrhagic Fever? (24091085)
2013
10
Granulocytic Sarcoma with AML in Pregnancy. (24431690)
2013
11
Invasive aspergillosis in a renal transplant recipient successfully treated with interferon-gamma. (23259133)
2012
12
Perinephric drain - an unusual suspect of ureteral obstruction after open pyelolithotomy. (22482393)
2012
13
Two cases of primary pulmonary angiosarcoma as a rare cause of lung haemorrhage. (21566500)
2011
14
Growing mammary choristoma masquerading as a lumbosacral lipomyelomeningocele in a pubertal girl. (21882926)
2011
15
RhoBTB2 (DBC2) comes of age as a multifunctional tumor suppressor. (20980811)
2010
16
The role of focal epilepsy in the development of jacksonian localization. (20183206)
2009
17
Prognostic significance and molecular associations of 18q loss of heterozygosity: a cohort study of microsatellite stable colorectal cancers. (19704056)
2009
18
Mansonella perstans filariasis in Uganda: patterns of microfilaraemia and clinical manifestations in two endemic communities. (18809192)
2009
19
Febrile seizures. (19450310)
2008
20
Case report: Concurrent congenital complete atrioventricular block, Meckel's diverticulum and cerebral palsy in a 19-year-old male. (17582526)
2007
21
Human newborn polymorphonuclear neutrophils exhibit decreased levels of MyD88 and attenuated p38 phosphorylation in response to lipopolysaccharide. (17716541)
2007
22
The neurodegenerative disease protein ataxin-1 antagonizes the neuronal survival function of myocyte enhancer factor-2. (17646162)
2007
23
Cutis marmorata telangiectatica congenita and neonatal lupus. (17542891)
2007
24
Cholesteatoma of the external ear canal: etiological factors, symptoms and clinical findings in a series of 48 cases. (17187684)
2006
25
Comparative in vitro analysis of vacuum plasma-sprayed titanium implants--evaluation of OPG, Osteokalzin and AP expression]. (17187340)
2006
26
Are occupational risk factors associated with markers of disease severity in patients with systemic scleroderma? (16932644)
2006
27
Von hippel-lindau disease. (20223044)
2005
28
Retinoic acid induces VEGF gene expression in human retinal pigment epithelial cells (ARPE-19). (16386082)
2005
29
Regulation of interleukin-18 binding protein production by blood and synovial cells from patients with rheumatoid arthritis. (15188356)
2004
30
Liver-targeted disruption of Apc in mice activates beta-catenin signaling and leads to hepatocellular carcinomas. (15563600)
2004
31
Preoperative administration of rebamipide significantly lowers body temperature and circulating interleukin-6 in gastric cancer patients after gastrectomy. (14506330)
2003
32
Mouse Wnt9b transforming activity, tissue-specific expression, and evolution. (12573259)
2003
33
Glial-neuronal-endothelial interactions are involved in the control of GnRH secretion. (11999726)
2002
34
Pyoderma gangrenosum associated with paroxysmal nocturnal hemoglobulinuria and monoclonal gammopathy. (11890301)
2002
35
Quaternary structure of the ATPase complex of human 26S proteasomes determined by chemical cross-linking. (11361004)
2001
36
Identification and characterization of a new gene from human chromosome 21 between markers D21S343 and D21S268 encoding a leucine- rich protein. (9784380)
1998
37
The pathogenesis of chorioretinal disease in onchocerciasis. (15275111)
1997
38
Markers of masked iron deficiency and effectiveness of EPO therapy in chronic renal failure. (9328369)
1997
39
Mitochondrial abnormalities in CLN2 and CLN3 forms of Batten disease. (8971698)
1996
40
Etiology and clinical features of anterior uveitis in southern croatia (dalmatia). (22827458)
1996
41
Orotracheal intubation through the laryngeal mask airway in paediatric patients with Treacher-Collins syndrome. (7489423)
1995
42
The correlation of P53 protein expression with proliferative activity and occult metastases in clinical stage I non-seminomatous germ cell tumors of the testis. (7909155)
1994
43
Estrogen and phenol sulfotransferase activities in human fetal lung. (1582375)
1992
44
Decrease in mesencephalic dopamine autoreceptors in experimental herpes simplex encephalitis. (1418868)
1992
45
Neuroaxonal dystrophy associated with vitamin E deficiency in two Haflinger horses. (2394844)
1990
46
Longitudinal tibial epiphyseal bracket in Nievergelt syndrome. (2717950)
1989
47
Carbuncle--a conservative approach. (3681747)
1987
48
The leftward deletion alpha-thal-2 haplotype in a black subject with hemoglobin SS. (3971048)
1985
49
Benzodiazepine receptor binding in cerebellar cortex: observations in olivopontocerebellar atrophy. (6319600)
1984
50
BIOCHEMICAL disturbance in hepatic coma. (14382568)
1955

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