CLD
MCID: CNG064
MIFTS: 52

Congenital Chloride Diarrhea (CLD) malady

Genetic diseases, Rare diseases, Gastrointestinal diseases categories
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Summaries for Congenital Chloride Diarrhea

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NIH Rare Diseases:42 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 adenoma and diarrhea, and has symptoms including An important gene associated with Congenital Chloride Diarrhea is SLC26A3 (solute carrier family 26 (anion exchanger), member 3), and among its related pathways is Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The compounds oxalate and iodide have been mentioned in the context of this disorder. Affiliated tissues include colon, kidney and testes, and related mouse phenotypes are endocrine/exocrine gland and skeleton.

Wikipedia:65 Congenital chloride diarrhea (CCD, also congenital chloridorrhea) is a genetic disorder due to an... more...

Description from OMIM:46 214700

Aliases & Classifications for Congenital Chloride Diarrhea

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Sources:
32MalaCards, 42NIH Rare Diseases, 48Orphanet, 62UMLS, 20GeneTests, 9diseasecard, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Congenital Chloride Diarrhea, Aliases & Descriptions:

Name: Congenital Chloride Diarrhea 32 42 48 62
Familial Chloride Diarrhea 32 42 20
Chloride Diarrhea, Congenital, Finnish Type 32 9
Diarrhea 1, Secretory Chloride, Congenital 42 46
Chloridorrhea, Congenital 42
 
Congenital Chloridorrhea 42
Darrow-Gamble Disease 42
Diarrhea 1 32
Diar1 42
Cld 42


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
congenital chloride diarrhea:
Inheritance: Autosomal recessive


External Ids:

OMIM46 214700
MESH via Orphanet35 C536210
ICD10 via Orphanet26 P78.3
UMLS via Orphanet63 C0267662

Related Diseases for Congenital Chloride Diarrhea

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

(show all 17)
idRelated DiseaseScoreTop Affiliating Genes
1adenoma29.9REN, SLC26A3, SLC26A4
2diarrhea11.1
3hepatitis10.4
4celiac disease10.2
5cystic fibrosis10.2
6autosomal recessive disease10.2
7intestinal obstruction10.2
8kidney disease10.2
9meconium ileus10.2
10ileus10.2
11diarrhea 5, with tufting enteropathy, congenital10.1
12liver disease10.1
13congenital lactase deficiency10.1
14inflammatory bowel disease10.0IL10, SLC26A3
15diastrophic dysplasia9.8SLC26A2, SLC26A3, SLC26A4
16pendred syndrome9.8SLC26A2, SLC26A3, SLC26A4
17pre-eclampsia9.8REN, IL10

Graphical network of diseases related to Congenital Chloride Diarrhea:



Diseases related to congenital chloride diarrhea

Symptoms for Congenital Chloride Diarrhea

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Symptoms by clinical synopsis from OMIM:

214700

Clinical features from OMIM:

214700

HPO human phenotypes related to Congenital Chloride Diarrhea:

(show all 15)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 hyperactive renin-angiotensin system HP:0000841
3 hyperaldosteronism HP:0000859
4 failure to thrive HP:0001508
5 growth delay HP:0001510
6 polyhydramnios HP:0001561
7 premature birth HP:0001622
8 abnormality of the cardiovascular system HP:0001626
9 dehydration HP:0001944
10 diarrhea HP:0002014
11 hypokalemia HP:0002900
12 hyponatremia HP:0002902
13 hypochloremia HP:0003113
14 abdominal distention HP:0003270
15 metabolic alkalosis HP:0200114

Drugs & Therapeutics for Congenital Chloride Diarrhea

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Drug clinical trials:

Search ClinicalTrials for Congenital Chloride Diarrhea

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 Diarrhea20 SLC26A3

Anatomical Context for Congenital Chloride Diarrhea

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MalaCards organs/tissues related to Congenital Chloride Diarrhea:

32
Colon, Kidney, Testes

Animal Models for Congenital Chloride Diarrhea or affiliated genes

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MGI Mouse Phenotypes related to Congenital Chloride Diarrhea:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.8SLC26A4, SLC26A3, IL10
2MP:00053908.5IL10, SLC26A2, SLC26A4
3MP:00053898.5SLC26A4, IL10, REN
4MP:00053788.3SLC26A3, SLC26A2, IL10, REN
5MP:00107688.2REN, IL10, SLC26A2, SLC26A3
6MP:00053768.1REN, IL10, SLC26A3, SLC26A4

Publications for Congenital Chloride Diarrhea

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Articles related to Congenital Chloride Diarrhea:

(show top 50)    (show all 63)
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 misdiagnosed as pseudo-Bartter syndrome. (24381629)
2013
6
Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics. (23274434)
2013
7
Type IV neonatal Bartter syndrome complicated with congenital chloride diarrhea. (23569535)
2012
8
Antenatal differential diagnosis of congenital chloride diarrhea: a case report. (22568939)
2012
9
Prenatal differential diagnosis of congenital chloride diarrhea: the importance of a dilated fluid-filled rectum. (21283961)
2011
10
Proton pump inhibitor treatment for congenital chloride diarrhea. (21127979)
2011
11
Compound heterozygous mutations in the SLC26A3 gene in 2 Spanish siblings with congenital chloride diarrhea. (21150650)
2011
12
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
13
A Turkish case of congenital chloride diarrhea with SLC26A3 gene (c.2025_2026insATC) mutation: diagnostic pitfalls. (21332001)
2010
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
Celiac disease in a girl with congenital chloride diarrhea: coincidence of 2 diarrheal disorders. (18852645)
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
Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea. (11524734)
2001
25
Congenital chloride diarrhea from the west coast of the Kingdom of Saudi Arabia. (11533786)
2000
26
Japanese siblings with congenital chloride diarrhea. (10881594)
2000
27
The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells. (10857479)
2000
28
Genetic Disorders of Membrane Transport III. Congenital chloride diarrhea. (9886972)
1999
29
Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea. (9886994)
1999
30
Intestinal inflammation reduces expression of DRA, a transporter responsible for congenital chloride diarrhea. (9843783)
1998
31
Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene. (9554749)
1998
32
Genomic structure of the human congenital chloride diarrhea (CLD) gene. (9729124)
1998
33
Congenital chloride diarrhea in a Turkish boy. (8701491)
1996
34
Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31. (8963897)
1996
35
Congenital chloride diarrhea: A single center experience with ten patients. (17590642)
1995
36
Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea. (7942853)
1994
37
A girl having congenital chloride diarrhea treated with spironolactone for seven years. (7942007)
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
Congenital chloride diarrhea. (8132269)
1993
40
Effects of indomethacin in congenital chloride diarrhea. (1619538)
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
Chloride-resistant metabolic alkalosis in an adult with congenital chloride diarrhea. (3177410)
1988
44
Dental involvement in congenital chloride diarrhea. (6440962)
1984
45
Congenital chloride diarrhea. (7049691)
1982
46
Congenital chloride diarrhea: possibility for prenatal diagnosis. (7211368)
1980
47
Electrolyte economy and its hormonal regulation in congenital chloride diarrhea. (643381)
1978
48
The renal lesion in congenital chloride diarrhea. (909012)
1977
49
Colonic electrolyte transport in health and in congenital chloride diarrhea. (1150872)
1975
50
Congenital chloride diarrhea. (4821323)
1974

Variations for Congenital Chloride Diarrhea

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UniProtKB/Swiss-Prot genetic disease variations for Congenital Chloride Diarrhea:

64 (show all 18)
id Symbol AA change Variation ID 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

Clinvar genetic disease variations for Congenital Chloride Diarrhea:

6 (show all 56)
id Gene Name 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)single nucleotide variantPathogenicrs121913030GRCh37Chr 7, 107432286: 107432286
3SLC26A3SLC26A3, 1-BP DEL, T344deletionPathogenic
4SLC26A3SLC26A3, 3.5-KB DELdeletionPathogenic
5SLC26A3NM_000111.2(SLC26A3): c.2025_2026insATC (p.Ile675_Arg676insIle)insertionPathogenicrs121913031GRCh37Chr 7, 107412535: 107412536
6SLC26A3NM_000111.2(SLC26A3): c.559G> T (p.Gly187Ter)single nucleotide variantPathogenicrs121913032GRCh37Chr 7, 107431504: 107431504
7SLC26A3SLC26A3, 13-BP DELdeletionPathogenic
8SLC26A3NM_000111.2(SLC26A3): c.1386G> A (p.Trp462Ter)single nucleotide variantPathogenicrs121913033GRCh37Chr 7, 107420134: 107420134
9SLC26A3NM_000111.2(SLC26A3): c.1028G> A (p.Cys343Tyr)single nucleotide variantLikely pathogenicrs386833444GRCh37Chr 7, 107423741: 107423741
10SLC26A3NM_000111.2(SLC26A3): c.1030_1047del18insGATGCC (p.Phe344_Val349delinsAspAla)indelLikely pathogenicrs386833445GRCh37Chr 7, 107423722: 107423739
11SLC26A3NM_000111.2(SLC26A3): c.1136G> C (p.Gly379Ala)single nucleotide variantLikely pathogenicrs386833446GRCh37Chr 7, 107423522: 107423522
12SLC26A3NM_000111.2(SLC26A3): c.1148_1149delTA (p.Ile383Serfs)deletionLikely pathogenicrs386833447GRCh37Chr 7, 107423509: 107423510
13SLC26A3NM_000111.2(SLC26A3): c.1306C> T (p.Gln436Ter)single nucleotide variantLikely pathogenicrs386833448GRCh37Chr 7, 107423247: 107423247
14SLC26A3NM_000111.2(SLC26A3): c.1312-1G> Asingle nucleotide variantLikely pathogenicrs386833449GRCh37Chr 7, 107420209: 107420209
15SLC26A3NM_000111.2(SLC26A3): c.1342_1343delTT (p.Leu448Lysfs)deletionLikely pathogenicrs386833450GRCh37Chr 7, 107420177: 107420178
16SLC26A3NM_000111.2(SLC26A3): c.1360C> T (p.Gln454Ter)single nucleotide variantLikely pathogenicrs386833451GRCh37Chr 7, 107420160: 107420160
17SLC26A3NM_000111.2(SLC26A3): c.1362delG (p.Gln454Hisfs)deletionLikely pathogenicrs386833452GRCh37Chr 7, 107420158: 107420158
18SLC26A3NM_000111.2(SLC26A3): c.1387C> T (p.Arg463Ter)single nucleotide variantLikely pathogenicrs386833453GRCh37Chr 7, 107420133: 107420133
19SLC26A3NM_000111.2(SLC26A3): c.1403A> T (p.Asp468Val)single nucleotide variantLikely pathogenicrs386833454GRCh37Chr 7, 107420117: 107420117
20SLC26A3NM_000111.2(SLC26A3): c.1408-1G> Asingle nucleotide variantLikely pathogenicrs386833455GRCh37Chr 7, 107418727: 107418727
21SLC26A3NM_000111.2(SLC26A3): c.145_157delAAGGCCAAGAGAA (p.Lys49Leufs)deletionLikely pathogenicrs386833456GRCh37Chr 7, 107434301: 107434313
22SLC26A3NM_000111.2(SLC26A3): c.1487T> G (p.Leu496Arg)single nucleotide variantLikely pathogenicrs386833457GRCh37Chr 7, 107418647: 107418647
23SLC26A3NM_000111.2(SLC26A3): c.1515-2delAdeletionLikely pathogenicrs386833458GRCh37Chr 7, 107417153: 107417153
24SLC26A3NM_000111.2(SLC26A3): c.1517delC (p.Pro506Glnfs)deletionLikely pathogenicrs386833459GRCh37Chr 7, 107417149: 107417149
25SLC26A3NM_000111.2(SLC26A3): c.1526_1527delGC (p.Ser509Asnfs)deletionLikely pathogenicrs386833460GRCh37Chr 7, 107417139: 107417140
26SLC26A3NM_000111.2(SLC26A3): c.1551_1554delCAAC (p.Asn518Serfs)deletionLikely pathogenicrs386833461GRCh37Chr 7, 107417112: 107417115
27SLC26A3NM_000111.2(SLC26A3): c.1559A> G (p.Tyr520Cys)single nucleotide variantLikely pathogenicrs386833462GRCh37Chr 7, 107417107: 107417107
28SLC26A3NM_000111.2(SLC26A3): c.1563G> C (p.Lys521Asn)single nucleotide variantLikely pathogenicrs386833463GRCh37Chr 7, 107417103: 107417103
29SLC26A3NM_000111.2(SLC26A3): c.1579_1581delTAT (p.Tyr527del)deletionLikely pathogenicrs386833464GRCh37Chr 7, 107417085: 107417087
30SLC26A3NM_000111.2(SLC26A3): c.1609delA (p.Ile537Phefs)deletionLikely pathogenicrs386833465GRCh37Chr 7, 107416965: 107416965
31SLC26A3NM_000111.2(SLC26A3): c.1624_1626delTCTinsC (p.Ser542Profs)indelLikely pathogenicrs386833466GRCh37Chr 7, 107416948: 107416950
32SLC26A3NM_000111.2(SLC26A3): c.1631T> A (p.Ile544Asn)single nucleotide variantLikely pathogenicrs386833467GRCh37Chr 7, 107416943: 107416943
33SLC26A3NM_000111.2(SLC26A3): c.177dupC (p.Ile60Hisfs)duplicationLikely pathogenicrs386833468GRCh37Chr 7, 107434280: 107434281
34SLC26A3NM_000111.2(SLC26A3): c.1990delG (p.Val664Terfs)deletionLikely pathogenicrs386833469GRCh37Chr 7, 107414382: 107414382
35SLC26A3NM_000111.2(SLC26A3): c.2024_2026dupTCA (p.Ile675_Arg676insIle)duplicationLikely pathogenicrs386833470GRCh37Chr 7, 107412535: 107412537
36SLC26A3NM_000111.2(SLC26A3): c.2063-1G> Tsingle nucleotide variantLikely pathogenicrs386833471GRCh37Chr 7, 107408354: 107408354
37SLC26A3NM_000111.2(SLC26A3)indelLikely pathogenicrs386833472GRCh37Chr 7, 107408311: 107408312
38SLC26A3NM_000111.2(SLC26A3): c.2116delA (p.Ser706Alafs)deletionLikely pathogenicrs386833473GRCh37Chr 7, 107408300: 107408300
39SLC26A3NM_000111.2(SLC26A3): c.2132T> G (p.Leu711Ter)single nucleotide variantLikely pathogenicrs386833474GRCh37Chr 7, 107408284: 107408284
40SLC26A3NM_000111.2(SLC26A3): c.2205+3A> Gsingle nucleotide variantLikely pathogenicrs386833475GRCh37Chr 7, 107408208: 107408208
41SLC26A3NM_000111.2(SLC26A3): c.269_270dupAA (p.Gly91Lysfs)duplicationLikely pathogenicrs386833476GRCh37Chr 7, 107434187: 107434188
42SLC26A3NM_000111.2(SLC26A3): c.332delT (p.Phe111Serfs)deletionLikely pathogenicrs386833477GRCh37Chr 7, 107432325: 107432325
43SLC26A3NM_000111.2(SLC26A3): c.344delT (p.Ile115Thrfs)deletionLikely pathogenicrs386833478GRCh37Chr 7, 107432313: 107432313
44SLC26A3NM_000111.2(SLC26A3): c.358G> A (p.Gly120Ser)single nucleotide variantLikely pathogenicrs386833479GRCh37Chr 7, 107432299: 107432299
45SLC26A3NM_000111.2(SLC26A3): c.386C> T (p.Pro129Leu)single nucleotide variantLikely pathogenicrs386833480GRCh37Chr 7, 107431677: 107431677
46SLC26A3NM_000111.2(SLC26A3): c.392C> G (p.Pro131Arg)single nucleotide variantLikely pathogenicrs386833481GRCh37Chr 7, 107431671: 107431671
47SLC26A3NM_000111.2(SLC26A3): c.392C> T (p.Pro131Leu)single nucleotide variantLikely pathogenicrs386833481GRCh37Chr 7, 107431671: 107431671
48SLC26A3NM_000111.2(SLC26A3): c.392delC (p.Pro131Argfs)deletionLikely pathogenicrs386833482GRCh37Chr 7, 107431671: 107431671
49SLC26A3NM_000111.2(SLC26A3): c.408G> A (p.Met136Ile)single nucleotide variantLikely pathogenicrs386833483GRCh37Chr 7, 107431655: 107431655
50SLC26A3NM_000111.2(SLC26A3): c.525G> C (p.Arg175Ser)single nucleotide variantLikely pathogenicrs386833484GRCh37Chr 7, 107431538: 107431538
51SLC26A3NM_000111.2(SLC26A3): c.571-1G> Tsingle nucleotide variantLikely pathogenicrs386833485GRCh37Chr 7, 107430134: 107430134
52SLC26A3NM_000111.2(SLC26A3): c.571-2A> Gsingle nucleotide variantLikely pathogenicrs386833486GRCh37Chr 7, 107430135: 107430135
53SLC26A3NM_000111.2(SLC26A3): c.610T> G (p.Tyr204Asp)single nucleotide variantLikely pathogenicrs386833487GRCh37Chr 7, 107430094: 107430094
54SLC26A3NM_000111.2(SLC26A3): c.616T> C (p.Ser206Pro)single nucleotide variantLikely pathogenicrs386833488GRCh37Chr 7, 107430088: 107430088
55SLC26A3NM_000111.2(SLC26A3): c.659A> C (p.His220Pro)single nucleotide variantLikely pathogenicrs386833489GRCh37Chr 7, 107430045: 107430045
56SLC26A3NM_000111.2(SLC26A3): c.915C> A (p.Tyr305Ter)single nucleotide variantLikely pathogenicrs386833490GRCh37Chr 7, 107427328: 107427328

Expression for genes affiliated with Congenital Chloride Diarrhea

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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

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Compounds for genes affiliated with Congenital Chloride Diarrhea

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

(show all 18)
idCompoundScoreTop Affiliating Genes
1oxalate449.6SLC26A2, SLC26A4
2iodide44 2410.6SLC26A4, SLC26A2
3formate449.6SLC26A2, SLC26A4
4chlorine44 2410.5SLC26A4, SLC26A3
5enalapril44 50 1111.4IL10, REN
6digoxin44 61 50 24 1113.3IL10, REN
7corticosterone44 61 2411.3IL10, REN
8bicarbonate449.2SLC26A2, SLC26A3, SLC26A4
9sulfate44 2410.2SLC26A4, SLC26A3, SLC26A2
10hydrocortisone44 2 61 1112.1IL10, REN
11calcitriol44 61 24 1112.1IL10, REN
12prostacyclin449.0REN, IL10
13nacl448.9SLC26A4, SLC26A3, REN
14tacrolimus44 50 1110.8IL10, REN
15thyroxine44 249.8REN, IL10, SLC26A4
16dexamethasone44 50 28 1111.8SLC26A2, IL10, REN
17nitric oxide44 24 1110.6REN, IL10, SLC26A4
18chloride448.4SLC26A4, SLC26A3, SLC26A2, REN

GO Terms for genes affiliated with Congenital Chloride Diarrhea

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Cellular components related to Congenital Chloride Diarrhea according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1apical plasma membraneGO:0163249.4SLC26A4, SLC26A3
2brush border membraneGO:0315269.3SLC26A4, SLC26A3
3plasma membraneGO:0058867.8SLC26A4, SLC26A3, SLC26A2, REN

Biological processes related to Congenital Chloride Diarrhea according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sulfate transmembrane transportGO:19023589.4SLC26A2, SLC26A4
2sulfate transportGO:0082729.3SLC26A4, SLC26A2
3chloride transmembrane transportGO:19024769.1SLC26A4, SLC26A3
4transmembrane transportGO:0550858.9SLC26A2, SLC26A4, SLC26A3
5ion transportGO:0068118.8SLC26A4, SLC26A3, SLC26A2

Molecular functions related to Congenital Chloride Diarrhea according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sulfate transmembrane transporter activityGO:0151169.3SLC26A4, SLC26A2
2chloride transmembrane transporter activityGO:0151089.1SLC26A4, SLC26A3
3secondary active sulfate transmembrane transporter activityGO:0082718.8SLC26A4, SLC26A3, SLC26A2

Products for genes affiliated with Congenital Chloride Diarrhea

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  • Antibodies
  • Proteins
  • Lysates

Sources for Congenital Chloride Diarrhea

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet