CLD
MCID: CNG064
MIFTS: 34

Congenital Chloride Diarrhea (CLD)

Categories: Gastrointestinal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Congenital Chloride Diarrhea

MalaCards integrated aliases for Congenital Chloride Diarrhea:

Name: Congenital Chloride Diarrhea 40 20 6 70
Familial Chloride Diarrhea 40 20
Chloride Diarrhea, Congenital, Finnish Type 40
Diarrhea 1, Secretory Chloride, Congenital 20
Chloridorrhea, Congenital 20
Congenital Chloridorrhea 20
Darrow-Gamble Disease 20
Diarrhea 1 40
Diar1 20
Cld 20

Classifications:



External Ids:

UMLS 70 C0267662

Summaries for Congenital Chloride Diarrhea

GARD : 20 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 diarrhea and bartter disease, and has symptoms including diarrhea and watery diarrhea. An important gene associated with Congenital Chloride Diarrhea is SLC26A3 (Solute Carrier Family 26 Member 3). Affiliated tissues include kidney, colon and testis, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 73 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 87)
# Related Disease Score Top Affiliating Genes
1 diarrhea 30.9 SLC26A3 REN
2 bartter disease 29.8 SLC26A3 REN
3 pendred syndrome 29.8 SLC26A3 SLC26A2
4 adenoma 29.6 SLC26A3 REN
5 diastrophic dysplasia 29.6 SLC26A3 SLC26A2
6 diarrhea 1, secretory chloride, congenital 11.6
7 lipase deficiency, combined 11.4
8 diarrhea 5, with tufting enteropathy, congenital 11.1
9 lactase deficiency, congenital 11.0
10 diarrhea 2, with microvillus atrophy 10.9
11 diarrhea 6 10.9
12 diarrhea 9 10.9
13 diarrhea 10, protein-losing enteropathy type 10.9
14 diarrhea 11, malabsorptive, congenital 10.9
15 autosomal recessive disease 10.6
16 polyhydramnios 10.6
17 hypokalemia 10.5
18 intestinal obstruction 10.3
19 secretory diarrhea 10.3
20 nephrocalcinosis 10.2
21 gitelman syndrome 10.2
22 inflammatory bowel disease 10.2
23 chronic kidney disease 10.2
24 ileus 10.2
25 lung disease 10.1
26 cystic fibrosis 10.1
27 branchiootic syndrome 1 10.1
28 meconium ileus 10.1
29 renal tubular acidosis 10.1
30 bilirubin metabolic disorder 10.1
31 end stage renal disease 10.1
32 biliary atresia, extrahepatic 10.1
33 crigler-najjar syndrome, type i 10.1
34 wilson disease 10.1
35 portal hypertension 10.1
36 portal vein thrombosis 10.1
37 hepatorenal syndrome 10.1
38 hepatic coma 10.1
39 hepatic encephalopathy 10.1
40 biliary atresia 10.1
41 peritonitis 10.1
42 hepatopulmonary syndrome 10.1
43 cholangitis 10.1
44 encephalopathy 10.1
45 pulmonary arterial hypertension associated with portal hypertension 10.1
46 inherited metabolic disorder 10.0
47 hypertriglyceridemia, familial 10.0
48 fibrosis of extraocular muscles, congenital, 1 9.9
49 hirschsprung disease 1 9.9
50 volvulus of midgut 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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.32 SLC26A2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-115 9.32 SLC26A3
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-128 9.32 SLC26A3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-135 9.32 SLC26A3
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 9.32 SLC26A2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-54 9.32 SLC26A3
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.32 SLC26A3
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-81 9.32 SLC26A3
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.32 SLC26A3
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.32 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:

40
Kidney, Colon, Testis

Publications for Congenital Chloride Diarrhea

Articles related to Congenital Chloride Diarrhea:

(show top 50) (show all 162)
# Title Authors PMID Year
1
The utility of next generation sequencing in the correct diagnosis of congenital hypochloremic hypokalemic metabolic alkalosis. 61 6
31325522 2019
2
Surgical consequences in infants with delayed diagnosis of congenital chloride diarrhea. 6 61
29086717 2017
3
Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea. 6 61
28644346 2017
4
SLC26A3 gene mutations in Tunisian patients with congenital chloride diarrhea. 6 61
27525615 2016
5
Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea. 6 61
24350656 2013
6
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. 61 6
21853658 2011
7
SLC26A3 mutations in congenital chloride diarrhea. 6 61
12442266 2002
8
Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea. 6 61
11524734 2001
9
Japanese siblings with congenital chloride diarrhea. 6 61
10881594 2000
10
Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait. 61 6
9718329 1998
11
Rare mutation in the SLC26A3 transporter causes life-long diarrhoea with metabolic alkalosis. 6
25568271 2015
12
Proton pump inhibitor treatment for congenital chloride diarrhea. 20 61
21127979 2011
13
Polyhydramnios and abdominal distention in a newborn. 6
18847625 2008
14
Congenital chloride-losing diarrhea causing mutations in the STAS domain result in misfolding and mistrafficking of SLC26A3. 6
18216024 2008
15
Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. 6
8896562 1996
16
Prenatal biochemical diagnosis of two forms of congenital diarrheal disorders (congenital chloride diarrhea and congenital sodium diarrhea): A series of 12 cases. 61
33350492 2021
17
Development of Crohn's Disease in a Child With SLC26A3-related Congenital Chloride Diarrhea: Report of the First Case in East Asia and a Novel Missense Variant. 61
33063691 2021
18
NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders. 61
33567694 2021
19
Differential diagnosis of perinatal Bartter, Bartter and Gitelman syndromes. 61
33564404 2021
20
Congenital chloride diarrhea in patient with SLC26A2 mutation - analysis of the clinical phenotype and differential diagnosis. 61
33599438 2021
21
Congenital Chloride Diarrhea and Childhood Inflammatory Bowel Disease: A Multicenter Case Series. 61
33442733 2020
22
Congenital chloride diarrhea clinical features and management: a systematic review. 61
33173177 2020
23
Congenital chloride diarrhea in a Japanese neonate with a novel SLC26A3 mutation. 61
33124714 2020
24
Improvement of delayed growth after treatment in child with congenital chloride diarrhea. 61
32588504 2020
25
Congenital chloride diarrhea in patient with SLC26A2 mutation - analysis of the clinical phenotype and differential diagnosis. 61
33191723 2020
26
A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate. 61
32951339 2020
27
Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes. 61
32295532 2020
28
Suicide attempt using potassium tablets for congenital chloride diarrhea: A case report. 61
32368538 2020
29
Updates on bone health in children with gastrointestinal diseases. 61
32252211 2020
30
Recurrent Metabolic Alkalosis in a Cystic Fibrosis Patient: Coexistence with Congenital Chloride Diarrhea. 61
31976143 2020
31
SLC26A3 mutation in Turkish neonate and her sibling with congenital chloride diarrhea. 61
32231454 2020
32
Mucosal Abnormalities in Children With Congenital Chloride Diarrhea-An Underestimated Phenotypic Feature? 61
32850522 2020
33
Exome Sequencing in Clinical Hepatology. 61
31222768 2019
34
[Establishment of a congenital chloride diarrhea-associated SLC26A3 c.392C>G (p.P131R) polymorphism-expressing cell model and a preliminary analysis of its mechanism of action]. 61
31753097 2019
35
Novel solute carrier family 26, member 3 mutation in a prenatal recurrent case with congenital chloride diarrhea. 61
31499577 2019
36
Clinical Features, Molecular Genetics, and Long-Term Outcome in Congenital Chloride Diarrhea: A Nationwide Study in Japan. 61
31477378 2019
37
Congenital Sodium Diarrhea by mutation of the SLC9A3 gene. 61
31276831 2019
38
Case Report on a Rare Disease in Lithuania: Congenital Chloride Diarrhea. 61
30775050 2019
39
Slc26 Family of Anion Transporters in the Gastrointestinal Tract: Expression, Function, Regulation, and Role in Disease. 61
30873581 2019
40
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. 61
30760291 2019
41
Functional characterization of SLC26A3 c.392C>G (p.P131R) mutation in intestinal barrier function using CRISPR/CAS9-created cell models. 61
31114672 2019
42
Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case report. 61
30635044 2019
43
Improvement Of Congenital Chloride Diarrhea With Corticosteroids: An Incidental Finding. 61
31827341 2019
44
Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome. 61
29849040 2018
45
Tumor necrosis factor-α acts reciprocally with solute carrier family 26, member 3, (downregulated-in-adenoma) and reduces its expression, leading to intestinal inflammation. 61
29286110 2018
46
A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR. 61
29079751 2017
47
Loss of the anion exchanger DRA (Slc26a3), or PAT1 (Slc26a6), alters sulfate transport by the distal ileum and overall sulfate homeostasis. 61
28526688 2017
48
Congenital Chloride Diarrhea (CCD): A Case Report of CCD Suspected by Prenatal Ultrasonography and Magnetic Resonance Imaging (MRI). 61
28646130 2017
49
Honeycomb fetal abdomen: characteristic sign of congenital chloride diarrhea. 61
26916838 2016
50
Congenital Chloride Diarrhea - Novel Mutation in SLC26A3 Gene. 61
26637435 2016

Variations for Congenital Chloride Diarrhea

ClinVar genetic disease variations for Congenital Chloride Diarrhea:

6 (show top 50) (show all 124)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC26A3 NM_000111.2(SLC26A3):c.951_953del (p.Val318del) Deletion Pathogenic 16754 rs386833491 GRCh37: 7:107427290-107427292
GRCh38: 7:107786845-107786847
2 SLC26A3 SLC26A3, 1-BP DEL, T344 Deletion Pathogenic 16756 GRCh37:
GRCh38:
3 SLC26A3 SLC26A3, 3.5-KB DEL Deletion Pathogenic 16757 GRCh37:
GRCh38:
4 SLC26A3 SLC26A3, 13-BP DEL Deletion Pathogenic 16760 GRCh37:
GRCh38:
5 SLC26A3 NM_000111.2(SLC26A3):c.1386G>A (p.Trp462Ter) SNV Pathogenic 16761 rs121913033 GRCh37: 7:107420134-107420134
GRCh38: 7:107779689-107779689
6 SLC26A3 NM_000111.3(SLC26A3):c.1696C>T (p.Arg566Ter) SNV Pathogenic 802343 rs1018933248 GRCh37: 7:107415299-107415299
GRCh38: 7:107774854-107774854
7 SLC26A3 NM_000111.2(SLC26A3):c.2024_2026dup (p.Ile675dup) Duplication Pathogenic 55988 rs121913031 GRCh37: 7:107412534-107412535
GRCh38: 7:107772089-107772090
8 SLC26A3 NM_000111.2(SLC26A3):c.371A>T (p.His124Leu) SNV Pathogenic 16755 rs121913030 GRCh37: 7:107432286-107432286
GRCh38: 7:107791841-107791841
9 SLC26A3 NM_000111.2(SLC26A3):c.559G>T (p.Gly187Ter) SNV Pathogenic 16759 rs121913032 GRCh37: 7:107431504-107431504
GRCh38: 7:107791059-107791059
10 SLC26A3 NM_000111.3(SLC26A3):c.1101T>G (p.Tyr367Ter) SNV Pathogenic 1032890 GRCh37: 7:107423668-107423668
GRCh38: 7:107783223-107783223
11 SLC26A3 NM_000111.3(SLC26A3):c.*1_*3del (p.Ter765=) Deletion Pathogenic 1032891 GRCh37: 7:107406297-107406299
GRCh38: 7:107765852-107765854
12 SLC26A3 NM_000111.3(SLC26A3):c.1652del (p.Phe551fs) Deletion Likely pathogenic 804405 rs1584403556 GRCh37: 7:107416922-107416922
GRCh38: 7:107776477-107776477
13 SLC26A3 NM_000111.2(SLC26A3):c.1579_1581delTAT Microsatellite Likely pathogenic 55982 rs386833464 GRCh37: 7:107417085-107417087
GRCh38: 7:107776640-107776642
14 SLC26A3 NM_000111.2(SLC26A3):c.571-2A>G SNV Likely pathogenic 56005 rs386833486 GRCh37: 7:107430135-107430135
GRCh38: 7:107789690-107789690
15 SLC26A3 NM_000111.3(SLC26A3):c.269_270dup Duplication Likely pathogenic 55994 rs386833476 GRCh37: 7:107434187-107434188
GRCh38: 7:107793742-107793743
16 SLC26A3 NM_000111.2(SLC26A3):c.386C>T (p.Pro129Leu) SNV Likely pathogenic 55998 rs386833480 GRCh37: 7:107431677-107431677
GRCh38: 7:107791232-107791232
17 SLC26A3 NM_000111.2(SLC26A3):c.1624_1626delinsC (p.Ser542fs) Indel Likely pathogenic 55984 rs386833466 GRCh37: 7:107416948-107416950
GRCh38: 7:107776503-107776505
18 SLC26A3 NM_000111.2(SLC26A3):c.177dup (p.Ile60fs) Duplication Likely pathogenic 55986 rs386833468 GRCh37: 7:107434280-107434281
GRCh38: 7:107793835-107793836
19 SLC26A3 NM_000111.2(SLC26A3):c.1028G>A (p.Cys343Tyr) SNV Likely pathogenic 55962 rs386833444 GRCh37: 7:107423741-107423741
GRCh38: 7:107783296-107783296
20 SLC26A3 NM_000111.3(SLC26A3):c.1030_1047delinsGATGCC (p.Phe344_Val349delinsAspAla) Indel Likely pathogenic 55963 rs386833445 GRCh37: 7:107423722-107423739
GRCh38: 7:107783277-107783294
21 SLC26A3 NM_000111.2(SLC26A3):c.1136G>C (p.Gly379Ala) SNV Likely pathogenic 55964 rs386833446 GRCh37: 7:107423522-107423522
GRCh38: 7:107783077-107783077
22 SLC26A3 NM_000111.2(SLC26A3):c.1148_1149del (p.Ile383fs) Deletion Likely pathogenic 55965 rs386833447 GRCh37: 7:107423509-107423510
GRCh38: 7:107783064-107783065
23 SLC26A3 NM_000111.2(SLC26A3):c.1306C>T (p.Gln436Ter) SNV Likely pathogenic 55966 rs386833448 GRCh37: 7:107423247-107423247
GRCh38: 7:107782802-107782802
24 SLC26A3 NM_000111.2(SLC26A3):c.1312-1G>A SNV Likely pathogenic 55967 rs386833449 GRCh37: 7:107420209-107420209
GRCh38: 7:107779764-107779764
25 SLC26A3 NM_000111.2(SLC26A3):c.1342_1343del (p.Leu448fs) Deletion Likely pathogenic 55968 rs386833450 GRCh37: 7:107420177-107420178
GRCh38: 7:107779732-107779733
26 SLC26A3 NM_000111.2(SLC26A3):c.1360C>T (p.Gln454Ter) SNV Likely pathogenic 55969 rs386833451 GRCh37: 7:107420160-107420160
GRCh38: 7:107779715-107779715
27 SLC26A3 NM_000111.2(SLC26A3):c.1362del (p.Gln454fs) Deletion Likely pathogenic 55970 rs386833452 GRCh37: 7:107420158-107420158
GRCh38: 7:107779713-107779713
28 SLC26A3 NM_000111.2(SLC26A3):c.1387C>T (p.Arg463Ter) SNV Likely pathogenic 55971 rs386833453 GRCh37: 7:107420133-107420133
GRCh38: 7:107779688-107779688
29 SLC26A3 NM_000111.2(SLC26A3):c.1403A>T (p.Asp468Val) SNV Likely pathogenic 55972 rs386833454 GRCh37: 7:107420117-107420117
GRCh38: 7:107779672-107779672
30 SLC26A3 NM_000111.2(SLC26A3):c.1408-1G>A SNV Likely pathogenic 55973 rs386833455 GRCh37: 7:107418727-107418727
GRCh38: 7:107778282-107778282
31 SLC26A3 NM_000111.2(SLC26A3):c.145_157del (p.Lys49fs) Deletion Likely pathogenic 55974 rs386833456 GRCh37: 7:107434301-107434313
GRCh38: 7:107793856-107793868
32 SLC26A3 NM_000111.2(SLC26A3):c.1487T>G (p.Leu496Arg) SNV Likely pathogenic 55975 rs386833457 GRCh37: 7:107418647-107418647
GRCh38: 7:107778202-107778202
33 SLC26A3 NM_000111.2(SLC26A3):c.1515-2del Deletion Likely pathogenic 55976 rs386833458 GRCh37: 7:107417153-107417153
GRCh38: 7:107776708-107776708
34 SLC26A3 NM_000111.2(SLC26A3):c.1517del (p.Pro506fs) Deletion Likely pathogenic 55977 rs386833459 GRCh37: 7:107417149-107417149
GRCh38: 7:107776704-107776704
35 SLC26A3 NM_000111.2(SLC26A3):c.1526_1527del (p.Ser509fs) Deletion Likely pathogenic 55978 rs386833460 GRCh37: 7:107417139-107417140
GRCh38: 7:107776694-107776695
36 SLC26A3 NM_000111.2(SLC26A3):c.1551_1554del (p.Asn518fs) Deletion Likely pathogenic 55979 rs386833461 GRCh37: 7:107417112-107417115
GRCh38: 7:107776667-107776670
37 SLC26A3 NM_000111.2(SLC26A3):c.1559A>G (p.Tyr520Cys) SNV Likely pathogenic 55980 rs386833462 GRCh37: 7:107417107-107417107
GRCh38: 7:107776662-107776662
38 SLC26A3 NM_000111.2(SLC26A3):c.1563G>C (p.Lys521Asn) SNV Likely pathogenic 55981 rs386833463 GRCh37: 7:107417103-107417103
GRCh38: 7:107776658-107776658
39 SLC26A3 NM_000111.2(SLC26A3):c.1609del (p.Ile537fs) Deletion Likely pathogenic 55983 rs386833465 GRCh37: 7:107416965-107416965
GRCh38: 7:107776520-107776520
40 SLC26A3 NM_000111.2(SLC26A3):c.1631T>A (p.Ile544Asn) SNV Likely pathogenic 55985 rs386833467 GRCh37: 7:107416943-107416943
GRCh38: 7:107776498-107776498
41 SLC26A3 NM_000111.2(SLC26A3):c.1990del (p.Ser663_Val664insTer) Deletion Likely pathogenic 55987 rs386833469 GRCh37: 7:107414382-107414382
GRCh38: 7:107773937-107773937
42 SLC26A3 NM_000111.2(SLC26A3):c.2063-1G>T SNV Likely pathogenic 55989 rs386833471 GRCh37: 7:107408354-107408354
GRCh38: 7:107767909-107767909
43 SLC26A3 NM_000111.2(SLC26A3):c.2104_2105delinsACCGGTTTTGAAGTGAAAATTCAAAATTT (p.Gly702delinsThrGlyPheGluValLysIleGlnAsnPhe) Indel Likely pathogenic 55990 rs386833472 GRCh37: 7:107408311-107408312
GRCh38: 7:107767866-107767867
44 SLC26A3 NM_000111.2(SLC26A3):c.2116del (p.Ser706fs) Deletion Likely pathogenic 55991 rs386833473 GRCh37: 7:107408300-107408300
GRCh38: 7:107767855-107767855
45 SLC26A3 NM_000111.2(SLC26A3):c.2132T>G (p.Leu711Ter) SNV Likely pathogenic 55992 rs386833474 GRCh37: 7:107408284-107408284
GRCh38: 7:107767839-107767839
46 SLC26A3 NM_000111.2(SLC26A3):c.2205+3A>G SNV Likely pathogenic 55993 rs386833475 GRCh37: 7:107408208-107408208
GRCh38: 7:107767763-107767763
47 SLC26A3 NM_000111.2(SLC26A3):c.332del (p.Phe111fs) Deletion Likely pathogenic 55995 rs386833477 GRCh37: 7:107432325-107432325
GRCh38: 7:107791880-107791880
48 SLC26A3 NM_000111.2(SLC26A3):c.344del (p.Ile115fs) Deletion Likely pathogenic 55996 rs386833478 GRCh37: 7:107432313-107432313
GRCh38: 7:107791868-107791868
49 SLC26A3 NM_000111.2(SLC26A3):c.358G>A (p.Gly120Ser) SNV Likely pathogenic 55997 rs386833479 GRCh37: 7:107432299-107432299
GRCh38: 7:107791854-107791854
50 SLC26A3 NM_000111.2(SLC26A3):c.392C>T (p.Pro131Leu) SNV Likely pathogenic 56000 rs386833481 GRCh37: 7:107431671-107431671
GRCh38: 7:107791226-107791226

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 transmembrane transport GO:1902358 9.16 SLC26A3 SLC26A2
4 sulfate transport GO:0008272 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 chloride transmembrane transporter activity GO:0015108 9.32 SLC26A3 SLC26A2
3 bicarbonate transmembrane transporter activity GO:0015106 9.26 SLC26A3 SLC26A2
4 sulfate transmembrane transporter activity GO:0015116 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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