MCID: DRR008
MIFTS: 49

Diarrhea 1, Secretory Chloride, Congenital

Categories: Genetic diseases, Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Diarrhea 1, Secretory Chloride, Congenital

MalaCards integrated aliases for Diarrhea 1, Secretory Chloride, Congenital:

Name: Diarrhea 1, Secretory Chloride, Congenital 57 75
Congenital Chloride Diarrhea 59 44 73
Chloride Diarrhea, Congenital, Finnish Type 57 13
Congenital Chloride Diarrhea Finnish Type 12 75
Congenital Secretory Chloride Diarrhea 1 12 15
Diar1 57 75
Diarrhea, Type 1, Chloride, Secretory, Congenital 40
Diarrhea 1 Secretory Chloride Congenital 75
Chloridorrhea, Congenital 57
Congenital Chloridorrhea 12
Chloridorrhea Congenital 75
Diarrhea, Infantile 44
Cld 75

Characteristics:

Orphanet epidemiological data:

59
congenital chloride diarrhea
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in first weeks to months of life
chronic disorder
electrolyte imbalances can mimic renal bartter syndrome


HPO:

32
diarrhea 1, secretory chloride, congenital:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 214700
Disease Ontology 12 DOID:0060296
SNOMED-CT 68 24412005
Orphanet 59 ORPHA53689
MESH via Orphanet 45 C536210
UMLS via Orphanet 74 C0267662
ICD10 via Orphanet 34 P78.3
MedGen 42 C0267662
UMLS 73 C0267662

Summaries for Diarrhea 1, Secretory Chloride, Congenital

OMIM : 57 Congenital secretory chloride diarrhea is an autosomal recessive form of severe chronic diarrhea characterized by excretion of large amounts of watery stool containing high levels of chloride, resulting in dehydration, hypokalemia, and metabolic alkalosis. The electrolyte disorder resembles the renal disorder Bartter syndrome (see 607364), except that chloride diarrhea is not associated with calcium level abnormalities (summary by Choi et al., 2009). (214700)

MalaCards based summary : Diarrhea 1, Secretory Chloride, Congenital, also known as congenital chloride diarrhea, is related to congenital chloride diarrhea and lipase deficiency, combined, and has symptoms including diarrhea and watery diarrhea. An important gene associated with Diarrhea 1, Secretory Chloride, Congenital is SLC26A3 (Solute Carrier Family 26 Member 3), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Mineral absorption. Affiliated tissues include colon, testes and kidney, and related phenotypes are hyperactive renin-angiotensin system and hyperaldosteronism

UniProtKB/Swiss-Prot : 75 Diarrhea 1, secretory chloride, congenital: A disease characterized by voluminous watery stools containing an excess of chloride. The children with this disease are often premature.

Disease Ontology : 12 A secretory diarrhea that has material basis in mutation in the SLC26A3 gene.

Related Diseases for Diarrhea 1, Secretory Chloride, Congenital

Diseases related to Diarrhea 1, Secretory Chloride, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 congenital chloride diarrhea 11.4
2 lipase deficiency, combined 11.3
3 diarrhea 5, with tufting enteropathy, congenital 10.9
4 diarrhea 6 10.9
5 inflammatory diarrhea 10.6 SLC26A3 SLC9A3
6 deafness, autosomal recessive 6 10.5 SLC26A3 SLC26A6
7 diarrhea 2, with microvillus atrophy 10.5 SLC26A3 SLC9A3
8 secretory diarrhea 10.5 SLC26A3 SLC9A3
9 osmotic diarrhea 10.5 SLC26A3 SLC9A3
10 renal tubular acidosis 10.2 SLC26A6 SLC9A3
11 fungal esophagitis 10.2 ATP12A ATP4A
12 bladder calculus 10.2 ATP12A ATP4A
13 gastrointestinal neuroendocrine benign tumor 10.2 ATP12A ATP4A
14 neonatal candidiasis 10.2 ATP12A ATP4A
15 photoallergic dermatitis 10.2 ATP12A ATP4A
16 squamous papillomatosis 10.2 ATP12A ATP4A
17 acute laryngitis 10.2 ATP12A ATP4A
18 gastroduodenal crohn's disease 10.2 ATP12A ATP4A
19 gastric neuroendocrine neoplasm 10.1 ATP12A ATP4A
20 toxic megacolon 10.1 ATP12A ATP4A
21 aspiration pneumonitis 10.1 ATP12A ATP4A
22 postsurgical hypothyroidism 10.1 ATP12A ATP4A
23 gastric antral vascular ectasia 10.1 ATP12A ATP4A
24 esophageal candidiasis 10.1 ATP12A ATP4A
25 duodenitis 10.1 ATP12A ATP4A
26 rumination disorder 10.1 ATP12A ATP4A
27 bile reflux 10.1 ATP12A ATP4A
28 granulomatous gastritis 10.1 ATP12A ATP4A
29 active peptic ulcer disease 10.1 ATP12A ATP4A
30 laryngeal disease 10.1 ATP12A ATP4A
31 ischemic neuropathy 10.1 ATP12A ATP4A
32 capillary disease 10.1 ATP12A ATP4A
33 peptic esophagitis 10.1 ATP12A ATP4A
34 duodenal disease 10.1 ATP12A ATP4A
35 dyskinesia of esophagus 10.1 ATP12A ATP4A
36 hernia, hiatus 10.1 ATP12A ATP4A
37 congenital disorder of deglycosylation 10.1 ATP12A ATP4A
38 anismus 10.1 ATP12A ATP4A
39 esophageal atresia/tracheoesophageal fistula 10.1 ATP12A ATP4A
40 laryngitis 10.1 ATP12A ATP4A
41 laryngeal tuberculosis 10.1 ATP12A ATP4A
42 lymphocytic colitis 10.1 ATP12A ATP4A
43 clostridium difficile colitis 10.1 ATP12A ATP4A
44 lower urinary tract calculus 10.1 ATP12A ATP4A
45 aspiration pneumonia 10.1 ATP12A ATP4A
46 chronic laryngitis 10.1 ATP12A ATP4A
47 chronic intestinal vascular insufficiency 10.1 ATP12A ATP4A
48 eosinophilic gastritis 10.1 ATP12A ATP4A
49 polyposis, skin pigmentation, alopecia, and fingernail changes 10.1 ATP12A ATP4A
50 esophageal varix 10.1 ATP12A ATP4A

Graphical network of the top 20 diseases related to Diarrhea 1, Secretory Chloride, Congenital:



Diseases related to Diarrhea 1, Secretory Chloride, Congenital

Symptoms & Phenotypes for Diarrhea 1, Secretory Chloride, Congenital

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive
poor growth

Laboratory Abnormalities:
hypokalemia
hyponatremia
increased aldosterone
increased plasma renin activity
hypochloremia
more
Abdomen External Features:
abdominal distention

Cardiovascular Vascular:
hypotension due to volume depletion

Genitourinary Kidneys:
juxtaglomerular hyperplasia due to activation of the renin-aldosterone axis

Metabolic Features:
dehydration
metabolic alkalosis

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Prenatal Manifestations Delivery:
premature birth

Abdomen Gastrointestinal:
diarrhea, watery
diarrhea contains high chloride levels


Clinical features from OMIM:

214700

Human phenotypes related to Diarrhea 1, Secretory Chloride, Congenital:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hyperactive renin-angiotensin system 32 HP:0000841
2 hyperaldosteronism 32 HP:0000859
3 growth abnormality 32 HP:0001507
4 failure to thrive 32 HP:0001508
5 growth delay 32 HP:0001510
6 polyhydramnios 32 HP:0001561
7 premature birth 32 HP:0001622
8 abnormality of the cardiovascular system 32 HP:0001626
9 dehydration 32 HP:0001944
10 alkalosis 32 HP:0001948
11 diarrhea 32 HP:0002014
12 hypokalemia 32 HP:0002900
13 hyponatremia 32 HP:0002902
14 hypochloremia 32 HP:0003113
15 abdominal distention 32 HP:0003270
16 metabolic alkalosis 32 HP:0200114

UMLS symptoms related to Diarrhea 1, Secretory Chloride, Congenital:


diarrhea, watery diarrhea

MGI Mouse Phenotypes related to Diarrhea 1, Secretory Chloride, Congenital:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.7 ATP12A ATP4A IL10 SLC26A3 SLC26A6 SLC9A2
2 endocrine/exocrine gland MP:0005379 9.5 ATP4A IL10 SLC26A3 SLC26A6 SLC9A2 SLC9A3
3 homeostasis/metabolism MP:0005376 9.23 ATP4A IL10 SLC26A3 SLC26A6 SLC9A2 SLC9A3

Drugs & Therapeutics for Diarrhea 1, Secretory Chloride, Congenital

Search Clinical Trials , NIH Clinical Center for Diarrhea 1, Secretory Chloride, Congenital

Cochrane evidence based reviews: diarrhea, infantile

Genetic Tests for Diarrhea 1, Secretory Chloride, Congenital

Anatomical Context for Diarrhea 1, Secretory Chloride, Congenital

MalaCards organs/tissues related to Diarrhea 1, Secretory Chloride, Congenital:

41
Colon, Testes, Kidney

Publications for Diarrhea 1, Secretory Chloride, Congenital

Articles related to Diarrhea 1, Secretory Chloride, Congenital:

(show top 50) (show all 78)
# Title Authors Year
1
Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome. ( 29849040 )
2018
2
Congenital Chloride Diarrhea (CCD): A Case Report of CCD Suspected by Prenatal Ultrasonography and Magnetic Resonance Imaging (MRI). ( 28646130 )
2017
3
Surgical consequences in infants with delayed diagnosis of congenital chloride diarrhea. ( 29086717 )
2017
4
Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea. ( 28644346 )
2017
5
Congenital Chloride Diarrhea: Diagnosis by Easy-Accessible Chloride Measurement in Feces. ( 27635272 )
2016
6
Honeycomb fetal abdomen: characteristic sign of congenital chloride diarrhea. ( 26916838 )
2016
7
SLC26A3 gene mutations in Tunisian patients with congenital chloride diarrhea. ( 27525615 )
2016
8
Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea. ( 27657883 )
2016
9
Japanese neonate with congenital chloride diarrhea caused by SLC26A3 mutation. ( 25711268 )
2015
10
Congenital Chloride Diarrhea - Novel Mutation in SLC26A3 Gene. ( 26637435 )
2015
11
Congenital Chloride Diarrhea: Accurate Prenatal Diagnosis Using Color Doppler Sonography to Show the Passage of Diarrhea. ( 26446821 )
2015
12
Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics. ( 23274434 )
2013
13
Congenital chloride diarrhea in dizygotic twins. ( 24224154 )
2013
14
[Congenital chloride diarrhea mimicking meconium ileus in newborn]. ( 24519774 )
2013
15
Congenital chloride diarrhea: a review of twelve Arabian children. ( 23776341 )
2013
16
Congenital chloride diarrhea misdiagnosed as pseudo-Bartter syndrome. ( 24381629 )
2013
17
Congenital chloride diarrhea presenting in newborn as a rare cause of meconium ileus. ( 23361499 )
2013
18
Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea. ( 24350656 )
2013
19
Prenatal diagnosis and management of congenital chloride diarrhea: A case report of 2 siblings. ( 22362191 )
2012
20
Antenatal differential diagnosis of congenital chloride diarrhea: a case report. ( 22568939 )
2012
21
Identification of SLC26A3 mutations in a Korean patient with congenital chloride diarrhea. ( 22779076 )
2012
22
Type IV neonatal Bartter syndrome complicated with congenital chloride diarrhea. ( 23569535 )
2012
23
Congenital chloride diarrhea misdiagnosed as Bartter syndrome. ( 21805424 )
2011
24
Significance of molecular testing for congenital chloride diarrhea. ( 21694535 )
2011
25
Compound heterozygous mutations in the SLC26A3 gene in 2 Spanish siblings with congenital chloride diarrhea. ( 21150650 )
2011
26
Proton pump inhibitor treatment for congenital chloride diarrhea. ( 21127979 )
2011
27
Update on SLC26A3 mutations in congenital chloride diarrhea. ( 21394828 )
2011
28
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
29
Prenatal differential diagnosis of congenital chloride diarrhea: the importance of a dilated fluid-filled rectum. ( 21283961 )
2011
30
A Turkish case of congenital chloride diarrhea with SLC26A3 gene (c.2025_2026insATC) mutation: diagnostic pitfalls. ( 21332001 )
2010
31
Successful pregnancy in a female patient with congenital chloride diarrhea (CLD) and renal impairment. ( 19967661 )
2009
32
A novel homozygous SLC26A3 nonsense mutation in a Tyrolean girl with congenital chloride diarrhea. ( 18728535 )
2008
33
The impact of sodium chloride and volume depletion in the chronic kidney disease of congenital chloride diarrhea. ( 18827800 )
2008
34
Oral butyrate in treatment of congenital chloride diarrhea. ( 18184140 )
2008
35
Celiac disease in a girl with congenital chloride diarrhea: coincidence of 2 diarrheal disorders. ( 18852645 )
2008
36
Prenatal sonographic findings and biochemical assessment of amniotic fluid in a fetus with congenital chloride diarrhea. ( 18029937 )
2007
37
Congenital chloride diarrhea: a missed diagnosis in an adult patient. ( 17531020 )
2007
38
Long-term clinical outcome in patients with congenital chloride diarrhea. ( 16641574 )
2006
39
[Congenital chloride diarrhea]. ( 16127986 )
2005
40
Renal abnormalities in congenital chloride diarrhea. ( 15138536 )
2004
41
Butyrate as an effective treatment of congenital chloride diarrhea. ( 15300594 )
2004
42
Congenital chloride diarrhea in a child. ( 12923597 )
2003
43
SLC26A3 mutations in congenital chloride diarrhea. ( 12442266 )
2002
44
Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea. ( 11524734 )
2001
45
Congenital chloride diarrhea: antenatal ultrasonographic findings in siblings. ( 11587020 )
2001
46
The congenital chloride diarrhea gene is expressed in seminal vesicle, sweat gland, inflammatory colon epithelium, and in some dysplastic colon cells. ( 10857479 )
2000
47
Japanese siblings with congenital chloride diarrhea. ( 10881594 )
2000
48
Congenital chloride diarrhea from the west coast of the Kingdom of Saudi Arabia. ( 11533786 )
2000
49
Genetic Disorders of Membrane Transport III. Congenital chloride diarrhea. ( 9886972 )
1999
50
Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea. ( 9886994 )
1999

Variations for Diarrhea 1, Secretory Chloride, Congenital

UniProtKB/Swiss-Prot genetic disease variations for Diarrhea 1, Secretory Chloride, Congenital:

75 (show all 26)
# Symbol AA change Variation ID SNP ID
1 SLC26A3 p.Gly120Ser VAR_007428 rs386833479
2 SLC26A3 p.His124Leu VAR_007429 rs121913030
3 SLC26A3 p.Pro131Arg VAR_007430 rs386833481
4 SLC26A3 p.Ser206Pro VAR_012777 rs386833488
5 SLC26A3 p.Asp468Val VAR_012778 rs386833454
6 SLC26A3 p.Pro129Leu VAR_066062 rs386833480
7 SLC26A3 p.Pro131Leu VAR_066063 rs386833481
8 SLC26A3 p.Met136Ile VAR_066064 rs386833483
9 SLC26A3 p.Tyr204Asp VAR_066065 rs386833487
10 SLC26A3 p.His220Pro VAR_066066 rs386833489
11 SLC26A3 p.Cys343Tyr VAR_066067 rs386833444
12 SLC26A3 p.Gly379Ala VAR_066069 rs386833446
13 SLC26A3 p.Ser398Phe VAR_066070 rs143839547
14 SLC26A3 p.Leu496Arg VAR_066071 rs386833457
15 SLC26A3 p.Tyr520Cys VAR_066072 rs386833462
16 SLC26A3 p.Lys521Asn VAR_066073 rs386833463
17 SLC26A3 p.Ile544Asn VAR_066074 rs386833467
18 SLC26A3 p.Asp652Asn VAR_066075 rs140426439
19 SLC26A3 p.Ser134Asn VAR_077354
20 SLC26A3 p.Arg175Ser VAR_077355 rs386833484
21 SLC26A3 p.Ser394Ile VAR_077356
22 SLC26A3 p.Ser438Pro VAR_077357 rs763669046
23 SLC26A3 p.Gln495Pro VAR_077358
24 SLC26A3 p.Cys508Arg VAR_077359
25 SLC26A3 p.Ala547Glu VAR_077360
26 SLC26A3 p.Ser654Pro VAR_077361

ClinVar genetic disease variations for Diarrhea 1, Secretory Chloride, Congenital:

6
(show top 50) (show all 173)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC26A3 NM_000111.2(SLC26A3): c.951_953delGGT (p.Val318del) deletion Pathogenic rs386833491 GRCh37 Chromosome 7, 107427290: 107427292
2 SLC26A3 NM_000111.2(SLC26A3): c.951_953delGGT (p.Val318del) deletion Pathogenic rs386833491 GRCh38 Chromosome 7, 107786845: 107786847
3 SLC26A3 NM_000111.2(SLC26A3): c.371A> T (p.His124Leu) single nucleotide variant Pathogenic rs121913030 GRCh37 Chromosome 7, 107432286: 107432286
4 SLC26A3 NM_000111.2(SLC26A3): c.371A> T (p.His124Leu) single nucleotide variant Pathogenic rs121913030 GRCh38 Chromosome 7, 107791841: 107791841
5 SLC26A3 SLC26A3, 1-BP DEL, T344 deletion Pathogenic
6 SLC26A3 SLC26A3, 3.5-KB DEL deletion Pathogenic
7 SLC26A3 NM_000111.2(SLC26A3): c.559G> T (p.Gly187Ter) single nucleotide variant Pathogenic rs121913032 GRCh37 Chromosome 7, 107431504: 107431504
8 SLC26A3 NM_000111.2(SLC26A3): c.559G> T (p.Gly187Ter) single nucleotide variant Pathogenic rs121913032 GRCh38 Chromosome 7, 107791059: 107791059
9 SLC26A3 SLC26A3, 13-BP DEL deletion Pathogenic
10 SLC26A3 NM_000111.2(SLC26A3): c.1386G> A (p.Trp462Ter) single nucleotide variant Pathogenic rs121913033 GRCh37 Chromosome 7, 107420134: 107420134
11 SLC26A3 NM_000111.2(SLC26A3): c.1386G> A (p.Trp462Ter) single nucleotide variant Pathogenic rs121913033 GRCh38 Chromosome 7, 107779689: 107779689
12 SLC26A3 NM_000111.2(SLC26A3): c.1028G> A (p.Cys343Tyr) single nucleotide variant Likely pathogenic rs386833444 GRCh37 Chromosome 7, 107423741: 107423741
13 SLC26A3 NM_000111.2(SLC26A3): c.1028G> A (p.Cys343Tyr) single nucleotide variant Likely pathogenic rs386833444 GRCh38 Chromosome 7, 107783296: 107783296
14 SLC26A3 NM_000111.2(SLC26A3): c.1030_1047del18insGATGCC (p.Phe344_Val349delinsAspAla) indel Likely pathogenic rs386833445 GRCh37 Chromosome 7, 107423722: 107423739
15 SLC26A3 NM_000111.2(SLC26A3): c.1030_1047del18insGATGCC (p.Phe344_Val349delinsAspAla) indel Likely pathogenic rs386833445 GRCh38 Chromosome 7, 107783277: 107783294
16 SLC26A3 NM_000111.2(SLC26A3): c.1136G> C (p.Gly379Ala) single nucleotide variant Likely pathogenic rs386833446 GRCh37 Chromosome 7, 107423522: 107423522
17 SLC26A3 NM_000111.2(SLC26A3): c.1136G> C (p.Gly379Ala) single nucleotide variant Likely pathogenic rs386833446 GRCh38 Chromosome 7, 107783077: 107783077
18 SLC26A3 NM_000111.2(SLC26A3): c.1148_1149delTA (p.Ile383Serfs) deletion Likely pathogenic rs386833447 GRCh37 Chromosome 7, 107423509: 107423510
19 SLC26A3 NM_000111.2(SLC26A3): c.1148_1149delTA (p.Ile383Serfs) deletion Likely pathogenic rs386833447 GRCh38 Chromosome 7, 107783064: 107783065
20 SLC26A3 NM_000111.2(SLC26A3): c.1306C> T (p.Gln436Ter) single nucleotide variant Likely pathogenic rs386833448 GRCh37 Chromosome 7, 107423247: 107423247
21 SLC26A3 NM_000111.2(SLC26A3): c.1306C> T (p.Gln436Ter) single nucleotide variant Likely pathogenic rs386833448 GRCh38 Chromosome 7, 107782802: 107782802
22 SLC26A3 NM_000111.2(SLC26A3): c.1312-1G> A single nucleotide variant Likely pathogenic rs386833449 GRCh37 Chromosome 7, 107420209: 107420209
23 SLC26A3 NM_000111.2(SLC26A3): c.1312-1G> A single nucleotide variant Likely pathogenic rs386833449 GRCh38 Chromosome 7, 107779764: 107779764
24 SLC26A3 NM_000111.2(SLC26A3): c.1342_1343delTT (p.Leu448Lysfs) deletion Likely pathogenic rs386833450 GRCh37 Chromosome 7, 107420177: 107420178
25 SLC26A3 NM_000111.2(SLC26A3): c.1342_1343delTT (p.Leu448Lysfs) deletion Likely pathogenic rs386833450 GRCh38 Chromosome 7, 107779732: 107779733
26 SLC26A3 NM_000111.2(SLC26A3): c.1360C> T (p.Gln454Ter) single nucleotide variant Likely pathogenic rs386833451 GRCh37 Chromosome 7, 107420160: 107420160
27 SLC26A3 NM_000111.2(SLC26A3): c.1360C> T (p.Gln454Ter) single nucleotide variant Likely pathogenic rs386833451 GRCh38 Chromosome 7, 107779715: 107779715
28 SLC26A3 NM_000111.2(SLC26A3): c.1362delG (p.Gln454Hisfs) deletion Likely pathogenic rs386833452 GRCh37 Chromosome 7, 107420158: 107420158
29 SLC26A3 NM_000111.2(SLC26A3): c.1362delG (p.Gln454Hisfs) deletion Likely pathogenic rs386833452 GRCh38 Chromosome 7, 107779713: 107779713
30 SLC26A3 NM_000111.2(SLC26A3): c.1387C> T (p.Arg463Ter) single nucleotide variant Likely pathogenic rs386833453 GRCh37 Chromosome 7, 107420133: 107420133
31 SLC26A3 NM_000111.2(SLC26A3): c.1387C> T (p.Arg463Ter) single nucleotide variant Likely pathogenic rs386833453 GRCh38 Chromosome 7, 107779688: 107779688
32 SLC26A3 NM_000111.2(SLC26A3): c.1403A> T (p.Asp468Val) single nucleotide variant Likely pathogenic rs386833454 GRCh37 Chromosome 7, 107420117: 107420117
33 SLC26A3 NM_000111.2(SLC26A3): c.1403A> T (p.Asp468Val) single nucleotide variant Likely pathogenic rs386833454 GRCh38 Chromosome 7, 107779672: 107779672
34 SLC26A3 NM_000111.2(SLC26A3): c.1408-1G> A single nucleotide variant Likely pathogenic rs386833455 GRCh37 Chromosome 7, 107418727: 107418727
35 SLC26A3 NM_000111.2(SLC26A3): c.1408-1G> A single nucleotide variant Likely pathogenic rs386833455 GRCh38 Chromosome 7, 107778282: 107778282
36 SLC26A3 NM_000111.2(SLC26A3): c.145_157delAAGGCCAAGAGAA (p.Lys49Leufs) deletion Likely pathogenic rs386833456 GRCh37 Chromosome 7, 107434301: 107434313
37 SLC26A3 NM_000111.2(SLC26A3): c.145_157delAAGGCCAAGAGAA (p.Lys49Leufs) deletion Likely pathogenic rs386833456 GRCh38 Chromosome 7, 107793856: 107793868
38 SLC26A3 NM_000111.2(SLC26A3): c.1487T> G (p.Leu496Arg) single nucleotide variant Likely pathogenic rs386833457 GRCh37 Chromosome 7, 107418647: 107418647
39 SLC26A3 NM_000111.2(SLC26A3): c.1487T> G (p.Leu496Arg) single nucleotide variant Likely pathogenic rs386833457 GRCh38 Chromosome 7, 107778202: 107778202
40 SLC26A3 NM_000111.2(SLC26A3): c.1515-2delA deletion Likely pathogenic rs386833458 GRCh37 Chromosome 7, 107417153: 107417153
41 SLC26A3 NM_000111.2(SLC26A3): c.1515-2delA deletion Likely pathogenic rs386833458 GRCh38 Chromosome 7, 107776708: 107776708
42 SLC26A3 NM_000111.2(SLC26A3): c.1517delC (p.Pro506Glnfs) deletion Likely pathogenic rs386833459 GRCh37 Chromosome 7, 107417149: 107417149
43 SLC26A3 NM_000111.2(SLC26A3): c.1517delC (p.Pro506Glnfs) deletion Likely pathogenic rs386833459 GRCh38 Chromosome 7, 107776704: 107776704
44 SLC26A3 NM_000111.2(SLC26A3): c.1526_1527delGC (p.Ser509Asnfs) deletion Likely pathogenic rs386833460 GRCh37 Chromosome 7, 107417139: 107417140
45 SLC26A3 NM_000111.2(SLC26A3): c.1526_1527delGC (p.Ser509Asnfs) deletion Likely pathogenic rs386833460 GRCh38 Chromosome 7, 107776694: 107776695
46 SLC26A3 NM_000111.2(SLC26A3): c.1551_1554delCAAC (p.Asn518Serfs) deletion Likely pathogenic rs386833461 GRCh37 Chromosome 7, 107417112: 107417115
47 SLC26A3 NM_000111.2(SLC26A3): c.1551_1554delCAAC (p.Asn518Serfs) deletion Likely pathogenic rs386833461 GRCh38 Chromosome 7, 107776667: 107776670
48 SLC26A3 NM_000111.2(SLC26A3): c.1559A> G (p.Tyr520Cys) single nucleotide variant Likely pathogenic rs386833462 GRCh37 Chromosome 7, 107417107: 107417107
49 SLC26A3 NM_000111.2(SLC26A3): c.1559A> G (p.Tyr520Cys) single nucleotide variant Likely pathogenic rs386833462 GRCh38 Chromosome 7, 107776662: 107776662
50 SLC26A3 NM_000111.2(SLC26A3): c.1563G> C (p.Lys521Asn) single nucleotide variant Likely pathogenic rs386833463 GRCh37 Chromosome 7, 107417103: 107417103

Expression for Diarrhea 1, Secretory Chloride, Congenital

Search GEO for disease gene expression data for Diarrhea 1, Secretory Chloride, Congenital.

Pathways for Diarrhea 1, Secretory Chloride, Congenital

GO Terms for Diarrhea 1, Secretory Chloride, Congenital

Cellular components related to Diarrhea 1, Secretory Chloride, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.86 ATP12A ATP4A MRAP SLC26A3 SLC26A6 SLC9A2
2 plasma membrane GO:0005886 9.56 ATP12A ATP4A MRAP SLC26A3 SLC26A6 SLC9A2
3 apical plasma membrane GO:0016324 9.5 SLC26A3 SLC26A6 SLC9A3
4 sperm midpiece GO:0097225 9.16 SLC26A3 SLC26A6
5 brush border membrane GO:0031526 8.8 SLC26A3 SLC26A6 SLC9A3

Biological processes related to Diarrhea 1, Secretory Chloride, Congenital according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.86 SLC26A3 SLC26A6 SLC9A2 SLC9A3
2 cellular response to cAMP GO:0071320 9.61 SLC26A3 SLC26A6
3 bicarbonate transport GO:0015701 9.6 SLC26A3 SLC26A6
4 anion transmembrane transport GO:0098656 9.59 SLC26A3 SLC26A6
5 potassium ion import GO:0010107 9.58 ATP12A ATP4A
6 anion transport GO:0006820 9.58 SLC26A3 SLC26A6
7 ATP hydrolysis coupled proton transport GO:0015991 9.57 ATP12A ATP4A
8 sodium ion transport GO:0006814 9.56 ATP12A ATP4A SLC9A2 SLC9A3
9 sperm capacitation GO:0048240 9.55 SLC26A3 SLC26A6
10 cellular sodium ion homeostasis GO:0006883 9.54 ATP12A ATP4A
11 proton transmembrane transport GO:1902600 9.54 ATP12A SLC9A2 SLC9A3
12 sulfate transport GO:0008272 9.52 SLC26A3 SLC26A6
13 sulfate transmembrane transport GO:1902358 9.51 SLC26A3 SLC26A6
14 cellular potassium ion homeostasis GO:0030007 9.49 ATP12A ATP4A
15 sodium ion import across plasma membrane GO:0098719 9.48 SLC9A2 SLC9A3
16 sodium ion export across plasma membrane GO:0036376 9.46 ATP12A ATP4A
17 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.43 ATP12A ATP4A
18 ion transport GO:0006811 9.43 ATP12A ATP4A SLC26A3 SLC26A6 SLC9A2 SLC9A3
19 oxalate transport GO:0019532 9.4 SLC26A3 SLC26A6
20 regulation of pH GO:0006885 9.33 ATP12A SLC9A2 SLC9A3
21 intracellular pH elevation GO:0051454 9.32 SLC26A3 SLC26A6
22 regulation of intracellular pH GO:0051453 8.92 SLC26A3 SLC26A6 SLC9A2 SLC9A3

Molecular functions related to Diarrhea 1, Secretory Chloride, Congenital according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 inorganic anion exchanger activity GO:0005452 9.52 SLC26A3 SLC26A6
2 anion:anion antiporter activity GO:0015301 9.51 SLC26A3 SLC26A6
3 bicarbonate transmembrane transporter activity GO:0015106 9.49 SLC26A3 SLC26A6
4 solute:proton antiporter activity GO:0015299 9.48 SLC9A2 SLC9A3
5 sulfate transmembrane transporter activity GO:0015116 9.46 SLC26A3 SLC26A6
6 sodium:proton antiporter activity GO:0015385 9.43 SLC9A2 SLC9A3
7 secondary active sulfate transmembrane transporter activity GO:0008271 9.4 SLC26A3 SLC26A6
8 sodium:potassium-exchanging ATPase activity GO:0005391 9.37 ATP12A ATP4A
9 oxalate transmembrane transporter activity GO:0019531 9.32 SLC26A3 SLC26A6
10 potassium:proton antiporter activity GO:0015386 9.26 SLC9A2 SLC9A3
11 chloride transmembrane transporter activity GO:0015108 9.16 SLC26A3 SLC26A6
12 potassium:proton exchanging ATPase activity GO:0008900 8.96 ATP12A ATP4A
13 antiporter activity GO:0015297 8.92 SLC26A3 SLC26A6 SLC9A2 SLC9A3

Sources for Diarrhea 1, Secretory Chloride, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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