DIAR1
MCID: DRR008
MIFTS: 51

Diarrhea 1, Secretory Chloride, Congenital (DIAR1)

Categories: Gastrointestinal diseases, Genetic 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 72 6
Congenital Chloride Diarrhea 58 44 70
Chloride Diarrhea, Congenital, Finnish Type 57 13
Congenital Chloride Diarrhea Finnish Type 12 72
Congenital Secretory Chloride Diarrhea 1 12 15
Diarrhea, Infantile 44 17
Diar1 57 72
Diarrhea, Type 1, Chloride, Secretory, Congenital 39
Congenital Chloride Diarrhoea Finnish Type 12
Congenital Secretory Chloride Diarrhoea 1 12
Diarrhea 1 Secretory Chloride Congenital 72
Chloridorrhea, Congenital 57
Congenital Chloridorrhea 12
Chloridorrhea Congenital 72
Cld 72

Characteristics:

Orphanet epidemiological data:

58
congenital chloride diarrhea
Inheritance: Autosomal recessive;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
diarrhea 1, secretory chloride, congenital:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

Disease Ontology 12 DOID:0060296
OMIM® 57 214700
OMIM Phenotypic Series 57 PS214700
SNOMED-CT 67 24412005
MESH via Orphanet 45 C536210
ICD10 via Orphanet 33 P78.3
UMLS via Orphanet 71 C0267662
Orphanet 58 ORPHA53689
MedGen 41 C0267662
UMLS 70 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) (Updated 05-Apr-2021)

MalaCards based summary : Diarrhea 1, Secretory Chloride, Congenital, also known as congenital chloride diarrhea, is related to diarrhea 5, with tufting enteropathy, congenital and diarrhea, 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. The drugs Antibiotics, Antitubercular and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are failure to thrive and dehydration

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

UniProtKB/Swiss-Prot : 72 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.

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 207)
# Related Disease Score Top Affiliating Genes
1 diarrhea 5, with tufting enteropathy, congenital 31.6 SLC9A3 SLC26A3
2 diarrhea 31.5 SLC9A3 SLC9A2 SLC26A3
3 diarrhea 2, with microvillus atrophy 31.5 SLC9A3 SLC26A3
4 bartter disease 30.5 SLC9A3 SLC9A2 SLC26A3
5 secretory diarrhea 30.5 SLC9A3 SLC9A2 SLC26A3
6 intestinal obstruction 30.1 SLC26A3 ATP4A ATP12A
7 diastrophic dysplasia 30.1 SLC26A6 SLC26A3
8 osmotic diarrhea 30.0 SLC9A3 SLC9A2 SLC26A3
9 volvulus of midgut 29.7 ATP4A ATP12A
10 congenital chloride diarrhea 11.5
11 lipase deficiency, combined 11.4
12 lactase deficiency, congenital 11.0
13 diarrhea 6 10.9
14 diarrhea 9 10.9
15 diarrhea 10, protein-losing enteropathy type 10.9
16 diarrhea 11, malabsorptive, congenital 10.9
17 autosomal recessive disease 10.6
18 polyhydramnios 10.6
19 hypokalemia 10.5
20 adenoma 10.3
21 nephrocalcinosis 10.2
22 intestinal impaction 10.2 SLC9A3 SLC26A3
23 gitelman syndrome 10.2
24 inflammatory bowel disease 10.2
25 chronic kidney disease 10.2
26 ileus 10.2
27 congenital diarrhea 10.2 SLC9A3 SLC26A3
28 lung disease 10.1
29 cystic fibrosis 10.1
30 pendred syndrome 10.1
31 branchiootic syndrome 1 10.1
32 meconium ileus 10.1
33 renal tubular acidosis 10.1
34 bilirubin metabolic disorder 10.1
35 end stage renal disease 10.1
36 biliary atresia, extrahepatic 10.1
37 crigler-najjar syndrome, type i 10.1
38 wilson disease 10.1
39 portal hypertension 10.1
40 portal vein thrombosis 10.1
41 hepatorenal syndrome 10.1
42 hepatic coma 10.1
43 hepatic encephalopathy 10.1
44 biliary atresia 10.1
45 peritonitis 10.1
46 hepatopulmonary syndrome 10.1
47 cholangitis 10.1
48 encephalopathy 10.1
49 pulmonary arterial hypertension associated with portal hypertension 10.1
50 inherited metabolic disorder 10.0

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

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

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 dehydration 31 HP:0001944
3 hypokalemia 31 HP:0002900
4 abnormality of the cardiovascular system 31 HP:0001626
5 growth delay 31 HP:0001510
6 polyhydramnios 31 HP:0001561
7 hyperaldosteronism 31 HP:0000859
8 hyponatremia 31 HP:0002902
9 premature birth 31 HP:0001622
10 diarrhea 31 HP:0002014
11 abdominal distention 31 HP:0003270
12 metabolic alkalosis 31 HP:0200114
13 hyperactive renin-angiotensin system 31 HP:0000841
14 hypochloremia 31 HP:0003113
15 alkalosis 31 HP:0001948
16 growth abnormality 31 HP:0001507

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive
poor growth

Laboratory Abnormalities:
hypokalemia
hyponatremia
hypochloremia
increased aldosterone
increased plasma renin activity
more
Prenatal Manifestations Delivery:
premature birth

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

Abdomen External Features:
abdominal distention

Abdomen Gastrointestinal:
diarrhea, watery
diarrhea contains high chloride levels

Clinical features from OMIM®:

214700 (Updated 05-Apr-2021)

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 9.63 ATP12A ATP4A SLC26A3 SLC26A6 SLC9A2 SLC9A3
2 endocrine/exocrine gland MP:0005379 9.43 ATP4A SLC26A3 SLC26A6 SLC9A2 SLC9A3 SYT1
3 homeostasis/metabolism MP:0005376 9.23 ATP12A ATP4A PDZD3 SLC26A3 SLC26A6 SLC9A2

Drugs & Therapeutics for Diarrhea 1, Secretory Chloride, Congenital

Drugs for Diarrhea 1, Secretory Chloride, Congenital (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibiotics, Antitubercular Phase 4
2 Anti-Bacterial Agents Phase 4
3
Loperamide Approved Phase 3 53179-11-6 3955
4
Racecadotril Investigational Phase 3 81110-73-8
5
protease inhibitors Phase 3
6 Antidiarrheals Phase 3
7 Gastrointestinal Agents Phase 3
8 HIV Protease Inhibitors Phase 3
9 Vaccines Phase 1
10
Zinc sulfate Approved, Investigational 7733-02-0
11
tannic acid Approved 1401-55-4
12
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
13
Zinc Approved, Investigational 7440-66-6 32051
14 Trace Elements
15 Nutrients
16 Dermatologic Agents
17 Micronutrients
18 Disinfectants
19 Antioxidants
20 Sunflower
21 Pharmaceutical Solutions
22 Plantain
23 Acidophilus

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Prophylaxis of Gastrointestinal Infections in Newborn and Infants With a Suspension Containing the Probiotic Escherichia Coli Strain Nissle Unknown status NCT01469273 Phase 4 Mutaflor® Suspension
2 Bacillus Clausii in Preventing Antibiotic-Associated Diarrhea Among Filipino Infant and Children: A Multi-Center, Randomized, Open-Label Controlled (Treatment vs No Treatment) Clinical Trial of Efficacy and Safety Completed NCT00447161 Phase 4 Bacillus Clausii Multi ATB Resist;Placebo
3 Efficacy and Safety of Racecadotril in the Treatment of Children Aged 3 to 60 Months Suffering From Acute Diarrhea: An Open-label Study Recruiting NCT03473561 Phase 3 Racecadotril plus ORS
4 Developing A Human Challenge Model For Evaluating Vaccines Against ST-producing Enterotoxigenic Escherichia Coli Unknown status NCT02870751 Phase 1
5 A Registry Study on Safety Surveillance of Xiyanping (a Chinese Medicine Injection) Used in China Unknown status NCT01612572
6 Descriptive Study of Pathogens Involved in Summer Diarrhea in Children Leading to Pediatric Emergency Room Visits Completed NCT04209751
7 Bihar Evaluation of Social Franchising and Telemedicine in India Completed NCT01345695
8 Efficiency and Safety of Zinc Sulphate to Reduce the Duration of Acute Diarrheal Disease Between 6 and 59 Months of Age Completed NCT04061538
9 Working With Community Health Workers to Increase Oral Rehydration Salt and Zinc Use to Treat Child Diarrhea in Uganda: A Cluster Randomized Controlled Trial Completed NCT02870491
10 IVC Index in Patient With Diarrhea and Dehydration And How It Affects Its Management Recruiting NCT04654832
11 Effectiveness of Low-cost Point-of-use Water Treatment Technologies to Prevent Stunting Among Children in Limpopo, South Africa Active, not recruiting NCT03012048
12 Clinical Trial to Compare the Efficacy and Safety of a Multiple Amino-acid Based ORS "VS002A" With the Standard WHO-ORS in the Management of Non-cholera Acute Watery Diarrhea in Infants and Young Children Not yet recruiting NCT04677296
13 A Randomized, Controlled Trial of the Effectiveness of Whole Genome Sequencing Versus Whole Exome Sequencing for Screening Patients With Congenital Diarrhea and Enteropathy (CODESeq) Not yet recruiting NCT04528303
14 Effectiveness-Implementation Research to Assess the Effect of Prompting the Supply of Zinc/LO-ORS Co-packs Through the Private Sector Coupled With Behavior Change Intervention on the Treatment of Uncomplicated Childhood Diarrhoea in Kenya Not yet recruiting NCT04335877
15 Safety, Tolerability and Preliminary Efficacy of Oral Administration of Tannins and Flavonoids in the Management of Pediatric Diarrhea Not yet recruiting NCT03598010
16 Tricho-hepato-enteric Syndrome: From Abnormal RNA Decay to Disease Clinical and Biological Characterization of Patients and Collection of Samples -THE-RNA Not yet recruiting NCT04499040
17 Randomized, Blinded, Placebo-controlled, Study of Clinical and Laboratory Effects of L. Reuteri NCIMB 30351 in Functional Disorders of Gastrointestinal Tract and Skin Symptoms of Food Allergy in Children During the First Months of Life Not yet recruiting NCT04262648
18 A Controlled Trail of Plantain Powder (Green Banana) in Infantile Diarrhea. Terminated NCT00732732
19 Effect and Tolerability of Lactobacillus Rhamnosus GG LA801 for the Preventive Nutritional Care of Nosocomial Diarrhea in Children Terminated NCT04628819

Search 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:

40
Skin

Publications for Diarrhea 1, Secretory Chloride, Congenital

Articles related to Diarrhea 1, Secretory Chloride, Congenital:

(show all 34)
# Title Authors PMID Year
1
The utility of next generation sequencing in the correct diagnosis of congenital hypochloremic hypokalemic metabolic alkalosis. 57 6
31325522 2019
2
SLC26A3 mutations in congenital chloride diarrhea. 6 57
12442266 2002
3
Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea. 57 6
11524734 2001
4
Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. 57 6
8896562 1996
5
Surgical consequences in infants with delayed diagnosis of congenital chloride diarrhea. 6
29086717 2017
6
Twelve Novel Mutations in the SLC26A3 Gene in 17 Sporadic Cases of Congenital Chloride Diarrhea. 6
28644346 2017
7
SLC26A3 gene mutations in Tunisian patients with congenital chloride diarrhea. 6
27525615 2016
8
Rare mutation in the SLC26A3 transporter causes life-long diarrhoea with metabolic alkalosis. 6
25568271 2015
9
Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea. 6
24350656 2013
10
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. 6
21853658 2011
11
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. 57
19861545 2009
12
Polyhydramnios and abdominal distention in a newborn. 6
18847625 2008
13
Congenital chloride-losing diarrhea causing mutations in the STAS domain result in misfolding and mistrafficking of SLC26A3. 6
18216024 2008
14
Japanese siblings with congenital chloride diarrhea. 6
10881594 2000
15
Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait. 6
9718329 1998
16
Proton-pump inhibition of gastric chloride secretion in congenital chloridorrhea. 57
8988888 1997
17
Positional candidate genes for congenital chloride diarrhea suggested by high-resolution physical mapping in chromosome region 7q31. 57
8963897 1996
18
Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea. 57
7942853 1994
19
The gene for congenital chloride diarrhea maps close to but is distinct from the gene for cystic fibrosis transmembrane conductance regulator. 57
7504277 1993
20
Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus. 57
1463018 1992
21
Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans? 57
2570528 1989
22
Congenital chloride diarrhoea in Kuwaiti children. 57
2651131 1989
23
Uniparental disomy as a mechanism for human genetic disease. 57
2893543 1988
24
Defective jejunal brush-border Na+/H+ exchange: a cause of congenital secretory diarrhoea. 57
2860286 1985
25
Congenital chloride diarrhea: possibility for prenatal diagnosis. 57
7211368 1980
26
Prostaglandin synthetase inhibitor in an infant with congenital chloride diarrhoea. 57
7377823 1980
27
Congenital chloride diarrhoea. Clinical analysis of 21 Finnish patients. 57
324405 1977
28
Colonic electrolyte transport in health and in congenital chloride diarrhea. 57
1150872 1975
29
Congenital alkalosis with diarrhea. A sequel to Darrow's original description. 57
4713568 1973
30
Abnormalities in intestinal electrolyte transport in congenital chloridorrhoea. 57
5559143 1971
31
Congenital chloride diarrhea, an autosomal recessive disease. Genetic study of 14 Finnish and 12 other families. 57
5111762 1971
32
Hypertensive angiopathy in familial chloride diarrhea. 57
4162682 1966
33
Congenital alkalosis with diarrhea. 57
5960348 1966
34
Genetic analysis of calf health in Charolais beef cattle. 61
29471383 2018

Variations for Diarrhea 1, Secretory Chloride, Congenital

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

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.371A>T (p.His124Leu) SNV Pathogenic 16755 rs121913030 GRCh37: 7:107432286-107432286
GRCh38: 7:107791841-107791841
8 SLC26A3 NM_000111.2(SLC26A3):c.2024_2026dup (p.Ile675dup) Duplication Pathogenic 55988 rs121913031 GRCh37: 7:107412534-107412535
GRCh38: 7:107772089-107772090
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.571-2A>G SNV Likely pathogenic 56005 rs386833486 GRCh37: 7:107430135-107430135
GRCh38: 7:107789690-107789690
14 SLC26A3 NM_000111.3(SLC26A3):c.269_270dup Duplication Likely pathogenic 55994 rs386833476 GRCh37: 7:107434187-107434188
GRCh38: 7:107793742-107793743
15 SLC26A3 NM_000111.2(SLC26A3):c.386C>T (p.Pro129Leu) SNV Likely pathogenic 55998 rs386833480 GRCh37: 7:107431677-107431677
GRCh38: 7:107791232-107791232
16 SLC26A3 NM_000111.2(SLC26A3):c.1579_1581delTAT Microsatellite Likely pathogenic 55982 rs386833464 GRCh37: 7:107417085-107417087
GRCh38: 7:107776640-107776642
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

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

72 (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 rs122827336
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

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 membrane GO:0016020 9.92 SYT1 SLC9A3 SLC9A2 SLC26A6 SLC26A3 PDZD3
2 integral component of membrane GO:0016021 9.91 SYT1 SLC9A3 SLC9A2 SLC26A6 SLC26A3 ATP4A
3 plasma membrane GO:0005886 9.76 SYT1 SLC9A3 SLC9A2 SLC26A6 SLC26A3 PDZD3
4 brush border GO:0005903 9.4 SLC9A3 PDZD3
5 sperm midpiece GO:0097225 9.26 SLC26A6 SLC26A3
6 apical plasma membrane GO:0016324 9.26 SLC9A3 SLC26A6 SLC26A3 PDZD3
7 brush border membrane GO:0031526 8.8 SLC9A3 SLC26A6 SLC26A3

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.87 SLC9A3 SLC9A2 SLC26A6 SLC26A3
2 potassium ion transmembrane transport GO:0071805 9.65 SLC9A3 SLC9A2 ATP4A
3 cellular response to cAMP GO:0071320 9.6 SLC26A6 SLC26A3
4 bicarbonate transport GO:0015701 9.59 SLC26A6 SLC26A3
5 potassium ion import across plasma membrane GO:1990573 9.58 ATP4A ATP12A
6 anion transport GO:0006820 9.58 SLC26A6 SLC26A3
7 sperm capacitation GO:0048240 9.56 SLC26A6 SLC26A3
8 cellular sodium ion homeostasis GO:0006883 9.55 ATP4A ATP12A
9 sodium ion import across plasma membrane GO:0098719 9.54 SLC9A3 SLC9A2
10 regulation of pH GO:0006885 9.52 SLC9A3 SLC9A2
11 sulfate transmembrane transport GO:1902358 9.51 SLC26A6 SLC26A3
12 sulfate transport GO:0008272 9.49 SLC26A6 SLC26A3
13 sodium ion export across plasma membrane GO:0036376 9.46 ATP4A ATP12A
14 proton transmembrane transport GO:1902600 9.46 SLC9A3 SLC9A2 ATP4A ATP12A
15 cellular potassium ion homeostasis GO:0030007 9.43 ATP4A ATP12A
16 regulation of intracellular pH GO:0051453 9.43 SLC9A3 SLC9A2 SLC26A6
17 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.4 ATP4A ATP12A
18 oxalate transport GO:0019532 9.37 SLC26A6 SLC26A3
19 intracellular pH elevation GO:0051454 9.32 SLC26A6 SLC26A3
20 anion transmembrane transport GO:0098656 9.26 SLC9A3 SLC9A2 SLC26A6 SLC26A3
21 ion transport GO:0006811 9.17 SLC9A3 SLC9A2 SLC26A6 SLC26A3 PDZD3 ATP4A

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 anion:anion antiporter activity GO:0015301 9.52 SLC26A6 SLC26A3
2 solute:proton antiporter activity GO:0015299 9.51 SLC9A3 SLC9A2
3 chloride transmembrane transporter activity GO:0015108 9.49 SLC26A6 SLC26A3
4 bicarbonate transmembrane transporter activity GO:0015106 9.48 SLC26A6 SLC26A3
5 sulfate transmembrane transporter activity GO:0015116 9.46 SLC26A6 SLC26A3
6 sodium:proton antiporter activity GO:0015385 9.43 SLC9A3 SLC9A2
7 secondary active sulfate transmembrane transporter activity GO:0008271 9.4 SLC26A6 SLC26A3
8 potassium:proton antiporter activity GO:0015386 9.37 SLC9A3 SLC9A2
9 oxalate transmembrane transporter activity GO:0019531 9.32 SLC26A6 SLC26A3
10 sodium:potassium-exchanging ATPase activity GO:0005391 9.26 ATP4A ATP12A
11 potassium-transporting ATPase activity GO:0008556 9.16 ATP4A ATP12A
12 potassium:proton exchanging ATPase activity GO:0008900 8.96 ATP4A ATP12A
13 antiporter activity GO:0015297 8.92 SLC9A3 SLC9A2 SLC26A6 SLC26A3

Sources for Diarrhea 1, Secretory Chloride, Congenital

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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