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MCID: BRT004
MIFTS: 56

Bartter Disease

Categories: Ear diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Bartter Disease

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MalaCards integrated aliases for Bartter Disease:

Name: Bartter Disease 12 25 15 72
Bartter Syndrome 53 25 59 37 29 6 44
Bartter's Syndrome 12 53 25
Aldosteronism with Hyperplasia of the Adrenal Cortex 12 25
Renal Tubular Normotensive Hypokalemic Alkalosis with Hypercalciuria 59
Juxtaglomerular Hyperplasia with Secondary Aldosteronism 25
Salt-Losing Tubular Disorder, Henle's Loop Type 59
Salt-Wasting Tubulopathy, Henle's Loop Type 59
Hypokalemic Alkalosis with Hypercalciuria 53
Potassium Wasting 53
Bartters Syndrome 55

Characteristics:

Orphanet epidemiological data:

59
bartter syndrome
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (Sweden),1-9/100000 (Kuwait); Age of onset: Adolescent,Adult,Antenatal,Childhood,Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases
Anatomical: Nephrological diseases Ear diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:445
KEGG 37 H00239
ICD9CM 35 255.13
MeSH 44 D001477
NCIt 50 C34412
SNOMED-CT 68 71275003
ICD10 33 E26.81
MESH via Orphanet 45 D001477
ICD10 via Orphanet 34 E26.8
UMLS via Orphanet 73 C0004775
Orphanet 59 ORPHA112
UMLS 72 C0004775
Sources

Summaries for Bartter Disease

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Genetics Home Reference : 25 Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body. In some cases, Bartter syndrome becomes apparent before birth. The disorder can cause polyhydramnios, which is an increased volume of fluid surrounding the fetus (amniotic fluid). Polyhydramnios increases the risk of premature birth. Beginning in infancy, affected individuals often fail to grow and gain weight at the expected rate (failure to thrive). They lose excess amounts of salt (sodium chloride) in their urine, which leads to dehydration, constipation, and increased urine production (polyuria). In addition, large amounts of calcium are lost through the urine (hypercalciuria), which can cause weakening of the bones (osteopenia). Some of the calcium is deposited in the kidneys as they are concentrating urine, leading to hardening of the kidney tissue (nephrocalcinosis). Bartter syndrome is also characterized by low levels of potassium in the blood (hypokalemia), which can result in muscle weakness, cramping, and fatigue. Rarely, affected children develop hearing loss caused by abnormalities in the inner ear (sensorineural deafness). Two major forms of Bartter syndrome are distinguished by their age of onset and severity. One form begins before birth (antenatal) and is often life-threatening. The other form, often called the classical form, begins in early childhood and tends to be less severe. Once the genetic causes of Bartter syndrome were identified, researchers also split the disorder into different types based on the genes involved. Types I, II, and IV have the features of antenatal Bartter syndrome. Because type IV is also associated with hearing loss, it is sometimes called antenatal Bartter syndrome with sensorineural deafness. Type III usually has the features of classical Bartter syndrome.

MalaCards based summary : Bartter Disease, also known as bartter syndrome, is related to bartter syndrome, type 2, antenatal and infantile bartter syndrome with sensorineural deafness. An important gene associated with Bartter Disease is KCNJ1 (Potassium Inwardly Rectifying Channel Subfamily J Member 1), and among its related pathways/superpathways are Aldosterone-regulated sodium reabsorption and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The drugs Spironolactone and Amphotericin B have been mentioned in the context of this disorder. Affiliated tissues include Kidney, kidney and bone, and related phenotypes are short stature and abnormality of metabolism/homeostasis

NIH Rare Diseases : 53 Bartter syndrome is a group of similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and other molecules in the body. In some cases, the condition manifests before birth with increased amniotic fluid surrounding the affected fetus (polyhydramnios). Affected infants typically do not grow and gain weight as expected (failure to thrive). Dehydration, constipation and increased urine production result from losing too much salt (sodium chloride) in the urine, and weakening of the bones can occur due to excess loss of calcium. Low levels of potassium in the blood (hypokalemia) can cause muscle weakness, cramping, and fatigue. Bartter syndrome is caused by mutations in any one of at least 5 genes and is usually inherited in an autosomal recessive manner. The different types of Bartter syndrome are classified according to the age of onset, severity, and the specific gene that causes the condition. Treatment depends on the type of the syndrome present but chiefly focuses on restoring and maintaining the proper balance of fluids and electrolytes in the body.

KEGG : 37
Bartter syndrome (BARTS) is a heterogeneous rare disease unified by autosomal recessive transmission. BS is characterized by impaired salt reabsorption in the thick ascending loop of Henle with elevated aldosterone excretion resulting in salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Type 1 and 2 are the neonatal type but genetically, clinically, and biochemically different. Type 4A shows Bartter syndrome with sensorineural deafness. Type 3 is classic Bartter syndrome. Autosomal dominant hypocalcemia with Bartter syndrome (HYPOC1) is characterized by hypocalcemic hypercalciuria with parathyroid hormone suppression.

Wikipedia : 75 Bartter syndrome is a rare inherited disease characterised by a defect in the thick ascending limb of... more...

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Related Diseases for Bartter Disease

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Diseases in the Bartter Disease family:

Bartter Syndrome, Type 3 Bartter Syndrome Type 4

Diseases related to Bartter Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 264)
# Related Disease Score Top Affiliating Genes
1 bartter syndrome, type 2, antenatal 33.2 KCNJ1 CASR
2 infantile bartter syndrome with sensorineural deafness 33.1 CLCNKB CLCNKA BSND
3 bartter syndrome, type 4b, neonatal, with sensorineural deafness 32.6 CLCNKB CLCNKA
4 bartter syndrome, type 3 31.6 SLC12A3 SLC12A1 REN KCNJ1 CLCNKB BSND
5 chondrocalcinosis 30.7 SLC12A3 CASR
6 pseudohyperkalemia, familial, 2, due to red cell leak 30.6 REN KCNJ1
7 renal hypertension 30.1 SLC12A3 REN
8 hypercalciuria, absorptive, 2 30.0 CLCN5 CASR
9 polyhydramnios 30.0 SLC12A1 KCNJ1 CLCNKB
10 interstitial nephritis 29.9 UMOD REN
11 pseudohypoaldosteronism 29.9 SLC12A3 REN KCNJ1
12 vesicoureteral reflux 1 29.8 UMOD REN
13 diabetes insipidus 29.8 SLC12A1 REN CLCNKA
14 hypertension, essential 29.8 SLC12A3 SLC12A1 REN
15 antenatal bartter syndrome 29.6 SLC12A1 REN KCNJ1 BSND
16 diabetes insipidus, nephrogenic, autosomal 29.5 SLC12A1 CLCNKA CASR
17 nephrolithiasis, calcium oxalate 29.5 UMOD CLCN5 CASR
18 kidney disease 29.2 UMOD REN CLCN5 CASR
19 dent disease 1 29.0 CLCNKB CLCNKA CLCN5
20 hypokalemia 28.8 SLC12A3 SLC12A1 REN KCNJ1 CLCNKB BSND
21 gitelman syndrome 28.6 SLC12A3 SLC12A1 REN KCNJ1 CLCNKB CASR
22 nephrocalcinosis 28.4 UMOD SLC12A3 SLC12A1 KCNJ1 CLCNKB CLCN5
23 bartter syndrome, type 1, antenatal 11.9
24 bartter syndrome, type 4a, neonatal, with sensorineural deafness 11.9
25 bartter syndrome, type 5, antenatal, transient 11.8
26 syndrome of inappropriate antidiuretic hormone 11.5
27 thyrotoxic periodic paralysis 11.2
28 diarrhea 1, secretory chloride, congenital 11.2
29 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia 11.2
30 primary hypomagnesemia 11.2
31 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.2
32 sensorineural hearing loss 10.4
33 arthrogryposis, distal, type 3 10.3 SLC12A3 REN
34 cystic fibrosis 10.3
35 renal tubular acidosis 10.3
36 hyperuricemia 10.3
37 gout 10.3
38 rickets 10.2
39 cystinosis, nephropathic 10.2
40 focal segmental glomerulosclerosis 10.2
41 paraneoplastic syndromes 10.2
42 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.2
43 autosomal recessive disease 10.2
44 congenital chloride diarrhea 10.1
45 lambert-eaton myasthenic syndrome 10.1
46 distal renal tubular acidosis 10.1
47 anorexia nervosa 10.1
48 diarrhea 10.1
49 hyperparathyroidism 10.1
50 pseudohypoparathyroidism 10.1

Graphical network of the top 20 diseases related to Bartter Disease:



Diseases related to Bartter Disease
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Symptoms & Phenotypes for Bartter Disease

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Human phenotypes related to Bartter Disease:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 abnormality of metabolism/homeostasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001939

MGI Mouse Phenotypes related to Bartter Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.87 BSND CASR KCNJ1 REN SLC12A1 SLC12A2
2 growth/size/body region MP:0005378 9.81 BSND CASR CLCN5 CLCNKA KCNJ1 REN
3 cardiovascular system MP:0005385 9.8 BSND CLCNKA KCNJ1 REN SLC12A1 SLC12A2
4 homeostasis/metabolism MP:0005376 9.7 BSND CASR CLCN5 CLCNKA CLCNKB KCNJ1
5 renal/urinary system MP:0005367 9.32 BSND CASR CLCN5 CLCNKA CLCNKB KCNJ1
Sources

Drugs & Therapeutics for Bartter Disease

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Drugs for Bartter Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
2
Amphotericin B Approved, Investigational Phase 4 1397-89-3 14956 5280965
3
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
4 Hormones Phase 4
5 Diuretics, Potassium Sparing Phase 4
6 Natriuretic Agents Phase 4
7 Mineralocorticoid Receptor Antagonists Phase 4
8 diuretics Phase 4
9 Mineralocorticoids Phase 4
10 Hormone Antagonists Phase 4
11 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
12 Antifungal Agents Phase 4
13 Liposomal amphotericin B Phase 4
14 Anti-Infective Agents Phase 4
15 Anti-Bacterial Agents Phase 4
16 Antiparasitic Agents Phase 4
17 Antiprotozoal Agents Phase 4
18
Parathyroid hormone Approved, Investigational 9002-64-6
19
Acetazolamide Approved, Vet_approved 59-66-5 1986
20
Hydrochlorothiazide Approved, Vet_approved 58-93-5 3639
21
Calcium Approved, Nutraceutical 7440-70-2 271
22 Sodium Chloride Symporter Inhibitors
23 Anticonvulsants
24 Carbonic Anhydrase Inhibitors
25 Calcium, Dietary
26 Antihypertensive Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Use of Spironolactone for the Prevention of Electrolyte Abnormalities in Patients Treated With Amphotericin B Terminated NCT01843309 Phase 4 Spironolactone 100mg;Spironolactone 200mg;Placebo
2 Case-control Study of the PTH Homeostasis in Adolescents and Young Adults With Bartter Syndrome Unknown status NCT01021280
3 Spironolactone to Decrease Potassium Wasting in Hypercalciuric Patients Treated With Thiazide Diuretics Completed NCT00276289 Spironolactone
4 Study of Myocardial Interstitial Fibrosis in Hyperaldosteronism Noninvasive Comparative Study in Humans of the Respective Cardiovascular Effects of Hyperaldosteronism and Hypertension by Magnetic Resonance Imaging Completed NCT02938910
5 Medications and the Risk of Sudden Cardiac Death Completed NCT00241800
6 A Translational Approach to Gitelman Syndrome Completed NCT00822107 Hydrochlorothiazide
7 Acetazolamide (AZ) for Management of Refractory Hypokalemia Metabolic Alkalosis in Bartter Syndrome Recruiting NCT03847571 Acetazolamide
8 Comparison of the Impact of Nutritional Treatment vs Hydrochlorothiazide on Bone Mineral Density and Body Composition in Children With Idiopathic Hypercalciuria of the Hospital Infantil de Méxio Federico Gómez Recruiting NCT03951558 Hydrochlorothiazide
9 Screening for Primary Aldosteronism in a Population of Patients With Hypertension Recruiting NCT03105531
10 Stone Disease in Children and Their Families Available NCT00765531

Search NIH Clinical Center for Bartter Disease

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Captopril
Enalapril
Enalapril Maleate
Enalaprilat

Cochrane evidence based reviews: bartter syndrome

Sources

Genetic Tests for Bartter Disease

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Genetic tests related to Bartter Disease:

# Genetic test Affiliating Genes
1 Bartter Syndrome 29
Sources

Anatomical Context for Bartter Disease

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MalaCards organs/tissues related to Bartter Disease:

41
Kidney, Bone, Cortex, Adrenal Cortex, Lung, Brain, Eye
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Bartter Disease:
# Tissue Anatomical CompartmentCell Relevance
1 Kidney Loop of Henle Loop of Henle Cells Affected by disease
Sources

Publications for Bartter Disease

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Articles related to Bartter Disease:

(show top 50) (show all 696)
# Title Authors PMID Year
1
In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation. 9 38 71
19513753 2009
2
Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin. 9 38 71
12574213 2003
3
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. 9 38 71
11687798 2001
4
A hyperprostaglandin E syndrome mutation in Kir1.1 (renal outer medullary potassium) channels reveals a crucial residue for channel function in Kir1.3 channels. 9 38 71
9727001 1998
5
Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K+ channel function. 9 38 71
9015377 1997
6
Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes. 9 38 71
9002665 1997
7
Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism. 38 71
26963954 2016
8
Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness. 38 71
18310267 2008
9
Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype. 38 71
11102542 2000
10
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. 38 71
10906158 2000
11
Functional consequences of ROMK mutants linked to antenatal Bartter's syndrome and implications for treatment. 9 71
9580661 1998
12
Neonatal Bartter syndrome: spontaneous resolution of all signs and symptoms. 38 71
9630034 1998
13
Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p. 38 71
9463315 1998
14
A common NKCC2 mutation in Costa Rican Bartter's syndrome patients: evidence for a founder effect. 9 71
9355073 1997
15
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. 9 71
9326936 1997
16
Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. 9 71
8841184 1996
17
Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. 9 71
8640224 1996
18
A novel SLC12A1 gene mutation associated with hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis in four patients. 71
28095294 2017
19
Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations. 71
27120771 2016
20
Threading through the mizmaze of Bartter syndrome. 38 6
16773399 2006
21
Salt wasting and deafness resulting from mutations in two chloride channels. 71
15044642 2004
22
Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. 71
11734858 2001
23
Mutation of the Na(+)-K(+)-2Cl(-) cotransporter NKCC2 in mice is associated with severe polyuria and a urea-selective concentrating defect without hyperreninemia. 9 38
20219826 2010
24
New roles for renal potassium channels. 9 38
20091480 2010
25
Genetic causes of hypercalciuric nephrolithiasis. 9 38
18446382 2009
26
Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. 9 38
19646679 2009
27
A highly conserved motif at the COOH terminus dictates endoplasmic reticulum exit and cell surface expression of NKCC2. 9 38
19535327 2009
28
Deletion of exons 2-4 in the BSND gene causes severe antenatal Bartter syndrome. 9 38
18843510 2009
29
Successful utilization of aliskiren, a direct renin inhibitor in Bartter syndrome. 9 38
19279535 2009
30
Large-scale proteomics and phosphoproteomics of urinary exosomes. 9 38
19056867 2009
31
Disease-causing dysfunctions of barttin in Bartter syndrome type IV. 9 38
18776122 2009
32
Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population. 9 38
18443236 2008
33
Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance. 9 38
18094726 2008
34
Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1. 9 38
17998760 2007
35
Genetics of hypercalciuric nephrolithiasis: renal stone disease. 9 38
17872384 2007
36
Molecular analysis of patients with type III Bartter syndrome: picking up large heterozygous deletions with semiquantitative PCR. 9 38
17622951 2007
37
A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism. 9 38
17401586 2007
38
Neonatal Bartter syndrome. 9 38
16899189 2006
39
A patient with cystinosis presenting transient features of Bartter syndrome. 9 38
17172073 2006
40
Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome. 9 38
17048213 2006
41
Barttin mutations in antenatal Bartter syndrome with sensorineural deafness. 9 38
16773427 2006
42
Type IV Bartter syndrome: report of two new cases. 9 38
16583241 2006
43
A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV. 9 38
16328537 2006
44
A Spanish founder mutation in the chloride channel gene, CLCNKB, as a cause of atypical Bartter syndrome in adult age. 9 38
16391491 2006
45
A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain. 9 38
15875219 2005
46
Renal tubular transport and the genetic basis of hypertensive disease. 9 38
15980941 2005
47
Expression of the potassium channel ROMK in adult and fetal human kidney. 9 38
15895241 2005
48
Dimeric architecture of the human bumetanide-sensitive Na-K-Cl Co-transporter. 9 38
14638903 2003
49
The neonatal variant of Bartter syndrome and deafness: preservation of renal function. 9 38
12949294 2003
50
Bartter syndrome. 9 38
12920401 2003
Sources

Variations for Bartter Disease

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ClinVar genetic disease variations for Bartter Disease:

6 (show all 21)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BSND NM_057176.3(BSND): c.189C> T (p.Val63=) single nucleotide variant Conflicting interpretations of pathogenicity rs144505461 1:55470706-55470706 1:55005033-55005033
2 BSND NM_057176.3(BSND): c.63C> T (p.Leu21=) single nucleotide variant Conflicting interpretations of pathogenicity rs141611486 1:55464922-55464922 1:54999249-54999249
3 BSND NM_057176.3(BSND): c.102C> T (p.Tyr34=) single nucleotide variant Conflicting interpretations of pathogenicity rs141403253 1:55464961-55464961 1:54999288-54999288
4 BSND NM_057176.3(BSND): c.309G> C (p.Glu103Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs200246335 1:55472706-55472706 1:55007033-55007033
5 BSND NM_057176.3(BSND): c.-25C> T single nucleotide variant Conflicting interpretations of pathogenicity rs188418228 1:55464835-55464835 1:54999162-54999162
6 BSND NM_057176.3(BSND): c.696G> A (p.Arg232=) single nucleotide variant Uncertain significance rs886046424 1:55474034-55474034 1:55008361-55008361
7 BSND NM_057176.3(BSND): c.604G> A (p.Asp202Asn) single nucleotide variant Uncertain significance rs886046423 1:55473942-55473942 1:55008269-55008269
8 BSND NM_057176.3(BSND): c.216C> A (p.Ile72=) single nucleotide variant Uncertain significance rs755897497 1:55470733-55470733 1:55005060-55005060
9 BSND NM_057176.3(BSND): c.713T> A (p.Phe238Tyr) single nucleotide variant Uncertain significance rs752564097 1:55474051-55474051 1:55008378-55008378
10 BSND NM_057176.3(BSND): c.-175C> T single nucleotide variant Uncertain significance rs886046422 1:55464685-55464685 1:54999012-54999012
11 BSND NM_057176.3(BSND): c.-34G> A single nucleotide variant Uncertain significance rs768683733 1:55464826-55464826 1:54999153-54999153
12 BSND NM_057176.3(BSND): c.-156G> C single nucleotide variant Likely benign rs183925883 1:55464704-55464704 1:54999031-54999031
13 BSND NM_057176.3(BSND): c.*94A> G single nucleotide variant Likely benign rs80300625 1:55474395-55474395 1:55008722-55008722
14 BSND NM_057176.3(BSND): c.-241G> A single nucleotide variant Likely benign rs12069526 1:55464619-55464619 1:54998946-54998946
15 BSND NM_057176.3(BSND): c.924G> A (p.Pro308=) single nucleotide variant Benign/Likely benign rs33938617 1:55474262-55474262 1:55008589-55008589
16 BSND NM_057176.3(BSND): c.127G> A (p.Val43Ile) single nucleotide variant Benign/Likely benign rs34561376 1:55464986-55464986 1:54999313-54999313
17 BSND NM_057176.3(BSND): c.177+11G> A single nucleotide variant Benign/Likely benign rs78904893 1:55465047-55465047 1:54999374-54999374
18 BSND NM_057176.3(BSND): c.-117T> C single nucleotide variant Benign rs2500340 1:55464743-55464743 1:54999070-54999070
19 BSND NM_057176.3(BSND): c.-70C> G single nucleotide variant Benign rs2500341 1:55464790-55464790 1:54999117-54999117
20 BSND NM_057176.3(BSND): c.*24A> C single nucleotide variant Benign rs6682884 1:55474325-55474325 1:55008652-55008652
21 BSND NM_057176.3(BSND): c.*175C> G single nucleotide variant Benign rs4339899 1:55474476-55474476 1:55008803-55008803
Sources

Expression for Bartter Disease

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Search GEO for disease gene expression data for Bartter Disease.
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Pathways for Bartter Disease

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Pathways related to Bartter Disease according to KEGG:

37
# Name Kegg Source Accession
1 Aldosterone-regulated sodium reabsorption hsa04960

Pathways related to Bartter Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 66
Show member pathways
 12.63 SLC12A3 SLC12A2 SLC12A1 CLCNKB CLCNKA CLCN5
2
Neuropathic Pain-Signaling in Dorsal Horn Neurons 64
Show member pathways
 12.15 SLC12A3 SLC12A2 SLC12A1 CLCN5
3
Ion channel transport 66
Show member pathways
 11.95 CLCNKB CLCNKA CLCN5 BSND
4
Hepatic ABC Transporters 64
Show member pathways
 11.59 CLCNKB CLCNKA CLCN5
5
Diuretics Pathway, Pharmacodynamics 61
10.56 SLC12A3 SLC12A1 KCNJ1 CLCNKB CLCNKA BSND
Sources

GO Terms for Bartter Disease

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Cellular components related to Bartter Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.96 UMOD SLC12A3 SLC12A2 SLC12A1 KCNJ1 CLCNKB
2 integral component of plasma membrane GO:0005887 9.7 SLC12A3 SLC12A2 CLCNKB CLCNKA CLCN5 CASR
3 basolateral plasma membrane GO:0016323 9.54 UMOD CASR BSND
4 chloride channel complex GO:0034707 9.4 CLCNKB CLCNKA
5 plasma membrane GO:0005886 9.36 UMOD SLC12A3 SLC12A2 SLC12A1 REN KCNJ1
6 apical plasma membrane GO:0016324 9.35 UMOD SLC12A3 SLC12A2 SLC12A1 CASR
7 membrane GO:0016020 10.06 UMOD SLC12A3 SLC12A2 SLC12A1 REN KCNJ1

Biological processes related to Bartter Disease according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.93 SLC12A3 SLC12A2 SLC12A1 CLCNKB CLCNKA CLCN5
2 ion transport GO:0006811 9.91 SLC12A3 SLC12A2 SLC12A1 KCNJ1 CLCNKB CLCNKA
3 ion transmembrane transport GO:0034220 9.73 SLC12A1 KCNJ1 CLCNKB CLCNKA CLCN5 BSND
4 regulation of ion transmembrane transport GO:0034765 9.71 KCNJ1 CLCNKB CLCNKA
5 potassium ion transport GO:0006813 9.7 SLC12A2 SLC12A1 KCNJ1
6 sodium ion transport GO:0006814 9.69 SLC12A3 SLC12A2 SLC12A1
7 sodium ion transmembrane transport GO:0035725 9.67 SLC12A3 SLC12A2 SLC12A1
8 cell volume homeostasis GO:0006884 9.65 SLC12A3 SLC12A2 SLC12A1
9 potassium ion import across plasma membrane GO:1990573 9.62 SLC12A3 SLC12A2 SLC12A1 KCNJ1
10 potassium ion homeostasis GO:0055075 9.61 SLC12A3 SLC12A2 SLC12A1
11 chloride ion homeostasis GO:0055064 9.58 SLC12A3 SLC12A2 SLC12A1
12 chloride transport GO:0006821 9.55 SLC12A2 CLCNKB CLCNKA CLCN5 BSND
13 excretion GO:0007588 9.35 UMOD KCNJ1 CLCNKB CLCNKA CLCN5
14 chloride transmembrane transport GO:1902476 9.23 SLC12A3 SLC12A2 SLC12A1 CLCNKB CLCNKA CLCN5

Molecular functions related to Bartter Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chloride channel activity GO:0005254 9.71 CLCNKB CLCNKA CLCN5 BSND
2 symporter activity GO:0015293 9.61 SLC12A3 SLC12A2 SLC12A1
3 potassium:chloride symporter activity GO:0015379 9.54 SLC12A3 SLC12A2 SLC12A1
4 cation:chloride symporter activity GO:0015377 9.5 SLC12A3 SLC12A2 SLC12A1
5 sodium ion transmembrane transporter activity GO:0015081 9.43 SLC12A3 SLC12A2 SLC12A1
6 sodium:potassium:chloride symporter activity GO:0008511 9.33 SLC12A3 SLC12A2 SLC12A1
7 sodium:chloride symporter activity GO:0015378 9.13 SLC12A3 SLC12A2 SLC12A1
8 voltage-gated chloride channel activity GO:0005247 8.8 CLCNKB CLCNKA CLCN5
Sources

Sources for Bartter Disease

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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