MCID: BRT004
MIFTS: 56

Bartter Disease

Categories: Ear diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Bartter Disease

MalaCards integrated aliases for Bartter Disease:

Name: Bartter Disease 12 25 15 71
Bartter Syndrome 52 25 58 36 29 6 43
Bartter's Syndrome 12 52 25
Aldosteronism with Hyperplasia of the Adrenal Cortex 12 25
Renal Tubular Normotensive Hypokalemic Alkalosis with Hypercalciuria 58
Juxtaglomerular Hyperplasia with Secondary Aldosteronism 25
Salt-Losing Tubular Disorder, Henle's Loop Type 58
Salt-Wasting Tubulopathy, Henle's Loop Type 58
Hypokalemic Alkalosis with Hypercalciuria 52
Potassium Wasting 52
Bartters Syndrome 54

Characteristics:

Orphanet epidemiological data:

58
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:

Orphanet: 58  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:445
KEGG 36 H00239
ICD9CM 34 255.13
MeSH 43 D001477
NCIt 49 C34412
SNOMED-CT 67 71275003
ICD10 32 E26.81
MESH via Orphanet 44 D001477
ICD10 via Orphanet 33 E26.8
UMLS via Orphanet 72 C0004775
Orphanet 58 ORPHA112
SNOMED-CT via HPO 68 237836003
UMLS 71 C0004775

Summaries for Bartter Disease

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 infantile bartter syndrome with sensorineural deafness and bartter syndrome, type 4a, neonatal, 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 Miconazole have been mentioned in the context of this disorder. Affiliated tissues include Kidney, bone and cortex, and related phenotypes are short stature and abnormality of metabolism/homeostasis

NIH Rare Diseases : 52 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 : 36 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 : 74 Bartter syndrome is a rare inherited disease characterised by a defect in the thick ascending limb of... more...

Related Diseases for Bartter Disease

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 280)
# Related Disease Score Top Affiliating Genes
1 infantile bartter syndrome with sensorineural deafness 34.2 CLCNKB CLCNKA BSND
2 bartter syndrome, type 4a, neonatal, with sensorineural deafness 33.4 KCNJ1 CLCNKB BSND
3 bartter syndrome, type 4b, neonatal, with sensorineural deafness 33.3 CLCNKB CLCNKA
4 bartter syndrome, type 2, antenatal 33.2 SLC12A1 KCNJ1 CASR BSND
5 bartter syndrome, type 3 32.6 SLC12A3 SLC12A1 REN KCNJ1 CLCNKB CLCNKA
6 bartter syndrome, type 1, antenatal 32.4 SLC12A3 SLC12A1 KCNJ1 CLDN16 CASR AQP2
7 primary hypomagnesemia 32.1 SLC12A1 KCNJ1 CLDN16
8 chondrocalcinosis 31.1 SLC12A3 REN CASR
9 congenital chloride diarrhea 30.8 SLC26A3 REN
10 hydronephrosis 30.3 SLC12A1 REN AQP2
11 placenta disease 30.2 SLC12A1 REN KCNJ1
12 pseudohypoaldosteronism 30.2 SLC12A3 REN KCNJ1
13 hypokalemic periodic paralysis, type 1 30.2 SLC12A3 KCNJ1 CLCN1
14 hypercalciuria, absorptive, 2 30.1 KCNJ1 CLDN16 CLCN5 CASR
15 inappropriate adh syndrome 30.0 REN AVP AQP2
16 cystic kidney disease 30.0 UMOD REN AVP AQP2
17 fanconi syndrome 29.9 UMOD CLCN5 AVP
18 central pontine myelinolysis 29.9 AVP AQP2
19 hypocalcemia, autosomal dominant 1 29.9 CLDN16 CLCNKB CASR BSND
20 chronic kidney disease 29.8 UMOD REN CASR AVP AQP2
21 pendred syndrome 29.8 SLC26A3 SLC12A3 KCNJ10 AQP2
22 kidney disease 29.7 UMOD SLC12A3 SLC12A1 REN CLCN5 CASR
23 antenatal bartter syndrome 29.7 SLC12A1 REN MAGED2 KCNJ1 BSND
24 diabetes insipidus 29.7 SLC12A1 REN CLCNKB CLCNKA BSND AVP
25 dent disease 1 29.4 SLC12A1 KCNJ1 CLCNKB CLCNKA CLCN5 CLCN1
26 nephrocalcinosis 29.3 UMOD SLC12A3 SLC12A1 REN KCNJ1 CLDN16
27 gitelman syndrome 29.3 STK39 SLC12A3 SLC12A1 REN KCNJ10 KCNJ1
28 hypokalemia 29.2 SLC12A3 SLC12A1 REN KCNJ10 KCNJ1 CLCNKB
29 polyhydramnios 29.1 SLC26A3 SLC12A3 SLC12A1 MAGED2 KCNJ1 CLCNKB
30 liddle syndrome 1 29.1 STK39 SLC12A3 SLC12A1 REN KCNJ1 CLCNKB
31 diabetes insipidus, nephrogenic, autosomal 29.0 SLC12A3 SLC12A1 REN KCNJ1 CLCNKB CLCNKA
32 hypertension, essential 28.5 UMOD STK39 SLC12A3 SLC12A2 SLC12A1 REN
33 nephrolithiasis, calcium oxalate 27.8 UMOD TALDO1 SLC12A3 SLC12A1 REN KCNJ1
34 bartter syndrome, type 5, antenatal, transient 11.8
35 thyrotoxic periodic paralysis 11.2
36 diarrhea 1, secretory chloride, congenital 11.2
37 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia 11.2
38 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.2
39 autosomal dominant tubulointerstitial kidney disease, ren-related 10.5 UMOD REN
40 autosomal dominant tubulointerstitial kidney disease 10.5 UMOD REN
41 deafness, autosomal recessive 96 10.4 CLCNKB CLCNKA
42 arthrogryposis, distal, type 3 10.4 SLC12A3 REN
43 sensorineural hearing loss 10.4
44 idiopathic hypercalciuria 10.4 REN CLCN5 CASR
45 familial periodic paralysis 10.3 SLC12A3 KCNJ1 CLCN1
46 deafness, autosomal dominant 2a 10.3 CLCNKA BSND
47 cystic fibrosis 10.3
48 renal tubular acidosis 10.3
49 hyperuricemia 10.3
50 myotonia congenita 10.3 CLCNKB CLCN5 CLCN1

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



Diseases related to Bartter Disease

Symptoms & Phenotypes for Bartter Disease

Human phenotypes related to Bartter Disease:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 abnormality of metabolism/homeostasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001939

GenomeRNAi Phenotypes related to Bartter Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00107-A-1 10.05 STK39
2 Decreased viability GR00221-A-2 10.05 STK39
3 Decreased viability GR00240-S-1 10.05 CLCN1 STK39
4 Decreased viability GR00301-A 10.05 STK39
5 Decreased viability GR00402-S-2 10.05 AQP2 AVP BSND CASR CLCN1 CLCN5
6 no effect GR00402-S-1 9.62 AQP2 AVP BSND CASR CLCN1 CLCN5

MGI Mouse Phenotypes related to Bartter Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 AQP2 AVP BSND CASR CLCN1 CLCNKA
2 growth/size/body region MP:0005378 9.97 AQP2 BSND CASR CLCN1 CLCN5 CLCNKA
3 homeostasis/metabolism MP:0005376 9.93 AQP2 AVP BSND CASR CLCN1 CLCN5
4 renal/urinary system MP:0005367 9.5 AQP2 AVP BSND CASR CLCN5 CLCNKA

Drugs & Therapeutics for Bartter Disease

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Spironolactone Approved Phase 4 52-01-7, 1952-01-7 5833
2
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
3
Amphotericin B Approved, Investigational Phase 4 1397-89-3 14956 5280965
4 Natriuretic Agents Phase 4
5 Mineralocorticoids Phase 4
6 diuretics Phase 4
7 Hormone Antagonists Phase 4
8 Diuretics, Potassium Sparing Phase 4
9 Mineralocorticoid Receptor Antagonists Phase 4
10 Hormones Phase 4
11 Anti-Bacterial Agents Phase 4
12 Anti-Infective Agents Phase 4
13 Antifungal Agents Phase 4
14 Liposomal amphotericin B Phase 4
15 Antiparasitic Agents Phase 4
16 Antiprotozoal Agents Phase 4
17
Parathyroid hormone Approved, Investigational 9002-64-6
18
Acetazolamide Approved, Vet_approved 59-66-5 1986
19
Hydrochlorothiazide Approved, Vet_approved 58-93-5 3639
20
Calcium Approved, Nutraceutical 7440-70-2 271
21 Sodium Chloride Symporter Inhibitors
22 Anticonvulsants
23 Carbonic Anhydrase Inhibitors
24 Calcium, Dietary
25 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 71 / NDF-RT 50 :


Captopril
Enalapril
Enalapril Maleate
Enalaprilat

Cochrane evidence based reviews: bartter syndrome

Genetic Tests for Bartter Disease

Genetic tests related to Bartter Disease:

# Genetic test Affiliating Genes
1 Bartter Syndrome 29

Anatomical Context for Bartter Disease

MalaCards organs/tissues related to Bartter Disease:

40
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

Publications for Bartter Disease

Articles related to Bartter Disease:

(show top 50) (show all 706)
# 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. 6 61 54
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. 6 54 61
12574213 2003
3
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. 54 6 61
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. 6 54 61
9727001 1998
5
Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K+ channel function. 54 6 61
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. 61 54 6
9002665 1997
7
Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism. 6 61
26963954 2016
8
Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness. 6 61
18310267 2008
9
Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype. 61 6
11102542 2000
10
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. 6 61
10906158 2000
11
Functional consequences of ROMK mutants linked to antenatal Bartter's syndrome and implications for treatment. 6 54
9580661 1998
12
Neonatal Bartter syndrome: spontaneous resolution of all signs and symptoms. 6 61
9630034 1998
13
Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p. 61 6
9463315 1998
14
A common NKCC2 mutation in Costa Rican Bartter's syndrome patients: evidence for a founder effect. 54 6
9355073 1997
15
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. 6 54
9326936 1997
16
Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. 54 6
8841184 1996
17
Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. 6 54
8640224 1996
18
A novel SLC12A1 gene mutation associated with hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis in four patients. 6
28095294 2017
19
Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations. 6
27120771 2016
20
Threading through the mizmaze of Bartter syndrome. 61 52
16773399 2006
21
Salt wasting and deafness resulting from mutations in two chloride channels. 6
15044642 2004
22
Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. 6
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. 61 54
20219826 2010
24
New roles for renal potassium channels. 54 61
20091480 2010
25
Genetic causes of hypercalciuric nephrolithiasis. 54 61
18446382 2009
26
Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. 61 54
19646679 2009
27
A highly conserved motif at the COOH terminus dictates endoplasmic reticulum exit and cell surface expression of NKCC2. 54 61
19535327 2009
28
Deletion of exons 2-4 in the BSND gene causes severe antenatal Bartter syndrome. 54 61
18843510 2009
29
Successful utilization of aliskiren, a direct renin inhibitor in Bartter syndrome. 61 54
19279535 2009
30
Large-scale proteomics and phosphoproteomics of urinary exosomes. 54 61
19056867 2009
31
Disease-causing dysfunctions of barttin in Bartter syndrome type IV. 54 61
18776122 2009
32
Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population. 61 54
18443236 2008
33
Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance. 61 54
18094726 2008
34
Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1. 54 61
17998760 2007
35
Genetics of hypercalciuric nephrolithiasis: renal stone disease. 61 54
17872384 2007
36
Molecular analysis of patients with type III Bartter syndrome: picking up large heterozygous deletions with semiquantitative PCR. 54 61
17622951 2007
37
A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism. 61 54
17401586 2007
38
Neonatal Bartter syndrome. 54 61
16899189 2006
39
A patient with cystinosis presenting transient features of Bartter syndrome. 54 61
17172073 2006
40
Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome. 54 61
17048213 2006
41
Barttin mutations in antenatal Bartter syndrome with sensorineural deafness. 54 61
16773427 2006
42
Type IV Bartter syndrome: report of two new cases. 61 54
16583241 2006
43
A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV. 54 61
16328537 2006
44
A Spanish founder mutation in the chloride channel gene, CLCNKB, as a cause of atypical Bartter syndrome in adult age. 54 61
16391491 2006
45
A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain. 61 54
15875219 2005
46
Renal tubular transport and the genetic basis of hypertensive disease. 54 61
15980941 2005
47
Expression of the potassium channel ROMK in adult and fetal human kidney. 61 54
15895241 2005
48
Dimeric architecture of the human bumetanide-sensitive Na-K-Cl Co-transporter. 61 54
14638903 2003
49
The neonatal variant of Bartter syndrome and deafness: preservation of renal function. 61 54
12949294 2003
50
Bartter syndrome. 61 54
12920401 2003

Variations for Bartter Disease

ClinVar genetic disease variations for Bartter Disease:

6 (show all 21) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BSND NM_057176.3(BSND):c.189C>T (p.Val63=)SNV Conflicting interpretations of pathogenicity 46549 rs144505461 1:55470706-55470706 1:55005033-55005033
2 BSND NM_057176.3(BSND):c.63C>T (p.Leu21=)SNV Conflicting interpretations of pathogenicity 46550 rs141611486 1:55464922-55464922 1:54999249-54999249
3 BSND NM_057176.3(BSND):c.102C>T (p.Tyr34=)SNV Conflicting interpretations of pathogenicity 227188 rs141403253 1:55464961-55464961 1:54999288-54999288
4 BSND NM_057176.3(BSND):c.309G>C (p.Glu103Asp)SNV Conflicting interpretations of pathogenicity 227191 rs200246335 1:55472706-55472706 1:55007033-55007033
5 BSND NM_057176.3(BSND):c.-25C>TSNV Conflicting interpretations of pathogenicity 297676 rs188418228 1:55464835-55464835 1:54999162-54999162
6 BSND NM_057176.3(BSND):c.696G>A (p.Arg232=)SNV Uncertain significance 297679 rs886046424 1:55474034-55474034 1:55008361-55008361
7 BSND NM_057176.3(BSND):c.-34G>ASNV Uncertain significance 297675 rs768683733 1:55464826-55464826 1:54999153-54999153
8 BSND NM_057176.3(BSND):c.-175C>TSNV Uncertain significance 297671 rs886046422 1:55464685-55464685 1:54999012-54999012
9 BSND NM_057176.3(BSND):c.604G>A (p.Asp202Asn)SNV Uncertain significance 297678 rs886046423 1:55473942-55473942 1:55008269-55008269
10 BSND NM_057176.3(BSND):c.216C>A (p.Ile72=)SNV Uncertain significance 297677 rs755897497 1:55470733-55470733 1:55005060-55005060
11 BSND NM_057176.3(BSND):c.713T>A (p.Phe238Tyr)SNV Uncertain significance 297680 rs752564097 1:55474051-55474051 1:55008378-55008378
12 BSND NM_057176.3(BSND):c.-156G>CSNV Likely benign 297672 rs183925883 1:55464704-55464704 1:54999031-54999031
13 BSND NM_057176.3(BSND):c.*94A>GSNV Likely benign 297682 rs80300625 1:55474395-55474395 1:55008722-55008722
14 BSND NM_057176.3(BSND):c.-241G>ASNV Likely benign 297670 rs12069526 1:55464619-55464619 1:54998946-54998946
15 BSND NM_057176.3(BSND):c.924G>A (p.Pro308=)SNV Benign/Likely benign 46553 rs33938617 1:55474262-55474262 1:55008589-55008589
16 BSND NM_057176.3(BSND):c.127G>A (p.Val43Ile)SNV Benign/Likely benign 46545 rs34561376 1:55464986-55464986 1:54999313-54999313
17 BSND NM_057176.3(BSND):c.177+11G>ASNV Benign/Likely benign 46546 rs78904893 1:55465047-55465047 1:54999374-54999374
18 BSND NM_057176.3(BSND):c.*175C>GSNV Benign 368877 rs4339899 1:55474476-55474476 1:55008803-55008803
19 BSND NM_057176.3(BSND):c.*24A>CSNV Benign 297681 rs6682884 1:55474325-55474325 1:55008652-55008652
20 BSND NM_057176.3(BSND):c.-117T>CSNV Benign 297673 rs2500340 1:55464743-55464743 1:54999070-54999070
21 BSND NM_057176.3(BSND):c.-70C>GSNV Benign 297674 rs2500341 1:55464790-55464790 1:54999117-54999117

Expression for Bartter Disease

Search GEO for disease gene expression data for Bartter Disease.

Pathways for Bartter Disease

Pathways related to Bartter Disease according to KEGG:

36
# 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
Show member pathways
12.82 SLC26A3 SLC12A3 SLC12A2 SLC12A1 CLCNKB CLCNKA
2
Show member pathways
12.31 SLC12A3 SLC12A2 SLC12A1 CLCN5 CLCN1
3
Show member pathways
12.15 CLCNKB CLCNKA CLCN5 CLCN1 BSND
4
Show member pathways
11.55 CLCNKB CLCNKA CLCN5 CLCN1
5 10.63 STK39 SLC12A3 SLC12A1 KCNJ1 CLCNKB CLCNKA

GO Terms for Bartter Disease

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.28 UMOD STK39 SLC26A3 SLC12A3 SLC12A2 SLC12A1
2 integral component of membrane GO:0016021 10.24 UMOD SLC26A3 SLC12A3 SLC12A2 SLC12A1 KCNJ10
3 plasma membrane GO:0005886 10.16 UMOD SLC26A3 SLC12A3 SLC12A2 SLC12A1 REN
4 cell GO:0005623 9.98 SLC26A3 SLC12A3 SLC12A2 SLC12A1 CLDN16 CASR
5 integral component of plasma membrane GO:0005887 9.7 SLC26A3 SLC12A3 SLC12A2 KCNJ10 CLCNKB CLCNKA
6 basolateral plasma membrane GO:0016323 9.63 UMOD STK39 KCNJ10 CASR BSND AQP2
7 chloride channel complex GO:0034707 9.58 CLCNKB CLCNKA CLCN1
8 apical plasma membrane GO:0016324 9.23 UMOD STK39 SLC26A3 SLC12A3 SLC12A2 SLC12A1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 10.06 SLC26A3 SLC12A3 SLC12A2 SLC12A1 CLCNKB CLCNKA
2 ion transport GO:0006811 10 SLC26A3 SLC12A3 SLC12A2 SLC12A1 KCNJ10 KCNJ1
3 ion transmembrane transport GO:0034220 9.92 SLC12A1 KCNJ10 KCNJ1 CLCNKB CLCNKA CLCN5
4 regulation of ion transmembrane transport GO:0034765 9.88 KCNJ10 KCNJ1 CLCNKB CLCNKA CLCN1
5 potassium ion transport GO:0006813 9.83 SLC12A2 SLC12A1 KCNJ10 KCNJ1
6 potassium ion import across plasma membrane GO:1990573 9.77 SLC12A3 SLC12A2 SLC12A1 KCNJ10 KCNJ1
7 potassium ion transmembrane transport GO:0071805 9.76 SLC12A2 KCNJ10 KCNJ1
8 sodium ion transport GO:0006814 9.75 SLC12A3 SLC12A2 SLC12A1
9 potassium ion homeostasis GO:0055075 9.73 SLC12A3 SLC12A2 SLC12A1 KCNJ10
10 sodium ion transmembrane transport GO:0035725 9.71 SLC12A3 SLC12A2 SLC12A1
11 chloride transport GO:0006821 9.7 SLC26A3 SLC12A2 CLCNKB CLCNKA CLCN5 CLCN1
12 cell volume homeostasis GO:0006884 9.69 SLC12A3 SLC12A2 SLC12A1
13 sodium ion homeostasis GO:0055078 9.67 SLC12A3 SLC12A2 SLC12A1
14 chloride ion homeostasis GO:0055064 9.63 SLC12A3 SLC12A2 SLC12A1
15 water transport GO:0006833 9.57 AVP AQP2
16 cellular response to chemokine GO:1990869 9.56 STK39 SLC12A2
17 ion homeostasis GO:0050801 9.55 UMOD STK39
18 excretion GO:0007588 9.5 UMOD SLC26A3 KCNJ1 CLDN16 CLCNKB CLCNKA
19 chloride transmembrane transport GO:1902476 9.32 SLC26A3 SLC12A3 SLC12A2 SLC12A1 CLCNKB CLCNKA

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

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.63 SLC12A3 SLC12A2 SLC12A1
2 potassium:chloride symporter activity GO:0015379 9.58 SLC12A3 SLC12A2 SLC12A1
3 cation:chloride symporter activity GO:0015377 9.54 SLC12A3 SLC12A2 SLC12A1
4 sodium ion transmembrane transporter activity GO:0015081 9.5 SLC12A3 SLC12A2 SLC12A1
5 inward rectifier potassium channel activity GO:0005242 9.48 KCNJ10 KCNJ1
6 ATP-activated inward rectifier potassium channel activity GO:0015272 9.43 KCNJ10 KCNJ1
7 sodium:chloride symporter activity GO:0015378 9.43 SLC12A3 SLC12A2 SLC12A1
8 chloride channel activity GO:0005254 9.35 CLCNKB CLCNKA CLCN5 CLCN1 BSND
9 sodium:potassium:chloride symporter activity GO:0008511 9.33 SLC12A3 SLC12A2 SLC12A1
10 voltage-gated chloride channel activity GO:0005247 8.92 CLCNKB CLCNKA CLCN5 CLCN1

Sources for Bartter Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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