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MCID: BRT004
MIFTS: 58

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 43 15 71
Bartter Syndrome 20 43 58 36 29 6 44
Bartter's Syndrome 12 20 43
Aldosteronism with Hyperplasia of the Adrenal Cortex 12 43
Renal Tubular Normotensive Hypokalemic Alkalosis with Hypercalciuria 58
Juxtaglomerular Hyperplasia with Secondary Aldosteronism 43
Salt-Losing Tubular Disorder, Henle's Loop Type 58
Salt-Wasting Tubulopathy, Henle's Loop Type 58
Hypokalemic Alkalosis with Hypercalciuria 20
Potassium Wasting 20
Bartters Syndrome 54
Syndrome, Bartter 39

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:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases
Anatomical: Nephrological diseases Ear diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:445
KEGG 36 H00239
ICD9CM 34 255.13
MeSH 44 D001477
NCIt 50 C34412
SNOMED-CT 67 707742001
ICD10 32 E26.81
MESH via Orphanet 45 D001477
ICD10 via Orphanet 33 E26.8
UMLS via Orphanet 72 C0004775
Orphanet 58 ORPHA112
SNOMED-CT via HPO 68 237836003
UMLS 71 C0004775
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Summaries for Bartter Disease

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GARD : 20 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. This disease summary is from MedlinePlus Genetics, an online health information resource from the National Institutes of Health.

MalaCards based summary : Bartter Disease, also known as bartter syndrome, is related to bartter syndrome, type 4a, neonatal, with sensorineural deafness and bartter syndrome, type 2, antenatal. An important gene associated with Bartter Disease is BSND (Barttin CLCNK Type Accessory Subunit Beta), 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 Eplerenone and Chlorthalidone have been mentioned in the context of this disorder. Affiliated tissues include Kidney, cortex and adrenal cortex, and related phenotypes are short stature and abnormality of metabolism/homeostasis

MedlinePlus Genetics : 43 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.

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 (BS) is a rare inherited disease characterised by a defect in the thick ascending limb... more...

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Related Diseases for Bartter Disease

About this section

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 267)
# Related Disease Score Top Affiliating Genes
1 bartter syndrome, type 4a, neonatal, with sensorineural deafness 33.0 KCNJ1 CLCNKB BSND
2 bartter syndrome, type 2, antenatal 32.8 SLC12A1 KCNJ1 CASR
3 infantile bartter syndrome with sensorineural deafness 32.8 CLCNKB CLCNKA BSND
4 bartter syndrome, type 4b, neonatal, with sensorineural deafness 32.7 LOC106501712 CLCNKB CLCNKA
5 bartter syndrome, type 1, antenatal 32.7 SLC12A3 SLC12A1 KCNJ1 CLDN16 CASR AQP2
6 bartter syndrome, type 3 32.5 SLC12A3 SLC12A1 REN LOC106501713 KCNJ1 CLDN16
7 primary hypomagnesemia 32.2 SLC12A1 KCNJ1 CLDN16
8 nephrocalcinosis 31.4 SLC12A3 SLC12A1 KCNJ1 CLDN16 CLCNKB CLCN5
9 chondrocalcinosis 31.3 SLC12A3 REN CASR
10 sensorineural hearing loss 31.0 SLC12A2 SLC12A1 KCNJ10 KCNJ1 BSND
11 diabetes insipidus 31.0 SLC12A1 REN CLCNKB CLCNKA AQP2
12 congenital chloride diarrhea 30.9 SLC26A3 REN
13 pseudohyperkalemia, familial, 2, due to red cell leak 30.8 REN KCNJ1 CLCN5
14 diabetes insipidus, nephrogenic, autosomal 30.7 SLC12A3 SLC12A1 REN KCNJ1 CLCNKB CLCNKA
15 proteinuria, chronic benign 30.7 REN LOC106501713 CLCN5
16 gitelman syndrome 30.7 STK39 SLC12A3 SLC12A2 SLC12A1 REN KCNJ10
17 hypercalciuria, absorptive, 2 30.7 KCNJ1 CLDN16 CLCN5 CASR
18 cystic kidney disease 30.6 UMOD REN AQP2
19 kidney disease 30.6 UMOD SLC12A3 SLC12A1 REN CLCN5 CASR
20 nephrolithiasis 30.5 UMOD SLC12A1 KCNJ1 CLDN16 CLCNKB CLCN5
21 hypokalemia 30.5 SLC12A3 SLC12A1 REN KCNJ10 KCNJ1 CLCNKB
22 hydronephrosis 30.5 SLC12A1 REN AQP2
23 antenatal bartter syndrome 30.4 SLC12A1 REN MAGED2 KCNJ1 BSND
24 hypocalcemia, autosomal dominant 1 30.4 CLDN16 CLCNKB CASR BSND
25 hypokalemic periodic paralysis, type 1 30.4 SLC12A3 KCNJ1 CLCN1
26 pseudohypoaldosteronism 30.4 SLC12A3 REN KCNJ1
27 placenta disease 30.4 SLC12A1 REN KCNJ1
28 pendred syndrome 30.4 SLC26A3 SLC12A3 KCNJ10 AQP2
29 hypertension, essential 30.4 UMOD STK39 SLC12A3 SLC12A2 SLC12A1 REN
30 polyhydramnios 30.3 SLC26A3 SLC12A3 SLC12A1 MAGED2 KCNJ1 CLCNKB
31 liddle syndrome 1 30.3 STK39 SLC12A3 SLC12A1 REN KCNJ1 CLCNKB
32 inappropriate adh syndrome 30.2 REN AQP2
33 dent disease 1 30.2 SLC12A1 KCNJ1 CLDN16 CLCNKB CLCNKA CLCN5
34 bartter syndrome, type 5, antenatal, transient 11.3
35 fanconi renotubular syndrome 1 11.0
36 thyrotoxic periodic paralysis 11.0
37 diarrhea 1, secretory chloride, congenital 11.0
38 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia 11.0
39 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.0
40 conn's syndrome 10.7
41 autosomal dominant tubulointerstitial kidney disease - ren 10.5 UMOD REN
42 autosomal dominant tubulointerstitial kidney disease 10.5 UMOD REN
43 idiopathic hypercalciuria 10.5 REN CLCN5 CASR
44 orofaciodigital syndrome x 10.5 CLCNKA BSND
45 hypomagnesemia 5, renal, with or without ocular involvement 10.5 SLC12A1 KCNJ1 CLDN16 BSND
46 tubulointerstitial kidney disease, autosomal dominant, 1 10.5 UMOD SLC12A1 REN
47 agenesis of the corpus callosum with peripheral neuropathy 10.5 STK39 SLC12A2 SLC12A1
48 mitochondrial dna depletion syndrome 12a 10.5 LOC106501713 CLCNKB
49 congenital anomalies of kidney and urinary tract 2 10.5 UMOD REN AQP2
50 myotonia congenita 10.5 CLCNKB CLCNKA CLCN5 CLCN1

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:

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

MGI Mouse Phenotypes related to Bartter Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.97 AQP2 BSND CASR CLCN1 CLCN5 CLCNKA
2 homeostasis/metabolism MP:0005376 9.89 AQP2 BSND CASR CLCN1 CLCN5 CLCNKA
3 renal/urinary system MP:0005367 9.47 AQP2 BSND CASR CLCN5 CLCNKA CLCNKB
Sources

Drugs & Therapeutics for Bartter Disease

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

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Eplerenone Approved Phase 4 107724-20-9 150310 443872
2
Chlorthalidone Approved Phase 4 77-36-1 2732
3 diuretics Phase 4
4 Hormones Phase 4
5 Hormone Antagonists Phase 4
6 Sodium Chloride Symporter Inhibitors Phase 4
7 Mineralocorticoid Receptor Antagonists Phase 4
8 Antihypertensive Agents Phase 4
9 Diuretics, Potassium Sparing Phase 4
10 Mineralocorticoids Phase 4
11 Sodium Channel Blockers Phase 4
12
Acetazolamide Approved, Vet_approved 59-66-5 1986
13
Parathyroid hormone Approved, Investigational 9002-64-6
14
Spironolactone Approved 1952-01-7, 52-01-7 5833
15 Anticonvulsants
16 Carbonic Anhydrase Inhibitors
17 Calcium, Dietary
18
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Aldosterone, the Mineralocorticoid Receptor, and Cardiovascular Disease in Obesity Recruiting NCT04519164 Phase 4 Eplerenone;Chlorthalidone with potassium chloride
2 Acetazolamide (AZ) for Management of Refractory Hypokalemia Metabolic Alkalosis in Bartter Syndrome Unknown status NCT03847571 Acetazolamide
3 Case-control Study of the PTH Homeostasis in Adolescents and Young Adults With Bartter Syndrome Unknown status NCT01021280
4 Spironolactone to Decrease Potassium Wasting in Hypercalciuric Patients Treated With Thiazide Diuretics Completed NCT00276289 Spironolactone

Search NIH Clinical Center for Bartter Disease

Inferred drug relations via UMLS 71 / 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:

40
Kidney, Cortex, Adrenal Cortex, Bone, Thymus, Pancreas
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

About this section

Articles related to Bartter Disease:

(show top 50) (show all 746)
# 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. 54 61 6
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. 61 6 54
12574213 2003
3
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. 6 54 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. 61 54 6
9727001 1998
5
Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K+ channel function. 6 54 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. 6 61 54
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. 6 54
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. 6 54
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. 20 61
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
A highly conserved motif at the COOH terminus dictates endoplasmic reticulum exit and cell surface expression of NKCC2. 61 54
19535327 2009
27
Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. 54 61
19646679 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. 54 61
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. 54 61
18443236 2008
33
Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance. 54 61
18094726 2008
34
Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1. 61 54
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. 61 54
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. 61 54
16391491 2006
45
A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain. 61 54
15875219 2005
46
Expression of the potassium channel ROMK in adult and fetal human kidney. 54 61
15895241 2005
47
Renal tubular transport and the genetic basis of hypertensive disease. 61 54
15980941 2005
48
Dimeric architecture of the human bumetanide-sensitive Na-K-Cl Co-transporter. 54 61
14638903 2003
49
Bartter syndrome complicated by immune complex nephropathy. Case report and literature review. 61 54
12836094 2003
50
The neonatal variant of Bartter syndrome and deafness: preservation of renal function. 61 54
12949294 2003
Sources

Variations for Bartter Disease

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ClinVar genetic disease variations for Bartter Disease:

6 (show top 50) (show all 293)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LOC106501712 NM_004070.4(CLCNKA):c.240G>C (p.Trp80Cys) SNV Pathogenic 7589 rs121909137 1:16351268-16351268 1:16024773-16024773
2 LOC106501712 NM_004070.4(CLCNKA):c.778C>T (p.Gln260Ter) SNV Pathogenic 7590 rs121909138 1:16353927-16353927 1:16027432-16027432
3 LOC106501713 NM_000085.4(CLCNKB):c.371C>T (p.Pro124Leu) SNV Pathogenic 7591 rs121909131 1:16374412-16374412 1:16047917-16047917
4 LOC106501713 NM_000085.4(CLCNKB):c.1046C>A (p.Ala349Asp) SNV Pathogenic 7594 rs121909134 1:16377088-16377088 1:16050593-16050593
5 LOC106501713 NM_000085.4(CLCNKB):c.1294T>C (p.Tyr432His) SNV Pathogenic 7595 rs121909135 1:16378039-16378039 1:16051544-16051544
6 CLCNKB CLCNKB, DEL Deletion Pathogenic 7596
7 LOC106501713 NM_000085.4(CLCNKB):c.1783C>T (p.Arg595Ter) SNV Pathogenic 447098 rs370221310 1:16381956-16381956 1:16055461-16055461
8 LOC106501713 NM_000085.5(CLCNKB):c.782-2A>G SNV Pathogenic 7597 rs779908241 1:16376111-16376111 1:16049616-16049616
9 LOC106501713 NM_000085.5(CLCNKB):c.673G>T (p.Glu225Ter) SNV Pathogenic 801446 rs1570334344 1:16375632-16375632 1:16049137-16049137
10 LOC106501713 NM_000085.5(CLCNKB):c.708C>A (p.Tyr236Ter) SNV Pathogenic 801447 rs201781905 1:16375667-16375667 1:16049172-16049172
11 LOC106501713 NM_000085.5(CLCNKB):c.910C>T (p.Arg304Ter) SNV Pathogenic 801448 rs377215024 1:16376353-16376353 1:16049858-16049858
12 LOC106501713 NM_000085.5(CLCNKB):c.1560T>G (p.Tyr520Ter) SNV Pathogenic 801451 rs1570341086 1:16378844-16378844 1:16052349-16052349
13 LOC106501713 NM_000085.5(CLCNKB):c.1325A>G (p.Glu442Gly) SNV Pathogenic 804713 rs1180658535 1:16378232-16378232 1:16051737-16051737
14 MAGED2 NM_177433.3(MAGED2):c.384_385TG[1] (p.Val129fs) Microsatellite Pathogenic 226033 rs878854406 X:54836493-54836494 X:54810060-54810061
15 LOC106501713 NM_000085.4(CLCNKB):c.1381dup (p.Ile461fs) Duplication Pathogenic 369968 rs1057516207 1:16378287-16378288 1:16051792-16051793
16 CLCNKB NM_000085.4(CLCNKB):c.18dup (p.Leu7fs) Duplication Pathogenic 585704 rs953686324 1:16371001-16371002 1:16044506-16044507
17 LOC106501713 NM_000085.5(CLCNKB):c.656-31del Deletion Pathogenic 638508 rs751608665 1:16375584-16375584 1:16049089-16049089
18 LOC106501713 NM_000085.5(CLCNKB):c.1309G>A (p.Gly437Arg) SNV Pathogenic 801449 rs755714542 1:16378216-16378216 1:16051721-16051721
19 LOC106501713 NM_000085.5(CLCNKB):c.1389del (p.Tyr466fs) Deletion Pathogenic 930786 1:16378296-16378296 1:16051801-16051801
20 CLCNKB NM_000085.5:c.(?_-1)_(*1_?)del Deletion Pathogenic 974551
21 SLC12A1 NM_000338.3(SLC12A1):c.724+4A>G SNV Pathogenic 8755 rs774515747 15:48518772-48518772 15:48226575-48226575
22 SLC12A1 NM_000338.3(SLC12A1):c.2095del (p.Asp699fs) Deletion Pathogenic 8756 rs1057519608 15:48551448-48551448 15:48259251-48259251
23 SLC12A1 NM_000338.3(SLC12A1):c.1522G>A (p.Ala508Thr) SNV Pathogenic 242488 rs765347751 15:48539175-48539175 15:48246978-48246978
24 SLC12A1 NM_000338.3(SLC12A1):c.1163del (p.Phe388fs) Deletion Pathogenic 265999 rs779588655 15:48527143-48527143 15:48234946-48234946
25 CLCNKB GRCh37/hg19 1p36.13(chr1:16372179-16388605) copy number loss Pathogenic 915980 1:16372179-16388605
26 SLC12A1 NM_000338.3(SLC12A1):c.1833del (p.Phe611fs) Deletion Pathogenic 378051 rs1057520304 15:48543854-48543854 15:48251657-48251657
27 SLC12A1 NM_000338.3(SLC12A1):c.1883C>A (p.Ala628Asp) SNV Pathogenic 378048 rs1057520301 15:48543908-48543908 15:48251711-48251711
28 SLC12A1 NM_000338.3(SLC12A1):c.1137del (p.Phe380fs) Deletion Pathogenic 378047 rs1057520300 15:48527123-48527123 15:48234926-48234926
29 SLC12A1 NM_000338.3(SLC12A1):c.2787dup (p.Thr931fs) Duplication Pathogenic 378049 rs1057520302 15:48580626-48580627 15:48288429-48288430
30 SLC12A1 NM_001184832.2(SLC12A1):c.2494_2495GA[2] (p.Arg833fs) Microsatellite Pathogenic 378050 rs1057520303 15:48577310-48577311 15:48285113-48285114
31 KCNJ1 NM_000220.5(KCNJ1):c.237C>G (p.Tyr79Ter) SNV Pathogenic 9153 rs104894244 11:128709959-128709959 11:128840064-128840064
32 KCNJ1 KCNJ1, 1-BP INS, CODON 15 Insertion Pathogenic 9154
33 KCNJ1 NM_000220.5(KCNJ1):c.657C>G (p.Ser219Arg) SNV Pathogenic 9155 rs104894245 11:128709539-128709539 11:128839644-128839644
34 KCNJ1 KCNJ1, TRP58TER Variation Pathogenic 9156
35 KCNJ1 NM_000220.5(KCNJ1):c.641C>T (p.Ala214Val) SNV Pathogenic 9157 rs104894246 11:128709555-128709555 11:128839660-128839660
36 KCNJ1 NM_000220.5(KCNJ1):c.1070T>C (p.Met357Thr) SNV Pathogenic 9158 rs59172778 11:128709126-128709126 11:128839231-128839231
37 KCNJ1 NM_000220.5(KCNJ1):c.592G>A (p.Ala198Thr) SNV Pathogenic 9159 rs104894253 11:128709604-128709604 11:128839709-128839709
38 KCNJ1 NM_000220.5(KCNJ1):c.500G>A (p.Gly167Glu) SNV Pathogenic 9160 rs104894254 11:128709696-128709696 11:128839801-128839801
39 KCNJ1 NM_000220.5(KCNJ1):c.322G>C (p.Asp108His) SNV Pathogenic 9161 rs104894250 11:128709874-128709874 11:128839979-128839979
40 KCNJ1 NM_000220.5(KCNJ1):c.372T>A (p.Asn124Lys) SNV Pathogenic 9162 rs104894251 11:128709824-128709824 11:128839929-128839929
41 BSND NM_057176.3(BSND):c.139G>A (p.Gly47Arg) SNV Pathogenic 4387 rs74315289 1:55464998-55464998 1:54999325-54999325
42 BSND NM_057176.3(BSND):c.23G>T (p.Arg8Leu) SNV Pathogenic 4386 rs74315288 1:55464882-55464882 1:54999209-54999209
43 BSND NM_057176.3(BSND):c.28G>A (p.Gly10Ser) SNV Pathogenic 4385 rs74315287 1:55464887-55464887 1:54999214-54999214
44 BSND BSND, EX3-EX4 DEL Deletion Pathogenic 4383
45 BSND BSND, IVS1, 41-BP DEL Deletion Pathogenic 4382
46 BSND NM_057176.3(BSND):c.22C>T (p.Arg8Trp) SNV Pathogenic 4381 rs74315285 1:55464881-55464881 1:54999208-54999208
47 BSND NM_057176.3(BSND):c.1A>T (p.Met1Leu) SNV Pathogenic 4380 rs74315284 1:55464860-55464860 1:54999187-54999187
48 SLC12A1 NM_000338.3(SLC12A1):c.1875G>A (p.Trp625Ter) SNV Pathogenic 8754 rs137853159 15:48543900-48543900 15:48251703-48251703
49 SLC12A1 NM_000338.3(SLC12A1):c.814G>T (p.Val272Phe) SNV Pathogenic 8753 rs137853158 15:48521475-48521475 15:48229278-48229278
50 SLC12A1 NM_000338.3(SLC12A1):c.1942G>A (p.Asp648Asn) SNV Pathogenic 8752 rs137853157 15:48543967-48543967 15:48251770-48251770
Sources

Expression for Bartter Disease

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

Pathways for Bartter Disease

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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
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 65
Show member pathways
 12.78 SLC26A3 SLC12A3 SLC12A2 SLC12A1 CLCNKB CLCNKA
2
Neuropathic Pain-Signaling in Dorsal Horn Neurons 63
Show member pathways
 12.31 SLC12A3 SLC12A2 SLC12A1 CLCN5 CLCN1
3
Ion channel transport 65
Show member pathways
 12.15 CLCNKB CLCNKA CLCN5 CLCN1 BSND
4
Salivary secretion 36
Show member pathways
 12.1 SLC26A3 SLC12A2 KCNJ10 KCNJ1
5
Hepatic ABC Transporters 63
Show member pathways
 11.55 CLCNKB CLCNKA CLCN5 CLCN1
6
Diuretics Pathway, Pharmacodynamics 60
10.63 STK39 SLC12A3 SLC12A1 KCNJ1 CLCNKB CLCNKA
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 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 integral component of plasma membrane GO:0005887 9.9 SLC26A3 SLC12A3 SLC12A2 KCNJ10 CLCNKB CLCNKA
5 chloride channel complex GO:0034707 9.58 CLCNKB CLCNKA CLCN1
6 basolateral plasma membrane GO:0016323 9.5 UMOD STK39 SLC12A2 KCNJ10 CASR BSND
7 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 21)
# 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 9.89 KCNJ10 KCNJ1 CLCNKB CLCNKA CLCN1
5 potassium ion transport GO:0006813 9.83 SLC12A2 SLC12A1 KCNJ10 KCNJ1
6 potassium ion transmembrane transport GO:0071805 9.77 SLC12A2 KCNJ10 KCNJ1
7 sodium ion transport GO:0006814 9.77 SLC12A3 SLC12A2 SLC12A1
8 potassium ion import across plasma membrane GO:1990573 9.77 SLC12A3 SLC12A2 SLC12A1 KCNJ10 KCNJ1
9 sodium ion homeostasis GO:0055078 9.76 UMOD SLC12A3 SLC12A2 SLC12A1
10 sodium ion transmembrane transport GO:0035725 9.73 SLC12A3 SLC12A2 SLC12A1
11 potassium ion homeostasis GO:0055075 9.73 SLC12A3 SLC12A2 SLC12A1 KCNJ10
12 chloride transport GO:0006821 9.7 SLC26A3 SLC12A2 CLCNKB CLCNKA CLCN5 CLCN1
13 cell volume homeostasis GO:0006884 9.69 SLC12A3 SLC12A2 SLC12A1
14 chloride ion homeostasis GO:0055064 9.65 SLC12A3 SLC12A2 SLC12A1
15 cellular sodium ion homeostasis GO:0006883 9.58 UMOD SLC12A2
16 ion homeostasis GO:0050801 9.58 UMOD STK39
17 cellular response to chemokine GO:1990869 9.57 STK39 SLC12A2
18 cellular chloride ion homeostasis GO:0030644 9.55 UMOD SLC12A2
19 renal sodium ion absorption GO:0070294 9.54 UMOD MAGED2
20 excretion GO:0007588 9.5 UMOD SLC26A3 KCNJ1 CLDN16 CLCNKB CLCNKA
21 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 voltage-gated ion channel activity GO:0005244 9.77 KCNJ10 KCNJ1 CLCNKB CLCNKA CLCN1
2 symporter activity GO:0015293 9.61 SLC12A3 SLC12A2 SLC12A1
3 chloride channel activity GO:0005254 9.55 CLCNKB CLCNKA CLCN5 CLCN1 BSND
4 potassium:chloride symporter activity GO:0015379 9.5 SLC12A3 SLC12A2 SLC12A1
5 inward rectifier potassium channel activity GO:0005242 9.46 KCNJ10 KCNJ1
6 cation:chloride symporter activity GO:0015377 9.43 SLC12A3 SLC12A2 SLC12A1
7 ATP-activated inward rectifier potassium channel activity GO:0015272 9.4 KCNJ10 KCNJ1
8 sodium:potassium:chloride symporter activity GO:0008511 9.13 SLC12A3 SLC12A2 SLC12A1
9 voltage-gated chloride channel activity GO:0005247 8.92 CLCNKB CLCNKA CLCN5 CLCN1
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
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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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