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MCID: BRT004
MIFTS: 53

Bartter Disease

Categories: Blood diseases, Ear diseases, Endocrine 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 39 12 26 15 74
Bartter Syndrome 54 26 60 38 30 6 45
Bartter's Syndrome 12 54 26
Aldosteronism with Hyperplasia of the Adrenal Cortex 12 26
Renal Tubular Normotensive Hypokalemic Alkalosis with Hypercalciuria 60
Juxtaglomerular Hyperplasia with Secondary Aldosteronism 26
Salt-Losing Tubular Disorder, Henle's Loop Type 60
Salt-Wasting Tubulopathy, Henle's Loop Type 60
Hypokalemic Alkalosis with Hypercalciuria 54
Potassium Wasting 54
Bartters Syndrome 56

Characteristics:

Orphanet epidemiological data:

60
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 Endocrine diseases Blood diseases Ear diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:445
KEGG 38 H00239
ICD9CM 36 255.13
MeSH 45 D001477
NCIt 51 C34412
SNOMED-CT 69 71275003
ICD10 34 E26.81
MESH via Orphanet 46 D001477
ICD10 via Orphanet 35 E26.8
UMLS via Orphanet 75 C0004775
Orphanet 60 ORPHA112
SNOMED-CT via HPO 70 237836003
UMLS 74 C0004775
Sources

Summaries for Bartter Disease

About this section
NIH Rare Diseases : 54 Bartter syndromeis 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.

MalaCards based summary : Bartter Disease, also known as bartter syndrome, is related to infantile bartter syndrome with sensorineural deafness and bartter syndrome, type 2, antenatal. An important gene associated with Bartter Disease is KCNJ1 (Potassium Voltage-Gated 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 cortex, and related phenotypes are short stature and abnormality of metabolism/homeostasis

Genetics Home Reference : 26 Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body.

Wikipedia : 77 Bartter syndrome is a rare inherited defect in the thick ascending limb of the loop of Henle. It is... more...

Sources

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 123)
# Related Disease Score Top Affiliating Genes
1 infantile bartter syndrome with sensorineural deafness 33.2 BSND CLCNKA CLCNKB
2 bartter syndrome, type 2, antenatal 32.9 CASR KCNJ1
3 bartter syndrome, type 4b, neonatal, with sensorineural deafness 32.5 CLCNKA CLCNKB
4 bartter syndrome, type 3 31.9 BSND CLCNKB KCNJ1 REN SLC12A1 SLC12A3
5 chondrocalcinosis 30.4 CASR SLC12A3
6 polyhydramnios 30.2 CLCNKB KCNJ1 SLC12A1
7 renal hypertension 30.0 REN SLC12A3
8 pseudohypoaldosteronism 29.9 KCNJ1 REN SLC12A3
9 antenatal bartter syndrome 29.9 BSND KCNJ1 REN SLC12A1
10 diabetes insipidus 29.5 CLCNKA REN SLC12A1
11 dent disease 1 29.3 CLCN5 CLCNKA CLCNKB
12 diabetes insipidus, nephrogenic, autosomal 29.3 CASR CLCNKA SLC12A1
13 kidney disease 29.2 CASR CLCN5 REN UMOD
14 hypokalemia 29.1 BSND CLCNKB KCNJ1 REN SLC12A1 SLC12A3
15 nephrocalcinosis 29.0 CASR CLCN5 CLCNKB KCNJ1 SLC12A1 SLC12A3
16 gitelman syndrome 28.6 BSND CASR CLCNKB KCNJ1 REN SLC12A1
17 nephrolithiasis 28.3 BSND CASR CLCN5 CLCNKB KCNJ1 SLC12A1
18 bartter syndrome type 4 12.6
19 bartter syndrome, type 1, antenatal 11.8
20 bartter syndrome, type 4a, neonatal, with sensorineural deafness 11.8
21 bartter syndrome, type 5, antenatal, transient 11.7
22 renal tubular acidosis, distal 11.4
23 diarrhea 1, secretory chloride, congenital 11.4
24 fanconi renotubular syndrome 1 11.1
25 thyrotoxic periodic paralysis 11.1
26 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia 11.1
27 primary hypomagnesemia 11.1
28 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.1
29 syndrome of inappropriate antidiuretic hormone 11.0
30 arthrogryposis, distal, type 3 10.2 REN SLC12A3
31 pseudohyperkalemia, familial, 2, due to red cell leak 10.2 KCNJ1 REN
32 diarrhea 10.2
33 cystic fibrosis 10.1
34 focal segmental glomerulosclerosis 1 10.1
35 congenital chloride diarrhea 10.1
36 focal segmental glomerulosclerosis 10.1
37 cholelithiasis 10.1
38 intracranial hypertension, idiopathic 10.1
39 renal tubular acidosis 10.1
40 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 10.1 KCNJ1 SLC12A3
41 hypercalciuria, absorptive, 2 10.0 CASR CLCN5
42 vesicoureteral reflux 1 10.0 REN UMOD
43 cystinosis, nephropathic 10.0
44 xanthinuria, type i 10.0 CASR UMOD
45 amelogenesis imperfecta 10.0
46 rickets 10.0
47 gout 10.0
48 eating disorder 10.0
49 deafness, autosomal recessive 96 10.0 CLCNKA CLCNKB
50 leptospirosis 10.0

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



Diseases related to Bartter Disease
Sources

Symptoms & Phenotypes for Bartter Disease

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Human phenotypes related to Bartter Disease:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
2 abnormality of metabolism/homeostasis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001939

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

27 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.58 SLC12A3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-106 9.58 SLC12A3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.58 SLC12A1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.58 SLC12A3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.58 SLC12A3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.58 SLC12A1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.58 SLC12A1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.58 SLC12A2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.58 SLC12A2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.58 SLC12A1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.58 SLC12A1 SLC12A2 SLC12A3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-73 9.58 SLC12A2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.58 SLC12A1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-82 9.58 SLC12A2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.58 SLC12A2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.58 SLC12A3

MGI Mouse Phenotypes related to Bartter Disease:

47
# 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,Not Applicable 1952-01-7, 52-01-7 5833
2
Amphotericin B Approved, Investigational Phase 4 1397-89-3 5280965 14956
3
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
4 Hormones Phase 4,Not Applicable
5 Mineralocorticoids Phase 4,Not Applicable
6 Natriuretic Agents Phase 4,Not Applicable
7 Mineralocorticoid Receptor Antagonists Phase 4,Not Applicable
8 Hormone Antagonists Phase 4,Not Applicable
9 diuretics Phase 4,Not Applicable
10 Diuretics, Potassium Sparing Phase 4,Not Applicable
11 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Not Applicable
12 Liposomal amphotericin B Phase 4
13 Anti-Bacterial Agents Phase 4
14 Anti-Infective Agents Phase 4
15 Antiparasitic Agents Phase 4
16 Antifungal Agents Phase 4
17 Antiprotozoal Agents Phase 4
18
Parathyroid hormone Approved, Investigational 9002-64-6
19
Hydrochlorothiazide Approved, Vet_approved Not Applicable 58-93-5 3639
20
Acetazolamide Approved, Vet_approved 59-66-5 1986
21
Calcium Approved, Nutraceutical ,Not Applicable 7440-70-2 271
22 Calcium, Dietary ,Not Applicable
23 Sodium Chloride Symporter Inhibitors Not Applicable
24 Antihypertensive Agents Not Applicable
25 Carbonic Anhydrase Inhibitors
26 Anticonvulsants

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 Parathyroid Hormone (PTH) Homeostasis in Bartter Syndrome Unknown status NCT01021280
3 A Translational Approach to Gitelman Syndrome Completed NCT00822107 Not Applicable Hydrochlorothiazide
4 Spironolactone to Decrease Potassium Wasting in Hypercalciurics on Thiazides Diuretics Completed NCT00276289 Not Applicable Spironolactone
5 Acetazolamide (AZ) for Management of Alkalosis in Bartter Syndrome Recruiting NCT03847571 Acetazolamide
6 Comparison of the Impact of Diet vs Thiazide in BMD in Children With Idiopathic Hypercalciuria Recruiting NCT03951558 Not Applicable Hydrochlorothiazide

Search NIH Clinical Center for Bartter Disease

Inferred drug relations via UMLS 74 / NDF-RT 52 :


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 30
Sources

Anatomical Context for Bartter Disease

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MalaCards organs/tissues related to Bartter Disease:

42
Kidney, Cortex, Bone, Adrenal Cortex, Brain, Lung
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 267)
# Title Authors Year
1
Growth hormone deficiency in children with antenatal Bartter syndrome. ( 30844761 )
2019
2
A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I. ( 30977917 )
2019
3
Genetic screening for Bartter syndrome and Gitelman syndrome pathogenic genes among individuals with hypertension and hypokalemia. ( 29953267 )
2019
4
Bartter Syndrome and Gitelman Syndrome. ( 30454738 )
2019
5
A novel differential diagnosis to nonobstructive diffuse and dilated bowel loops with polyhydramnios: Bartter syndrome. ( 30246465 )
2019
6
Association of Mucopolysaccharidosis Type 4A and Bartter Syndrome. ( 30851722 )
2019
7
Effect of nonsteroidal anti-inflammatory drugs in children with Bartter syndrome. ( 30426218 )
2019
8
Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis. ( 30760291 )
2019
9
Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I. ( 30790175 )
2019
10
Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome. ( 29146702 )
2018
11
Clinical characterization and diagnosis of cystic fibrosis through exome sequencing in Chinese infants with Bartter-syndrome-like hypokalemia alkalosis. ( 29520692 )
2018
12
Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation. ( 29421779 )
2018
13
Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus. ( 29527380 )
2018
14
Bartter syndrome and growth hormone deficiency: Three siblings with a novel CLCNKB mutation. ( 30387909 )
2018
15
Osteomalacia in a Case of Adult-Onset Bartter Syndrome. ( 30756015 )
2018
16
Bartter Syndrome Type 3: Phenotype-Genotype Correlation and Favorable Response to Ibuprofen. ( 29900164 )
2018
17
Novel compound heterozygous CLCNKB gene mutations (c.1755A>G/c.848_850delTCT) cause classic Bartter syndrome. ( 29442545 )
2018
18
Bartter syndrome-like phenotype in a patient with diabetes: a case report. ( 30115098 )
2018
19
Two neonates with Bartter syndrome. ( 30410160 )
2018
20
Bartter syndrome: causes, diagnosis, and treatment. ( 30519073 )
2018
21
A novel variant in the SLC12A1 gene in two families with antenatal Bartter syndrome. ( 27748541 )
2017
22
Cisplatin Therapy Does Not Worsen Renal Function in Severe Antenatal Bartter Syndrome. ( 28612006 )
2017
23
Antenatal Bartter syndrome presenting with vomiting and constipation mimicking subacute intestinal obstruction in a 20-day-old neonate. ( 29141924 )
2017
24
Pseudo-Bartter Syndrome in a Chinese Infant with Cystic Fibrosis Caused by c.532G>A Mutation in CFTR. ( 29133775 )
2017
25
Pseudo-Bartter syndrome as the sole manifestation of cystic fibrosis in a child with 711+G>T/IVS8-5T mutation: a new face of an old disease. ( 28751295 )
2017
26
Bartter Syndrome with Nephrogenic Diabetes Insipidus and Vitamin D Resistant Rickets. ( 28285303 )
2017
27
Clinical and Genetic Spectrum of Bartter Syndrome Type 3. ( 28381550 )
2017
28
Paving the way for Bartter syndrome type 3 drug discovery: a hope from basic research. ( 28598505 )
2017
29
Rectal Cancer in a Patient with Bartter Syndrome: A Case Report. ( 28498361 )
2017
30
Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome. ( 28288174 )
2017
31
Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone. ( 28377333 )
2017
32
Endoplasmic reticulum-associated degradation of the renal potassium channel, ROMK, leads to type II Bartter syndrome. ( 28630040 )
2017
33
Neonatal bartter syndrome in an extremely low birth weight baby. ( 28937079 )
2017
34
Late-onset Bartter syndrome type II. ( 28979772 )
2017
35
Maternal Pseudo-Bartter Syndrome Associated with Severe Perinatal Brain Injury. ( 28984259 )
2017
36
Mutation spectrum of Chinese patients with Bartter syndrome. ( 29254190 )
2017
37
Genetic heterogeneity in patients with Bartter syndrome type 1. ( 28000888 )
2017
38
Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV. ( 28012523 )
2017
39
Antenatal Bartter syndrome resembling nephrogenic diabetes insipidus in a 5-year-old boy. ( 25935500 )
2016
40
Renal physiology: MAGED2 mutations in transient antenatal Bartter syndrome. ( 27181088 )
2016
41
Diagnosis of antenatal Bartter syndrome. ( 27328514 )
2016
42
Fetal urine biochemistry in antenatal Bartter syndrome: a case report. ( 27648267 )
2016
43
Neonatal Bartter syndrome with cholelithiasis and hydrocephalus: Rare association. ( 27682612 )
2016
44
Bartter syndrome associated with nephropathic cystinosis. ( 28096565 )
2016
45
Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics. ( 25880437 )
2016
46
Accentuated hyperparathyroidism in type II Bartter syndrome. ( 26857709 )
2016
47
Neonatal Bartter Syndrome in association with congenital adrenal hyperplasia in a neonate - a rare combination. ( 27183948 )
2016
48
Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone. ( 26528764 )
2016
49
An Adult Case of Bartter Syndrome Type III Presenting with Proteinuria. ( 26755355 )
2016
50
Acute Psychosis in Two Patients with Bartter Syndrome. ( 26779748 )
2016
Sources

Variations for Bartter Disease

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ClinVar genetic disease variations for Bartter Disease:

6 (show all 42)
# Gene Variation Type Significance SNP ID Assembly Location
1 BSND NM_057176.3(BSND): c.127G> A (p.Val43Ile) single nucleotide variant Benign/Likely benign rs34561376 GRCh37 Chromosome 1, 55464986: 55464986
2 BSND NM_057176.3(BSND): c.127G> A (p.Val43Ile) single nucleotide variant Benign/Likely benign rs34561376 GRCh38 Chromosome 1, 54999313: 54999313
3 BSND NM_057176.3(BSND): c.177+11G> A single nucleotide variant Benign/Likely benign rs78904893 GRCh37 Chromosome 1, 55465047: 55465047
4 BSND NM_057176.3(BSND): c.177+11G> A single nucleotide variant Benign/Likely benign rs78904893 GRCh38 Chromosome 1, 54999374: 54999374
5 BSND NM_057176.3(BSND): c.189C> T (p.Val63=) single nucleotide variant Conflicting interpretations of pathogenicity rs144505461 GRCh37 Chromosome 1, 55470706: 55470706
6 BSND NM_057176.3(BSND): c.189C> T (p.Val63=) single nucleotide variant Conflicting interpretations of pathogenicity rs144505461 GRCh38 Chromosome 1, 55005033: 55005033
7 BSND NM_057176.3(BSND): c.63C> T (p.Leu21=) single nucleotide variant Conflicting interpretations of pathogenicity rs141611486 GRCh37 Chromosome 1, 55464922: 55464922
8 BSND NM_057176.3(BSND): c.63C> T (p.Leu21=) single nucleotide variant Conflicting interpretations of pathogenicity rs141611486 GRCh38 Chromosome 1, 54999249: 54999249
9 BSND NM_057176.3(BSND): c.924G> A (p.Pro308=) single nucleotide variant Benign/Likely benign rs33938617 GRCh37 Chromosome 1, 55474262: 55474262
10 BSND NM_057176.3(BSND): c.924G> A (p.Pro308=) single nucleotide variant Benign/Likely benign rs33938617 GRCh38 Chromosome 1, 55008589: 55008589
11 BSND NM_057176.3(BSND): c.102C> T (p.Tyr34=) single nucleotide variant Conflicting interpretations of pathogenicity rs141403253 GRCh38 Chromosome 1, 54999288: 54999288
12 BSND NM_057176.3(BSND): c.102C> T (p.Tyr34=) single nucleotide variant Conflicting interpretations of pathogenicity rs141403253 GRCh37 Chromosome 1, 55464961: 55464961
13 BSND NM_057176.3(BSND): c.309G> C (p.Glu103Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs200246335 GRCh38 Chromosome 1, 55007033: 55007033
14 BSND NM_057176.3(BSND): c.309G> C (p.Glu103Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs200246335 GRCh37 Chromosome 1, 55472706: 55472706
15 BSND NM_057176.3(BSND): c.-241G> A single nucleotide variant Likely benign rs12069526 GRCh38 Chromosome 1, 54998946: 54998946
16 BSND NM_057176.3(BSND): c.-241G> A single nucleotide variant Likely benign rs12069526 GRCh37 Chromosome 1, 55464619: 55464619
17 BSND NM_057176.3(BSND): c.-117T> C single nucleotide variant Benign rs2500340 GRCh38 Chromosome 1, 54999070: 54999070
18 BSND NM_057176.3(BSND): c.-117T> C single nucleotide variant Benign rs2500340 GRCh37 Chromosome 1, 55464743: 55464743
19 BSND NM_057176.3(BSND): c.-25C> T single nucleotide variant Conflicting interpretations of pathogenicity rs188418228 GRCh38 Chromosome 1, 54999162: 54999162
20 BSND NM_057176.3(BSND): c.-25C> T single nucleotide variant Conflicting interpretations of pathogenicity rs188418228 GRCh37 Chromosome 1, 55464835: 55464835
21 BSND NM_057176.3(BSND): c.696G> A (p.Arg232=) single nucleotide variant Uncertain significance rs886046424 GRCh38 Chromosome 1, 55008361: 55008361
22 BSND NM_057176.3(BSND): c.696G> A (p.Arg232=) single nucleotide variant Uncertain significance rs886046424 GRCh37 Chromosome 1, 55474034: 55474034
23 BSND NM_057176.3(BSND): c.*94A> G single nucleotide variant Likely benign rs80300625 GRCh38 Chromosome 1, 55008722: 55008722
24 BSND NM_057176.3(BSND): c.*94A> G single nucleotide variant Likely benign rs80300625 GRCh37 Chromosome 1, 55474395: 55474395
25 BSND NM_057176.3(BSND): c.-70C> G single nucleotide variant Benign rs2500341 GRCh38 Chromosome 1, 54999117: 54999117
26 BSND NM_057176.3(BSND): c.-70C> G single nucleotide variant Benign rs2500341 GRCh37 Chromosome 1, 55464790: 55464790
27 BSND NM_057176.3(BSND): c.604G> A (p.Asp202Asn) single nucleotide variant Uncertain significance rs886046423 GRCh38 Chromosome 1, 55008269: 55008269
28 BSND NM_057176.3(BSND): c.604G> A (p.Asp202Asn) single nucleotide variant Uncertain significance rs886046423 GRCh37 Chromosome 1, 55473942: 55473942
29 BSND NM_057176.3(BSND): c.216C> A (p.Ile72=) single nucleotide variant Uncertain significance rs755897497 GRCh38 Chromosome 1, 55005060: 55005060
30 BSND NM_057176.3(BSND): c.216C> A (p.Ile72=) single nucleotide variant Uncertain significance rs755897497 GRCh37 Chromosome 1, 55470733: 55470733
31 BSND NM_057176.3(BSND): c.713T> A (p.Phe238Tyr) single nucleotide variant Uncertain significance rs752564097 GRCh38 Chromosome 1, 55008378: 55008378
32 BSND NM_057176.3(BSND): c.713T> A (p.Phe238Tyr) single nucleotide variant Uncertain significance rs752564097 GRCh37 Chromosome 1, 55474051: 55474051
33 BSND NM_057176.3(BSND): c.-175C> T single nucleotide variant Uncertain significance rs886046422 GRCh38 Chromosome 1, 54999012: 54999012
34 BSND NM_057176.3(BSND): c.-175C> T single nucleotide variant Uncertain significance rs886046422 GRCh37 Chromosome 1, 55464685: 55464685
35 BSND NM_057176.3(BSND): c.-156G> C single nucleotide variant Likely benign rs183925883 GRCh38 Chromosome 1, 54999031: 54999031
36 BSND NM_057176.3(BSND): c.-156G> C single nucleotide variant Likely benign rs183925883 GRCh37 Chromosome 1, 55464704: 55464704
37 BSND NM_057176.3(BSND): c.-34G> A single nucleotide variant Uncertain significance rs768683733 GRCh38 Chromosome 1, 54999153: 54999153
38 BSND NM_057176.3(BSND): c.-34G> A single nucleotide variant Uncertain significance rs768683733 GRCh37 Chromosome 1, 55464826: 55464826
39 BSND NM_057176.3(BSND): c.*24A> C single nucleotide variant Benign rs6682884 GRCh38 Chromosome 1, 55008652: 55008652
40 BSND NM_057176.3(BSND): c.*24A> C single nucleotide variant Benign rs6682884 GRCh37 Chromosome 1, 55474325: 55474325
41 BSND NM_057176.3(BSND): c.*164+11C> G single nucleotide variant Benign rs4339899 GRCh37 Chromosome 1, 55474476: 55474476
42 BSND NM_057176.3(BSND): c.*164+11C> G single nucleotide variant Benign rs4339899 GRCh38 Chromosome 1, 55008803: 55008803
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:

38
# 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 67
Show member pathways
 12.63 BSND CLCN5 CLCNKA CLCNKB SLC12A1 SLC12A2
2
Neuropathic Pain-Signaling in Dorsal Horn Neurons 65
Show member pathways
 12.15 CLCN5 SLC12A1 SLC12A2 SLC12A3
3
Ion channel transport 67
Show member pathways
 11.95 BSND CLCN5 CLCNKA CLCNKB
4
Hepatic ABC Transporters 65
Show member pathways
 11.59 CLCN5 CLCNKA CLCNKB
5
Diuretics Pathway, Pharmacodynamics 62
10.56 BSND CLCNKA CLCNKB KCNJ1 SLC12A1 SLC12A3
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 BSND CASR CLCN5 CLCNKA CLCNKB KCNJ1
2 integral component of plasma membrane GO:0005887 9.7 BSND CASR CLCN5 CLCNKA CLCNKB SLC12A2
3 basolateral plasma membrane GO:0016323 9.54 BSND CASR UMOD
4 chloride channel complex GO:0034707 9.4 CLCNKA CLCNKB
5 plasma membrane GO:0005886 9.36 BSND CASR CLCN5 CLCNKA CLCNKB KCNJ1
6 apical plasma membrane GO:0016324 9.35 CASR SLC12A1 SLC12A2 SLC12A3 UMOD
7 membrane GO:0016020 10.06 BSND CASR CLCN5 CLCNKA CLCNKB 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 CLCN5 CLCNKA CLCNKB SLC12A1 SLC12A2 SLC12A3
2 ion transport GO:0006811 9.91 CLCN5 CLCNKA CLCNKB KCNJ1 SLC12A1 SLC12A2
3 ion transmembrane transport GO:0034220 9.73 BSND CLCN5 CLCNKA CLCNKB KCNJ1 SLC12A1
4 regulation of ion transmembrane transport GO:0034765 9.71 CLCNKA CLCNKB KCNJ1
5 potassium ion transport GO:0006813 9.7 KCNJ1 SLC12A1 SLC12A2
6 sodium ion transport GO:0006814 9.69 SLC12A1 SLC12A2 SLC12A3
7 sodium ion transmembrane transport GO:0035725 9.67 SLC12A1 SLC12A2 SLC12A3
8 cell volume homeostasis GO:0006884 9.65 SLC12A1 SLC12A2 SLC12A3
9 potassium ion import across plasma membrane GO:1990573 9.62 KCNJ1 SLC12A1 SLC12A2 SLC12A3
10 potassium ion homeostasis GO:0055075 9.61 SLC12A1 SLC12A2 SLC12A3
11 chloride ion homeostasis GO:0055064 9.58 SLC12A1 SLC12A2 SLC12A3
12 chloride transport GO:0006821 9.55 BSND CLCN5 CLCNKA CLCNKB SLC12A2
13 excretion GO:0007588 9.35 CLCN5 CLCNKA CLCNKB KCNJ1 UMOD
14 chloride transmembrane transport GO:1902476 9.23 BSND CASR CLCN5 CLCNKA CLCNKB SLC12A1

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

Sources for Bartter Disease

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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