Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
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
Sources

Aliases & Classifications for Bartter Disease

About this section

MalaCards integrated aliases for Bartter Disease:

Name: Bartter Disease 38 12 25 15 73
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 Endocrine diseases Blood diseases Ear diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:445
ICD10 33 E26.81
ICD9CM 35 255.13
MeSH 44 D001477
NCIt 50 C34412
SNOMED-CT 68 71275003
Orphanet 59 ORPHA112
MESH via Orphanet 45 D001477
UMLS via Orphanet 74 C0004775
ICD10 via Orphanet 34 E26.8
KEGG 37 H00239
SNOMED-CT via HPO 69 237836003
UMLS 73 C0004775
Sources

Summaries for Bartter Disease

About this section
NIH Rare Diseases : 53 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 antenatal bartter syndrome and infantile bartter syndrome with sensorineural deafness. 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 Hydrochlorothiazide and Spironolactone 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 : 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.

Wikipedia : 76 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

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 91)
# Related Disease Score Top Affiliating Genes
1 antenatal bartter syndrome 33.4 BSND KCNJ1 REN SLC12A1
2 infantile bartter syndrome with sensorineural deafness 33.2 BSND CLCNKA CLCNKB
3 bartter syndrome, type 2, antenatal 32.7 CASR KCNJ1
4 bartter syndrome, type 4b, neonatal, with sensorineural deafness 32.4 CLCNKA CLCNKB
5 gitelman syndrome 32.3 BSND CASR CLCNKB KCNJ1 REN SLC12A1
6 bartter syndrome, type 3 32.1 BSND CLCNKB KCNJ1 REN SLC12A1 SLC12A3
7 nephrocalcinosis 31.1 CASR CLCN5 CLCNKB KCNJ1 SLC12A1 SLC12A3
8 polyhydramnios 30.0 CLCNKB KCNJ1 SLC12A1
9 renal hypertension 29.9 REN SLC12A3
10 diabetes insipidus 29.9 CLCNKA REN SLC12A1
11 diabetes insipidus, nephrogenic, autosomal 29.8 CASR CLCNKA SLC12A1
12 pseudohypoaldosteronism 29.8 KCNJ1 REN SLC12A3
13 dent disease 1 29.4 CLCN5 CLCNKA CLCNKB
14 kidney disease 29.3 CASR CLCN5 REN UMOD
15 hypokalemia 29.2 BSND CLCNKB KCNJ1 REN SLC12A1 SLC12A3
16 nephrolithiasis 29.0 BSND CASR CLCN5 CLCNKB KCNJ1 SLC12A1
17 bartter syndrome type 4 12.6
18 hypocalcemia, autosomal dominant 1 12.1
19 bartter syndrome, type 1, antenatal 11.7
20 bartter syndrome, type 4a, neonatal, with sensorineural deafness 11.7
21 bartter syndrome, type 5, antenatal, transient 11.6
22 renal tubular acidosis, distal 11.4
23 diarrhea 1, secretory chloride, congenital 11.4
24 fanconi renotubular syndrome 1 11.0
25 thyrotoxic periodic paralysis 11.0
26 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia 11.0
27 primary hypomagnesemia 11.0
28 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.0
29 syndrome of inappropriate antidiuretic hormone 11.0
30 cystic fibrosis 10.3
31 cystinosis 10.3
32 pseudohyperkalemia, familial, 2, due to red cell leak 10.1 KCNJ1 REN
33 arthrogryposis, distal, type 3 10.1 REN SLC12A3
34 renal tubular acidosis 10.1
35 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 10.1 KCNJ1 SLC12A3
36 focal segmental glomerulosclerosis 1 10.0
37 congenital chloride diarrhea 10.0
38 focal segmental glomerulosclerosis 10.0
39 cholelithiasis 10.0
40 diarrhea 10.0
41 growth hormone deficiency 10.0
42 chondrocalcinosis 10.0 CASR SLC12A3
43 xanthinuria, type i 10.0 CASR UMOD
44 interstitial nephritis 10.0 REN UMOD
45 deafness, autosomal recessive 96 10.0 CLCNKA CLCNKB
46 autosomal recessive nonsyndromic deafness 36 10.0 CLCNKA CLCNKB
47 cystinosis, nephropathic 10.0
48 hyperparathyroidism 10.0
49 hypercalciuria, absorptive, 2 10.0 CASR CLCN5 KCNJ1
50 idiopathic hypercalciuria 9.9 CASR CLCN5 REN

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



Diseases related to Bartter Disease
Sources

Symptoms & Phenotypes for Bartter Disease

About this section

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

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

26 (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:

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

About this section

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrochlorothiazide Approved, Vet_approved Not Applicable 58-93-5 3639
2
Spironolactone Approved Not Applicable 52-01-7, 1952-01-7 5833
3 Calcium, Dietary
4 Hormones ,Not Applicable
5 Antihypertensive Agents Not Applicable
6 diuretics Not Applicable
7 Sodium Chloride Symporter Inhibitors Not Applicable
8 Natriuretic Agents Not Applicable
9 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
10 Diuretics, Potassium Sparing Not Applicable
11 Mineralocorticoids Not Applicable
12 Hormone Antagonists Not Applicable
13 Mineralocorticoid Receptor Antagonists Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Parathyroid Hormone (PTH) Homeostasis in Bartter Syndrome Unknown status NCT01021280
2 A Translational Approach to Gitelman Syndrome Completed NCT00822107 Not Applicable Hydrochlorothiazide
3 Spironolactone to Decrease Potassium Wasting in Hypercalciurics on Thiazides Diuretics Completed NCT00276289 Not Applicable Spironolactone

Search NIH Clinical Center for Bartter Disease

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: bartter syndrome

Sources

Genetic Tests for Bartter Disease

About this section

Genetic tests related to Bartter Disease:

# Genetic test Affiliating Genes
1 Bartter Syndrome 29
Sources

Anatomical Context for Bartter Disease

About this section

MalaCards organs/tissues related to Bartter Disease:

41
Kidney, Cortex, Bone, Adrenal Cortex, Brain
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 260)
# Title Authors Year
1
Bartter Syndrome and Gitelman Syndrome. ( 30454738 )
2019
2
Genetic screening for Bartter syndrome and Gitelman syndrome pathogenic genes among individuals with hypertension and hypokalemia. ( 29953267 )
2018
3
Prevalence of Novel<i>MAGED2</i>Mutations in Antenatal Bartter Syndrome. ( 29146702 )
2018
4
Clinical characterization and diagnosis of cystic fibrosis through exome sequencing in Chinese infants with Bartter-syndrome-like hypokalemia alkalosis. ( 29520692 )
2018
5
Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus. ( 29527380 )
2018
6
Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation. ( 29421779 )
2018
7
A novel differential diagnosis to nonobstructive diffuse and dilated bowel loops with polyhydramnios: Bartter syndrome. ( 30246465 )
2018
8
Bartter Syndrome Type 3: Phenotype-Genotype Correlation and Favorable Response to Ibuprofen. ( 29900164 )
2018
9
Novel compound heterozygous CLCNKB gene mutations (c.1755A>G/c.848_850delTCT) cause classic Bartter syndrome. ( 29442545 )
2018
10
Bartter syndrome-like phenotype in a patient with diabetes: a case report. ( 30115098 )
2018
11
Bartter Syndrome and GH Deficiency: three siblings with a novel CLCNKB mutation. ( 30387909 )
2018
12
Two neonates with Bartter syndrome. ( 30410160 )
2018
13
Effect of nonsteroidal anti-inflammatory drugs in children with Bartter syndrome. ( 30426218 )
2018
14
Bartter syndrome: causes, diagnosis, and treatment. ( 30519073 )
2018
15
Antenatal Bartter syndrome presenting with vomiting and constipation mimicking subacute intestinal obstruction in a 20-day-old neonate. ( 29141924 )
2017
16
Endoplasmic reticulum-associated degradation of the renal potassium channel, ROMK, leads to type II Bartter syndrome. ( 28630040 )
2017
17
A novel variant in the SLC12A1 gene in two families with antenatal Bartter syndrome. ( 27748541 )
2017
18
Cisplatin Therapy Does Not Worsen Renal Function in Severe Antenatal Bartter Syndrome. ( 28612006 )
2017
19
Bartter Syndrome with Nephrogenic Diabetes Insipidus and Vitamin D Resistant Rickets. ( 28285303 )
2017
20
Clinical and Genetic Spectrum of Bartter Syndrome Type 3. ( 28381550 )
2017
21
Paving the way for Bartter syndrome type 3 drug discovery: a hope from basic research. ( 28598505 )
2017
22
Genetic heterogeneity in patients with Bartter syndrome type 1. ( 28000888 )
2017
23
Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV. ( 28012523 )
2017
24
Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome. ( 28288174 )
2017
25
Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone. ( 28377333 )
2017
26
Rectal Cancer in a Patient with Bartter Syndrome: A Case Report. ( 28498361 )
2017
27
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
28
Neonatal bartter syndrome in an extremely low birth weight baby. ( 28937079 )
2017
29
Late-onset Bartter syndrome type II. ( 28979772 )
2017
30
Maternal Pseudo-Bartter Syndrome Associated with Severe Perinatal Brain Injury. ( 28984259 )
2017
31
Pseudo-Bartter Syndrome in a Chinese Infant with Cystic Fibrosis Caused by c.532G>A Mutation in CFTR. ( 29133775 )
2017
32
Mutation spectrum of Chinese patients with Bartter syndrome. ( 29254190 )
2017
33
Bartter syndrome associated with nephropathic cystinosis. ( 28096565 )
2016
34
Diagnosis of antenatal Bartter syndrome. ( 27328514 )
2016
35
Neonatal Bartter syndrome with cholelithiasis and hydrocephalus: Rare association. ( 27682612 )
2016
36
Neonatal Bartter Syndrome in association with congenital adrenal hyperplasia in a neonate - a rare combination. ( 27183948 )
2016
37
Fetal urine biochemistry in antenatal Bartter syndrome: a case report. ( 27648267 )
2016
38
Renal physiology: MAGED2 mutations in transient antenatal Bartter syndrome. ( 27181088 )
2016
39
Accentuated hyperparathyroidism in type II Bartter syndrome. ( 26857709 )
2016
40
Prenatal diagnosis of Bartter syndrome: amniotic fluid aldosterone. ( 26528764 )
2016
41
An Adult Case of Bartter Syndrome Type III Presenting with Proteinuria. ( 26755355 )
2016
42
Acute Psychosis in Two Patients with Bartter Syndrome. ( 26779748 )
2016
43
Bartter Syndrome with Normal Aldosterone Level: An Unusual Presentation. ( 27277374 )
2016
44
Renal apnoea: extreme disturbance of homoeostasis in a child with Bartter syndrome type IV. ( 27511787 )
2016
45
Acquired Bartter syndrome following gentamicin therapy. ( 27942182 )
2016
46
Acute kidney injury in type 3 Bartter syndrome: Angiotensin-converting enzyme inhibitors as a cause. ( 28008741 )
2016
47
Unusual case of failure to thrive: Type III Bartter syndrome. ( 28327689 )
2016
48
Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review. ( 25741940 )
2015
49
Antenatal Bartter syndrome resembling nephrogenic diabetes insipidus in a 5-year-old boy. ( 25935500 )
2015
50
Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics. ( 25880437 )
2015
Sources

Variations for Bartter Disease

About this section

ClinVar genetic disease variations for Bartter Disease:

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

Expression for Bartter Disease

About this section
Search GEO for disease gene expression data for Bartter Disease.
Sources

Pathways for Bartter Disease

About this section

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 BSND CLCN5 CLCNKA CLCNKB SLC12A1 SLC12A2
2
Neuropathic Pain-Signaling in Dorsal Horn Neurons 64
Show member pathways
 12.15 CLCN5 SLC12A1 SLC12A2 SLC12A3
3
Ion channel transport 66
Show member pathways
 11.95 BSND CLCN5 CLCNKA CLCNKB
4
Hepatic ABC Transporters 64
Show member pathways
 11.59 CLCN5 CLCNKA CLCNKB
5
Diuretics Pathway, Pharmacodynamics 61
10.56 BSND CLCNKA CLCNKB KCNJ1 SLC12A1 SLC12A3
Sources

GO Terms for Bartter Disease

About this section

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 15)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.95 CLCN5 CLCNKA CLCNKB SLC12A1 SLC12A2 SLC12A3
2 ion transport GO:0006811 9.95 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 9.72 CLCNKA CLCNKB KCNJ1
5 potassium ion transport GO:0006813 9.71 KCNJ1 SLC12A1 SLC12A2
6 sodium ion transport GO:0006814 9.7 SLC12A1 SLC12A2 SLC12A3
7 sodium ion transmembrane transport GO:0035725 9.69 SLC12A1 SLC12A2 SLC12A3
8 cell volume homeostasis GO:0006884 9.67 SLC12A1 SLC12A2 SLC12A3
9 potassium ion import across plasma membrane GO:1990573 9.67 KCNJ1 SLC12A1 SLC12A2 SLC12A3
10 potassium ion homeostasis GO:0055075 9.63 SLC12A1 SLC12A2 SLC12A3
11 potassium ion import GO:0010107 9.62 KCNJ1 SLC12A1 SLC12A2 SLC12A3
12 chloride ion homeostasis GO:0055064 9.61 SLC12A1 SLC12A2 SLC12A3
13 chloride transport GO:0006821 9.55 BSND CLCN5 CLCNKA CLCNKB SLC12A2
14 excretion GO:0007588 9.35 CLCN5 CLCNKA CLCNKB KCNJ1 UMOD
15 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 8.92 BSND CLCN5 CLCNKA CLCNKB
Sources

Sources for Bartter Disease

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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
Content
Loading form....