MCID: BRT004
MIFTS: 52

Bartter Disease

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

Aliases & Classifications for Bartter Disease

MalaCards integrated aliases for Bartter Disease:

Name: Bartter Disease 37 12 24 14 69
Bartter Syndrome 49 24 55 36 41
Bartter's Syndrome 12 49 24 28
Aldosteronism with Hyperplasia of the Adrenal Cortex 12 24
Renal Tubular Normotensive Hypokalemic Alkalosis with Hypercalciuria 55
Juxtaglomerular Hyperplasia with Secondary Aldosteronism 24
Salt-Losing Tubular Disorder, Henle's Loop Type 55
Salt-Wasting Tubulopathy, Henle's Loop Type 55
Hypokalemic Alkalosis with Hypercalciuria 49
Potassium Wasting 49
Bartters Syndrome 51

Characteristics:

Orphanet epidemiological data:

55
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: 55  
Rare renal diseases


External Ids:

Disease Ontology 12 DOID:445
ICD10 32 E26.81
ICD9CM 34 255.13
MeSH 41 D001477
NCIt 46 C34412
Orphanet 55 ORPHA112
MESH via Orphanet 42 D001477
UMLS via Orphanet 70 C0004775
ICD10 via Orphanet 33 E26.8
KEGG 36 H00239
SNOMED-CT via HPO 65 237836003
UMLS 69 C0004775

Summaries for Bartter Disease

NIH Rare Diseases : 49 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. Last updated: 9/19/2016

MalaCards based summary : Bartter Disease, also known as bartter syndrome, is related to bartter syndrome, type 2, antenatal and bartter syndrome, type 4b, neonatal, with sensorineural deafness, and has symptoms including abnormality of metabolism/homeostasis and short stature. 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 adrenal cortex, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Genetics Home Reference : 24 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 : 72 Bartter syndrome is a rare inherited defect in the thick ascending limb of the loop of Henle. It is... 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 all 44)
# Related Disease Score Top Affiliating Genes
1 bartter syndrome, type 2, antenatal 32.7 CASR KCNJ1
2 bartter syndrome, type 4b, neonatal, with sensorineural deafness 32.2 CLCNKA CLCNKB
3 bartter syndrome, type 3 31.4 BSND CLCNKB KCNJ1 REN SLC12A1 SLC12A3
4 hypokalemia 28.1 BSND CASR CLCNKB KCNJ1 REN SLC12A1
5 bartter syndrome, type 1, antenatal 11.6
6 bartter syndrome, type 4a, neonatal, with sensorineural deafness 11.6
7 bartter syndrome, type 5, antenatal, transient 11.5
8 renal tubular acidosis, distal 11.2
9 fanconi renotubular syndrome 1 10.9
10 thyrotoxic periodic paralysis 10.9
11 apparent mineralocorticoid excess 10.3 CLCNKB REN
12 pseudohyperkalemia, familial, 2, due to red cell leak 10.3 KCNJ1 REN
13 arthrogryposis, distal, type 3 10.3 REN SLC12A3
14 renal hypertension 10.2 REN SLC12A3
15 polyhydramnios 10.1 CLCNKB KCNJ1 SLC12A1
16 conn's syndrome 10.0 CLCNKB REN SLC12A3
17 interstitial nephritis 10.0 REN UMOD
18 xanthinuria, type i 10.0 CASR UMOD
19 chondrocalcinosis 10.0 CASR REN SLC12A3
20 urinary tract obstruction 10.0 REN UMOD
21 deafness, autosomal recessive 96 10.0 CLCNKA CLCNKB
22 autosomal recessive nonsyndromic deafness 36 10.0 CLCNKA CLCNKB
23 hypercalciuria, absorptive, 2 9.9 CASR CLCN5 KCNJ1
24 antenatal bartter syndrome 9.9 BSND KCNJ1 REN SLC12A1
25 idiopathic hypercalciuria 9.9 CASR CLCN5 REN
26 vesicoureteral reflux 1 9.9 REN UMOD
27 renal tubular acidosis 9.9
28 hypertension, essential 9.9 REN SLC12A1 SLC12A3
29 pseudohypoaldosteronism 9.8 KCNJ1 SLC12A3
30 chronic kidney failure 9.8 CASR REN UMOD
31 nephrocalcinosis 9.8 CLCN5 CLCNKB KCNJ1 SLC12A1
32 kidney disease 9.8 CASR REN UMOD
33 infantile bartter syndrome with sensorineural deafness 9.7 BSND CLCNKA CLCNKB
34 diabetes insipidus 9.7 CLCNKA REN SLC12A1
35 fanconi syndrome 9.7
36 leptospirosis 9.7
37 nephrolithiasis, calcium oxalate 9.7 CASR CLCN5 UMOD
38 cardiac arrhythmia 9.7
39 diabetes insipidus, nephrogenic, autosomal 9.6 CASR CLCNKA SLC12A1
40 nephrolithiasis 9.5 CASR CLCN5 CLCNKB UMOD
41 mineral metabolism disease 9.4 CASR CLCN5 KCNJ1 REN SLC12A3
42 dent disease 1 9.2 CLCN5 CLCNKA CLCNKB KCNJ1 SLC12A1
43 gitelman syndrome 9.0 BSND CASR CLCNKB KCNJ1 REN SLC12A1
44 renal tubular transport disease 8.4 BSND CLCN5 CLCNKA CLCNKB KCNJ1 REN

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:

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001939
2 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322

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

25 (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 SLC12A3 SLC12A1 SLC12A2
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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 SLC12A2 BSND UMOD CASR KCNJ1 REN
2 growth/size/body region MP:0005378 9.76 SLC12A2 BSND UMOD CASR CLCN5 KCNJ1
3 homeostasis/metabolism MP:0005376 9.65 SLC12A2 SLC12A3 BSND UMOD CASR CLCN5
4 renal/urinary system MP:0005367 9.28 SLC12A3 BSND UMOD CASR CLCN5 CLCNKB

Drugs & Therapeutics for Bartter Disease

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

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

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 Hydrochlorothiazide
4 Spironolactone to Decrease Potassium Wasting in Hypercalciurics on Thiazides Diuretics Completed NCT00276289 Spironolactone

Search NIH Clinical Center for Bartter Disease

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: bartter syndrome

Genetic Tests for Bartter Disease

Genetic tests related to Bartter Disease:

# Genetic test Affiliating Genes
1 Bartter's Syndrome 28

Anatomical Context for Bartter Disease

MalaCards organs/tissues related to Bartter Disease:

38
Kidney, Adrenal Cortex, Cortex, Bone
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 124)
# Title Authors Year
1
Prevalence of Novel<i>MAGED2</i>Mutations in Antenatal Bartter Syndrome. ( 29146702 )
2018
2
Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation. ( 29421779 )
2018
3
Cisplatin Therapy Does Not Worsen Renal Function in Severe Antenatal Bartter Syndrome. ( 28612006 )
2017
4
A novel variant in the SLC12A1 gene in two families with antenatal Bartter syndrome. ( 27748541 )
2017
5
Endoplasmic reticulum-associated degradation of the renal potassium channel, ROMK, leads to type II Bartter syndrome. ( 28630040 )
2017
6
Antenatal Bartter syndrome presenting with vomiting and constipation mimicking subacute intestinal obstruction in a 20-day-old neonate. ( 29141924 )
2017
7
Neonatal Bartter Syndrome in association with congenital adrenal hyperplasia in a neonate - a rare combination. ( 27183948 )
2016
8
Renal physiology: MAGED2 mutations in transient antenatal Bartter syndrome. ( 27181088 )
2016
9
Severe Hypokalemia with grave complication diagnosed as Bartter syndrome. ( 27728466 )
2016
10
Fetal urine biochemistry in antenatal Bartter syndrome: a case report. ( 27648267 )
2016
11
Cardiac arrest in pregnancy - Refractory hypokalemia - Is it gitelman or type 3 bartters syndrome? ( 27728485 )
2016
12
Bartter syndrome associated with nephropathic cystinosis. ( 28096565 )
2016
13
Diagnosis of antenatal Bartter syndrome. ( 27328514 )
2016
14
Neonatal Bartter syndrome with cholelithiasis and hydrocephalus: Rare association. ( 27682612 )
2016
15
Urinary exosomes in the diagnosis of Gitelman and Bartter syndromes. ( 25422309 )
2015
16
Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics. ( 25880437 )
2015
17
Antenatal Bartter syndrome resembling nephrogenic diabetes insipidus in a 5-year-old boy. ( 25935500 )
2015
18
Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review. ( 25741940 )
2015
19
Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene. ( 23110775 )
2014
20
Nephrocalcinosis as adult presentation of Bartter syndrome type II. ( 24659592 )
2014
21
Antenatal Bartter syndrome. ( 24906263 )
2014
22
Severe early onset hydramnios in a singleton pregnancy due to antenatal Bartter syndrome. ( 24483758 )
2014
23
CLCNKB mutations causing mild Bartter syndrome profoundly alter the pH and Ca2+ dependence of ClC-Kb channels. ( 24271511 )
2014
24
Novel CLCNKB mutations causing Bartter syndrome affect channel surface expression. ( 23703872 )
2013
25
Congenital chloride diarrhea misdiagnosed as pseudo-Bartter syndrome. ( 24381629 )
2013
26
Nephrocalcinosis and placental findings in neonatal bartter syndrome. ( 23943704 )
2013
27
Neonatal Bartter syndrome and unilateral ectopic renal cyst as new renal causes of hydrops fetalis: two case reports and review of the literature. ( 23484775 )
2013
28
Classic Bartter syndrome complicated with profound growth hormone deficiency: a case report. ( 24377430 )
2013
29
Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm. ( 24058621 )
2013
30
Expanding the spectrum of genetic mutations in antenatal Bartter syndrome type II. ( 23782368 )
2013
31
Genetic basis of Bartter syndrome in Korea. ( 21865213 )
2012
32
A patient with Dent disease and features of Bartter syndrome caused by a novel mutation of CLCN5. ( 21932010 )
2012
33
A patient with cystinosis presenting like bartter syndrome and review of literature. ( 23431081 )
2012
34
Hypothesis: SLC12A3 Polymorphism modifies thiazide hypersensitivity of antenatal Bartter syndrome to thiazide resistance. ( 22245519 )
2012
35
Understanding Bartter syndrome and Gitelman syndrome. ( 22282380 )
2012
36
Antenatal bartter syndrome: a review. ( 22518185 )
2012
37
Status epilepticus as the only presentation of the neonatal Bartter syndrome. ( 22470874 )
2012
38
Type IV neonatal Bartter syndrome complicated with congenital chloride diarrhea. ( 23569535 )
2012
39
Bartter syndrome and growth hormone deficiency: three cases. ( 22707176 )
2012
40
Congenital chloride diarrhea misdiagnosed as Bartter syndrome. ( 21805424 )
2011
41
Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family. ( 21269598 )
2011
42
Bartter syndrome revealed at adult age by recurrent nephrolithiasis, associated with hypertension and metabolic syndrome. ( 21484701 )
2011
43
Antenatal Bartter syndrome: a rare cause of unexplained severe polyhydramnios. ( 21575321 )
2011
44
A novel compound heterozygous ROMK mutation presenting as late onset Bartter syndrome associated with nephrocalcinosis and elevated 1,25(OH)(2) vitamin D levels. ( 21431899 )
2011
45
Cystinosis presenting with findings of Bartter syndrome. ( 21750641 )
2011
46
Bartter syndrome in two sisters with a novel mutation of the CLCNKB gene, one with deafness. ( 21479528 )
2011
47
Recurrent urinary tract infections in an infant with antenatal Bartter syndrome. ( 20127218 )
2011
48
A case of antenatal Bartter syndrome with sensorineural deafness. ( 21158220 )
2010
49
Long-term follow-up of patients with Bartter syndrome type I and II. ( 20219833 )
2010
50
A patient with Bartter syndrome accompanying severe growth hormone deficiency and focal segmental glomerulosclerosis. ( 20127383 )
2010

Variations for Bartter Disease

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
12.63 BSND CLCN5 CLCNKA CLCNKB SLC12A1 SLC12A2
2
Show member pathways
12.15 CLCN5 SLC12A1 SLC12A2 SLC12A3
3
Show member pathways
11.95 BSND CLCN5 CLCNKA CLCNKB
4
Show member pathways
11.59 CLCN5 CLCNKA CLCNKB
5 10.56 BSND CLCNKA CLCNKB KCNJ1 SLC12A1 SLC12A3

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 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 11)
# Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.98 CLCN5 CLCNKA CLCNKB KCNJ1 SLC12A1 SLC12A2
2 transmembrane transport GO:0055085 9.88 CLCN5 CLCNKA CLCNKB SLC12A1 SLC12A2 SLC12A3
3 ion transport GO:0006811 9.87 CLCN5 CLCNKA CLCNKB KCNJ1 SLC12A1 SLC12A2
4 ion transmembrane transport GO:0034220 9.77 BSND CLCN5 CLCNKA CLCNKB SLC12A1
5 regulation of ion transmembrane transport GO:0034765 9.67 CLCNKA CLCNKB KCNJ1
6 potassium ion transport GO:0006813 9.65 KCNJ1 SLC12A1 SLC12A2
7 chloride transport GO:0006821 9.65 BSND CLCN5 CLCNKA CLCNKB SLC12A2
8 sodium ion transport GO:0006814 9.63 SLC12A1 SLC12A2 SLC12A3
9 regulation of anion transmembrane transport GO:1903959 9.46 BSND CLCN5 CLCNKA CLCNKB
10 excretion GO:0007588 9.35 CLCN5 CLCNKA CLCNKB KCNJ1 UMOD
11 chloride transmembrane transport GO:1902476 9.17 BSND CLCN5 CLCNKA CLCNKB SLC12A1 SLC12A2

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 9.54 CLCNKA CLCNKB KCNJ1
2 symporter activity GO:0015293 9.5 SLC12A1 SLC12A2 SLC12A3
3 chloride channel activity GO:0005254 9.46 BSND CLCN5 CLCNKA CLCNKB
4 sodium:potassium:chloride symporter activity GO:0008511 9.26 SLC12A1 SLC12A2
5 cation:chloride symporter activity GO:0015377 9.13 SLC12A1 SLC12A2 SLC12A3
6 voltage-gated chloride channel activity GO:0005247 8.92 BSND CLCN5 CLCNKA CLCNKB

Sources for Bartter Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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