MCID: BRT042
MIFTS: 45

Bartter Syndrome, Type 3

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

Aliases & Classifications for Bartter Syndrome, Type 3

MalaCards integrated aliases for Bartter Syndrome, Type 3:

Name: Bartter Syndrome, Type 3 54 13 69
Bartter Syndrome Type 3 12 50 24 56 29
Classic Bartter Syndrome 12 24 56 71
Bartter Disease Type 3 12 14
Barts3 12 71
Bartter Syndrome Type Iii 56
Bartter Syndrome, Classic 52
Bartter Syndrome Classic 50
Adult Bartter Syndrome 56
Bartter Syndrome 3 71

Characteristics:

Orphanet epidemiological data:

56
classic bartter syndrome
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult,Childhood,Infancy;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
variable age of onset
clinical variation


HPO:

32
bartter syndrome, type 3:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare renal diseases


External Ids:

OMIM 54 607364
Disease Ontology 12 DOID:0110144
ICD10 33 E26.8
Orphanet 56 ORPHA93605
UMLS via Orphanet 70 C1846343
ICD10 via Orphanet 34 E26.8
MeSH 42 D001477

Summaries for Bartter Syndrome, Type 3

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 93605disease definitionclassic bartter syndrome is a type of bartter syndrome (see this term), characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin ii.epidemiologyexact prevalence of classic bartter syndrome is not known. it is by far the most frequent type of bartter syndrome.clinical descriptionclassic bartter syndrome is characterized by a milder clinical picture with a wide phenotypic heterogeneity when compared to other subtypes of bartter syndrome. only one third of the patients present with maternal polyhydramnios which usually does not lead to prematurity. patients usually present after neonatal period with failure to thrive, fatigue, muscle weakness, cramps and carpopedal spasms. hypokalemia and alkalosis are common. polyuria and hypostenuria/isosthenuria are variable, as is hypercalciuria. few patients develop medullary nephrocalcinosis.etiologymutation in clcnkb gene (1p36), encoding a basolateral chloride channel clckb, has been identified as the most frequent cause of classic bartter syndrome. both the chloride channels, clcka and clckb are expressed in thick ascending limb of the loop of henle (talh), clcka is exclusively expressed in the ascending limb, while clckb is also expressed in distal convoluted tubule (dct), thereby explaining the pronounced dct features (similar to gitelman syndrome; see this term) in some patients with clcnkb mutations. clcnkb mutations define classic bartter syndrome; however, genes other than clcnkb (those that are usually associated with other types of bartter syndrome) may less commonly cause the classic, less severe phenotype, such as slc12a1 and kcnj1. rarely, patients with bsnd mutation may show a mild phenotype of salt loss associated with deafness.diagnostic methodsdiagnosis is based on the clinical picture, plasma and urine electrolytes (sodium, potassium, chloride, bicarbonate, magnesium, calcium), renin and aldosterone levels. calcium levels in the urine may be normal or slightly increased. genetic testing provides the definite diagnosis.differential diagnosisthe differential diagnosis includes pseudo-bartter syndrome (diuretic abuse, surreptitious vomiting), cystic fibrosis, gitelman syndrome, and celiac disease (see these terms).antenatal diagnosisdiagnostic testing of amniocytes might be indicated for mothers of affected children, or potential heterozygouscarriers (close relatives of affected individuals).genetic counselinginheritance is autosomal recessive.management and treatmenttreatment includes oral potassium supplements, non-steroidal anti-inflammatory drugs (e.g. indometacin) and possibly potassium-sparing diuretics. in stressful situations (additional diseases, surgical procedures, trauma) blood electrolyte levels may change rapidly, requiring prompt and vigorous treatment.prognosislife expectancy may be reduced in severe cases but renal failure is rare. quality of life may be poor, growth rate reduced, and medicalization/hospitalization rate high.visit the orphanet disease page for more resources. last updated: 9/10/2014

MalaCards based summary : Bartter Syndrome, Type 3, also known as bartter syndrome type 3, is related to bartter syndrome, type 4a and gitelman syndrome, and has symptoms including renal salt wasting, polyuria and hyperaldosteronism. An important gene associated with Bartter Syndrome, Type 3 is CLCNKB (Chloride Voltage-Gated Channel Kb), and among its related pathways/superpathways is Diuretics Pathway, Pharmacodynamics. The drugs Amphotericin B and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include testes and kidney, and related phenotypes are homeostasis/metabolism and renal/urinary system

Disease Ontology : 12 A Bartter disease that has material basis in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36.

OMIM : 54
Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997). Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, 601678) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). (607364)

UniProtKB/Swiss-Prot : 71 Bartter syndrome 3: A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria.

Related Diseases for Bartter Syndrome, Type 3

Diseases in the Bartter Disease family:

Bartter Syndrome, Type 3 Bartter Syndrome, Type 4a
Bartter Syndrome, Type 2 Bartter Syndrome, Type 1
Bartter Syndrome Type 4

Diseases related to Bartter Syndrome, Type 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
id Related Disease Score Top Affiliating Genes
1 bartter syndrome, type 4a 31.8 BSND CLCNKB
2 gitelman syndrome 10.9
3 bartter syndrome, type 2 10.8
4 bartter syndrome, type 1 10.8
5 marden-walker syndrome 10.5 REN SLC12A3
6 broad ligament malignant neoplasm 10.5 REN SLC12A3
7 listeria meningitis 10.4 REN SLC12A3
8 night blindness 10.3 CLCNKB KCNJ1 SLC12A1
9 hypophosphatemic rickets 10.3 CLCNKB SLC12A1 SLC12A3
10 mixed receptive-expressive language disorder 10.3 CLCNKB KCNJ1 SLC12A1
11 long qt syndrome 13 10.3 KCNJ1 REN SLC12A1
12 prediabetes syndrome 10.3 ATP6V0A4 SLC12A1
13 microphthalmia, isolated, with coloboma 7 10.3 KCNJ1 REN
14 north american indian childhood cirrhosis 10.1 ATP6V0A4 CLCNKB REN
15 hypertension, essential 9.9 REN SLC12A1 SLC12A3
16 pulmonary artery hypoplasia 9.9 BSND KCNJ1 REN SLC12A1
17 astrakhan spotted fever 9.9 ATP6V0A4 KCNJ1 REN SLC12A3
18 mesenchymal chondrosarcoma 9.8 CBS TBK1
19 nephrocalcinosis 9.8
20 nephrolithiasis 9.8
21 bestrophinopathy 9.4 BSND CLCNKB KCNJ1 REN SLC12A1 SLC12A3
22 spondyloepimetaphyseal dysplasia, faden-alkuraya type 9.4 BSND CLCNKB KCNJ1 REN SLC12A1 SLC12A3
23 pediatric angiosarcoma 9.4 BSND CLCNKB KCNJ1 REN SLC12A1 SLC12A3
24 melanoma, cutaneous malignant, 2 9.4 CBS TBK1
25 rhinitis 9.0 ATP6V0A4 BSND CLCNKB KCNJ1 REN SLC12A1

Graphical network of the top 20 diseases related to Bartter Syndrome, Type 3:



Diseases related to Bartter Syndrome, Type 3

Symptoms & Phenotypes for Bartter Syndrome, Type 3

Symptoms via clinical synopsis from OMIM:

54

Genitourinary- Kidneys:
renal salt wasting
polyuria
renal potassium wasting
impaired reabsorption of chloride
nephrocalcinosis is absent

Metabolic Features:
dehydration
hypokalemic metabolic alkalosis

Cardiovascular- Vascular:
low blood pressure

Head And Neck- Eyes:
multifocal yellow-white geographic, solid, choroidal lesions along the retinal vascular arcades
b-scan ultrasound shows echogenic, placoid calcified lesions at the level of the sclera and choroid
optical coherence tomography shows normal retina and retinal pigment epithelium overlying the sclerochoroidal lesions

Laboratory- Abnormalities:
hypokalemia
increased urinary potassium
increased urinary chloride
increased serum bicarbonate
hypocalciuria or normocalciuria

Muscle Soft Tissue:
generalized muscle weakness

Endocrine Features:
hyperactive renin-angiotensin system
increased plasma renin
increased plasma aldosterone


Clinical features from OMIM:

607364

Human phenotypes related to Bartter Syndrome, Type 3:

32 (show all 18)
id Description HPO Frequency HPO Source Accession
1 renal salt wasting 32 HP:0000127
2 polyuria 32 HP:0000103
3 hyperaldosteronism 32 HP:0000859
4 hypokalemia 32 HP:0002900
5 increased urinary potassium 32 HP:0003081
6 dehydration 32 HP:0001944
7 generalized muscle weakness 32 HP:0003324
8 hypotension 32 HP:0002615
9 hypocalciuria 32 occasional (7.5%) HP:0003127
10 renal potassium wasting 32 HP:0000128
11 hypokalemic metabolic alkalosis 32 HP:0001960
12 hyperactive renin-angiotensin system 32 HP:0000841
13 abnormality of the retinal vasculature 32 HP:0008046
14 abnormality of the choroid 32 HP:0000610
15 increased circulating renin level 32 HP:0000848
16 abnormality of the sclera 32 HP:0000591
17 hyperchloriduria 32 HP:0002914
18 impaired reabsorption of chloride 32 HP:0005579

UMLS symptoms related to Bartter Syndrome, Type 3:


polyuria, generalized muscle weakness

MGI Mouse Phenotypes related to Bartter Syndrome, Type 3:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.61 ATP6V0A4 BSND CLCNKB KCNJ1 PTGES REN
2 renal/urinary system MP:0005367 9.23 BSND CLCNKB KCNJ1 REN SLC12A1 SLC12A3

Drugs & Therapeutics for Bartter Syndrome, Type 3

Drugs for Bartter Syndrome, Type 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

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

Interventional clinical trials:


id 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

Search NIH Clinical Center for Bartter Syndrome, Type 3

Genetic Tests for Bartter Syndrome, Type 3

Genetic tests related to Bartter Syndrome, Type 3:

id Genetic test Affiliating Genes
1 Bartter Syndrome Type 3 29 24 CLCNKB

Anatomical Context for Bartter Syndrome, Type 3

MalaCards organs/tissues related to Bartter Syndrome, Type 3:

39
Testes, Kidney

Publications for Bartter Syndrome, Type 3

Articles related to Bartter Syndrome, Type 3:

id Title Authors Year
1
Bartter syndrome type 3: an unusual cause of nephrolithiasis. ( 11865110 )
2002

Variations for Bartter Syndrome, Type 3

UniProtKB/Swiss-Prot genetic disease variations for Bartter Syndrome, Type 3:

71
id Symbol AA change Variation ID SNP ID
1 CLCNKB p.Pro124Leu VAR_001624 rs121909131
2 CLCNKB p.Ala204Thr VAR_001625 rs121909132
3 CLCNKB p.Ala349Asp VAR_001626 rs121909134
4 CLCNKB p.Tyr432His VAR_001627 rs121909135
5 CLCNKB p.Arg438Cys VAR_001628 rs121909133

ClinVar genetic disease variations for Bartter Syndrome, Type 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CLCNKB NM_000085.4(CLCNKB): c.371C> T (p.Pro124Leu) single nucleotide variant Pathogenic rs121909131 GRCh37 Chromosome 1, 16374412: 16374412
2 CLCNKB NM_000085.4(CLCNKB): c.610G> A (p.Ala204Thr) single nucleotide variant Pathogenic rs121909132 GRCh37 Chromosome 1, 16375032: 16375032
3 CLCNKB NM_000085.4(CLCNKB): c.1046C> A (p.Ala349Asp) single nucleotide variant Pathogenic rs121909134 GRCh37 Chromosome 1, 16377088: 16377088
4 CLCNKB NM_000085.4(CLCNKB): c.1294T> C (p.Tyr432His) single nucleotide variant Pathogenic rs121909135 GRCh37 Chromosome 1, 16378039: 16378039
5 CLCNKB CLCNKB, DEL deletion Pathogenic
6 CLCNKB CLCNKB, IVS7AS, A-G, -2 single nucleotide variant Pathogenic
7 CLCNKB CLCNKB, DEL deletion Pathogenic
8 CLCNKB NM_000085.4(CLCNKB): c.1897delC (p.Leu633Terfs) deletion Likely pathogenic rs863224858 GRCh37 Chromosome 1, 16382221: 16382221
9 CLCNKB NM_000085.4(CLCNKB): c.1381dupA (p.Ile461Asnfs) duplication Pathogenic rs1057516207 GRCh38 Chromosome 1, 16051793: 16051793

Expression for Bartter Syndrome, Type 3

Search GEO for disease gene expression data for Bartter Syndrome, Type 3.

Pathways for Bartter Syndrome, Type 3

Pathways related to Bartter Syndrome, Type 3 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.48 BSND CLCNKB KCNJ1 SLC12A1 SLC12A3

GO Terms for Bartter Syndrome, Type 3

Cellular components related to Bartter Syndrome, Type 3 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 secretory granule lumen GO:0034774 8.8 IMPDH1 IMPDH2 PDXK

Biological processes related to Bartter Syndrome, Type 3 according to GeneCards Suite gene sharing:

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.83 ATP6V0A4 CLCNKB KCNJ1 SLC12A1 SLC12A3
2 ion transmembrane transport GO:0034220 9.67 ATP6V0A4 BSND CLCNKB SLC12A1
3 regulation of anion transmembrane transport GO:1903959 9.51 BSND CLCNKB
4 regulation of type I interferon production GO:0032479 9.49 DDX41 TBK1
5 purine nucleotide biosynthetic process GO:0006164 9.48 IMPDH1 IMPDH2
6 purine ribonucleoside monophosphate biosynthetic process GO:0009168 9.46 IMPDH1 IMPDH2
7 excretion GO:0007588 9.43 ATP6V0A4 CLCNKB KCNJ1
8 GTP biosynthetic process GO:0006183 9.4 IMPDH1 IMPDH2
9 lymphocyte proliferation GO:0046651 9.32 IMPDH1 IMPDH2
10 chloride transmembrane transport GO:1902476 9.26 BSND CLCNKB SLC12A1 SLC12A3
11 GMP biosynthetic process GO:0006177 9.16 IMPDH1 IMPDH2
12 chloride transport GO:0006821 8.92 BSND CLCNKB SLC12A1 SLC12A3

Molecular functions related to Bartter Syndrome, Type 3 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 voltage-gated chloride channel activity GO:0005247 9.16 BSND CLCNKB
2 cation:chloride symporter activity GO:0015377 8.96 SLC12A1 SLC12A3
3 IMP dehydrogenase activity GO:0003938 8.62 IMPDH1 IMPDH2

Sources for Bartter Syndrome, Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....