MCID: BRT004
MIFTS: 51

Bartter Disease malady

Genetic diseases, Rare diseases, Nephrological diseases, Endocrine diseases, Ear diseases, Fetal diseases categories

Summaries for Bartter Disease

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NIH Rare Diseases:41 Bartter syndrome is 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 wait as expected. 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. it is caused by mutations in any one of at least 5 genes and is inherited in an autosomal recessive manner. the different types of bartter syndrome are classified according to the specific gene that causes the condition. treatment depends on the type of the syndrome present but chiefly focuses on preventing the loss of too much potassium from the body. last updated: 11/7/2011

MalaCards based summary: Bartter Disease, also known as bartter's syndrome, is related to antenatal bartter syndrome and bartter syndrome, type 3, and has symptoms including abnormality of metabolism/homeostasis, short stature and abnormal renal physiology. An important gene associated with Bartter Disease is CLCNKB (chloride channel, voltage-sensitive Kb), and among its related pathways are Selected targets of CREB1 and Ion channel transport. The drugs captopril and enalapril and the compounds 3-phenyl-cpp and dids have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and cortex, and related mouse phenotypes are renal/urinary system and growth/size/body.

Genetics Home Reference:21 Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body.

Aliases & Classifications for Bartter Disease

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Sources:
30LifeMap Discovery®, 9Disease Ontology, 21Genetics Home Reference, 11DISEASES, 60UMLS, 41NIH Rare Diseases, 47Orphanet, 43Novoseek, 55SNOMED-CT, 38NCIt, 33MeSH, 27ICD9CM, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Bartter Disease, Aliases & Descriptions:

Name: Bartter Disease 30 9 21 11 60
Bartter's Syndrome 9 41 21
Bartter Syndrome 41 21 47
Renal Tubular Normotensive Hypokalemic Alkalosis with Hypercalciuria 41 47
Aldosteronism with Hyperplasia of the Adrenal Cortex 9 21
Juxtaglomerular Hyperplasia with Secondary Aldosteronism 21
Salt-Losing Tubular Disorder, Henle's Loop Type 47
 
Salt-Losing Tubular Disorder, Henles Loop Type 41
Salt-Wasting Tubulopathy, Henle's Loop Type 47
Salt-Wasting Tubulopathy, Henles Loop Type 41
Hypokalemic Alkalosis with Hypercalciuria 41
Bartters Syndrome 43
Potassium Wasting 41


Classifications:

Orphanet: 47 
Rare renal diseases


Characteristics (Orphanet epidemiological data):

47
bartter syndrome:
Inheritance: Autosomal dominant,Autosomal 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


External Ids:

Disease Ontology9 DOID:445
NCIt38 C34412
MeSH33 D001477
ICD9CM27 255.13
SNOMED-CT55 71275003, 190506003
Orphanet47 112
MESH via Orphanet34 D001477
ICD10 via Orphanet26 E26.8
UMLS via Orphanet61 C0004775

Related Diseases for Bartter Disease

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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 Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1antenatal bartter syndrome30.9SLC12A1, REN, KCNJ1
2bartter syndrome, type 330.9KCNJ1, CLCNKB, REN, SLC12A1
3nephrocalcinosis30.7SLC12A1, CLCNKB, KCNJ1
4pseudohypoaldosteronism30.3KCNJ1, REN
5gitelman syndrome30.0BSND, KCNJ1, CLCNKB, REN, SLC12A1
6polyhydramnios30.0BSND, KCNJ1, CLCNKB, SLC12A1
7hypokalemia29.6BSND, KCNJ1, CLCNKB, REN, SLC12A1
8bartter syndrome, type 110.6
9bartter syndrome type 410.6
10bartter syndrome, type 210.5
11bartter syndrome, type 4b, digenic10.5
12cystinosis10.4
13diabetes insipidus10.4AVP
14bartter syndrome, type 4a10.4
15bartter syndrome with hypocalcemia10.4
16congenital chloride diarrhea10.3
17diarrhea10.3
18growth hormone deficiency10.3
19renal tubular acidosis10.2
20sensorineural hearing loss10.2CLCNKB, BSND
21hypocalcemia, autosomal dominant10.2
22focal segmental glomerulosclerosis10.2
23nephrolithiasis10.2
24cholelithiasis10.2
25glomerulosclerosis10.2
26congestive heart failure10.1REN, AVP
27diabetes insipidus, nephrogenic10.1AVP, SLC12A1
28hyperaldosteronism10.1REN, CLCNKB, KCNJ1
29fanconi renotubular syndrome 110.1
30sesame syndrome10.1
31leptospirosis10.1
32fanconi syndrome10.1
33diarrhea 1, secretory chloride, congenital10.0
34hypomagnesemia 1, intestinal10.0
35status epilepticus10.0
36kearns-sayre syndrome10.0
37hypercalcemia10.0
38conjunctivitis10.0
39hair disease10.0
40hyperparathyroidism10.0
41nonsyndromic deafness10.0
42hydrops fetalis10.0
43ring chromosome 810.0
44syndrome of inappropriate antidiuretic hormone10.0
45trisomy 3 mosaicism10.0
46polycystic kidney disease, autosomal dominant10.0SLC12A1, REN
47liver cirrhosis10.0AVP, REN, TALDO1
48metabolic acidosis9.9SLC12A1, REN
49primary hyperoxaluria9.7SLC12A1, REN, KCNJ1

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



Diseases related to bartter disease

Symptoms for Bartter Disease

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Symptoms:

 47
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • metabolic anomalies
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism

HPO human phenotypes related to Bartter Disease:

id Description Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis hallmark (90%) HP:0001939
2 short stature hallmark (90%) HP:0004322
3 abnormal renal physiology hallmark (90%) HP:0012211

Drugs & Therapeutics for Bartter Disease

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Drug clinical trials:

Search ClinicalTrials for Bartter Disease

Search NIH Clinical Center for Bartter Disease

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Bartter Disease

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Anatomical Context for Bartter Disease

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MalaCards organs/tissues related to Bartter Disease:

31
Kidney, Bone, Cortex, Adrenal cortex

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Bartter Disease:
id TissueAnatomical CompartmentCell Relevance
1 KidneyLoop of HenleLoop of Henle Cells Potential therapeutic candidate, affected by disease

Animal Models for Bartter Disease or affiliated genes

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MGI Mouse Phenotypes related to Bartter Disease:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.4SLC12A1, AVP, BSND, KCNJ1, CLCNKA, REN
2MP:00053787.7SLC12A2, SLC12A1, REN, KCNJ1, KCNJ12, BSND
3MP:00053857.4BSND, KCNJ12, KCNJ1, REN, SLC12A1, SLC12A2
4MP:00053867.3AVP, BSND, KCNJ12, KCNJ1, REN, SLC12A1
5MP:00053767.2AVP, BSND, KCNJ12, KCNJ1, CLCNKA, REN

Publications for Bartter Disease

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Articles related to Bartter Disease:

idTitleAuthorsYear
1
Cardiac arrhythmias due to severe hypokalemia in a patient with classic Bartter disease. (15338397)
2004
2
Neonatal Bartter disease diagnosed with the detection of a mutation of the KCNJ1 gene which codifies the synthesis of the renal ROMK1 potassium channel]. (11795013)
2001

Variations for Bartter Disease

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Clinvar genetic disease variations for Bartter Disease:

6
id Gene Variation Type Significance SNP ID Assembly Location
1CLCNKBNM_000085.4(CLCNKB): c.371C> T (p.Pro124Leu)single nucleotide variantPathogenicrs121909131GRCh37Chr 1, 16374412: 16374412
2CLCNKBNM_000085.4(CLCNKB): c.610G> A (p.Ala204Thr)single nucleotide variantPathogenicrs121909132GRCh37Chr 1, 16375032: 16375032
3CLCNKBNM_000085.4(CLCNKB): c.1312C> T (p.Arg438Cys)single nucleotide variantPathogenicrs121909133GRCh37Chr 1, 16378219: 16378219
4CLCNKBNM_000085.4(CLCNKB): c.1046C> A (p.Ala349Asp)single nucleotide variantPathogenicrs121909134GRCh37Chr 1, 16377088: 16377088
5CLCNKBNM_000085.4(CLCNKB): c.1294T> C (p.Tyr432His)single nucleotide variantPathogenicrs121909135GRCh37Chr 1, 16378039: 16378039
6CLCNKBCLCNKB, DELdeletionPathogenic
7CLCNKBCLCNKB, IVS7, A-G, -2single nucleotide variantPathogenic

Expression for genes affiliated with Bartter Disease

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Search GEO for disease gene expression data for Bartter Disease.

Pathways for genes affiliated with Bartter Disease

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Pathways related to Bartter Disease according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6BSND, CLCNKA, CLCNKB
2
Show member pathways
9.4KCNJ1, KCNJ12
38.8SLC12A1, BSND, CLCNKB, KCNJ1, CLCNKA
4
Show member pathways
8.3AVP, BSND, CLCNKB, SLC12A1, SLC12A2, CLCNKA

Compounds for genes affiliated with Bartter Disease

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Compounds related to Bartter Disease according to GeneCards Suite gene sharing:

(show all 24)
idCompoundScoreTop Affiliating Genes
13-phenyl-cpp2810.2CLCNKA, CLCNKB
2dids43 2811.1CLCNKA, CLCNKB
3niflumic acid43 28 1212.1CLCNKA, CLCNKB
4hydrochlorothiazide43 28 49 24 1213.9KCNJ1, REN
5piretanide28 1210.8SLC12A1, SLC12A2
6thiazide439.8SLC12A1, REN
7bumetanide43 59 28 49 1213.6SLC12A2, SLC12A1
8desmopressin43 59 28 1212.6REN, AVP
9p1075599.6KCNJ12, KCNJ1
10levcromakalim599.6KCNJ12, KCNJ1
11tertiapin-q599.6KCNJ12, KCNJ1
12diazoxide43 59 28 1212.4KCNJ1, KCNJ12
13potassium chloride43 1210.4SLC12A2, SLC12A1, REN
14furosemide43 59 28 49 24 1214.1BSND, REN, SLC12A1, SLC12A2
15forskolin43 49 1211.1SLC12A2, SLC12A1, REN
16glibenclamide43 28 49 5912.1KCNJ1, KCNJ12
17chlorine43 249.9BSND, CLCNKA, CLCNKB, SLC12A1, SLC12A2
18nitric oxide43 24 1210.8AVP, REN, SLC12A1, SLC12A2
19magnesium43 24 1210.6KCNJ12, KCNJ1, CLCNKA, CLCNKB, SLC12A1
20nacl438.2BSND, KCNJ1, CLCNKA, CLCNKB, REN, SLC12A1
21calcium43 49 24 1211.1AVP, BSND, CLCNKA, CLCNKB, REN, SLC12A1
22chloride437.9SLC12A2, AVP, BSND, KCNJ1, CLCNKA, CLCNKB
23sodium43 248.9AVP, BSND, KCNJ1, CLCNKA, CLCNKB, REN
24potassium43 24 129.4BSND, KCNJ12, KCNJ1, CLCNKA, CLCNKB, REN

GO Terms for genes affiliated with Bartter Disease

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Cellular components related to Bartter Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1chloride channel complexGO:00347079.6CLCNKB, CLCNKA
2integral component of plasma membraneGO:00058879.0SLC12A2, CLCNKB, CLCNKA, BSND
3plasma membraneGO:00058867.0SLC12A2, BSND, KCNJ12, KCNJ1, CLCNKA, CLCNKB

Biological processes related to Bartter Disease according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1regulation of anion transportGO:00440709.8CLCNKB, CLCNKA
2excretionGO:00075889.7KCNJ1, CLCNKA, CLCNKB
3sodium ion transportGO:00068149.5SLC12A2, SLC12A1
4chloride transmembrane transportGO:019024769.3SLC12A2, SLC12A1, BSND
5ion transmembrane transportGO:00342209.3SLC12A1, CLCNKB, CLCNKA, BSND
6potassium ion transmembrane transportGO:00718059.1KCNJ1, KCNJ12
7transportGO:00068108.9CLCNKA, CLCNKB, SLC12A1, SLC12A2
8potassium ion transportGO:00068138.6KCNJ12, KCNJ1, SLC12A1, SLC12A2
9transmembrane transportGO:00550858.5SLC12A2, SLC12A1, CLCNKB, CLCNKA, BSND, AVP

Molecular functions related to Bartter Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1adenyl nucleotide bindingGO:00305549.8CLCNKB, CLCNKA
2voltage-gated chloride channel activityGO:00052479.6CLCNKB, CLCNKA
3sodium:potassium:chloride symporter activityGO:00085119.5SLC12A2, SLC12A1
4inward rectifier potassium channel activityGO:00052429.4KCNJ1, KCNJ12

Products for genes affiliated with Bartter Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Bartter Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet