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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22Genetics Home Reference, 44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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: Bartter Disease, also known as bartter's syndrome, is related to bartter syndrome type 3 and nephrocalcinosis. An important gene associated with Bartter Disease is KCNJ1 (potassium inwardly-rectifying channel, subfamily J, member 1), 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 bone, kidney and cortex, and related mouse phenotypes are renal/urinary system and growth/size/body.

Genetics Home Reference:22 Bartter syndrome is a group of very similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body.

Description from OMIM:48 602522,607364,601678,241200,613090

Aliases & Classifications for Bartter Disease

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9Disease Ontology, 44NIH Rare Diseases, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 63UMLS, 48OMIM, 36MeSH, 28ICD9CM, 41NCIt, 59SNOMED-CT
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Classifications:



Aliases & Descriptions:

bartter disease 9 22 11 63
bartter's syndrome 9 44 22
aldosteronism with hyperplasia of the adrenal cortex 9 22
bartter syndrome 44 22
juxtaglomerular hyperplasia with secondary aldosteronism 22
hypokalemic alkalosis with hypercalciuria 44
potassium wasting 44
bartters syndrome 46


External Ids:

Disease Ontology9 DOID:445
MeSH36 D001477
SNOMED-CT59 71275003, 190506003
ICD9CM28 255.13
NCIt41 C34412

Related Diseases for Bartter Disease

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18GeneCards, 19GeneDecks
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Diseases in the Bartter Syndrome Type 3 family:

bartter disease Bartter Syndrome Type 4
Bartter Syndrome Type 4b Bartter Syndrome Type 4a
Bartter Syndrome, Type 2 Bartter Syndrome, Type 1

Diseases related to Bartter Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1bartter syndrome type 331.0KCNJ1, CLCNKB, REN, SLC12A1
2nephrocalcinosis30.6SLC12A1, CLCNKB, KCNJ1
3bartter syndrome, type 230.5SLC12A1, REN, KCNJ1
4gitelman syndrome30.2BSND, KCNJ1, CLCNKB, REN, SLC12A1
5pseudohypoaldosteronism30.1KCNJ1, REN
6polyhydramnios30.0BSND, KCNJ1, CLCNKB, SLC12A1
7hypokalemia29.9BSND, KCNJ1, CLCNKB, REN, SLC12A1
8cystinosis10.4
9bartter syndrome antenatal type 110.4
10bartter syndrome type 4a10.4
11bartter syndrome antenatal type 210.4
12bartter syndrome type 410.4
13congenital chloride diarrhea10.3
14diarrhea10.3
15growth hormone deficiency10.3
16hypocalcemia, autosomal dominant10.3
17bartter syndrome type 4b10.3
18bartter syndrome, type 110.3
19renal tubular acidosis10.2
20focal segmental glomerulosclerosis10.2
21nephrolithiasis10.2
22cholelithiasis10.2
23glomerulosclerosis10.2
24syndrome of inappropriate antidiuretic hormone10.2
25bartter syndrome, type 4b, digenic10.2
26hypocalcemia, autosomal dominant, with bartter syndrome10.2
27diabetes insipidus10.1AVP
28leptospirosis10.1
29fanconi syndrome10.1
30fanconi renotubular syndrome 210.1
31sensorineural hearing loss10.0CLCNKB, BSND
32congestive heart failure10.0REN, AVP
33nephrogenic diabetes insipidus10.0AVP, SLC12A1
34hyperaldosteronism10.0REN, CLCNKB, KCNJ1
35status epilepticus10.0
36kearns-sayre syndrome10.0
37inappropriate adh syndrome10.0
38hypokalemic periodic paralysis10.0
39conjunctivitis10.0
40hair disease10.0
41hypertension10.0
42nonsyndromic deafness10.0
43hydrops fetalis10.0
44ring chromosome 810.0
45trisomy 3 mosaicism10.0
46hypomagnesemia 1, intestinal10.0
47polycystic kidney disease, autosomal dominant10.0SLC12A1, REN
48liver cirrhosis10.0AVP, REN, TALDO1
49metabolic acidosis10.0SLC12A1, REN
50primary hyperoxaluria9.9SLC12A1, 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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48OMIM
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Clinical features from OMIM:

602522,607364,601678,241200,613090

Drugs & Therapeutics for Bartter Disease

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Bartter Disease

Drug clinical trials:

Search ClinicalTrials for Bartter Disease

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Search CenterWatch for Bartter Disease

Inferred drug relations via UMLS63/NDF-RT42:

Genetic Tests for Bartter Disease

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Anatomical Context for Bartter Disease

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Sources:
32LifeMap Discovery™, 34MalaCards
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MalaCards organs/tissues related to Bartter Disease:

34
Bone, Kidney, Cortex, Adrenal cortex

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

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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38MGI
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MGI Mouse Phenotypes related to Bartter Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5SLC12A1, 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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53PubMed
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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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Expression for genes affiliated with Bartter Disease

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Bartter Disease

Search GEO for disease gene expression data for Bartter Disease.

Pathways for genes affiliated with Bartter Disease

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51PathCards, 13EMD Millipore, 56Reactome, 52PharmGKB
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Pathways related to Bartter Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7REN, AVP
2
Show member pathways
9.5CLCNKB, CLCNKA, BSND
39.4KCNJ1, KCNJ12
4
Show member pathways
9.4KCNJ12, KCNJ1
58.8SLC12A1, CLCNKB, CLCNKA, KCNJ1, BSND
6
Show member pathways
8.2AVP, BSND, CLCNKA, CLCNKB, SLC12A1, SLC12A2

Compounds for genes affiliated with Bartter Disease

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30IUPHAR, 46Novoseek, 12DrugBank, 52PharmGKB, 25HMDB, 62Tocris Bioscience
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Compounds related to Bartter Disease according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
13-phenyl-cpp3010.1CLCNKA, CLCNKB
2dids46 3011.1CLCNKA, CLCNKB
3niflumic acid46 30 1212.0CLCNKA, CLCNKB
4hydrochlorothiazide46 30 52 25 1213.9KCNJ1, REN
5piretanide30 1210.8SLC12A1, SLC12A2
6thiazide469.8SLC12A1, REN
7p1075629.7KCNJ12, KCNJ1
8bumetanide46 62 30 52 1213.6SLC12A2, SLC12A1
9desmopressin46 62 30 1212.6REN, AVP
10levcromakalim629.6KCNJ12, KCNJ1
11tertiapin-q629.6KCNJ12, KCNJ1
12diazoxide46 62 30 1212.5KCNJ1, KCNJ12
13potassium chloride46 1210.4SLC12A2, SLC12A1, REN
14furosemide46 62 30 52 25 1214.1BSND, REN, SLC12A1, SLC12A2
15forskolin46 52 1211.1SLC12A2, SLC12A1, REN
16glibenclamide46 30 52 6212.1KCNJ1, KCNJ12
17chlorine46 259.9BSND, CLCNKA, CLCNKB, SLC12A1, SLC12A2
18nitric oxide46 25 1210.8AVP, REN, SLC12A1, SLC12A2
19magnesium46 25 1210.6KCNJ12, KCNJ1, CLCNKA, CLCNKB, SLC12A1
20nacl468.2BSND, KCNJ1, CLCNKA, CLCNKB, REN, SLC12A1
21calcium46 52 25 1211.1AVP, BSND, CLCNKA, CLCNKB, REN, SLC12A1
22chloride467.9SLC12A2, AVP, BSND, KCNJ1, CLCNKA, CLCNKB
23sodium46 258.9AVP, BSND, KCNJ1, CLCNKA, CLCNKB, REN
24potassium46 25 129.4BSND, KCNJ12, KCNJ1, CLCNKA, CLCNKB, REN

GO Terms for genes affiliated with Bartter Disease

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17Gene Ontology
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Cellular components related to Bartter Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chloride channel complexGO:0347079.5CLCNKB, CLCNKA
2integral component of plasma membraneGO:0058879.0SLC12A2, CLCNKB, CLCNKA, BSND
3plasma membraneGO:0058867.0SLC12A2, BSND, KCNJ12, KCNJ1, CLCNKA, CLCNKB

Biological processes related to Bartter Disease according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1regulation of anion transportGO:0440709.7CLCNKB, CLCNKA
2excretionGO:0075889.7KCNJ1, CLCNKA, CLCNKB
3sodium ion transportGO:0068149.5SLC12A2, SLC12A1
4chloride transmembrane transportGO:19024769.3SLC12A2, SLC12A1, BSND
5ion transmembrane transportGO:0342209.2SLC12A1, CLCNKB, CLCNKA, BSND
6potassium ion transmembrane transportGO:0718059.1KCNJ1, KCNJ12
7transportGO:0068108.9CLCNKA, CLCNKB, SLC12A1, SLC12A2
8potassium ion transportGO:0068138.6KCNJ12, KCNJ1, SLC12A1, SLC12A2
9transmembrane transportGO:0550858.4SLC12A2, SLC12A1, CLCNKB, CLCNKA, BSND, AVP

Molecular functions related to Bartter Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1adenyl nucleotide bindingGO:0305549.7CLCNKB, CLCNKA
2voltage-gated chloride channel activityGO:0052479.5CLCNKB, CLCNKA
3sodium:potassium:chloride symporter activityGO:0085119.5SLC12A2, SLC12A1
4inward rectifier potassium channel activityGO:0052429.4KCNJ1, KCNJ12

Products for genes affiliated with Bartter Disease

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Sources for Bartter Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet