MCID: BRT004
MIFTS: 48

Bartter Disease malady

Endocrine category

Summaries for Bartter Disease

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 Gastric acid secretion and Cation-coupled Chloride cotransporters. The drugs captopril and enalapril and the compounds 3-phenyl-cpp and bendroflumethiazide have been mentioned in the context of this disorder. Affiliated tissues include cortex, kidney and adrenal cortex, and related mouse phenotypes are renal/urinary system and growth/size.

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.

Description from OMIM:47 241200,613090,607364,602522,601678

Aliases & Classifications for Bartter Disease

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 61UMLS, 47OMIM, 35MeSH, 40NCIt, 57SNOMED-CT, 27ICD9CM
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Endocrine


Aliases & Descriptions:

bartter disease 8 21 10 61
bartter's syndrome 8 43 21
aldosteronism with hyperplasia of the adrenal cortex 8 21
bartter syndrome 43 21
juxtaglomerular hyperplasia with secondary aldosteronism 21
hypokalemic alkalosis with hypercalciuria 43
potassium wasting 43
bartters syndrome 45


External Ids:

Disease Ontology8 DOID:445
MeSH35 D001477
SNOMED-CT57 71275003, 190506003
NCIt40 C34412
ICD9CM27 255.13

Related Diseases for Bartter Disease

Sources:
17GeneCards, 18GeneDecks
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Diseases in the Bartter Disease family:

bartter syndrome type 3 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 top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1bartter syndrome type 330.9KCNJ1, REN, CLCNKB, SLC12A1, SLC12A3
2nephrocalcinosis30.5KCNJ1, CASR, CLCN5, CLCNKB, FXYD2, SLC12A1
3gitelman syndrome30.5KCNJ1, CASR, BSND, REN, CLCNKB, SLC12A1
4bartter syndrome, type 230.4KCNJ1, REN, SLC12A1
5nephrolithiasis30.2CLCNKB, CASR, CLCN5
6pseudohypoaldosteronism30.0SLC12A3, REN, KCNJ1
7hypokalemia30.0KCNJ1, CASR, BSND, REN, CLCNKB, SLC12A1
8polyhydramnios30.0KCNJ1, BSND, CLCNKB, SLC12A1
9hypokalemic periodic paralysis30.0KCNJ12, CLCN1
10n syndrome10.7
11cystinosis10.4
12bartter syndrome antenatal type 110.4
13bartter syndrome antenatal type 210.3
14bartter syndrome type 410.3
15bartter syndrome type 4a10.3
16congenital chloride diarrhea10.3
17hypocalcemia, autosomal dominant10.3
18growth hormone deficiency10.2
19bartter syndrome type 4b10.2
20renal tubular acidosis10.2
21focal segmental glomerulosclerosis10.1
22adult syndrome10.1
23focal glomerulosclerosis10.1
24cholelithiasis10.1
25syndrome of inappropriate antidiuretic hormone10.1
26bartter syndrome, type 4b, digenic10.1
27hypocalcemia, autosomal dominant, with bartter syndrome10.1
28bartter syndrome, type 110.1
29leptospirosis10.1
30fanconi syndrome10.1
31renal tubular acidosis, distal10.1
32fanconi renotubular syndrome 210.1
33status epilepticus10.0
34inappropriate adh syndrome10.0
35kearns-sayre syndrome10.0
36hirschsprung's disease10.0
37say syndrome10.0
38hydrops fetalis10.0
39kid syndrome10.0
40hypomagnesemia 1, intestinal10.0
41diabetes insipidus10.0AVP
42pneumonia10.0AVP
43neurogenic diabetes insipidus10.0AVP
44hypophosphatemia10.0CLCN5
45osteopetrosis10.0CLCN7
46dent's disease10.0CLCN5, CLCNKB
47fallopian tube cancer10.0SLC12A3, CLCN5
48pseudohypoaldosteronism type ii10.0REN, SLC12A3
49hypertension10.0SLC12A3, AVP, REN
50hyperaldosteronism10.0KCNJ1, REN, CLCNKB, SLC12A3

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



Diseases related to bartter disease

Clinical Features for Bartter Disease

Sources:
47OMIM
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Clinical features from OMIM:

241200,613090,607364,602522,601678

Drugs & Therapeutics for Bartter Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Bartter Disease

Drug clinical trials:

Search ClinicalTrials for Bartter Disease

Search NIH Clinical Center for Bartter Disease

Search CenterWatch for Bartter Disease

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Bartter Disease

Anatomical Context for Bartter Disease

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Bartter Disease:

33
Cortex, Kidney, 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

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Bartter Disease

Sources:
51PubMed
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Articles related to Bartter Disease:

idTitleAuthorsYear
1
Disease-causing dysfunctions of barttin in Bartter syndrome type IV. (18776122)
2009
2
Pseudo-Bartter syndrome due to Hirschsprung disease in a neonate with an extra ring chromosome 8. (17853456)
2007
3
How Bartter's and Gitelman's syndromes, and Dent's disease have provided important insights into the function of three renal chloride channels: ClC-Ka/b and ClC-5. (16352917)
2006
4
Cardiac arrhythmias due to severe hypokalemia in a patient with classic Bartter disease. (15338397)
2004
5
Molecular mechanism of a COOH-terminal gating determinant in the ROMK channel revealed by a Bartter's disease mutation. (12381810)
2002
6
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
7
Molecular pathology of renal chloride channels in Dent's disease and Bartter's syndrome. (11014932)
2000
8
Kinky hair disease with suspected pseudo-Bartter syndrome. (4061786)
1985
9
The structure of the juxtaglomerular apparatus in Addison's disease, Bartter's syndrome, and in Conn's syndrome: a comparative, morphometric, light microscopic study on serial secions. (818792)
1976

Genetic Variations for Bartter Disease

Expression for genes affiliated with Bartter Disease

Sources:
1BioGPS, 15Gene 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

Sources:
30KEGG, 54Reactome, 52QIAGEN, 50PharmGKB
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Compounds for genes affiliated with Bartter Disease

Sources:
29IUPHAR, 45Novoseek, 11DrugBank, 50PharmGKB, 60Tocris Bioscience, 24HMDB
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Compounds related to Bartter Disease according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
13-phenyl-cpp2910.3CLCNKB, CLCNKA
2bendroflumethiazide45 1111.1REN, SLC12A3
3dids45 2911.0CLCNKA, CLCN7, CLCNKB
4niflumic acid45 29 1112.0CLCNKA, CLCN1, CLCNKB
5forskolin45 50 1111.9REN
6piretanide29 1110.9SLC12A2, SLC12A1
7nppb45 60 2911.9CLCN7, CLCN5
8hydrochlorothiazide45 50 29 11 2413.8CASR, REN, SLC12A3
9Quinethazone119.7SLC12A1, SLC12A3, SLC12A2
10bumetanide45 60 29 1112.7SLC12A2, SLC12A3, SLC12A1
11potassium chloride45 1110.6REN, SLC12A1, SLC12A2
12thiazide459.6CASR, REN, SLC12A1, SLC12A3
13tertiapin-q609.6KCNJ1, KCNJ12
14levcromakalim609.5KCNJ1, KCNJ12
15p1075609.5KCNJ1, KCNJ12
16diazoxide45 60 29 1112.4SLC12A3, KCNJ1, KCNJ12
17furosemide45 50 60 29 11 2414.2BSND, REN, SLC12A1, SLC12A3, SLC12A2
18nitric oxide45 11 2410.8SLC12A2, SLC12A1, AVP, REN, CASR
19chlorine45 249.3BSND, SLC12A2, SLC12A3, SLC12A1, CLCNKB, CLCN5
20nacl458.3KCNJ1, CASR, BSND, REN, CLCNKA, CLCNKB
21magnesium45 11 249.9KCNJ12, KCNJ1, CASR, UCK2, CLCNKA, CLCNKB
22calcium45 50 11 2410.8CASR, BSND, REN, CLCNKA, CLCN5, CLCNKB
23sodium45 248.6CLCNKB, CLCN1, CLCNKA, REN, BSND, CASR
24potassium45 11 249.4KCNJ12, KCNJ1, CASR, BSND, REN, CLCNKA
25chloride456.9SLC12A2, SLC12A3, SLC12A1, AVP, CLCNKB, CLCN5

GO Terms for genes affiliated with Bartter Disease

Sources:
16Gene Ontology
See all sources

Cellular components related to Bartter Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basolateral plasma membraneGO:0163239.6SLC12A2, FXYD2, BSND
2chloride channel complexGO:0347079.5CLCNKA, CLCN1, CLCNKB
3integral to plasma membraneGO:0058878.2SLC12A2, CASR, BSND, CLCNKA, CLCN1, CLCN5
4plasma membraneGO:0058866.5KCNJ12, KCNJ1, CASR, BSND, REN, CLCNKA

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1excretionGO:0075889.6KCNJ1, CLCNKA, CLCN5, CLCNKB
2sodium ion transportGO:0068149.4SLC12A2, SLC12A3, SLC12A1
3ion transportGO:0068118.9SLC12A2, SLC12A3, SLC12A1, FXYD2
4ion transmembrane transportGO:0342208.6BSND, CLCNKA, CLCN7, CLCN1, CLCN5, CLCNKB
5potassium ion transportGO:0068138.5KCNJ12, KCNJ1, SLC12A1, SLC12A2
6transportGO:0068108.0CLCNKA, CLCN7, CLCN1, CLCN5, CLCNKB, FXYD2
7transmembrane transportGO:0550857.7SLC12A2, BSND, CLCNKA, CLCN7, CLCN1, CLCN5

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

idNameGO IDScoreTop Affiliating Genes
1adenyl nucleotide bindingGO:0305549.8CLCNKA, CLCN1, CLCNKB
2antiporter activityGO:0152979.7CLCN5, CLCN7
3sodium:potassium:chloride symporter activityGO:0085119.5SLC12A2, SLC12A1
4chloride channel activityGO:0052549.5BSND, CLCN7, CLCN1, CLCN5
5inward rectifier potassium channel activityGO:0052429.5KCNJ1, KCNJ12
6voltage-gated chloride channel activityGO:0052479.4CLCNKB, CLCN5, CLCN1, CLCN7, CLCNKA

Products for genes affiliated with Bartter Disease

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Bartter Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet