MCID: BRT004
MIFTS: 49

Bartter Disease malady

Endocrine diseases category

Summaries for Bartter Disease

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21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 kidney, bone and 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:46 241200,613090,607364,602522,601678

Aliases & Classifications for Bartter Disease

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8Disease Ontology, 21Genetics Home Reference, 10DISEASES, 60UMLS, 42NIH Rare Diseases, 44Novoseek, 46OMIM, 34MeSH, 39NCIt, 56SNOMED-CT, 27ICD9CM
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Classifications:

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


Aliases & Descriptions:

bartter disease 8 21 10 60
bartter's syndrome 8 42 21
aldosteronism with hyperplasia of the adrenal cortex 8 21
bartter syndrome 42 21
juxtaglomerular hyperplasia with secondary aldosteronism 21
hypokalemic alkalosis with hypercalciuria 42
potassium wasting 42
bartters syndrome 44


External Ids:

Disease Ontology8 DOID:445
MeSH34 D001477
SNOMED-CT56 71275003, 190506003
NCIt39 C34412
ICD9CM27 255.13

Related Diseases for Bartter Disease

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17GeneCards, 18GeneDecks
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Diseases in the Bartter Syndrome, Type 2 family:

bartter disease Bartter Syndrome Type 3
Bartter Syndrome Type 4 Bartter Syndrome Type 4b
Bartter Syndrome Type 4a Bartter Syndrome, Type 1

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

(show top 50)    (show all 59)
idRelated DiseaseScoreTop Affiliating Genes
1bartter syndrome type 330.9KCNJ1, REN, CLCNKB, SLC12A1, SLC12A3
2nephrocalcinosis30.4KCNJ1, CASR, CLCN5, CLCNKB, FXYD2, SLC12A1
3gitelman syndrome30.4KCNJ1, CASR, BSND, REN, CLCNKB, SLC12A1
4bartter syndrome, type 230.4KCNJ1, REN, SLC12A1
5nephrolithiasis30.1CLCNKB, CASR, CLCN5
6pseudohypoaldosteronism29.9SLC12A3, REN, KCNJ1
7hypertension29.9SLC12A3, AVP, REN
8polyhydramnios29.9KCNJ1, BSND, CLCNKB, SLC12A1
9hypokalemic periodic paralysis29.9KCNJ12, CLCN1
10hypokalemia29.9KCNJ1, CASR, BSND, REN, CLCNKB, SLC12A1
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
17syndromic diarrhea10.2
18diarrhea10.2
19hypocalcemia, autosomal dominant10.2
20bartter syndrome type 4b10.2
21renal tubular acidosis10.2
22focal segmental glomerulosclerosis10.1
23adult syndrome10.1
24focal glomerulosclerosis10.1
25cholelithiasis10.1
26syndrome of inappropriate antidiuretic hormone10.1
27bartter syndrome, type 4b, digenic10.1
28hypocalcemia, autosomal dominant, with bartter syndrome10.1
29bartter syndrome, type 110.1
30leptospirosis10.0
31fanconi syndrome10.0
32fanconi renotubular syndrome 210.0
33diabetes insipidus10.0AVP
34pneumonia10.0AVP
35neurogenic diabetes insipidus10.0AVP
36status epilepticus10.0
37inappropriate adh syndrome10.0
38kearns-sayre syndrome10.0
39chromosomal disease10.0
40conjunctivitis10.0
41hair disease10.0
42nonsyndromic deafness10.0
43hypomagnesemia 1, intestinal10.0
44hypophosphatemia10.0CLCN5
45osteopetrosis10.0CLCN7
46dent's disease10.0CLCN5, CLCNKB
47fallopian tube cancer10.0SLC12A3, CLCN5
48pseudohypoaldosteronism type ii10.0REN, SLC12A3
49hyperaldosteronism10.0KCNJ1, REN, CLCNKB, SLC12A3
50hyperparathyroidism10.0CASR

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



Diseases related to bartter disease

Clinical Features for Bartter Disease

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46OMIM
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Clinical features from OMIM:

241200,613090,607364,602522,601678

Drugs & Therapeutics for Bartter Disease

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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 UMLS60/NDF-RT40:

Genetic Tests for Bartter Disease

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Anatomical Context for Bartter Disease

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Sources:
30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Bartter Disease:

32
Kidney, Bone, 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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36MGI
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MGI Mouse Phenotypes related to Bartter Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053677.9SLC12A3, KCNJ1, CASR, BSND, REN, CLCNKA
2MP:00053787.2KCNJ1, CASR, BSND, REN, CLCN7, CLCN1
3MP:00053766.8REN, BSND, CASR, KCNJ1, KCNJ12, CLCNKA
4MP:00053866.7KCNJ12, KCNJ1, CASR, BSND, REN, CLCN7

Publications for Bartter Disease

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50PubMed
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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
Cardiac arrhythmias due to severe hypokalemia in a patient with classic Bartter disease. (15338397)
2004
4
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
5
Kinky hair disease with suspected pseudo-Bartter syndrome. (4061786)
1985

Genetic Variations for Bartter Disease

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Expression for genes affiliated with Bartter Disease

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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

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29KEGG, 53Reactome, 51QIAGEN, 49PharmGKB
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Compounds for genes affiliated with Bartter Disease

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28IUPHAR, 44Novoseek, 11DrugBank, 49PharmGKB, 59Tocris Bioscience, 24HMDB
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Compounds related to Bartter Disease according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
13-phenyl-cpp2810.3CLCNKB, CLCNKA
2bendroflumethiazide44 1111.1REN, SLC12A3
3dids44 2811.0CLCNKA, CLCN7, CLCNKB
4niflumic acid44 28 1112.0CLCNKA, CLCN1, CLCNKB
5forskolin44 49 1111.9REN
6piretanide28 1110.9SLC12A2, SLC12A1
7nppb44 59 2811.9CLCN7, CLCN5
8hydrochlorothiazide44 49 28 11 2413.8CASR, REN, SLC12A3
9Quinethazone119.7SLC12A1, SLC12A3, SLC12A2
10bumetanide44 59 28 1112.7SLC12A2, SLC12A3, SLC12A1
11potassium chloride44 1110.6REN, SLC12A1, SLC12A2
12thiazide449.6CASR, REN, SLC12A1, SLC12A3
13tertiapin-q599.6KCNJ1, KCNJ12
14levcromakalim599.5KCNJ1, KCNJ12
15p1075599.5KCNJ1, KCNJ12
16diazoxide44 59 28 1112.4SLC12A3, KCNJ1, KCNJ12
17furosemide44 49 59 28 11 2414.2BSND, REN, SLC12A1, SLC12A3, SLC12A2
18nitric oxide44 11 2410.8SLC12A2, SLC12A1, AVP, REN, CASR
19chlorine44 249.3BSND, SLC12A2, SLC12A3, SLC12A1, CLCNKB, CLCN5
20nacl448.3KCNJ1, CASR, BSND, REN, CLCNKA, CLCNKB
21magnesium44 11 249.9KCNJ12, KCNJ1, CASR, UCK2, CLCNKA, CLCNKB
22calcium44 49 11 2410.8CASR, BSND, REN, CLCNKA, CLCN5, CLCNKB
23sodium44 248.6CLCNKB, CLCN1, CLCNKA, REN, BSND, CASR
24potassium44 11 249.4KCNJ12, KCNJ1, CASR, BSND, REN, CLCNKA
25chloride446.9SLC12A2, SLC12A3, SLC12A1, AVP, CLCNKB, CLCN5

GO Terms for genes affiliated with Bartter Disease

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16Gene Ontology
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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

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Sources for Bartter Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet