MCID: BRT004
MIFTS: 54

Bartter Disease malady

Genetic diseases, Rare diseases, Nephrological diseases, Endocrine diseases, Ear diseases, Fetal diseases categories
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Summaries for Bartter Disease

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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 based summary: Bartter Disease, also known as aldosteronism with hyperplasia of the adrenal cortex, 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 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.

Descriptions from OMIM:46 601678,607364,613090,602522,241200

Aliases & Classifications for Bartter Disease

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Bartter Disease, Aliases & Descriptions:

Name: Bartter Disease 30 8 21 10 62
Aldosteronism with Hyperplasia of the Adrenal Cortex 8 21 62
Bartter's Syndrome 8 42 21
Juxtaglomerular Hyperplasia with Secondary Aldosteronism 21 62
 
Bartters Syndrome 44 62
Bartter Syndrome 42 21
Hypokalemic Alkalosis with Hypercalciuria 42
Potassium Wasting 42


Classifications:



External Ids:

Disease Ontology8 DOID:445
ICD9CM27 255.13
SNOMED-CT57 71275003, 190506003
MeSH34 D001477
NCIt39 C34412

Related Diseases for Bartter Disease

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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 all 50)
idRelated DiseaseScoreTop Affiliating Genes
1bartter syndrome type 330.8KCNJ1, CLCNKB, SLC12A1, REN
2nephrocalcinosis30.7KCNJ1, CLCNKB, SLC12A1
3bartter syndrome, type 230.6KCNJ1, SLC12A1, REN
4pseudohypoaldosteronism30.3KCNJ1, REN
5polyhydramnios30.0SLC12A1, KCNJ1, BSND, CLCNKB
6gitelman syndrome29.9BSND, SLC12A1, REN, CLCNKB, KCNJ1
7hypokalemia29.6KCNJ1, BSND, SLC12A1, REN, CLCNKB
8diabetes insipidus10.4AVP
9cystinosis10.4
10bartter syndrome antenatal type 110.4
11bartter syndrome type 4a10.4
12bartter syndrome antenatal type 210.4
13bartter syndrome type 410.4
14congenital chloride diarrhea10.3
15diarrhea10.3
16growth hormone deficiency10.3
17hypocalcemia, autosomal dominant10.3
18bartter syndrome type 4b10.3
19bartter syndrome, type 110.3
20renal tubular acidosis10.2
21sensorineural hearing loss10.2BSND, CLCNKB
22focal segmental glomerulosclerosis10.2
23nephrolithiasis10.2
24cholelithiasis10.2
25glomerulosclerosis10.2
26syndrome of inappropriate antidiuretic hormone10.2
27bartter syndrome, type 4b, digenic10.2
28hypocalcemia, autosomal dominant, with bartter syndrome10.2
29congestive heart failure10.1AVP, REN
30nephrogenic diabetes insipidus10.1AVP, SLC12A1
31hyperaldosteronism10.1CLCNKB, REN, KCNJ1
32leptospirosis10.1
33fanconi syndrome10.1
34fanconi renotubular syndrome 210.1
35hypertension10.0
36hypokalemic periodic paralysis10.0
37status epilepticus10.0
38kearns-sayre syndrome10.0
39inappropriate adh syndrome10.0
40conjunctivitis10.0
41hair disease10.0
42nonsyndromic deafness10.0
43hydrops fetalis10.0
44ring chromosome 810.0
45trisomy 3 mosaicism10.0
46hypomagnesemia 1, intestinal10.0
47polycystic kidney disease, autosomal dominant10.0REN, SLC12A1
48liver cirrhosis10.0AVP, TALDO1, REN
49metabolic acidosis9.9REN, SLC12A1
50primary hyperoxaluria9.7REN, KCNJ1, SLC12A1

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



Diseases related to bartter disease

Symptoms for Bartter Disease

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Clinical features from OMIM:

601678,607364,613090,602522,241200

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 UMLS62/NDF-RT40:

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:

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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MGI Mouse Phenotypes related to Bartter Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5AVP, BSND, KCNJ1, CLCNKA, REN, SLC12A1
2MP:00053787.7BSND, KCNJ12, KCNJ1, REN, SLC12A1, SLC12A2
3MP:00053857.4SLC12A2, SLC12A1, REN, KCNJ1, KCNJ12, BSND
4MP:00053867.3AVP, BSND, KCNJ12, KCNJ1, REN, SLC12A1
5MP:00053767.2REN, CLCNKA, KCNJ1, KCNJ12, BSND, AVP

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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Expression for genes affiliated with Bartter Disease

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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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Pathways related to Bartter Disease according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Bartter Disease

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Compounds related to Bartter Disease according to GeneCards/GeneDecks:

(show all 24)
idCompoundScoreTop Affiliating Genes
13-phenyl-cpp2810.1CLCNKA, CLCNKB
2dids44 2811.1CLCNKA, CLCNKB
3niflumic acid44 28 1112.0CLCNKA, CLCNKB
4hydrochlorothiazide44 28 50 24 1113.9KCNJ1, REN
5piretanide28 1110.8SLC12A1, SLC12A2
6thiazide449.8SLC12A1, REN
7p1075619.7KCNJ12, KCNJ1
8bumetanide44 61 28 50 1113.6SLC12A2, SLC12A1
9desmopressin44 61 28 1112.6REN, AVP
10levcromakalim619.6KCNJ12, KCNJ1
11tertiapin-q619.6KCNJ12, KCNJ1
12diazoxide44 61 28 1112.5KCNJ1, KCNJ12
13potassium chloride44 1110.4SLC12A2, SLC12A1, REN
14furosemide44 61 28 50 24 1114.1BSND, REN, SLC12A1, SLC12A2
15forskolin44 50 1111.1SLC12A2, SLC12A1, REN
16glibenclamide44 28 50 6112.1KCNJ1, KCNJ12
17chlorine44 249.9BSND, CLCNKA, CLCNKB, SLC12A1, SLC12A2
18nitric oxide44 24 1110.8AVP, REN, SLC12A1, SLC12A2
19magnesium44 24 1110.6KCNJ12, KCNJ1, CLCNKA, CLCNKB, SLC12A1
20nacl448.2BSND, KCNJ1, CLCNKA, CLCNKB, REN, SLC12A1
21calcium44 50 24 1111.1AVP, BSND, CLCNKA, CLCNKB, REN, SLC12A1
22chloride447.9SLC12A2, AVP, BSND, KCNJ1, CLCNKA, CLCNKB
23sodium44 248.9AVP, BSND, KCNJ1, CLCNKA, CLCNKB, REN
24potassium44 24 119.4BSND, 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/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:0075889.7CLCNKA, CLCNKB, KCNJ1
3sodium ion transportGO:0068149.5SLC12A2, SLC12A1
4chloride transmembrane transportGO:19024769.3SLC12A2, SLC12A1, BSND
5ion transmembrane transportGO:0342209.2BSND, CLCNKB, SLC12A1, CLCNKA
6potassium ion transmembrane transportGO:0718059.1KCNJ1, KCNJ12
7transportGO:0068108.9SLC12A2, SLC12A1, CLCNKB, CLCNKA
8potassium ion transportGO:0068138.6SLC12A1, KCNJ1, KCNJ12, 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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet