MCID: BRT034
MIFTS: 42

Bartter Syndrome, Type 2 malady

Nephrological diseases category

Summaries for Bartter Syndrome, Type 2

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46OMIM, 32MalaCards
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MalaCards: Bartter Syndrome, Type 2, also known as hypokalemic alkalosis - hypercalciuria, is related to bartter disease and nephrocalcinosis, and has symptoms including pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria, metabolic anomalies and autosomal recessive inheritance. An important gene associated with Bartter Syndrome, Type 2 is KCNJ1 (potassium inwardly-rectifying channel, subfamily J, member 1), and among its related pathways are Diuretics Pathway, Pharmacodynamics and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The compounds bumetanide and drospirenone have been mentioned in the context of this disorder. Related mouse phenotypes are renal/urinary system and cardiovascular system.

Description from OMIM:46 241200, 601678, 602522, 607364, 613090 601198 more

Aliases & Classifications for Bartter Syndrome, Type 2

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48Orphanet, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
hypokalemic alkalosis - hypercalciuria:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Variable; Age of death: Normal
hyperprostaglandin e syndrome:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


Aliases & Descriptions:

bartter syndrome, type 2 46
hypokalemic alkalosis - hypercalciuria 48
hyperprostaglandin e syndrome 48
antenatal bartter syndrome 48
bartter syndrome 48


External Ids:

MESH via Orphanet35 D001477
ICD10 via Orphanet26 E26.8
SNOMED-CT via Orphanet57 71275003
UMLS via Orphanet61 C0004775

Related Diseases for Bartter Syndrome, Type 2

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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 Syndrome, Type 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1bartter disease30.8KCNJ1, SLC12A1
2nephrocalcinosis30.4KCNJ1, SLC12A1
3gitelman syndrome30.4KCNJ1, REN, SLC12A1
4bartter syndrome type 330.2REN, KCNJ1, SLC12A1
5hypertension29.9REN
6polyhydramnios29.9SLC12A1, KCNJ1
7pseudohypoaldosteronism29.9KCNJ1, REN
8hypokalemia29.9KCNJ1, SLC12A1, REN
9cystinosis10.4
10bartter syndrome antenatal type 110.4
11bartter syndrome antenatal type 210.3
12bartter syndrome type 410.3
13bartter syndrome type 4a10.3
14congenital chloride diarrhea10.3
15syndromic diarrhea10.2
16diarrhea10.2
17hypocalcemia, autosomal dominant10.2
18bartter syndrome type 4b10.2
19focal segmental glomerulosclerosis10.1
20nephrolithiasis10.1
21adult syndrome10.1
22focal glomerulosclerosis10.1
23cholelithiasis10.1
24syndrome of inappropriate antidiuretic hormone10.1
25bartter syndrome, type 4b, digenic10.1
26hypocalcemia, autosomal dominant, with bartter syndrome10.1
27bartter syndrome, type 110.1
28status epilepticus10.0
29inappropriate adh syndrome10.0
30kearns-sayre syndrome10.0
31hypokalemic periodic paralysis10.0
32chromosomal disease10.0
33conjunctivitis10.0
34hair disease10.0
35nonsyndromic deafness10.0
36hypomagnesemia 1, intestinal10.0
37nephrogenic diabetes insipidus10.0SLC12A1
38cystic fibrosis10.0KCNJ1
39proteinuria10.0REN
40sensorineural hearing loss10.0SLC12A1, KCNJ1
41hyperaldosteronism10.0KCNJ1, REN
42stroke, ischemic10.0REN
43polycystic kidney disease, autosomal dominant10.0REN, SLC12A1
44essential hypertension10.0SLC12A1, REN
45metabolic acidosis10.0REN, SLC12A1
46primary hyperoxaluria10.0REN, SLC12A1, KCNJ1

Graphical network of the top 20 diseases related to Bartter Syndrome, Type 2:



Diseases related to bartter syndrome, type 2

Clinical Features for Bartter Syndrome, Type 2

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

241200,601678,602522,607364,613090,601198

Clinical synopsis from OMIM:

241200

Symptoms:

48
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • metabolic anomalies
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism

Drugs & Therapeutics for Bartter Syndrome, Type 2

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Bartter Syndrome, Type 2

Drug clinical trials:

Search ClinicalTrials for Bartter Syndrome, Type 2

Search NIH Clinical Center for Bartter Syndrome, Type 2

Search CenterWatch for Bartter Syndrome, Type 2

Genetic Tests for Bartter Syndrome, Type 2

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Anatomical Context for Bartter Syndrome, Type 2

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Animal Models for Bartter Syndrome, Type 2 or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Bartter Syndrome, Type 2:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.1KCNJ1, REN, SLC12A1, PTGS2
2MP:00053858.1PTGS2, SLC12A1, REN, KCNJ1
3MP:00053978.1REN, SLC12A1, PTGS2, KCNJ1
4MP:00053868.0SLC12A1, KCNJ1, PTGS2, REN
5MP:00107688.0SLC12A1, PTGS2, REN, KCNJ1
6MP:00053787.9PTGS2, REN, KCNJ1, SLC12A1
7MP:00053767.7PTGS2, SLC12A1, KCNJ1, REN

Publications for Bartter Syndrome, Type 2

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Genetic Variations for Bartter Syndrome, Type 2

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Bartter Syndrome, Type 2:

62 (show all 13)
id Symbol AA change Variation ID SNP ID
1KCNJ1p.Val72GluVAR_001548
2KCNJ1p.Asp74TyrVAR_001549
3KCNJ1p.Trp99CysVAR_001550
4KCNJ1p.Asp108HisVAR_001551
5KCNJ1p.Pro110LeuVAR_001552
6KCNJ1p.Val122GluVAR_001553
7KCNJ1p.Gly167GluVAR_001554
8KCNJ1p.Ala198ThrVAR_001555
9KCNJ1p.Val315GlyVAR_001556
10KCNJ1p.Asn124LysVAR_019724
11KCNJ1p.Ala214ValVAR_019725
12KCNJ1p.Ser219ArgVAR_019726
13KCNJ1p.Met357ThrVAR_019727rs59172778

Expression for genes affiliated with Bartter Syndrome, Type 2

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Bartter Syndrome, Type 2

Search GEO for disease gene expression data for Bartter Syndrome, Type 2.

Pathways for genes affiliated with Bartter Syndrome, Type 2

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Sources:
49PharmGKB, 51QIAGEN, 4Cell Signaling Technology
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Pathways related to Bartter Syndrome, Type 2 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3SLC12A1, KCNJ1
2
Hide members
9.3PTGS2, SLC12A1
39.1PTGS2, REN

Compounds for genes affiliated with Bartter Syndrome, Type 2

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Sources:
44Novoseek, 59Tocris Bioscience, 28IUPHAR, 11DrugBank, 49PharmGKB, 24HMDB
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Compounds related to Bartter Syndrome, Type 2 according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1bumetanide44 59 28 1112.6SLC12A1, PTGS2
2drospirenone44 49 28 1112.4REN, PTGS2
3desmopressin44 59 28 1112.3PTGS2, REN
4potassium chloride44 1110.3SLC12A1, REN
5thiazide449.3REN, SLC12A1
6txb2449.2REN, PTGS2
7furosemide44 49 59 28 11 2414.2REN, SLC12A1
8celecoxib44 59 28 49 11 2414.1REN, PTGS2
9prostaglandin449.1PTGS2, REN
10prostacyclin448.8PTGS2, REN
11nacl448.8SLC12A1, REN, KCNJ1
12chloride448.8KCNJ1, REN, SLC12A1
13potassium44 11 2410.7KCNJ1, REN, SLC12A1
14pge2448.7PTGS2, REN, SLC12A1
15sodium44 249.6KCNJ1, REN, SLC12A1
16nitric oxide44 11 2410.4PTGS2, SLC12A1, REN

GO Terms for genes affiliated with Bartter Syndrome, Type 2

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16Gene Ontology
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Biological processes related to Bartter Syndrome, Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1potassium ion transportGO:0068139.2SLC12A1, KCNJ1
2regulation of blood pressureGO:0082179.1PTGS2, REN
3response to lipopolysaccharideGO:0324969.1PTGS2, REN
4kidney developmentGO:0018228.8REN, KCNJ1

Products for genes affiliated with Bartter Syndrome, Type 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Bartter Syndrome, Type 2

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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