MCID: BRT034
MIFTS: 34

Bartter Syndrome, Type 2 malady

Genetic diseases, Nephrological diseases, Rare diseases, Endocrine diseases, Ear diseases, Fetal diseases categories

Summaries for Bartter Syndrome, Type 2

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48OMIM, 34MalaCards
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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 is Diuretics Pathway, Pharmacodynamics. The compounds nacl and chloride have been mentioned in the context of this disorder. Related mouse phenotypes are integument and renal/urinary system.

Description from OMIM:48 241200, 601678, 602522, 607364, 613090 601198 more

Aliases & Classifications for Bartter Syndrome, Type 2

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48OMIM, 50Orphanet, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Orphanet: 50 
Rare renal diseases


Characteristics (Orphanet epidemiological data):

50
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 48
hypokalemic alkalosis - hypercalciuria 50
hyperprostaglandin e syndrome 50
antenatal bartter syndrome 50
bartter syndrome 50


External Ids:

MESH via Orphanet37 D001477
ICD10 via Orphanet27 E26.8
SNOMED-CT via Orphanet60 71275003
UMLS via Orphanet64 C0004775

Related Diseases for Bartter Syndrome, Type 2

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

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1bartter disease30.8SLC12A1, KCNJ1
2nephrocalcinosis30.5SLC12A1, KCNJ1
3bartter syndrome type 330.3SLC12A1, KCNJ1
4gitelman syndrome30.2SLC12A1, KCNJ1
5polyhydramnios30.0KCNJ1, SLC12A1
6hypokalemia30.0KCNJ1, SLC12A1
7cystinosis10.4
8bartter syndrome antenatal type 110.4
9bartter syndrome type 4a10.4
10bartter syndrome antenatal type 210.4
11bartter syndrome type 410.4
12congenital chloride diarrhea10.3
13diarrhea10.3
14growth hormone deficiency10.3
15hypocalcemia, autosomal dominant10.3
16bartter syndrome type 4b10.3
17bartter syndrome, type 110.3
18focal segmental glomerulosclerosis10.2
19nephrolithiasis10.2
20cholelithiasis10.2
21glomerulosclerosis10.2
22syndrome of inappropriate antidiuretic hormone10.2
23bartter syndrome, type 4b, digenic10.2
24hypocalcemia, autosomal dominant, with bartter syndrome10.2
25status epilepticus10.0
26kearns-sayre syndrome10.0
27pseudohypoaldosteronism10.0
28inappropriate adh syndrome10.0
29hypokalemic periodic paralysis10.0
30conjunctivitis10.0
31hair disease10.0
32hypertension10.0
33nonsyndromic deafness10.0
34hydrops fetalis10.0
35ring chromosome 810.0
36trisomy 3 mosaicism10.0
37hypomagnesemia 1, intestinal10.0
38primary hyperoxaluria10.0SLC12A1, KCNJ1
39sensorineural hearing loss9.9SLC12A1, KCNJ1

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



Diseases related to bartter syndrome, type 2

Symptoms for Bartter Syndrome, Type 2

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Sources:
48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

241200

Clinical features from OMIM:

241200,601678,602522,607364,613090,601198

Symptoms:

50
  • 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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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Sources:
38MGI
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MGI Mouse Phenotypes related to Bartter Syndrome, Type 2:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107719.1SLC12A1, KCNJ1
2MP:00053678.8SLC12A1, KCNJ1

Publications for Bartter Syndrome, Type 2

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Variations for Bartter Syndrome, Type 2

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Sources:
65UniProtKB/Swiss-Prot, 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Bartter Syndrome, Type 2:

65 (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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2BioGPS, 16Gene 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:
51PathCards, 52PharmGKB
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Pathways related to Bartter Syndrome, Type 2 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1SLC12A1, KCNJ1

Compounds for genes affiliated with Bartter Syndrome, Type 2

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Sources:
46Novoseek, 25HMDB, 12DrugBank
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Compounds related to Bartter Syndrome, Type 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nacl469.2SLC12A1, KCNJ1
2chloride469.1SLC12A1, KCNJ1
3magnesium46 25 1211.1SLC12A1, KCNJ1
4potassium46 25 1211.0KCNJ1, SLC12A1
5sodium46 259.8SLC12A1, KCNJ1

GO Terms for genes affiliated with Bartter Syndrome, Type 2

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17Gene Ontology
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Biological processes related to Bartter Syndrome, Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1potassium ion transportGO:0068139.1SLC12A1, 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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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