MCID: BRT034
MIFTS: 34

Bartter Syndrome, Type 2 malady

Genetic diseases, Nephrological diseases, Rare diseases, Endocrine diseases, Ear diseases, Fetal diseases categories
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Summaries for Bartter Syndrome, Type 2

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47OMIM, 33MalaCards
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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:47 241200, 601678, 602522, 607364, 613090 601198 more

Aliases & Classifications for Bartter Syndrome, Type 2

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47OMIM, 49Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

Orphanet: 49 
Rare renal diseases


Characteristics (Orphanet epidemiological data):

49
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 47
hypokalemic alkalosis - hypercalciuria 49
hyperprostaglandin e syndrome 49
antenatal bartter syndrome 49
bartter syndrome 49


External Ids:

MESH via Orphanet36 D001477
ICD10 via Orphanet26 E26.8
SNOMED-CT via Orphanet59 71275003
UMLS via Orphanet63 C0004775

Related Diseases for Bartter Syndrome, Type 2

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17GeneCards, 18GeneDecks
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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:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

241200

Clinical features from OMIM:

241200,601678,602522,607364,613090,601198

Symptoms:

49
  • 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:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Bartter Syndrome, Type 2

Search NIH Clinical Center 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:
37MGI
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MGI Mouse Phenotypes related to Bartter Syndrome, Type 2:

37
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:
64UniProtKB/Swiss-Prot, 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Bartter Syndrome, Type 2:

64 (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, 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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50PathCards, 51PharmGKB
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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:
45Novoseek, 24HMDB, 11DrugBank
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Compounds related to Bartter Syndrome, Type 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nacl459.2SLC12A1, KCNJ1
2chloride459.1SLC12A1, KCNJ1
3magnesium45 24 1111.1SLC12A1, KCNJ1
4potassium45 24 1111.0KCNJ1, SLC12A1
5sodium45 249.8SLC12A1, KCNJ1

GO Terms for genes affiliated with Bartter Syndrome, Type 2

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Sources:
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:0068139.1SLC12A1, 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
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet