MCID: BRT034
MIFTS: 40

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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MalaCards based summary: Bartter Syndrome, Type 2, also known as renal tubular normotensive hypokalemic alkalosis with 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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Diuretics Pathway, Pharmacodynamics. The drugs captopril and enalapril and the compounds chlorine and nacl have been mentioned in the context of this disorder.

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

Aliases & Classifications for Bartter Syndrome, Type 2

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Sources:
48Orphanet, 46OMIM, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Bartter Syndrome, Type 2, Aliases & Descriptions:

Name: Bartter Syndrome, Type 2 46
Renal Tubular Normotensive Hypokalemic Alkalosis with Hypercalciuria 48
Salt-Losing Tubular Disorder, Henle's Loop Type 48
Salt-Wasting Tubulopathy, Henle's Loop Type 48
Bartter Syndrome, Furosemide-Amiloride Type 48
 
Bartter Syndrome, Furosemide Type 48
Hyperprostaglandin E Syndrome 48
Antenatal Bartter Syndrome 48
Bartters Syndrome 62
Bartter Syndrome 48


Classifications:

Orphanet: 48 
Rare renal diseases


Characteristics (Orphanet epidemiological data):

48
renal tubular normotensive hypokalemic alkalosis with hypercalciuria:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Variable; Age of death: Normal
bartter syndrome, furosemide-amiloride type:
Inheritance: Autosomal recessive; Age of onset: Neonatal/infancy


External Ids:

MESH via Orphanet35 D001477
ICD10 via Orphanet26 E26.8
UMLS via Orphanet63 C0004775

Related Diseases for Bartter Syndrome, Type 2

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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 40)
idRelated DiseaseScoreTop Affiliating Genes
1bartter disease30.4SLC12A1, CLCNKB, KCNJ1
2nephrocalcinosis30.1KCNJ1, CLCNKB, SLC12A1
3bartter syndrome type 329.9SLC12A1, KCNJ1, CLCNKB
4gitelman syndrome29.8CLCNKB, KCNJ1, SLC12A1
5polyhydramnios29.5SLC12A1, KCNJ1, CLCNKB
6hypokalemia29.5KCNJ1, CLCNKB, 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
25hypertension10.0
26pseudohypoaldosteronism10.0
27hypokalemic periodic paralysis10.0
28status epilepticus10.0
29kearns-sayre syndrome10.0
30inappropriate adh syndrome10.0
31conjunctivitis10.0
32hair disease10.0
33nonsyndromic deafness10.0
34hydrops fetalis10.0
35ring chromosome 810.0
36trisomy 3 mosaicism10.0
37hypomagnesemia 1, intestinal10.0
38primary hyperoxaluria10.0SLC12A1, KCNJ1
39sensorineural hearing loss9.8KCNJ1, SLC12A1
40hyperaldosteronism9.8CLCNKB, 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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Symptoms by clinical synopsis from OMIM:

241200

Clinical features from OMIM:

241200,601198,601678,602522,607364,613090

Symptoms:

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

HPO human phenotypes related to Bartter Syndrome, Type 2:

(show all 51)
id Description Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis hallmark (90%) HP:0001939
2 short stature hallmark (90%) HP:0004322
3 abnormal renal physiology hallmark (90%) HP:0012211
4 autosomal recessive inheritance HP:0000007
5 polyuria HP:0000103
6 renal juxtaglomerular cell hypertrophy/hyperplasia HP:0000111
7 nephrocalcinosis HP:0000121
8 renal salt wasting HP:0000127
9 renal potassium wasting HP:0000128
10 macrocephaly HP:0000256
11 triangular face HP:0000325
12 macrotia HP:0000400
13 hyperactive renin-angiotensin system HP:0000841
14 increased circulating renin level HP:0000848
15 hyperaldosteronism HP:0000859
16 chondrocalcinosis HP:0000934
17 osteopenia HP:0000938
18 large eyes HP:0001090
19 intellectual disability HP:0001249
20 seizures HP:0001250
21 global developmental delay HP:0001263
22 tetany HP:0001281
23 failure to thrive HP:0001508
24 small for gestational age HP:0001518
25 polyhydramnios HP:0001561
26 fetal polyuria HP:0001563
27 premature birth HP:0001622
28 dehydration HP:0001944
29 fever HP:0001945
30 polydipsia HP:0001959
31 hypokalemic metabolic alkalosis HP:0001960
32 frontal bossing HP:0002007
33 vomiting HP:0002013
34 diarrhea HP:0002014
35 constipation HP:0002019
36 hypercalciuria HP:0002150
37 low-to-normal blood pressure HP:0002632
38 hypokalemia HP:0002900
39 hyperchloridura HP:0002914
40 hypomagnesemia HP:0002917
41 increased urinary potassium HP:0003081
42 hypochloremia HP:0003113
43 hyposthenuria HP:0003158
44 generalized muscle weakness HP:0003324
45 muscle cramps HP:0003394
46 paresthesia HP:0003401
47 hyperprostaglandinuria HP:0003527
48 impaired platelet aggregation HP:0003540
49 increased serum prostaglandin e2 HP:0003566
50 short stature HP:0004322
51 prominent forehead HP:0011220

Drugs & Therapeutics for Bartter Syndrome, Type 2

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Drug clinical trials:

Search ClinicalTrials for Bartter Syndrome, Type 2

Search NIH Clinical Center for Bartter Syndrome, Type 2

Inferred drug relations via UMLS62/NDF-RT40:

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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Publications for Bartter Syndrome, Type 2

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Variations for Bartter Syndrome, Type 2

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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

Clinvar genetic disease variations for Bartter Syndrome, Type 2:

6 (show all 17)
id Gene Name Type Significance SNP ID Assembly Location
1CLCNKBNM_000085.4(CLCNKB): c.371C> T (p.Pro124Leu)single nucleotide variantPathogenicrs121909131GRCh37Chr 1, 16374412: 16374412
2CLCNKBNM_000085.4(CLCNKB): c.610G> A (p.Ala204Thr)single nucleotide variantPathogenicrs121909132GRCh37Chr 1, 16375032: 16375032
3CLCNKBNM_000085.4(CLCNKB): c.1312C> T (p.Arg438Cys)single nucleotide variantPathogenicrs121909133GRCh37Chr 1, 16378219: 16378219
4CLCNKBNM_000085.4(CLCNKB): c.1046C> A (p.Ala349Asp)single nucleotide variantPathogenicrs121909134GRCh37Chr 1, 16377088: 16377088
5CLCNKBNM_000085.4(CLCNKB): c.1294T> C (p.Tyr432His)single nucleotide variantPathogenicrs121909135GRCh37Chr 1, 16378039: 16378039
6CLCNKBCLCNKB, DELdeletionPathogenic
7CLCNKBCLCNKB, IVS7, A-G, -2single nucleotide variantPathogenic
8KCNJ1NM_153767.3(KCNJ1): c.180C> G (p.Tyr60Ter)single nucleotide variantPathogenicrs104894244GRCh37Chr 11, 128709959: 128709959
9KCNJ1KCNJ1, 1-BP INS, CODON 15insertionPathogenic
10KCNJ1NM_153767.3(KCNJ1): c.600C> G (p.Ser200Arg)single nucleotide variantPathogenicrs104894245GRCh37Chr 11, 128709539: 128709539
11KCNJ1KCNJ1, TRP58TERundetermined variantPathogenic
12KCNJ1NM_153767.3(KCNJ1): c.584C> T (p.Ala195Val)single nucleotide variantPathogenicrs104894246GRCh37Chr 11, 128709555: 128709555
13KCNJ1NM_153767.3(KCNJ1): c.1013T> C (p.Met338Thr)single nucleotide variantPathogenicrs59172778GRCh37Chr 11, 128709126: 128709126
14KCNJ1NM_153767.3(KCNJ1): c.535G> A (p.Ala179Thr)single nucleotide variantPathogenicrs104894253GRCh37Chr 11, 128709604: 128709604
15KCNJ1NM_153767.3(KCNJ1): c.443G> A (p.Gly148Glu)single nucleotide variantPathogenicrs104894254GRCh37Chr 11, 128709696: 128709696
16KCNJ1NM_153767.3(KCNJ1): c.265G> C (p.Asp89His)single nucleotide variantPathogenicrs104894250GRCh37Chr 11, 128709874: 128709874
17KCNJ1NM_153767.3(KCNJ1): c.315T> A (p.Asn105Lys)single nucleotide variantPathogenicrs104894251GRCh37Chr 11, 128709824: 128709824

Expression for genes affiliated with Bartter Syndrome, Type 2

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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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Compounds for genes affiliated with Bartter Syndrome, Type 2

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Sources:
44Novoseek, 24HMDB, 11DrugBank
See all sources

Compounds related to Bartter Syndrome, Type 2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1chlorine44 2410.1SLC12A1, CLCNKB
2nacl448.6SLC12A1, CLCNKB, KCNJ1
3chloride448.6SLC12A1, CLCNKB, KCNJ1
4potassium44 24 1110.5KCNJ1, CLCNKB, SLC12A1
5sodium44 249.4SLC12A1, CLCNKB, KCNJ1
6magnesium44 24 1110.2SLC12A1, CLCNKB, KCNJ1

GO Terms for genes affiliated with Bartter Syndrome, Type 2

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Cellular components related to Bartter Syndrome, Type 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1plasma membraneGO:0058868.5SLC12A1, CLCNKB, KCNJ1

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

idNameGO IDScoreTop Affiliating Genes
1potassium ion transportGO:0068139.3SLC12A1, KCNJ1
2transmembrane transportGO:0550859.1SLC12A1, CLCNKB
3excretionGO:0075889.1CLCNKB, KCNJ1
4ion transmembrane transportGO:0342209.0CLCNKB, SLC12A1
5transportGO:0068108.8SLC12A1, CLCNKB

Products for genes affiliated with Bartter Syndrome, Type 2

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet