MCID: BRT034
MIFTS: 41

Bartter Syndrome, Type 2 malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Ear diseases, Fetal diseases, Endocrine diseases

Aliases & Classifications for Bartter Syndrome, Type 2

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Aliases & Descriptions for Bartter Syndrome, Type 2:

Name: Bartter Syndrome, Type 2 51 12
Hypokalemic Alkalosis with Hypercalciuria Antenatal 2 47 69
Hyperprostaglandin E Syndrome 2 11 47
Hyperprostaglandin E Syndrome 24 49
Antenatal Bartter Syndrome 2 69 26
Barts2 11 69
Hypokalemic Alkalosis with Hypercalciuria 2 Antenatal 11
Antley-Bixler Syndrome, Autosomal Dominant 67
Bartter Syndrome, Antenatal , Type 2 67
Bartter Syndrome Antenatal Type 2 47
 
Antenatal Bartter Syndrome Type 2 24
Bartter Syndrome Type 2 Antenatal 11
Hyperprostanglandin E Syndrome 2 69
Bartter Syndrome 2, Antenatal 69
Bartter Syndrome Type 2 11
Bartter Disease Type 2 11
Bartter Syndrome 2 69
Abs2 69
Bs2 69

Characteristics:

HPO:

63
bartter syndrome, type 2:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 241200
Disease Ontology11 DOID:0110143
ICD1029 E26.8
MedGen36 C1855849
MeSH38 D001477

Summaries for Bartter Syndrome, Type 2

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UniProtKB/Swiss-Prot:69 Bartter syndrome 2, antenatal: A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS2 is a life- threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia.

MalaCards based summary: Bartter Syndrome, Type 2, also known as hypokalemic alkalosis with hypercalciuria antenatal 2, is related to antenatal bartter syndrome and bartter syndrome, type 1, and has symptoms including polyuria, renal juxtaglomerular cell hypertrophy/hyperplasia and nephrocalcinosis. An important gene associated with Bartter Syndrome, Type 2 is KCNJ1 (Potassium Voltage-Gated Channel Subfamily J Member 1), and among its related pathways are Diuretics Pathway, Pharmacodynamics and Angiogenesis (CST). Affiliated tissues include eye, and related mouse phenotypes are hematopoietic system and behavior/neurological.

Disease Ontology:11 A Bartter disease that has material basis in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24.

Description from OMIM:51 241200

Related Diseases for Bartter Syndrome, Type 2

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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

Human phenotypes related to Bartter Syndrome, Type 2:

 63 (show all 47)
id Description HPO Frequency HPO Source Accession
1 polyuria63 HP:0000103
2 renal juxtaglomerular cell hypertrophy/hyperplasia63 HP:0000111
3 nephrocalcinosis63 HP:0000121
4 renal salt wasting63 HP:0000127
5 renal potassium wasting63 HP:0000128
6 macrocephaly63 HP:0000256
7 triangular face63 HP:0000325
8 macrotia63 HP:0000400
9 hyperactive renin-angiotensin system63 HP:0000841
10 increased circulating renin level63 HP:0000848
11 hyperaldosteronism63 HP:0000859
12 chondrocalcinosis63 HP:0000934
13 osteopenia63 HP:0000938
14 large eyes63 HP:0001090
15 intellectual disability63 HP:0001249
16 seizures63 HP:0001250
17 global developmental delay63 HP:0001263
18 tetany63 HP:0001281
19 failure to thrive63 HP:0001508
20 small for gestational age63 HP:0001518
21 polyhydramnios63 HP:0001561
22 fetal polyuria63 HP:0001563
23 premature birth63 HP:0001622
24 dehydration63 HP:0001944
25 fever63 HP:0001945
26 polydipsia63 HP:0001959
27 hypokalemic metabolic alkalosis63 HP:0001960
28 frontal bossing63 HP:0002007
29 vomiting63 HP:0002013
30 diarrhea63 HP:0002014
31 constipation63 HP:0002019
32 hypercalciuria63 HP:0002150
33 low-to-normal blood pressure63 HP:0002632
34 hypokalemia63 HP:0002900
35 hyperchloriduria63 HP:0002914
36 hypomagnesemia63 HP:0002917
37 increased urinary potassium63 HP:0003081
38 hypochloremia63 HP:0003113
39 hyposthenuria63 HP:0003158
40 generalized muscle weakness63 HP:0003324
41 muscle cramps63 HP:0003394
42 paresthesia63 HP:0003401
43 hyperprostaglandinuria63 HP:0003527
44 impaired platelet aggregation63 HP:0003540
45 increased serum prostaglandin e263 HP:0003566
46 short stature63 HP:0004322
47 prominent forehead63 HP:0011220

UMLS symptoms related to Bartter Syndrome, Type 2:


constipation, diarrhea, muscle cramp, polyuria, seizures, vomiting, polydipsia, weakness

Drugs & Therapeutics for Bartter Syndrome, Type 2

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Drugs for Bartter Syndrome, Type 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Hormones13979
2Calcium, Dietary5525

Interventional clinical trials:

idNameStatusNCT IDPhase
1Parathyroid Hormone (PTH) Homeostasis in Bartter SyndromeUnknown statusNCT01021280

Search NIH Clinical Center for Bartter Syndrome, Type 2

Genetic Tests for Bartter Syndrome, Type 2

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Genetic tests related to Bartter Syndrome, Type 2:

id Genetic test Affiliating Genes
1 Bartter Syndrome, Type 2, Antenatal26
2 Antenatal Bartter Syndrome Type 224 KCNJ1

Anatomical Context for Bartter Syndrome, Type 2

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MalaCards organs/tissues related to Bartter Syndrome, Type 2:

35
Eye

Animal Models for Bartter Syndrome, Type 2 or affiliated genes

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MGI Mouse Phenotypes related to Bartter Syndrome, Type 2:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.3KCNJ1, PTGS2, REN, SLC12A1
2MP:00053868.3KCNJ1, PTGS2, REN, SLC12A1
3MP:00053788.3KCNJ1, PTGS2, REN, SLC12A1
4MP:00053768.2KCNJ1, PTGS2, REN, SLC12A1
5MP:00053858.2KCNJ1, PTGS2, REN, SLC12A1
6MP:00053678.2KCNJ1, PTGS2, REN, SLC12A1

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:

69 (show all 13)
id Symbol AA change Variation ID SNP ID
1KCNJ1p.Val72GluVAR_001548
2KCNJ1p.Asp74TyrVAR_001549
3KCNJ1p.Trp99CysVAR_001550
4KCNJ1p.Asp108HisVAR_001551rs104894250
5KCNJ1p.Pro110LeuVAR_001552rs373745258
6KCNJ1p.Val122GluVAR_001553
7KCNJ1p.Gly167GluVAR_001554rs104894254
8KCNJ1p.Ala198ThrVAR_001555rs104894253
9KCNJ1p.Val315GlyVAR_001556rs753949204
10KCNJ1p.Asn124LysVAR_019724rs104894251
11KCNJ1p.Ala214ValVAR_019725rs104894246
12KCNJ1p.Ser219ArgVAR_019726rs104894245
13KCNJ1p.Met357ThrVAR_019727rs59172778

Clinvar genetic disease variations for Bartter Syndrome, Type 2:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KCNJ1NM_153767.3(KCNJ1): c.180C> G (p.Tyr60Ter)SNVPathogenicrs104894244GRCh37Chr 11, 128709959: 128709959
2KCNJ1KCNJ1, 1-BP INS, CODON 15insertionPathogenicChr na, -1: -1
3KCNJ1NM_153767.3(KCNJ1): c.600C> G (p.Ser200Arg)SNVPathogenicrs104894245GRCh37Chr 11, 128709539: 128709539
4KCNJ1KCNJ1, TRP58TERundetermined variantPathogenicChr na, -1: -1
5KCNJ1NM_153767.3(KCNJ1): c.584C> T (p.Ala195Val)SNVPathogenicrs104894246GRCh38Chr 11, 128839660: 128839660
6KCNJ1NM_153767.3(KCNJ1): c.1013T> C (p.Met338Thr)SNVPathogenicrs59172778GRCh37Chr 11, 128709126: 128709126
7KCNJ1NM_153767.3(KCNJ1): c.535G> A (p.Ala179Thr)SNVPathogenicrs104894253GRCh37Chr 11, 128709604: 128709604
8KCNJ1NM_153767.3(KCNJ1): c.443G> A (p.Gly148Glu)SNVPathogenicrs104894254GRCh37Chr 11, 128709696: 128709696
9KCNJ1NM_153767.3(KCNJ1): c.265G> C (p.Asp89His)SNVPathogenicrs104894250GRCh37Chr 11, 128709874: 128709874
10KCNJ1NM_153767.3(KCNJ1): c.315T> A (p.Asn105Lys)SNVPathogenicrs104894251GRCh37Chr 11, 128709824: 128709824

Expression for genes affiliated with Bartter Syndrome, Type 2

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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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Pathways related to Bartter Syndrome, Type 2 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.3KCNJ1, SLC12A1
2
Show member pathways
9.1PTGS2, REN

GO Terms for genes affiliated with Bartter Syndrome, Type 2

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Biological processes related to Bartter Syndrome, Type 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1potassium ion transportGO:00068139.7KCNJ1, SLC12A1
2response to lipopolysaccharideGO:00324969.2PTGS2, REN
3regulation of blood pressureGO:00082179.1PTGS2, REN
4response to organic substanceGO:00100338.8PTGS2, REN

Sources for Bartter Syndrome, Type 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet