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 49 11
Hypokalemic Alkalosis with Hypercalciuria Antenatal 2 45 67
Hyperprostaglandin E Syndrome 22 47
Antenatal Bartter Syndrome 2 67 24
Antley-Bixler Syndrome, Autosomal Dominant 65
Bartter Syndrome, Antenatal , Type 2 65
Antenatal Bartter Syndrome Type 2 22
 
Bartter Syndrome Antenatal Type 2 45
Hyperprostanglandin E Syndrome 2 67
Hyperprostaglandin E Syndrome 2 45
Bartter Syndrome 2 67
Abs2 67
Bs2 67

Characteristics:

HPO:

61
bartter syndrome, type 2:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 241200
MedGen34 C1855849
MeSH36 D001477
UMLS65 C1855849

Summaries for Bartter Syndrome, Type 2

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UniProtKB/Swiss-Prot:67 Bartter syndrome 2: 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. Bartter syndrome type 2 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 bartter syndrome, type 3 and antenatal bartter syndrome, and has symptoms including prominent forehead, short stature and increased serum prostaglandin e2. An important gene associated with Bartter Syndrome, Type 2 is KCNJ1 (Potassium Voltage-Gated Channel Subfamily J Member 1), and among its related pathways is Diuretics Pathway, Pharmacodynamics. Affiliated tissues include eye, thyroid and lung, and related mouse phenotypes are behavior/neurological and renal/urinary system.

Description from OMIM:49 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

HPO human phenotypes related to Bartter Syndrome, Type 2:

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

UMLS symptoms related to Bartter Syndrome, Type 2:


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

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
1Hormones11748
2Calcium, Dietary4678

Interventional clinical trials:

idNameStatusNCT IDPhase
1Parathyroid Hormone (PTH) Homeostasis in Bartter SyndromeNot yet recruitingNCT01021280

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 Antenatal Bartter Syndrome Type 222 KCNJ1

Anatomical Context for Bartter Syndrome, Type 2

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

33
Eye, Thyroid, Lung, B cells

Animal Models for Bartter Syndrome, Type 2 or affiliated genes

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MGI Mouse Phenotypes related to Bartter Syndrome, Type 2:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.4KCNJ1, PTGS2, REN, SLC12A1
2MP:00053678.4KCNJ1, PTGS2, REN, SLC12A1
3MP:00053768.3KCNJ1, PTGS2, REN, SLC12A1
4MP:00053788.3KCNJ1, PTGS2, REN, SLC12A1
5MP:00053858.2KCNJ1, PTGS2, REN, SLC12A1
6MP:00053978.1KCNJ1, 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:

67 (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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KCNJ1NM_153767.3(KCNJ1): c.180C> G (p.Tyr60Ter)single nucleotide variantPathogenicrs104894244GRCh37Chr 11, 128709959: 128709959
2KCNJ1KCNJ1, 1-BP INS, CODON 15insertionPathogenic
3KCNJ1NM_153767.3(KCNJ1): c.600C> G (p.Ser200Arg)single nucleotide variantPathogenicrs104894245GRCh37Chr 11, 128709539: 128709539
4KCNJ1KCNJ1, TRP58TERundetermined variantPathogenic
5KCNJ1NM_153767.3(KCNJ1): c.584C> T (p.Ala195Val)single nucleotide variantPathogenicrs104894246GRCh37Chr 11, 128709555: 128709555
6KCNJ1NM_153767.3(KCNJ1): c.1013T> C (p.Met338Thr)single nucleotide variantPathogenicrs59172778GRCh37Chr 11, 128709126: 128709126
7KCNJ1NM_153767.3(KCNJ1): c.535G> A (p.Ala179Thr)single nucleotide variantPathogenicrs104894253GRCh37Chr 11, 128709604: 128709604
8KCNJ1NM_153767.3(KCNJ1): c.443G> A (p.Gly148Glu)single nucleotide variantPathogenicrs104894254GRCh37Chr 11, 128709696: 128709696
9KCNJ1NM_153767.3(KCNJ1): c.265G> C (p.Asp89His)single nucleotide variantPathogenicrs104894250GRCh37Chr 11, 128709874: 128709874
10KCNJ1NM_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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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

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:00068139.8KCNJ1, SLC12A1
2response to drugGO:00424939.3PTGS2, REN
3response to organic substanceGO:00100339.1PTGS2, REN
4response to lipopolysaccharideGO:00324968.8PTGS2, REN

Sources for Bartter Syndrome, Type 2

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet