MCID: BRT034
MIFTS: 30

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 bartter syndrome, type 1, 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, 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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Diseases in the Bartter Disease family:

Bartter Syndrome, Type 3 Bartter Syndrome, Type 4a
bartter syndrome, type 2 Bartter Syndrome, Type 1
Bartter Syndrome Type 4

Diseases related to Bartter Syndrome, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)
idRelated DiseaseScoreTop Affiliating Genes
1bartter syndrome, type 329.9KCNJ1, REN, SLC12A1
2bartter syndrome, type 111.7
3antenatal bartter syndrome11.5
4antley-bixler syndrome without genital anomalies or disordered steroidogenesis11.4
5biemond syndrome 211.4
6rett syndrome10.2
7charcot-marie-tooth disease10.2
8tooth disease10.2
9hypothyroidism10.2
10candidiasis10.2
11ankylosis10.2
12vulvovaginal candidiasis10.2
13vulvovaginitis10.2
14granular cell tumor10.2
15spondylitis10.2
16thyroiditis10.2
17autoimmune thyroiditis10.2
18early-onset glaucoma10.2
19rheumatoid lung disease10.0KCNJ1, SLC12A1
20aortic disease9.9PTGS2, SLC12A1
21iga glomerulonephritis9.8PTGS2, REN
22pseudobulbar palsy9.8KCNJ1, SLC12A1
23malignant struma ovarii9.8PTGS2, REN
24organ system benign neoplasm9.8PTGS2, REN
25allergic asthma9.7REN, SLC12A1
26hypertension, essential9.6REN, SLC12A1
27mitochondrial metabolism disease9.6PTGS2, REN
28non-invasive bladder urothelial carcinoma9.5PTGS2, REN
29b-cell lymphomas9.5KCNJ1, REN, SLC12A1
30chromophobe adenocarcinoma9.5KCNJ1, REN, SLC12A1
31anisomastia9.5KCNJ1, REN, SLC12A1
32orofaciodigital syndrome9.5KCNJ1, REN, SLC12A1
33long qt syndrome 139.2KCNJ1, PTGS2, REN, SLC12A1
34laubry-pezzi syndrome9.2KCNJ1, PTGS2, REN, SLC12A1

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

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

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