MCID: BRT034
MIFTS: 28

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 50 12
Hypokalemic Alkalosis with Hypercalciuria Antenatal 2 46 68
Hyperprostaglandin E Syndrome 23 48
Antenatal Bartter Syndrome 2 68 25
Bartter Syndrome, Antenatal , Type 2 66
Bartter Syndrome Antenatal Type 2 46
 
Antenatal Bartter Syndrome Type 2 23
Hyperprostanglandin E Syndrome 2 68
Hyperprostaglandin E Syndrome 2 46
Bartter Syndrome 2 68
Abs2 68
Bs2 68

Characteristics:

HPO:

62
bartter syndrome, type 2:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 241200
MedGen35 C1855849
MeSH37 D001477

Summaries for Bartter Syndrome, Type 2

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UniProtKB/Swiss-Prot:68 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 antenatal bartter syndrome and bartter syndrome, type 1, and has symptoms including constipation, constipation and diarrhea. An important gene associated with Bartter Syndrome, Type 2 is KCNJ1 (Potassium Voltage-Gated Channel Subfamily J Member 1). Affiliated tissues include eye.

Description from OMIM:50 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:

idRelated DiseaseScoreTop Affiliating Genes
1antenatal bartter syndrome11.5
2bartter syndrome, type 111.3
3antley-bixler syndrome without genital anomalies or disordered steroidogenesis11.0
4biemond syndrome ii11.0
5bartter syndrome, type 310.0

Graphical network of 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 polyuria HP:0000103
2 renal juxtaglomerular cell hypertrophy/hyperplasia HP:0000111
3 nephrocalcinosis HP:0000121
4 renal salt wasting HP:0000127
5 renal potassium wasting HP:0000128
6 macrocephaly HP:0000256
7 triangular face HP:0000325
8 macrotia HP:0000400
9 hyperactive renin-angiotensin system HP:0000841
10 increased circulating renin level HP:0000848
11 hyperaldosteronism HP:0000859
12 chondrocalcinosis HP:0000934
13 osteopenia HP:0000938
14 large eyes HP:0001090
15 intellectual disability HP:0001249
16 seizures HP:0001250
17 global developmental delay HP:0001263
18 tetany HP:0001281
19 failure to thrive HP:0001508
20 small for gestational age HP:0001518
21 polyhydramnios HP:0001561
22 fetal polyuria HP:0001563
23 premature birth HP:0001622
24 dehydration HP:0001944
25 fever HP:0001945
26 polydipsia HP:0001959
27 hypokalemic metabolic alkalosis HP:0001960
28 frontal bossing HP:0002007
29 vomiting HP:0002013
30 diarrhea HP:0002014
31 constipation HP:0002019
32 hypercalciuria HP:0002150
33 low-to-normal blood pressure HP:0002632
34 hypokalemia HP:0002900
35 hyperchloriduria HP:0002914
36 hypomagnesemia HP:0002917
37 increased urinary potassium HP:0003081
38 hypochloremia HP:0003113
39 hyposthenuria HP:0003158
40 generalized muscle weakness HP:0003324
41 muscle cramps HP:0003394
42 paresthesia HP:0003401
43 hyperprostaglandinuria HP:0003527
44 impaired platelet aggregation HP:0003540
45 increased serum prostaglandin e2 HP:0003566
46 short stature HP:0004322
47 prominent forehead 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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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 Bartter Syndrome, Type 2, Antenatal25
2 Antenatal Bartter Syndrome Type 223 KCNJ1

Anatomical Context for Bartter Syndrome, Type 2

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

34
Eye

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:

68 (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)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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GO Terms for genes affiliated with Bartter Syndrome, Type 2

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Sources for Bartter Syndrome, Type 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet