MCID: BRT034
MIFTS: 24

Bartter Syndrome, Type 2 malady

Genetic diseases, Rare diseases, Nephrological diseases, Ear diseases, Endocrine diseases, Fetal diseases categories

Summaries for Bartter Syndrome, Type 2

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MalaCards based summary: Bartter Syndrome, Type 2, also known as bartter syndrome antenatal type 2, is related to bartter syndrome, type 3, and has symptoms including autosomal recessive inheritance, polyuria and renal juxtaglomerular cell hypertrophy/hyperplasia. An important gene associated with Bartter Syndrome, Type 2 is KCNJ1 (potassium inwardly-rectifying channel, subfamily J, member 1). Affiliated tissues include eye.

Description from OMIM:45 241200

Aliases & Classifications for Bartter Syndrome, Type 2

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Bartter Syndrome, Type 2, Aliases & Descriptions:

Name: Bartter Syndrome, Type 2 45 10
Bartter Syndrome Antenatal Type 2 41 20 22
Hypokalemic Alkalosis with Hypercalciuria Antenatal 2 41
 
Bartter Syndrome, Antenatal , Type 2 60
Bartter Syndrome, Antenatal, Type 2 45
Hyperprostaglandin E Syndrome 2 41


Classifications:



External Ids:

OMIM45 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
1bartter syndrome, type 310.2

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

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 220 KCNJ1
2 Bartter Syndrome Antenatal Type 222

Anatomical Context for Bartter Syndrome, Type 2

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

31
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:

62 (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
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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Compounds 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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Products for genes affiliated with Bartter Syndrome, Type 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Bartter Syndrome, Type 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet