BARTS2
MCID: BRT034
MIFTS: 46

Bartter Syndrome, Type 2 (BARTS2) malady

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

Aliases & Classifications for Bartter Syndrome, Type 2

Aliases & Descriptions for Bartter Syndrome, Type 2:

Name: Bartter Syndrome, Type 2 54 13
Hypokalemic Alkalosis with Hypercalciuria Antenatal 2 50 66
Hyperprostaglandin E Syndrome 2 12 50
Hyperprostaglandin E Syndrome 24 52
Antenatal Bartter Syndrome 2 66 29
Bartter Syndrome Type 2 12 24
Bartter Disease Type 2 12 14
Barts2 12 66
Hypokalemic Alkalosis with Hypercalciuria 2 Antenatal 12
Antley-Bixler Syndrome, Autosomal Dominant 69
Bartter Syndrome, Antenatal , Type 2 69
Bartter Syndrome Type 2 Antenatal 12
Bartter Syndrome Antenatal Type 2 50
Antenatal Bartter Syndrome Type 2 24
Hyperprostanglandin E Syndrome 2 66
Bartter Syndrome 2, Antenatal 66
Bartter Syndrome 2 66
Abs2 66
Bs2 66

Characteristics:

HPO:

32
bartter syndrome, type 2:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



External Ids:

OMIM 54 241200
Disease Ontology 12 DOID:0110143
ICD10 33 E26.8
MedGen 40 C1855849
MeSH 42 D001477

Summaries for Bartter Syndrome, Type 2

UniProtKB/Swiss-Prot : 66 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 bartter syndrome, type 3 and antenatal bartter syndrome, and has symptoms including constipation, fever and seizures. An important gene associated with Bartter Syndrome, Type 2 is KCNJ1 (Potassium Voltage-Gated Channel Subfamily J Member 1), and among its related pathways/superpathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Taste transduction. The drugs Calcium, Dietary and Hormones have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are behavior/neurological and growth/size/body region

Disease Ontology : 12 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: 241200

Related Diseases for Bartter Syndrome, Type 2

Diseases in the Bartter Disease family:

Bartter Syndrome, Type 3 Bartter Syndrome, Type 4a
Bartter Syndrome, Type 2 Bartter Syndrome, Type 1
Bartter Disease Type 5 Bartter Syndrome Type 4

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

(show all 40)
id Related Disease Score Top Affiliating Genes
1 bartter syndrome, type 3 31.5 KCNJ1 REN SLC12A1
2 antenatal bartter syndrome 11.4
3 bartter syndrome, type 1 11.3
4 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 10.8
5 biemond syndrome ii 10.8
6 impetigo 10.2 KCNJ1 SLC12A1
7 deafness, nonsyndromic, modifier 1 10.2 CASR KCNJ1
8 mixed receptive-expressive language disorder 10.1 KCNJ1 SLC12A1
9 listeria meningitis 10.1 CASR REN
10 lyz-related familial visceral amyloidosis 10.1 SCNN1B SCNN1G
11 lztfl1- related bardet-biedl syndrome 10.1 SCNN1B SCNN1G
12 demyelinating polyneuropathy 10.0 PTGS2 SLC12A1
13 bickerstaff brainstem encephalitis 10.0 SCNN1B SCNN1G
14 high-grade dysplasia in patients with barrett esophagus 10.0 CASR REN
15 fatty liver disease 10.0 REN SLC12A1
16 dystonia 25 10.0 NR3C2 REN
17 prostate neuroendocrine neoplasm 10.0 NR3C2 REN
18 hypoaldosteronism, congenital, due to cmo i deficiency 10.0 NR3C2 REN
19 indian tick typhus 10.0 CASR KCNJ1 REN
20 cataract 21, multiple types 10.0 NR3C2 REN
21 merkel cell carcinoma 10.0 NR3C2 REN
22 esophagus squamous cell papilloma 10.0 NR3C2 REN
23 panuveitis 10.0 NR3C2 REN
24 familial nasal acilia 10.0 NR3C2 REN
25 immune system organ benign neoplasm 9.9 NR3C2 REN
26 clear cell adenocarcinoma 9.9 NR3C2 REN
27 acute necrotizing encephalitis 9.9 PTGS2 REN
28 dysphagia lusoria 9.9 KCNJ1 PTGS2 REN SLC12A1
29 retinitis pigmentosa 9.9 NR3C2 REN
30 bipolar disorder 9.9 CASR KCNJ1 REN SLC12A1
31 episodic kinesigenic dyskinesia 2 9.9 CASR KCNJ1 REN SLC12A1
32 hypertension, essential 9.9 NR3C2 REN SLC12A1
33 aorta angiosarcoma 9.7 KCNJ1 NR3C2 REN SLC12A1
34 microphthalmia, isolated, with coloboma 7 9.7 KCNJ1 NR3C2 REN SCNN1G
35 malignant biphasic mesothelioma 9.6 KCNJ1 REN SCNN1B SCNN1G SLC12A1
36 pulmonary sarcoidosis 9.6 KCNJ1 NR3C2 SCNN1B SCNN1G
37 smith-mccort dysplasia 2 9.6 NR3C2 REN SCNN1B SCNN1G
38 lymphoproliferative syndrome 2 9.6 NR3C2 REN SCNN1B SCNN1G
39 bronchiectasis with or without elevated sweat chloride 3 9.6 NR3C2 REN SCNN1B SCNN1G
40 hyperaldosteronism, familial, type iii 8.9 CASR KCNJ1 NR3C2 PTGS2 REN SCNN1B

Graphical network of the top 20 diseases related to Bartter Syndrome, Type 2:



Diseases related to Bartter Syndrome, Type 2

Symptoms & Phenotypes for Bartter Syndrome, Type 2

Symptoms by clinical synopsis from OMIM:

241200

Clinical features from OMIM:

241200

Human phenotypes related to Bartter Syndrome, Type 2:

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

UMLS symptoms related to Bartter Syndrome, Type 2:


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

MGI Mouse Phenotypes related to Bartter Syndrome, Type 2:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.98 CASR KCNJ1 NR3C2 PTGS2 REN SCNN1G
2 growth/size/body region MP:0005378 9.97 CASR KCNJ1 NR3C2 PTGS2 REN SCNN1B
3 cardiovascular system MP:0005385 9.88 KCNJ1 NR3C2 PTGS2 REN SCNN1B SLC12A1
4 homeostasis/metabolism MP:0005376 9.86 CASR KCNJ1 NR3C2 PTGS2 REN SCNN1B
5 hematopoietic system MP:0005397 9.8 SLC12A1 NR3C2 PTGS2 REN CASR KCNJ1
6 integument MP:0010771 9.63 CASR KCNJ1 PTGS2 SCNN1B SCNN1G SLC12A1
7 mortality/aging MP:0010768 9.56 CASR KCNJ1 NR3C2 PTGS2 REN SCNN1B
8 renal/urinary system MP:0005367 9.23 CASR KCNJ1 NR3C2 PTGS2 REN SCNN1B

Drugs & Therapeutics for Bartter Syndrome, Type 2

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Calcium, Dietary
2 Hormones

Interventional clinical trials:


id Name Status NCT ID Phase
1 Parathyroid Hormone (PTH) Homeostasis in Bartter Syndrome Unknown status NCT01021280

Search NIH Clinical Center for Bartter Syndrome, Type 2

Genetic Tests for Bartter Syndrome, Type 2

Genetic tests related to Bartter Syndrome, Type 2:

id Genetic test Affiliating Genes
1 Bartter Syndrome, Type 2, Antenatal 29
2 Bartter Syndrome Type 2 24 KCNJ1

Anatomical Context for Bartter Syndrome, Type 2

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

39
Eye

Publications for Bartter Syndrome, Type 2

Variations for Bartter Syndrome, Type 2

UniProtKB/Swiss-Prot genetic disease variations for Bartter Syndrome, Type 2:

66 (show all 13)
id Symbol AA change Variation ID SNP ID
1 KCNJ1 p.Val72Glu VAR_001548
2 KCNJ1 p.Asp74Tyr VAR_001549
3 KCNJ1 p.Trp99Cys VAR_001550
4 KCNJ1 p.Asp108His VAR_001551 rs104894250
5 KCNJ1 p.Pro110Leu VAR_001552 rs373745258
6 KCNJ1 p.Val122Glu VAR_001553
7 KCNJ1 p.Gly167Glu VAR_001554 rs104894254
8 KCNJ1 p.Ala198Thr VAR_001555 rs104894253
9 KCNJ1 p.Val315Gly VAR_001556 rs753949204
10 KCNJ1 p.Asn124Lys VAR_019724 rs104894251
11 KCNJ1 p.Ala214Val VAR_019725 rs104894246
12 KCNJ1 p.Ser219Arg VAR_019726 rs104894245
13 KCNJ1 p.Met357Thr VAR_019727 rs59172778

ClinVar genetic disease variations for Bartter Syndrome, Type 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ1 NM_153767.3(KCNJ1): c.535G> A (p.Ala179Thr) single nucleotide variant Pathogenic rs104894253 GRCh37 Chromosome 11, 128709604: 128709604
2 KCNJ1 NM_153767.3(KCNJ1): c.180C> G (p.Tyr60Ter) single nucleotide variant Pathogenic rs104894244 GRCh37 Chromosome 11, 128709959: 128709959
3 KCNJ1 KCNJ1, 1-BP INS, CODON 15 insertion Pathogenic
4 KCNJ1 NM_153767.3(KCNJ1): c.600C> G (p.Ser200Arg) single nucleotide variant Pathogenic rs104894245 GRCh37 Chromosome 11, 128709539: 128709539
5 KCNJ1 KCNJ1, TRP58TER undetermined variant Pathogenic
6 KCNJ1 NM_153767.3(KCNJ1): c.584C> T (p.Ala195Val) single nucleotide variant Pathogenic rs104894246 GRCh37 Chromosome 11, 128709555: 128709555
7 KCNJ1 NM_153767.3(KCNJ1): c.443G> A (p.Gly148Glu) single nucleotide variant Pathogenic rs104894254 GRCh37 Chromosome 11, 128709696: 128709696
8 KCNJ1 NM_153767.3(KCNJ1): c.265G> C (p.Asp89His) single nucleotide variant Pathogenic rs104894250 GRCh37 Chromosome 11, 128709874: 128709874
9 KCNJ1 NM_153767.3(KCNJ1): c.315T> A (p.Asn105Lys) single nucleotide variant Pathogenic rs104894251 GRCh37 Chromosome 11, 128709824: 128709824
10 KCNJ1 NM_153767.3(KCNJ1): c.262A> T (p.Lys88Ter) single nucleotide variant Pathogenic rs185212943 GRCh38 Chromosome 11, 128839982: 128839982

Expression for Bartter Syndrome, Type 2

Search GEO for disease gene expression data for Bartter Syndrome, Type 2.

Pathways for Bartter Syndrome, Type 2

GO Terms for Bartter Syndrome, Type 2

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

id Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.76 CASR KCNJ1 NR3C2 PTGS2 REN SCNN1B
2 sodium channel complex GO:0034706 8.96 SCNN1B SCNN1G
3 apical plasma membrane GO:0016324 8.92 CASR SCNN1B SCNN1G SLC12A1

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

id Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.62 KCNJ1 SCNN1B SCNN1G SLC12A1
2 ion transmembrane transport GO:0034220 9.58 SCNN1B SCNN1G SLC12A1
3 regulation of blood pressure GO:0008217 9.46 PTGS2 REN
4 sensory perception of taste GO:0050909 9.43 SCNN1B SCNN1G
5 sodium ion transport GO:0006814 9.43 SCNN1B SCNN1G SLC12A1
6 positive regulation of vasoconstriction GO:0045907 9.37 CASR PTGS2
7 sodium ion homeostasis GO:0055078 9.16 SCNN1B SCNN1G
8 multicellular organismal water homeostasis GO:0050891 8.96 SCNN1B SCNN1G
9 excretion GO:0007588 8.8 KCNJ1 SCNN1B SCNN1G

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

id Name GO ID Score Top Affiliating Genes
1 WW domain binding GO:0050699 8.96 SCNN1B SCNN1G
2 ligand-gated sodium channel activity GO:0015280 8.62 SCNN1B SCNN1G

Sources for Bartter Syndrome, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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