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

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Aliases & Descriptions for Bartter Syndrome, Type 2:

Name: Bartter Syndrome, Type 2 52 12
Hypokalemic Alkalosis with Hypercalciuria Antenatal 2 48 70
Hyperprostaglandin E Syndrome 2 11 48
Hyperprostaglandin E Syndrome 24 50
Antenatal Bartter Syndrome 2 70 27
Bartter Syndrome Type 2 11 24
Bartter Disease Type 2 11 13
Barts2 11 70
Hypokalemic Alkalosis with Hypercalciuria 2 Antenatal 11
Antley-Bixler Syndrome, Autosomal Dominant 68
 
Bartter Syndrome, Antenatal , Type 2 68
Bartter Syndrome Type 2 Antenatal 11
Bartter Syndrome Antenatal Type 2 48
Antenatal Bartter Syndrome Type 2 24
Hyperprostanglandin E Syndrome 2 70
Bartter Syndrome 2, Antenatal 70
Bartter Syndrome 2 70
Abs2 70
Bs2 70

Characteristics:

HPO:

64
bartter syndrome, type 2:
Inheritance: autosomal recessive inheritance, heterogeneous

Classifications:



External Ids:

OMIM52 241200
Disease Ontology11 DOID:0110143
ICD1030 E26.8
MedGen37 C1855849
MeSH39 D001477

Summaries for Bartter Syndrome, Type 2

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UniProtKB/Swiss-Prot:70 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, constipation and diarrhea. An important gene associated with Bartter Syndrome, Type 2 is KCNJ1 (Potassium Voltage-Gated Channel Subfamily J Member 1), and among its related pathways are NO-dependent CFTR activation (normal and CF) and CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF). Affiliated tissues include eye, and related mouse phenotypes are integument and cardiovascular system.

Disease Ontology:11 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:52 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 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)
idRelated DiseaseScoreTop Affiliating Genes
1bartter syndrome, type 331.5KCNJ1, REN, SLC12A1
2antenatal bartter syndrome11.4
3bartter syndrome, type 111.3
4antley-bixler syndrome without genital anomalies or disordered steroidogenesis10.8
5biemond syndrome ii10.8
6impetigo10.2KCNJ1, SLC12A1
7deafness, nonsyndromic, modifier 110.2CASR, KCNJ1
8mixed receptive-expressive language disorder10.1KCNJ1, SLC12A1
9listeria meningitis10.1CASR, REN
10lyz-related familial visceral amyloidosis10.1SCNN1B, SCNN1G
11lztfl1- related bardet-biedl syndrome10.1SCNN1B, SCNN1G
12demyelinating polyneuropathy10.0PTGS2, SLC12A1
13bickerstaff brainstem encephalitis10.0SCNN1B, SCNN1G
14high-grade dysplasia in patients with barrett esophagus10.0CASR, REN
15fatty liver disease10.0REN, SLC12A1
16dystonia 2510.0NR3C2, REN
17prostate neuroendocrine neoplasm10.0NR3C2, REN
18hypoaldosteronism, congenital, due to cmo i deficiency10.0NR3C2, REN
19indian tick typhus10.0CASR, KCNJ1, REN
20cataract 21, multiple types10.0NR3C2, REN
21merkel cell carcinoma10.0NR3C2, REN
22esophagus squamous cell papilloma10.0NR3C2, REN
23panuveitis10.0NR3C2, REN
24familial nasal acilia10.0NR3C2, REN
25immune system organ benign neoplasm9.9NR3C2, REN
26clear cell adenocarcinoma9.9NR3C2, REN
27acute necrotizing encephalitis9.9PTGS2, REN
28dysphagia lusoria9.9KCNJ1, PTGS2, REN, SLC12A1
29retinitis pigmentosa9.9NR3C2, REN
30bipolar disorder9.9CASR, KCNJ1, REN, SLC12A1
31episodic kinesigenic dyskinesia 29.9CASR, KCNJ1, REN, SLC12A1
32hypertension, essential9.9NR3C2, REN, SLC12A1
33aorta angiosarcoma9.7KCNJ1, NR3C2, REN, SLC12A1
34microphthalmia, isolated, with coloboma 79.7KCNJ1, NR3C2, REN, SCNN1G
35malignant biphasic mesothelioma9.6KCNJ1, REN, SCNN1B, SCNN1G, SLC12A1
36pulmonary sarcoidosis9.6KCNJ1, NR3C2, SCNN1B, SCNN1G
37smith-mccort dysplasia 29.6NR3C2, REN, SCNN1B, SCNN1G
38lymphoproliferative syndrome 29.6NR3C2, REN, SCNN1B, SCNN1G
39bronchiectasis with or without elevated sweat chloride 39.6NR3C2, REN, SCNN1B, SCNN1G
40hyperaldosteronism, familial, type iii8.9CASR, 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

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Symptoms by clinical synopsis from OMIM:

241200

Clinical features from OMIM:

241200

Human phenotypes related to Bartter Syndrome, Type 2:

 64 (show all 47)
id Description HPO Frequency HPO Source Accession
1 polyuria64 HP:0000103
2 renal juxtaglomerular cell hypertrophy/hyperplasia64 HP:0000111
3 nephrocalcinosis64 HP:0000121
4 renal salt wasting64 HP:0000127
5 renal potassium wasting64 HP:0000128
6 macrocephaly64 HP:0000256
7 triangular face64 HP:0000325
8 macrotia64 HP:0000400
9 hyperactive renin-angiotensin system64 HP:0000841
10 increased circulating renin level64 HP:0000848
11 hyperaldosteronism64 HP:0000859
12 chondrocalcinosis64 HP:0000934
13 osteopenia64 HP:0000938
14 large eyes64 HP:0001090
15 intellectual disability64 HP:0001249
16 seizures64 HP:0001250
17 global developmental delay64 HP:0001263
18 tetany64 HP:0001281
19 failure to thrive64 HP:0001508
20 small for gestational age64 HP:0001518
21 polyhydramnios64 HP:0001561
22 fetal polyuria64 HP:0001563
23 premature birth64 HP:0001622
24 dehydration64 HP:0001944
25 fever64 HP:0001945
26 polydipsia64 HP:0001959
27 hypokalemic metabolic alkalosis64 HP:0001960
28 frontal bossing64 HP:0002007
29 vomiting64 HP:0002013
30 diarrhea64 HP:0002014
31 constipation64 HP:0002019
32 hypercalciuria64 HP:0002150
33 low-to-normal blood pressure64 HP:0002632
34 hypokalemia64 HP:0002900
35 hyperchloriduria64 HP:0002914
36 hypomagnesemia64 HP:0002917
37 increased urinary potassium64 HP:0003081
38 hypochloremia64 HP:0003113
39 hyposthenuria64 HP:0003158
40 generalized muscle weakness64 HP:0003324
41 muscle cramps64 HP:0003394
42 paresthesia64 HP:0003401
43 hyperprostaglandinuria64 HP:0003527
44 impaired platelet aggregation64 HP:0003540
45 increased serum prostaglandin e264 HP:0003566
46 short stature64 HP:0004322
47 prominent forehead64 HP:0011220

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 according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.4CASR, KCNJ1, PTGS2, SCNN1B, SCNN1G, SLC12A1
2MP:00053858.4KCNJ1, NR3C2, PTGS2, REN, SCNN1B, SLC12A1
3MP:00053978.4CASR, KCNJ1, NR3C2, PTGS2, REN, SLC12A1
4MP:00053867.8CASR, KCNJ1, NR3C2, PTGS2, REN, SCNN1G
5MP:00053787.2CASR, KCNJ1, NR3C2, PTGS2, REN, SCNN1B
6MP:00053767.2CASR, KCNJ1, NR3C2, PTGS2, REN, SCNN1B
7MP:00107687.1CASR, KCNJ1, NR3C2, PTGS2, REN, SCNN1B
8MP:00053676.4CASR, KCNJ1, NR3C2, PTGS2, REN, SCNN1B

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
1Hormones14415
2Calcium, Dietary5713

Interventional clinical trials:

idNameStatusNCT IDPhase
1Parathyroid Hormone (PTH) Homeostasis in Bartter SyndromeUnknown statusNCT01021280

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, Antenatal27
2 Bartter Syndrome Type 224 KCNJ1

Anatomical Context for Bartter Syndrome, Type 2

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

36
Eye

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:

70 (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.262A> T (p.Lys88Ter)SNVPathogenicrs185212943GRCh38Chr 11, 128839982: 128839982
2KCNJ1NM_ 153767.3(KCNJ1): c.180C> G (p.Tyr60Ter)SNVPathogenicrs104894244GRCh37Chr 11, 128709959: 128709959
3KCNJ1KCNJ1, 1-BP INS, CODON 15insertionPathogenic
4KCNJ1NM_ 153767.3(KCNJ1): c.600C> G (p.Ser200Arg)SNVPathogenicrs104894245GRCh37Chr 11, 128709539: 128709539
5KCNJ1KCNJ1, TRP58TERundetermined variantPathogenic
6KCNJ1NM_ 153767.3(KCNJ1): c.584C> T (p.Ala195Val)SNVPathogenicrs104894246GRCh37Chr 11, 128709555: 128709555
7KCNJ1NM_ 153767.3(KCNJ1): c.535G> A (p.Ala179Thr)SNVPathogenicrs104894253GRCh37Chr 11, 128709604: 128709604
8KCNJ1NM_ 153767.3(KCNJ1): c.443G> A (p.Gly148Glu)SNVPathogenicrs104894254GRCh37Chr 11, 128709696: 128709696
9KCNJ1NM_ 153767.3(KCNJ1): c.265G> C (p.Asp89His)SNVPathogenicrs104894250GRCh37Chr 11, 128709874: 128709874
10KCNJ1NM_ 153767.3(KCNJ1): c.315T> A (p.Asn105Lys)SNVPathogenicrs104894251GRCh37Chr 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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Cellular components related to Bartter Syndrome, Type 2 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1sodium channel complexGO:00347069.3SCNN1B, SCNN1G
2apical plasma membraneGO:00163249.2CASR, SCNN1B, SCNN1G, SLC12A1
3membraneGO:00160206.6CASR, KCNJ1, NR3C2, PTGS2, REN, SCNN1B

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1regulation of blood pressureGO:000821710.2PTGS2, REN
2positive regulation of vasoconstrictionGO:004590710.1CASR, PTGS2
3multicellular organismal water homeostasisGO:00508919.9SCNN1B, SCNN1G
4sensory perception of tasteGO:00509099.9SCNN1B, SCNN1G
5sodium ion homeostasisGO:00550789.9SCNN1B, SCNN1G
6excretionGO:00075889.7KCNJ1, SCNN1B, SCNN1G
7ion transmembrane transportGO:00342209.7SCNN1B, SCNN1G, SLC12A1
8ion transportGO:00068119.2KCNJ1, SCNN1B, SCNN1G, SLC12A1
9sodium ion transportGO:00068149.0SCNN1B, SCNN1G, SLC12A1

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

idNameGO IDScoreTop Affiliating Genes
1ligand-gated sodium channel activityGO:00152809.7SCNN1B, SCNN1G
2WW domain bindingGO:00506999.3SCNN1B, SCNN1G

Sources for Bartter Syndrome, Type 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet