MCID: ANT061
MIFTS: 37

Antenatal Bartter Syndrome

Categories: Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Antenatal Bartter Syndrome

MalaCards integrated aliases for Antenatal Bartter Syndrome:

Name: Antenatal Bartter Syndrome 59 29 6
Hyperprostaglandin E Syndrome 59 55
Bartter Syndrome, Furosemide-Amiloride Type 59
Bartter Syndrome, Furosemide Type 59

Characteristics:

Orphanet epidemiological data:

59
antenatal bartter syndrome
Inheritance: Autosomal recessive,X-linked recessive; Age of onset: Antenatal,Infancy,Neonatal;

Classifications:

Orphanet: 59  
Rare renal diseases


External Ids:

Orphanet 59 ORPHA93604
ICD10 via Orphanet 34 E26.8

Summaries for Antenatal Bartter Syndrome

MalaCards based summary : Antenatal Bartter Syndrome, also known as hyperprostaglandin e syndrome, is related to bartter syndrome, type 1, antenatal and bartter disease. An important gene associated with Antenatal Bartter Syndrome is KCNJ1 (Potassium Voltage-Gated Channel Subfamily J Member 1), and among its related pathways/superpathways are DAG and IP3 signaling and Human cytomegalovirus infection. Affiliated tissues include kidney, and related phenotypes are behavior/neurological and cardiovascular system

Related Diseases for Antenatal Bartter Syndrome

Graphical network of the top 20 diseases related to Antenatal Bartter Syndrome:



Diseases related to Antenatal Bartter Syndrome

Symptoms & Phenotypes for Antenatal Bartter Syndrome

MGI Mouse Phenotypes related to Antenatal Bartter Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 BSND GNAS KCNJ1 PTGER1 PTGER3 PTGER4
2 cardiovascular system MP:0005385 10.07 BSND GNAS KCNJ1 PTGER1 PTGER3 PTGER4
3 hematopoietic system MP:0005397 9.97 BSND GNAS KCNJ1 PTGER1 PTGER4 PTGS1
4 homeostasis/metabolism MP:0005376 9.96 BSND GNAS KCNJ1 PTGER1 PTGER3 PTGER4
5 integument MP:0010771 9.76 GNAS KCNJ1 PTGER1 PTGER3 PTGER4 PTGS1
6 mortality/aging MP:0010768 9.7 BSND GNAS KCNJ1 NAP1L1 PTGER1 PTGER3
7 renal/urinary system MP:0005367 9.28 BSND GNAS KCNJ1 PTGER1 PTGER3 PTGS1

Drugs & Therapeutics for Antenatal Bartter Syndrome

Search Clinical Trials , NIH Clinical Center for Antenatal Bartter Syndrome

Genetic Tests for Antenatal Bartter Syndrome

Genetic tests related to Antenatal Bartter Syndrome:

# Genetic test Affiliating Genes
1 Antenatal Bartter Syndrome 29

Anatomical Context for Antenatal Bartter Syndrome

MalaCards organs/tissues related to Antenatal Bartter Syndrome:

41
Kidney

Publications for Antenatal Bartter Syndrome

Articles related to Antenatal Bartter Syndrome:

(show all 42)
# Title Authors Year
1
Prevalence of Novel<i>MAGED2</i>Mutations in Antenatal Bartter Syndrome. ( 29146702 )
2018
2
Antenatal Bartter syndrome presenting with vomiting and constipation mimicking subacute intestinal obstruction in a 20-day-old neonate. ( 29141924 )
2017
3
A novel variant in the SLC12A1 gene in two families with antenatal Bartter syndrome. ( 27748541 )
2017
4
Cisplatin Therapy Does Not Worsen Renal Function in Severe Antenatal Bartter Syndrome. ( 28612006 )
2017
5
Diagnosis of antenatal Bartter syndrome. ( 27328514 )
2016
6
Fetal urine biochemistry in antenatal Bartter syndrome: a case report. ( 27648267 )
2016
7
Renal physiology: MAGED2 mutations in transient antenatal Bartter syndrome. ( 27181088 )
2016
8
Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review. ( 25741940 )
2015
9
Antenatal Bartter syndrome resembling nephrogenic diabetes insipidus in a 5-year-old boy. ( 25935500 )
2015
10
Severe early onset hydramnios in a singleton pregnancy due to antenatal Bartter syndrome. ( 24483758 )
2014
11
Antenatal Bartter syndrome. ( 24906263 )
2014
12
Expanding the spectrum of genetic mutations in antenatal Bartter syndrome type II. ( 23782368 )
2013
13
Hypothesis: SLC12A3 Polymorphism modifies thiazide hypersensitivity of antenatal Bartter syndrome to thiazide resistance. ( 22245519 )
2012
14
Antenatal bartter syndrome: a review. ( 22518185 )
2012
15
Antenatal Bartter syndrome: a rare cause of unexplained severe polyhydramnios. ( 21575321 )
2011
16
Recurrent urinary tract infections in an infant with antenatal Bartter syndrome. ( 20127218 )
2011
17
A case of antenatal Bartter syndrome with sensorineural deafness. ( 21158220 )
2010
18
Antenatal Bartter syndrome: analysis of two cases with placental findings. ( 20450264 )
2010
19
Deletion of exons 2-4 in the BSND gene causes severe antenatal Bartter syndrome. ( 18843510 )
2009
20
Hyperprostaglandin E syndrome: use of indomethacin and steroid, and death due to necrotizing enterocolitis and sepsis. ( 19014056 )
2008
21
Barttin mutations in antenatal Bartter syndrome with sensorineural deafness. ( 16773427 )
2006
22
Late-onset manifestation of antenatal Bartter syndrome as a result of residual function of the mutated renal Na+-K+-2Cl- co-transporter. ( 16807401 )
2006
23
Dominant role of prostaglandin E2 EP4 receptor in furosemide-induced salt-losing tubulopathy: a model for hyperprostaglandin E syndrome/antenatal Bartter syndrome. ( 15976003 )
2005
24
Heterozygous mutations of the gene for Kir 1.1 (ROMK) in antenatal Bartter syndrome presenting with transient hyperkalemia, evolving to a benign course. ( 12589089 )
2003
25
Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome. ( 12911542 )
2003
26
Successful management of an extreme example of neonatal hyperprostaglandin-E syndrome (Bartter's syndrome) with the new cyclooxygenase-2 inhibitor rofecoxib. ( 12749662 )
2003
27
Role of cyclooxygenase-2 in hyperprostaglandin E syndrome/antenatal Bartter syndrome. ( 12081585 )
2002
28
How can one apply rescue indomethacin therapy to a 1-month-old baby with antenatal Bartter syndrome in the case of severe vomiting? ( 11420924 )
2001
29
Pathogenetic role of cyclooxygenase-2 in hyperprostaglandin E syndrome/antenatal Bartter syndrome: therapeutic use of the cyclooxygenase-2 inhibitor nimesulide. ( 11673754 )
2001
30
Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31. ( 10862633 )
2000
31
pH gating of ROMK (K(ir)1.1) channels: control by an Arg-Lys-Arg triad disrupted in antenatal Bartter syndrome. ( 10611379 )
1999
32
Large deletion of the 5' end of the ROMK1 gene causes antenatal Bartter syndrome. ( 9848791 )
1998
33
Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome. ( 9585600 )
1998
34
Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K+ channel function. ( 9015377 )
1997
35
The hyperprostaglandin E syndrome: a hypercalciuric variant of Bartter's syndrome. ( 9333138 )
1997
36
Impaired response to furosemide in hyperprostaglandin E syndrome: evidence for a tubular defect in the loop of Henle. ( 8859258 )
1996
37
Severe hyperprostaglandin E syndrome with hyperthyroidism--studies of pathogenetic mechanisms. ( 8892027 )
1996
38
Pre-pubertal growth in the hyperprostaglandin E syndrome. ( 8747113 )
1995
39
Treatment of hyperprostaglandin E syndrome with indomethacin. ( 8345440 )
1993
40
Calcium kinetics in the hyperprostaglandin E syndrome. ( 8433868 )
1993
41
Calcium homeostasis and hypercalciuria in hyperprostaglandin E syndrome. ( 1340758 )
1992
42
Role of prostaglandins in hyperprostaglandin E syndrome and in selected renal tubular disorders. ( 3153322 )
1987

Variations for Antenatal Bartter Syndrome

ClinVar genetic disease variations for Antenatal Bartter Syndrome:

6 (show top 50) (show all 156)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ1 NM_000220.4(KCNJ1): c.319A> G (p.Lys107Glu) single nucleotide variant Uncertain significance rs185212943 GRCh37 Chromosome 11, 128709877: 128709877
2 KCNJ1 NM_000220.4(KCNJ1): c.319A> G (p.Lys107Glu) single nucleotide variant Uncertain significance rs185212943 GRCh38 Chromosome 11, 128839982: 128839982
3 KCNJ1 NM_000220.4(KCNJ1): c.256A> G (p.Thr86Ala) single nucleotide variant Benign/Likely benign rs41302407 GRCh37 Chromosome 11, 128709940: 128709940
4 KCNJ1 NM_000220.4(KCNJ1): c.256A> G (p.Thr86Ala) single nucleotide variant Benign/Likely benign rs41302407 GRCh38 Chromosome 11, 128840045: 128840045
5 SLC12A1 NM_000338.2(SLC12A1): c.1614T> C (p.Tyr538=) single nucleotide variant Benign rs6493311 GRCh38 Chromosome 15, 48247390: 48247390
6 SLC12A1 NM_000338.2(SLC12A1): c.1614T> C (p.Tyr538=) single nucleotide variant Benign rs6493311 GRCh37 Chromosome 15, 48539587: 48539587
7 SLC12A1 NM_000338.2(SLC12A1): c.2873T> C (p.Val958Ala) single nucleotide variant Benign/Likely benign rs1552311 GRCh37 Chromosome 15, 48580713: 48580713
8 SLC12A1 NM_000338.2(SLC12A1): c.2873T> C (p.Val958Ala) single nucleotide variant Benign/Likely benign rs1552311 GRCh38 Chromosome 15, 48288516: 48288516
9 KCNJ1 NM_000220.4(KCNJ1): c.*1011C> T single nucleotide variant Benign rs675388 GRCh37 Chromosome 11, 128708009: 128708009
10 KCNJ1 NM_000220.4(KCNJ1): c.*1011C> T single nucleotide variant Benign rs675388 GRCh38 Chromosome 11, 128838114: 128838114
11 KCNJ1 NM_000220.4(KCNJ1): c.*676A> G single nucleotide variant Benign rs673992 GRCh37 Chromosome 11, 128708344: 128708344
12 KCNJ1 NM_000220.4(KCNJ1): c.*676A> G single nucleotide variant Benign rs673992 GRCh38 Chromosome 11, 128838449: 128838449
13 KCNJ1 NM_000220.4(KCNJ1): c.*669A> G single nucleotide variant Likely benign rs113342294 GRCh37 Chromosome 11, 128708351: 128708351
14 KCNJ1 NM_000220.4(KCNJ1): c.*669A> G single nucleotide variant Likely benign rs113342294 GRCh38 Chromosome 11, 128838456: 128838456
15 KCNJ1 NM_000220.4(KCNJ1): c.*507C> T single nucleotide variant Uncertain significance rs142091896 GRCh37 Chromosome 11, 128708513: 128708513
16 KCNJ1 NM_000220.4(KCNJ1): c.*507C> T single nucleotide variant Uncertain significance rs142091896 GRCh38 Chromosome 11, 128838618: 128838618
17 KCNJ1 NM_000220.4(KCNJ1): c.*499_*501dupCAA duplication Benign rs113008742 GRCh37 Chromosome 11, 128708519: 128708521
18 KCNJ1 NM_000220.4(KCNJ1): c.*499_*501dupCAA duplication Benign rs113008742 GRCh38 Chromosome 11, 128838624: 128838626
19 KCNJ1 NM_000220.4(KCNJ1): c.*348C> T single nucleotide variant Uncertain significance rs368293891 GRCh38 Chromosome 11, 128838777: 128838777
20 KCNJ1 NM_000220.4(KCNJ1): c.*348C> T single nucleotide variant Uncertain significance rs368293891 GRCh37 Chromosome 11, 128708672: 128708672
21 KCNJ1 NM_000220.4(KCNJ1): c.*16G> A single nucleotide variant Uncertain significance rs3181542 GRCh38 Chromosome 11, 128839109: 128839109
22 KCNJ1 NM_000220.4(KCNJ1): c.*16G> A single nucleotide variant Uncertain significance rs3181542 GRCh37 Chromosome 11, 128709004: 128709004
23 KCNJ1 NM_000220.4(KCNJ1): c.849G> A (p.Ala283=) single nucleotide variant Uncertain significance rs567888166 GRCh38 Chromosome 11, 128839452: 128839452
24 KCNJ1 NM_000220.4(KCNJ1): c.849G> A (p.Ala283=) single nucleotide variant Uncertain significance rs567888166 GRCh37 Chromosome 11, 128709347: 128709347
25 KCNJ1 NM_000220.4(KCNJ1): c.625C> T (p.Leu209Phe) single nucleotide variant Uncertain significance rs188249669 GRCh37 Chromosome 11, 128709571: 128709571
26 KCNJ1 NM_000220.4(KCNJ1): c.625C> T (p.Leu209Phe) single nucleotide variant Uncertain significance rs188249669 GRCh38 Chromosome 11, 128839676: 128839676
27 KCNJ1 NM_000220.4(KCNJ1): c.*964A> G single nucleotide variant Uncertain significance rs535158112 GRCh37 Chromosome 11, 128708056: 128708056
28 KCNJ1 NM_000220.4(KCNJ1): c.*964A> G single nucleotide variant Uncertain significance rs535158112 GRCh38 Chromosome 11, 128838161: 128838161
29 KCNJ1 NM_000220.4(KCNJ1): c.894T> C (p.Asp298=) single nucleotide variant Uncertain significance rs147861417 GRCh38 Chromosome 11, 128839407: 128839407
30 KCNJ1 NM_000220.4(KCNJ1): c.894T> C (p.Asp298=) single nucleotide variant Uncertain significance rs147861417 GRCh37 Chromosome 11, 128709302: 128709302
31 KCNJ1 NM_000220.4(KCNJ1): c.102G> A (p.Gly34=) single nucleotide variant Likely benign rs75088315 GRCh37 Chromosome 11, 128710094: 128710094
32 KCNJ1 NM_000220.4(KCNJ1): c.102G> A (p.Gly34=) single nucleotide variant Likely benign rs75088315 GRCh38 Chromosome 11, 128840199: 128840199
33 KCNJ1 NM_000220.4(KCNJ1): c.74G> A (p.Arg25Gln) single nucleotide variant Uncertain significance rs139185738 GRCh37 Chromosome 11, 128710122: 128710122
34 KCNJ1 NM_000220.4(KCNJ1): c.74G> A (p.Arg25Gln) single nucleotide variant Uncertain significance rs139185738 GRCh38 Chromosome 11, 128840227: 128840227
35 KCNJ1 NM_000220.4(KCNJ1): c.-14T> C single nucleotide variant Uncertain significance rs200666281 GRCh37 Chromosome 11, 128712326: 128712326
36 KCNJ1 NM_000220.4(KCNJ1): c.-14T> C single nucleotide variant Uncertain significance rs200666281 GRCh38 Chromosome 11, 128842431: 128842431
37 KCNJ1 NM_000220.4(KCNJ1): c.-105G> A single nucleotide variant Uncertain significance rs886047986 GRCh37 Chromosome 11, 128712417: 128712417
38 KCNJ1 NM_000220.4(KCNJ1): c.-105G> A single nucleotide variant Uncertain significance rs886047986 GRCh38 Chromosome 11, 128842522: 128842522
39 SLC12A1 NM_000338.2(SLC12A1): c.445G> A (p.Ala149Thr) single nucleotide variant Uncertain significance rs116848967 GRCh38 Chromosome 15, 48220658: 48220658
40 SLC12A1 NM_000338.2(SLC12A1): c.445G> A (p.Ala149Thr) single nucleotide variant Uncertain significance rs116848967 GRCh37 Chromosome 15, 48512855: 48512855
41 SLC12A1 NM_000338.2(SLC12A1): c.1265C> T (p.Thr422Ile) single nucleotide variant Uncertain significance rs886051212 GRCh38 Chromosome 15, 48241564: 48241564
42 SLC12A1 NM_000338.2(SLC12A1): c.1265C> T (p.Thr422Ile) single nucleotide variant Uncertain significance rs886051212 GRCh37 Chromosome 15, 48533761: 48533761
43 SLC12A1 NM_000338.2(SLC12A1): c.1855G> A (p.Val619Ile) single nucleotide variant Uncertain significance rs139589325 GRCh38 Chromosome 15, 48251683: 48251683
44 SLC12A1 NM_000338.2(SLC12A1): c.1855G> A (p.Val619Ile) single nucleotide variant Uncertain significance rs139589325 GRCh37 Chromosome 15, 48543880: 48543880
45 SLC12A1 NM_000338.2(SLC12A1): c.2098A> C (p.Ile700Leu) single nucleotide variant Uncertain significance rs768048553 GRCh37 Chromosome 15, 48551452: 48551452
46 SLC12A1 NM_000338.2(SLC12A1): c.2098A> C (p.Ile700Leu) single nucleotide variant Uncertain significance rs768048553 GRCh38 Chromosome 15, 48259255: 48259255
47 SLC12A1 NM_000338.2(SLC12A1): c.2296-6G> T single nucleotide variant Likely benign rs34047900 GRCh37 Chromosome 15, 48561849: 48561849
48 SLC12A1 NM_000338.2(SLC12A1): c.2296-6G> T single nucleotide variant Likely benign rs34047900 GRCh38 Chromosome 15, 48269652: 48269652
49 SLC12A1 NM_000338.2(SLC12A1): c.*158C> T single nucleotide variant Likely benign rs7163846 GRCh38 Chromosome 15, 48303043: 48303043
50 SLC12A1 NM_000338.2(SLC12A1): c.*158C> T single nucleotide variant Likely benign rs7163846 GRCh37 Chromosome 15, 48595240: 48595240

Expression for Antenatal Bartter Syndrome

Search GEO for disease gene expression data for Antenatal Bartter Syndrome.

Pathways for Antenatal Bartter Syndrome

Pathways related to Antenatal Bartter Syndrome according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.86 GNAS PTGER3 PTGER4 PTGS1 PTGS2
2
Show member pathways
12.79 GNAS PTGER1 PTGER3 PTGER4 PTGS2
3 12.55 GNAS PTGER1 PTGER3 PTGER4 PTGS2
4 11.96 GNAS PTGER4 PTGS2
5 11.71 GNAS PTGS1 PTGS2
6 11.39 GNAS PTGER4 REN
7 11.32 PTGER1 PTGER3 PTGER4 PTGS1 PTGS2
8 11.29 GNAS PTGER3 PTGS1 PTGS2
9
Show member pathways
11.23 PTGER1 PTGER3 PTGER4
10
Show member pathways
10.99 PTGS1 PTGS2
11 10.96 BSND KCNJ1 SLC12A1
12 10.92 PTGS1 PTGS2
13 10.89 PTGS1 PTGS2
14 10.83 PTGER1 PTGER3 PTGER4 PTGS1 PTGS2
15 10.77 PTGS1 PTGS2
16 10.63 PTGS1 PTGS2
17 10.47 PTGER1 PTGER3 PTGER4 PTGS1 PTGS2

GO Terms for Antenatal Bartter Syndrome

Biological processes related to Antenatal Bartter Syndrome according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cytosolic calcium ion concentration GO:0007204 9.67 PTGER1 PTGER3 PTGER4
2 regulation of blood pressure GO:0008217 9.5 PTGS1 PTGS2 REN
3 prostaglandin metabolic process GO:0006693 9.48 PTGS1 PTGS2
4 cellular response to prostaglandin E stimulus GO:0071380 9.46 GNAS PTGER4
5 response to lipopolysaccharide GO:0032496 9.46 PTGER1 PTGER4 PTGS2 REN
6 prostaglandin biosynthetic process GO:0001516 9.43 PTGS1 PTGS2
7 cyclooxygenase pathway GO:0019371 9.4 PTGS1 PTGS2
8 adenylate cyclase-activating dopamine receptor signaling pathway GO:0007191 9.37 GNAS PTGER1
9 inflammatory response GO:0006954 9.35 PTGER1 PTGER3 PTGER4 PTGS1 PTGS2
10 positive regulation of fever generation GO:0031622 9.26 PTGER3 PTGS2
11 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 8.92 GNAS PTGER1 PTGER3 PTGER4

Molecular functions related to Antenatal Bartter Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peroxidase activity GO:0004601 9.37 PTGS1 PTGS2
2 insulin-like growth factor receptor binding GO:0005159 9.32 GNAS REN
3 D1 dopamine receptor binding GO:0031748 9.26 GNAS PTGER1
4 prostaglandin-endoperoxide synthase activity GO:0004666 9.16 PTGS1 PTGS2
5 prostaglandin E receptor activity GO:0004957 9.13 PTGER1 PTGER3 PTGER4
6 prostaglandin receptor activity GO:0004955 8.8 PTGER1 PTGER3 PTGER4

Sources for Antenatal Bartter Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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