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 60 30 6
Hyperprostaglandin E Syndrome 60 56
Bartter Syndrome, Furosemide-Amiloride Type 60
Bartter Syndrome, Furosemide Type 60

Characteristics:

Orphanet epidemiological data:

60
antenatal bartter syndrome
Inheritance: Autosomal recessive,X-linked recessive; Age of onset: Antenatal,Infancy,Neonatal;

Classifications:

Orphanet: 60  
Rare renal diseases


External Ids:

ICD10 via Orphanet 35 E26.8
Orphanet 60 ORPHA93604

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 monocytes and 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:

47
# 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 30

Anatomical Context for Antenatal Bartter Syndrome

MalaCards organs/tissues related to Antenatal Bartter Syndrome:

42
Monocytes, Kidney

Publications for Antenatal Bartter Syndrome

Articles related to Antenatal Bartter Syndrome:

(show all 50)
# Title Authors Year
1
Growth hormone deficiency in children with antenatal Bartter syndrome. ( 30844761 )
2019
2
A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I. ( 30977917 )
2019
3
Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome. ( 29146702 )
2018
4
A novel variant in the SLC12A1 gene in two families with antenatal Bartter syndrome. ( 27748541 )
2017
5
Cisplatin Therapy Does Not Worsen Renal Function in Severe Antenatal Bartter Syndrome. ( 28612006 )
2017
6
Antenatal Bartter syndrome presenting with vomiting and constipation mimicking subacute intestinal obstruction in a 20-day-old neonate. ( 29141924 )
2017
7
Antenatal Bartter syndrome resembling nephrogenic diabetes insipidus in a 5-year-old boy. ( 25935500 )
2016
8
Renal physiology: MAGED2 mutations in transient antenatal Bartter syndrome. ( 27181088 )
2016
9
Diagnosis of antenatal Bartter syndrome. ( 27328514 )
2016
10
Fetal urine biochemistry in antenatal Bartter syndrome: a case report. ( 27648267 )
2016
11
Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review. ( 25741940 )
2015
12
Severe early onset hydramnios in a singleton pregnancy due to antenatal Bartter syndrome. ( 24483758 )
2014
13
Antenatal Bartter syndrome. ( 24906263 )
2014
14
Expanding the spectrum of genetic mutations in antenatal Bartter syndrome type II. ( 23782368 )
2013
15
Hypothesis: SLC12A3 Polymorphism modifies thiazide hypersensitivity of antenatal Bartter syndrome to thiazide resistance. ( 22245519 )
2012
16
Antenatal bartter syndrome: a review. ( 22518185 )
2012
17
Recurrent urinary tract infections in an infant with antenatal Bartter syndrome. ( 20127218 )
2011
18
Antenatal Bartter syndrome: a rare cause of unexplained severe polyhydramnios. ( 21575321 )
2011
19
Antenatal Bartter syndrome: analysis of two cases with placental findings. ( 20450264 )
2010
20
A case of antenatal Bartter syndrome with sensorineural deafness. ( 21158220 )
2010
21
Deletion of exons 2-4 in the BSND gene causes severe antenatal Bartter syndrome. ( 18843510 )
2009
22
Hyperprostaglandin E syndrome: use of indomethacin and steroid, and death due to necrotizing enterocolitis and sepsis. ( 19014056 )
2008
23
Barttin mutations in antenatal Bartter syndrome with sensorineural deafness. ( 16773427 )
2006
24
Late-onset manifestation of antenatal Bartter syndrome as a result of residual function of the mutated renal Na+-K+-2Cl- co-transporter. ( 16807401 )
2006
25
Dominant role of prostaglandin E2 EP4 receptor in furosemide-induced salt-losing tubulopathy: a model for hyperprostaglandin E syndrome/antenatal Bartter syndrome. ( 15976003 )
2005
26
The role of cyclooxygenases and prostanoid receptorsin furosemide-like salt losing tubulopathy: the hyperprostaglandin E syndrome. ( 15283766 )
2004
27
Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome. ( 12911542 )
2003
28
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
29
Successful management of an extreme example of neonatal hyperprostaglandin-E syndrome (Bartter's syndrome) with the new cyclooxygenase-2 inhibitor rofecoxib. ( 12749662 )
2003
30
Role of cyclooxygenase-2 in hyperprostaglandin E syndrome/antenatal Bartter syndrome. ( 12081585 )
2002
31
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
32
Pathogenetic role of cyclooxygenase-2 in hyperprostaglandin E syndrome/antenatal Bartter syndrome: therapeutic use of the cyclooxygenase-2 inhibitor nimesulide. ( 11673754 )
2001
33
Functional heterogeneity of ROMK mutations linked to hyperprostaglandin E syndrome. ( 11318951 )
2001
34
Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31. ( 10862633 )
2000
35
pH gating of ROMK (K(ir)1.1) channels: control by an Arg-Lys-Arg triad disrupted in antenatal Bartter syndrome. ( 10611379 )
1999
36
Prenatal and postnatal management of hyperprostaglandin E syndrome after genetic diagnosis from amniocytes. ( 10049979 )
1999
37
Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome. ( 9585600 )
1998
38
Large deletion of the 5' end of the ROMK1 gene causes antenatal Bartter syndrome. ( 9848791 )
1998
39
A hyperprostaglandin E syndrome mutation in Kir1.1 (renal outer medullary potassium) channels reveals a crucial residue for channel function in Kir1.3 channels. ( 9727001 )
1998
40
Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K+ channel function. ( 9015377 )
1997
41
Prostanoid biosynthesis by blood monocytes of children with hyperprostaglandin E syndrome. ( 9262230 )
1997
42
The hyperprostaglandin E syndrome: a hypercalciuric variant of Bartter's syndrome. ( 9333138 )
1997
43
Severe hyperprostaglandin E syndrome with hyperthyroidism--studies of pathogenetic mechanisms. ( 8892027 )
1996
44
Impaired response to furosemide in hyperprostaglandin E syndrome: evidence for a tubular defect in the loop of Henle. ( 8859258 )
1996
45
Pre-pubertal growth in the hyperprostaglandin E syndrome. ( 8747113 )
1995
46
Treatment of hyperprostaglandin E syndrome with indomethacin. ( 8345440 )
1993
47
Marked reduction of Tamm-Horsfall protein synthesis in hyperprostaglandin E-syndrome. ( 8377383 )
1993
48
Calcium kinetics in the hyperprostaglandin E syndrome. ( 8433868 )
1993
49
Calcium homeostasis and hypercalciuria in hyperprostaglandin E syndrome. ( 1340758 )
1992
50
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 GRCh38 Chromosome 11, 128838114: 128838114
10 KCNJ1 NM_000220.4(KCNJ1): c.*1011C> T single nucleotide variant Benign rs675388 GRCh37 Chromosome 11, 128708009: 128708009
11 KCNJ1 NM_000220.4(KCNJ1): c.*676A> G single nucleotide variant Benign rs673992 GRCh38 Chromosome 11, 128838449: 128838449
12 KCNJ1 NM_000220.4(KCNJ1): c.*676A> G single nucleotide variant Benign rs673992 GRCh37 Chromosome 11, 128708344: 128708344
13 KCNJ1 NM_000220.4(KCNJ1): c.*669A> G single nucleotide variant Likely benign rs113342294 GRCh38 Chromosome 11, 128838456: 128838456
14 KCNJ1 NM_000220.4(KCNJ1): c.*669A> G single nucleotide variant Likely benign rs113342294 GRCh37 Chromosome 11, 128708351: 128708351
15 KCNJ1 NM_000220.4(KCNJ1): c.*507C> T single nucleotide variant Uncertain significance rs142091896 GRCh38 Chromosome 11, 128838618: 128838618
16 KCNJ1 NM_000220.4(KCNJ1): c.*507C> T single nucleotide variant Uncertain significance rs142091896 GRCh37 Chromosome 11, 128708513: 128708513
17 KCNJ1 NM_000220.4(KCNJ1): c.*499_*501dupCAA duplication Benign rs113008742 GRCh38 Chromosome 11, 128838624: 128838626
18 KCNJ1 NM_000220.4(KCNJ1): c.*499_*501dupCAA duplication Benign rs113008742 GRCh37 Chromosome 11, 128708519: 128708521
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 GRCh38 Chromosome 11, 128838161: 128838161
28 KCNJ1 NM_000220.4(KCNJ1): c.*964A> G single nucleotide variant Uncertain significance rs535158112 GRCh37 Chromosome 11, 128708056: 128708056
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
12.7 GNAS PTGER1 PTGER3 PTGER4 PTGS2
3 12.56 GNAS PTGER1 PTGER3 PTGER4 PTGS2
4 11.96 GNAS PTGER4 PTGS2
5 11.71 GNAS PTGS1 PTGS2
6 11.42 GNAS PTGER4 REN
7 11.32 PTGER1 PTGER3 PTGER4 PTGS1 PTGS2
8 11.3 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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