MCID: ANT061
MIFTS: 34

Antenatal Bartter Syndrome

Categories: Nephrological diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Antenatal Bartter Syndrome

MalaCards integrated aliases for Antenatal Bartter Syndrome:

Name: Antenatal Bartter Syndrome 59 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 polyhydramnios. 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 Pathways in cancer. Affiliated tissues include monocytes, 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 10.02 BSND GNAS KCNJ1 PTGER1 PTGER3 PTGER4
2 cardiovascular system MP:0005385 9.96 BSND GNAS KCNJ1 PTGER1 PTGER3 PTGER4
3 hematopoietic system MP:0005397 9.81 BSND GNAS KCNJ1 PTGER1 PTGER4 PTGS1
4 integument MP:0010771 9.56 GNAS KCNJ1 PTGER1 PTGER3 PTGER4 PTGS1
5 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

Anatomical Context for Antenatal Bartter Syndrome

MalaCards organs/tissues related to Antenatal Bartter Syndrome:

41
Monocytes

Publications for Antenatal Bartter Syndrome

Articles related to Antenatal Bartter Syndrome:

(show all 36)
# 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
Barttin mutations in antenatal Bartter syndrome with sensorineural deafness. ( 16773427 )
2006
21
Late-onset manifestation of antenatal Bartter syndrome as a result of residual function of the mutated renal Na+-K+-2Cl- co-transporter. ( 16807401 )
2006
22
Dominant role of prostaglandin E2 EP4 receptor in furosemide-induced salt-losing tubulopathy: a model for hyperprostaglandin E syndrome/antenatal Bartter syndrome. ( 15976003 )
2005
23
The role of cyclooxygenases and prostanoid receptorsin furosemide-like salt losing tubulopathy: the hyperprostaglandin E syndrome. ( 15283766 )
2004
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
Role of cyclooxygenase-2 in hyperprostaglandin E syndrome/antenatal Bartter syndrome. ( 12081585 )
2002
27
Functional heterogeneity of ROMK mutations linked to hyperprostaglandin E syndrome. ( 11318951 )
2001
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
Prenatal and postnatal management of hyperprostaglandin E syndrome after genetic diagnosis from amniocytes. ( 10049979 )
1999
31
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
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
Prostanoid biosynthesis by blood monocytes of children with hyperprostaglandin E syndrome. ( 9262230 )
1997
36
Marked reduction of Tamm-Horsfall protein synthesis in hyperprostaglandin E-syndrome. ( 8377383 )
1993

Variations for Antenatal Bartter Syndrome

ClinVar genetic disease variations for Antenatal Bartter Syndrome:

6
(show top 50) (show all 154)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ1 NM_000220.4(KCNJ1): c.256A> G (p.Thr86Ala) single nucleotide variant Benign/Likely benign rs41302407 GRCh37 Chromosome 11, 128709940: 128709940
2 KCNJ1 NM_000220.4(KCNJ1): c.256A> G (p.Thr86Ala) single nucleotide variant Benign/Likely benign rs41302407 GRCh38 Chromosome 11, 128840045: 128840045
3 SLC12A1 NM_000338.2(SLC12A1): c.1614T> C (p.Tyr538=) single nucleotide variant Benign rs6493311 GRCh38 Chromosome 15, 48247390: 48247390
4 SLC12A1 NM_000338.2(SLC12A1): c.1614T> C (p.Tyr538=) single nucleotide variant Benign rs6493311 GRCh37 Chromosome 15, 48539587: 48539587
5 SLC12A1 NM_000338.2(SLC12A1): c.2873T> C (p.Val958Ala) single nucleotide variant Benign/Likely benign rs1552311 GRCh37 Chromosome 15, 48580713: 48580713
6 SLC12A1 NM_000338.2(SLC12A1): c.2873T> C (p.Val958Ala) single nucleotide variant Benign/Likely benign rs1552311 GRCh38 Chromosome 15, 48288516: 48288516
7 KCNJ1 NM_000220.4(KCNJ1): c.*1011C> T single nucleotide variant Benign rs675388 GRCh37 Chromosome 11, 128708009: 128708009
8 KCNJ1 NM_000220.4(KCNJ1): c.*1011C> T single nucleotide variant Benign rs675388 GRCh38 Chromosome 11, 128838114: 128838114
9 KCNJ1 NM_000220.4(KCNJ1): c.*676A> G single nucleotide variant Benign rs673992 GRCh37 Chromosome 11, 128708344: 128708344
10 KCNJ1 NM_000220.4(KCNJ1): c.*676A> G single nucleotide variant Benign rs673992 GRCh38 Chromosome 11, 128838449: 128838449
11 KCNJ1 NM_000220.4(KCNJ1): c.*669A> G single nucleotide variant Likely benign rs113342294 GRCh37 Chromosome 11, 128708351: 128708351
12 KCNJ1 NM_000220.4(KCNJ1): c.*669A> G single nucleotide variant Likely benign rs113342294 GRCh38 Chromosome 11, 128838456: 128838456
13 KCNJ1 NM_000220.4(KCNJ1): c.*507C> T single nucleotide variant Uncertain significance rs142091896 GRCh37 Chromosome 11, 128708513: 128708513
14 KCNJ1 NM_000220.4(KCNJ1): c.*507C> T single nucleotide variant Uncertain significance rs142091896 GRCh38 Chromosome 11, 128838618: 128838618
15 KCNJ1 NM_000220.4(KCNJ1): c.*499_*501dupCAA duplication Benign rs113008742 GRCh37 Chromosome 11, 128708519: 128708521
16 KCNJ1 NM_000220.4(KCNJ1): c.*499_*501dupCAA duplication Benign rs113008742 GRCh38 Chromosome 11, 128838624: 128838626
17 KCNJ1 NM_000220.4(KCNJ1): c.*348C> T single nucleotide variant Uncertain significance rs368293891 GRCh38 Chromosome 11, 128838777: 128838777
18 KCNJ1 NM_000220.4(KCNJ1): c.*348C> T single nucleotide variant Uncertain significance rs368293891 GRCh37 Chromosome 11, 128708672: 128708672
19 KCNJ1 NM_000220.4(KCNJ1): c.*16G> A single nucleotide variant Uncertain significance rs3181542 GRCh38 Chromosome 11, 128839109: 128839109
20 KCNJ1 NM_000220.4(KCNJ1): c.*16G> A single nucleotide variant Uncertain significance rs3181542 GRCh37 Chromosome 11, 128709004: 128709004
21 KCNJ1 NM_000220.4(KCNJ1): c.849G> A (p.Ala283=) single nucleotide variant Uncertain significance rs567888166 GRCh38 Chromosome 11, 128839452: 128839452
22 KCNJ1 NM_000220.4(KCNJ1): c.849G> A (p.Ala283=) single nucleotide variant Uncertain significance rs567888166 GRCh37 Chromosome 11, 128709347: 128709347
23 KCNJ1 NM_000220.4(KCNJ1): c.625C> T (p.Leu209Phe) single nucleotide variant Uncertain significance rs188249669 GRCh37 Chromosome 11, 128709571: 128709571
24 KCNJ1 NM_000220.4(KCNJ1): c.625C> T (p.Leu209Phe) single nucleotide variant Uncertain significance rs188249669 GRCh38 Chromosome 11, 128839676: 128839676
25 KCNJ1 NM_000220.4(KCNJ1): c.*964A> G single nucleotide variant Uncertain significance rs535158112 GRCh37 Chromosome 11, 128708056: 128708056
26 KCNJ1 NM_000220.4(KCNJ1): c.*964A> G single nucleotide variant Uncertain significance rs535158112 GRCh38 Chromosome 11, 128838161: 128838161
27 KCNJ1 NM_000220.4(KCNJ1): c.894T> C (p.Asp298=) single nucleotide variant Uncertain significance rs147861417 GRCh37 Chromosome 11, 128709302: 128709302
28 KCNJ1 NM_000220.4(KCNJ1): c.894T> C (p.Asp298=) single nucleotide variant Uncertain significance rs147861417 GRCh38 Chromosome 11, 128839407: 128839407
29 KCNJ1 NM_000220.4(KCNJ1): c.102G> A (p.Gly34=) single nucleotide variant Likely benign rs75088315 GRCh37 Chromosome 11, 128710094: 128710094
30 KCNJ1 NM_000220.4(KCNJ1): c.102G> A (p.Gly34=) single nucleotide variant Likely benign rs75088315 GRCh38 Chromosome 11, 128840199: 128840199
31 KCNJ1 NM_000220.4(KCNJ1): c.74G> A (p.Arg25Gln) single nucleotide variant Uncertain significance rs139185738 GRCh37 Chromosome 11, 128710122: 128710122
32 KCNJ1 NM_000220.4(KCNJ1): c.74G> A (p.Arg25Gln) single nucleotide variant Uncertain significance rs139185738 GRCh38 Chromosome 11, 128840227: 128840227
33 KCNJ1 NM_000220.4(KCNJ1): c.-14T> C single nucleotide variant Uncertain significance rs200666281 GRCh38 Chromosome 11, 128842431: 128842431
34 KCNJ1 NM_000220.4(KCNJ1): c.-14T> C single nucleotide variant Uncertain significance rs200666281 GRCh37 Chromosome 11, 128712326: 128712326
35 KCNJ1 NM_000220.4(KCNJ1): c.-105G> A single nucleotide variant Uncertain significance rs886047986 GRCh37 Chromosome 11, 128712417: 128712417
36 KCNJ1 NM_000220.4(KCNJ1): c.-105G> A single nucleotide variant Uncertain significance rs886047986 GRCh38 Chromosome 11, 128842522: 128842522
37 SLC12A1 NM_000338.2(SLC12A1): c.445G> A (p.Ala149Thr) single nucleotide variant Uncertain significance rs116848967 GRCh38 Chromosome 15, 48220658: 48220658
38 SLC12A1 NM_000338.2(SLC12A1): c.445G> A (p.Ala149Thr) single nucleotide variant Uncertain significance rs116848967 GRCh37 Chromosome 15, 48512855: 48512855
39 SLC12A1 NM_000338.2(SLC12A1): c.1265C> T (p.Thr422Ile) single nucleotide variant Uncertain significance rs886051212 GRCh38 Chromosome 15, 48241564: 48241564
40 SLC12A1 NM_000338.2(SLC12A1): c.1265C> T (p.Thr422Ile) single nucleotide variant Uncertain significance rs886051212 GRCh37 Chromosome 15, 48533761: 48533761
41 SLC12A1 NM_000338.2(SLC12A1): c.1855G> A (p.Val619Ile) single nucleotide variant Uncertain significance rs139589325 GRCh38 Chromosome 15, 48251683: 48251683
42 SLC12A1 NM_000338.2(SLC12A1): c.1855G> A (p.Val619Ile) single nucleotide variant Uncertain significance rs139589325 GRCh37 Chromosome 15, 48543880: 48543880
43 SLC12A1 NM_000338.2(SLC12A1): c.2098A> C (p.Ile700Leu) single nucleotide variant Uncertain significance rs768048553 GRCh38 Chromosome 15, 48259255: 48259255
44 SLC12A1 NM_000338.2(SLC12A1): c.2098A> C (p.Ile700Leu) single nucleotide variant Uncertain significance rs768048553 GRCh37 Chromosome 15, 48551452: 48551452
45 SLC12A1 NM_000338.2(SLC12A1): c.*300T> C single nucleotide variant Likely benign rs78562329 GRCh38 Chromosome 15, 48303185: 48303185
46 SLC12A1 NM_000338.2(SLC12A1): c.2296-6G> T single nucleotide variant Likely benign rs34047900 GRCh37 Chromosome 15, 48561849: 48561849
47 SLC12A1 NM_000338.2(SLC12A1): c.2296-6G> T single nucleotide variant Likely benign rs34047900 GRCh38 Chromosome 15, 48269652: 48269652
48 SLC12A1 NM_000338.2(SLC12A1): c.*158C> T single nucleotide variant Likely benign rs7163846 GRCh38 Chromosome 15, 48303043: 48303043
49 SLC12A1 NM_000338.2(SLC12A1): c.*158C> T single nucleotide variant Likely benign rs7163846 GRCh37 Chromosome 15, 48595240: 48595240
50 SLC12A1 NM_000338.2(SLC12A1): c.*300T> C single nucleotide variant Likely benign rs78562329 GRCh37 Chromosome 15, 48595382: 48595382

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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.86 GNAS PTGER3 PTGER4 PTGS1 PTGS2
2 12.55 GNAS PTGER1 PTGER3 PTGER4 PTGS2
3 11.95 GNAS PTGER4 PTGS2
4 11.71 GNAS PTGS1 PTGS2
5 11.39 GNAS PTGER4 REN
6 11.32 PTGER1 PTGER3 PTGER4 PTGS1 PTGS2
7 11.29 GNAS PTGER3 PTGS1 PTGS2
8
Show member pathways
11.23 PTGER1 PTGER3 PTGER4
9
Show member pathways
10.97 PTGS1 PTGS2
10 10.96 BSND KCNJ1 SLC12A1
11 10.9 PTGS1 PTGS2
12 10.87 PTGS1 PTGS2
13 10.83 PTGER1 PTGER3 PTGER4 PTGS1 PTGS2
14 10.77 PTGS1 PTGS2
15 10.63 PTGS1 PTGS2
16 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:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of cytosolic calcium ion concentration GO:0007204 9.65 PTGER1 PTGER3 PTGER4
2 response to lipopolysaccharide GO:0032496 9.56 PTGER1 PTGER4 PTGS2 REN
3 inflammatory response GO:0006954 9.55 PTGER1 PTGER3 PTGER4 PTGS1 PTGS2
4 regulation of blood pressure GO:0008217 9.5 PTGS1 PTGS2 REN
5 prostaglandin metabolic process GO:0006693 9.46 PTGS1 PTGS2
6 cellular response to prostaglandin E stimulus GO:0071380 9.43 GNAS PTGER4
7 prostaglandin biosynthetic process GO:0001516 9.4 PTGS1 PTGS2
8 cyclooxygenase pathway GO:0019371 9.37 PTGS1 PTGS2
9 positive regulation of fever generation GO:0031622 8.96 PTGER3 PTGS2
10 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 9.32 PTGS1 PTGS2
2 insulin-like growth factor receptor binding GO:0005159 9.26 GNAS REN
3 prostaglandin-endoperoxide synthase activity GO:0004666 9.16 PTGS1 PTGS2
4 prostaglandin E receptor activity GO:0004957 9.13 PTGER1 PTGER3 PTGER4
5 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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