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 58 29 6
Hyperprostaglandin E Syndrome 58 54
Bartter Syndrome, Furosemide-Amiloride Type 58
Bartter Syndrome, Furosemide Type 58

Characteristics:

Orphanet epidemiological data:

58
antenatal bartter syndrome
Inheritance: Autosomal recessive,X-linked recessive; Age of onset: Antenatal,Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

ICD10 via Orphanet 33 E26.8
Orphanet 58 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 syndrome, type 2, antenatal. An important gene associated with Antenatal Bartter Syndrome is KCNJ1 (Potassium Inwardly Rectifying 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 monocytes, and related phenotypes are behavior/neurological and cardiovascular system

Related Diseases for Antenatal Bartter Syndrome

Diseases in the Antenatal Bartter Syndrome family:

Bartter Syndrome, Type 2, Antenatal Bartter Syndrome, Type 5, Antenatal, Transient
Bartter Syndrome, Type 1, Antenatal Transient Antenatal Bartter Syndrome

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 bartter syndrome, type 1, antenatal 33.5 SLC12A1 KCNJ1
2 bartter syndrome, type 2, antenatal 33.4 SLC12A1 KCNJ1
3 transient antenatal bartter syndrome 33.0 NAP1L4 NAP1L1 MAGED2 GNAS DNAJB1
4 bartter disease 32.5 SLC12A1 REN MAGED2 KCNJ1 BSND
5 bartter syndrome, type 4a, neonatal, with sensorineural deafness 30.8 KCNJ1 BSND
6 nephrocalcinosis 30.6 SLC12A1 REN KCNJ1 BSND
7 diabetes insipidus 30.4 SLC12A1 REN BSND
8 hypokalemia 30.4 SLC12A1 REN KCNJ1 BSND
9 diabetes insipidus, nephrogenic, autosomal 30.2 SLC12A1 REN KCNJ1 BSND
10 pseudohyperkalemia, familial, 2, due to red cell leak 30.2 REN KCNJ1
11 gitelman syndrome 30.0 SLC12A1 REN KCNJ1 BSND
12 polyhydramnios 28.8 SLC12A1 REN NAP1L4 NAP1L1 MAGED2 KCNJ1
13 bartter syndrome, type 5, antenatal, transient 11.4
14 branchiootic syndrome 1 10.3
15 diarrhea 10.3
16 sensorineural hearing loss 10.2
17 bartter syndrome type 4 10.2
18 hypomagnesemia 5, renal, with or without ocular involvement 10.2 SLC12A1 KCNJ1 BSND
19 primary hypomagnesemia 10.1 SLC12A1 KCNJ1
20 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 10.1 SLC12A1 KCNJ1 BSND
21 dent disease 1 10.1 SLC12A1 KCNJ1 BSND
22 arthrogryposis, distal, type 3 10.1 SLC12A1 REN KCNJ1
23 enterocolitis 10.1
24 chylomicron retention disease 10.1
25 fanconi renotubular syndrome 2 10.1
26 twin-to-twin transfusion syndrome 10.1
27 bone resorption disease 10.1
28 fanconi syndrome 10.1
29 hyperthyroidism 10.1
30 perinatal necrotizing enterocolitis 10.1
31 mineral metabolism disease 10.1 SLC12A1 REN KCNJ1
32 aspirin resistance 10.1 PTGS2 PTGS1
33 hypercalciuria, absorptive, 2 10.0
34 autosomal recessive disease 10.0
35 allergic hypersensitivity disease 10.0
36 acute cystitis 10.0
37 hyperparathyroidism 10.0
38 hyperuricemia 10.0
39 constipation 10.0
40 pseudohypoaldosteronism 10.0
41 intestinal obstruction 10.0
42 growth hormone deficiency 10.0
43 hypocalcemia, autosomal dominant 1 10.0 KCNJ1 GNAS BSND
44 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.0 PTGS2 PTGS1
45 apparent mineralocorticoid excess 10.0 REN KCNJ1
46 active peptic ulcer disease 10.0 PTGS2 PTGS1
47 chronic cystitis 10.0 PTGS2 PTGS1
48 bartter syndrome, type 3 10.0 SLC12A1 REN KCNJ1 BSND
49 renal tubular transport disease 9.9 SLC12A1 REN KCNJ1 BSND
50 liddle syndrome 1 9.9 SLC12A1 REN KCNJ1 BSND

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.16 BSND GNAS KCNJ1 PTGER1 PTGER3 PTGER4
2 cardiovascular system MP:0005385 10.13 BSND GNAS KCNJ1 PTGER1 PTGER3 PTGER4
3 homeostasis/metabolism MP:0005376 10.07 BSND GNAS KCNJ1 PTGER1 PTGER3 PTGER4
4 hematopoietic system MP:0005397 10.06 BSND GNAS KCNJ1 PTGER1 PTGER4 PTGS1
5 mortality/aging MP:0010768 10 BSND GNAS KCNJ1 NAP1L1 PTGER1 PTGER3
6 integument MP:0010771 9.92 GNAS KCNJ1 PTGER1 PTGER3 PTGER4 PTGS1
7 muscle MP:0005369 9.63 GNAS PTGER3 PTGER4 PTGS1 PTGS2 REN
8 neoplasm MP:0002006 9.35 GNAS PTGER1 PTGER4 PTGS1 PTGS2
9 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:

40
Kidney, Monocytes

Publications for Antenatal Bartter Syndrome

Articles related to Antenatal Bartter Syndrome:

(show top 50) (show all 94)
# Title Authors PMID Year
1
Expression of the potassium channel ROMK in adult and fetal human kidney. 54 61
15895241 2005
2
Induction of microsomal prostaglandin E2 synthase in the macula densa in children with hypokalemic salt-losing tubulopathies. 54 61
14630996 2004
3
Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome. 54 61
12911542 2003
4
Hereditary Hypokalemic Salt-losing Tubular Disorders. 61 54
17657111 2003
5
Pathogenetic role of cyclooxygenase-2 in hyperprostaglandin E syndrome/antenatal Bartter syndrome: therapeutic use of the cyclooxygenase-2 inhibitor nimesulide. 54 61
11673754 2001
6
Functional heterogeneity of ROMK mutations linked to hyperprostaglandin E syndrome. 61 54
11318951 2001
7
A hyperprostaglandin E syndrome mutation in Kir1.1 (renal outer medullary potassium) channels reveals a crucial residue for channel function in Kir1.3 channels. 54 61
9727001 1998
8
The molecular genetic approach to "Bartter's syndrome". 61 54
9587066 1998
9
Antenatal Bartter Syndrome: A Case Report. 61
32506108 2020
10
A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I. 61
30977917 2019
11
Antenatal Bartter Syndrome Caused by a Novel Homozygous Mutation in SLC12A1 Gene. 61
31571745 2019
12
Growth hormone deficiency in children with antenatal Bartter syndrome. 61
30844761 2019
13
Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome. 61
29146702 2018
14
Antenatal Bartter syndrome presenting with vomiting and constipation mimicking subacute intestinal obstruction in a 20-day-old neonate. 61
29141924 2017
15
Pathophysiology of antenatal Bartter's syndrome. 61
28598867 2017
16
Cisplatin Therapy Does Not Worsen Renal Function in Severe Antenatal Bartter Syndrome. 61
28612006 2017
17
A novel variant in the SLC12A1 gene in two families with antenatal Bartter syndrome. 61
27748541 2017
18
Fetal urine biochemistry in antenatal Bartter syndrome: a case report. 61
27648267 2016
19
Renal physiology: MAGED2 mutations in transient antenatal Bartter syndrome. 61
27181088 2016
20
Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism. 61
26963954 2016
21
Antenatal Bartter syndrome resembling nephrogenic diabetes insipidus in a 5-year-old boy. 61
25935500 2016
22
Diagnosis of antenatal Bartter syndrome. 61
27328514 2016
23
Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review. 61
25741940 2015
24
KCNJ1 inhibits tumor proliferation and metastasis and is a prognostic factor in clear cell renal cell carcinoma. 61
25344677 2015
25
Genetic analysis in Bartter syndrome from India. 61
24696311 2014
26
Antenatal Bartter syndrome. 61
24906263 2014
27
Severe early onset hydramnios in a singleton pregnancy due to antenatal Bartter syndrome. 61
24483758 2014
28
Expanding the spectrum of genetic mutations in antenatal Bartter syndrome type II. 61
23782368 2013
29
Hypothesis: SLC12A3 Polymorphism modifies thiazide hypersensitivity of antenatal Bartter syndrome to thiazide resistance. 61
22245519 2012
30
Antenatal bartter syndrome: a review. 61
22518185 2012
31
Recurrent urinary tract infections in an infant with antenatal Bartter syndrome. 61
20127218 2011
32
Antenatal Bartter syndrome: a rare cause of unexplained severe polyhydramnios. 61
21575321 2011
33
A case of antenatal Bartter syndrome with sensorineural deafness. 61
21158220 2010
34
Long-term follow-up of patients with Bartter syndrome type I and II. 61
20219833 2010
35
Hypokalemic rhabdomyolysis in congenital tubular disorders: a case series and a systematic review. 61
20033223 2010
36
Antenatal Bartter syndrome: analysis of two cases with placental findings. 61
20450264 2010
37
Deletion of exons 2-4 in the BSND gene causes severe antenatal Bartter syndrome. 61
18843510 2009
38
The Kir channel immunoglobulin domain is essential for Kir1.1 (ROMK) thermodynamic stability, trafficking and gating. 61
19221509 2009
39
An improved terminology and classification of Bartter-like syndromes. 61
18695706 2008
40
Functional and structural characterization of PKA-mediated pHi gating of ROMK1 channels. 61
18620882 2008
41
Hyperprostaglandin E syndrome: use of indomethacin and steroid, and death due to necrotizing enterocolitis and sepsis. 61
19014056 2008
42
Mouse model of type II Bartter's syndrome. I. Upregulation of thiazide-sensitive Na-Cl cotransport activity. 61
18385266 2008
43
Report of a family with two different hereditary diseases leading to early nephrocalcinosis. 61
17899212 2008
44
[Antenatal Bartter syndrome]. 61
17323461 2007
45
Prenatal diagnosis of Bartter syndrome with biochemical examination of amniotic fluid: case report. 61
17228161 2007
46
Late-onset manifestation of antenatal Bartter syndrome as a result of residual function of the mutated renal Na+-K+-2Cl- co-transporter. 61
16807401 2006
47
Barttin mutations in antenatal Bartter syndrome with sensorineural deafness. 61
16773427 2006
48
Dominant role of prostaglandin E2 EP4 receptor in furosemide-induced salt-losing tubulopathy: a model for hyperprostaglandin E syndrome/antenatal Bartter syndrome. 61
15976003 2005
49
Salt handling in the distal nephron: lessons learned from inherited human disorders. 61
15793031 2005
50
[Hyperprostaglandin E syndrome in rabbits]. 61
16231511 2005

Variations for Antenatal Bartter Syndrome

ClinVar genetic disease variations for Antenatal Bartter Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNJ1 NM_000220.5(KCNJ1):c.*597C>TSNV Uncertain significance 303558 rs117189807 11:128708423-128708423 11:128838528-128838528
2 KCNJ1 NM_000220.5(KCNJ1):c.*141G>ASNV Uncertain significance 303565 rs191121237 11:128708879-128708879 11:128838984-128838984
3 KCNJ1 NM_000220.5(KCNJ1):c.*669A>GSNV Likely benign 303557 rs113342294 11:128708351-128708351 11:128838456-128838456
4 KCNJ1 NM_000220.5(KCNJ1):c.256A>G (p.Thr86Ala)SNV Benign/Likely benign 235236 rs41302407 11:128709940-128709940 11:128840045-128840045
5 KCNJ1 NM_000220.5(KCNJ1):c.102G>A (p.Gly34=)SNV Benign/Likely benign 303575 rs75088315 11:128710094-128710094 11:128840199-128840199
6 KCNJ1 NM_000220.5(KCNJ1):c.*1045C>GSNV Benign 303553 rs675759 11:128707975-128707975 11:128838080-128838080
7 KCNJ1 NM_000220.5(KCNJ1):c.*73A>TSNV Benign 303567 rs1231254 11:128708947-128708947 11:128839052-128839052
8 KCNJ1 NM_000220.5(KCNJ1):c.*1011C>TSNV Benign 303554 rs675388 11:128708009-128708009 11:128838114-128838114
9 KCNJ1 NM_000220.5(KCNJ1):c.*676A>GSNV Benign 303556 rs673992 11:128708344-128708344 11:128838449-128838449
10 KCNJ1 NM_000220.5(KCNJ1):c.*499_*501dupduplication Benign 303561 rs113008742 11:128708518-128708519 11:128838623-128838624

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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.82 PTGS2 PTGS1 PTGER4 PTGER3 GNAS
2
Show member pathways
12.65 PTGS2 PTGER4 PTGER3 PTGER1 GNAS
3 12.53 PTGS2 PTGER4 PTGER3 PTGER1 GNAS
4
Show member pathways
12.05 PTGER3 PTGER1 GNAS
5 11.95 PTGS2 PTGER4 GNAS
6 11.71 PTGS2 PTGS1 GNAS
7 11.45 REN PTGER4 GNAS
8 11.32 PTGS2 PTGS1 PTGER4 PTGER3 PTGER1
9 11.31 PTGS2 PTGS1 PTGER3 GNAS
10
Show member pathways
11.23 PTGER4 PTGER3 PTGER1
11
Show member pathways
11 PTGS2 PTGS1
12 10.96 SLC12A1 KCNJ1 BSND
13 10.93 PTGS2 PTGS1
14 10.9 PTGS2 PTGS1
15 10.83 PTGS2 PTGS1 PTGER4 PTGER3 PTGER1
16 10.8 PTGS2 PTGS1
17 10.67 PTGS2 PTGS1
18 10.47 PTGS2 PTGS1 PTGER4 PTGER3 PTGER1

GO Terms for Antenatal Bartter Syndrome

Cellular components related to Antenatal Bartter Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.4 SLC12A1 REN PTGS2 PTGS1 PTGER4 PTGER3

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 9.65 PTGER4 PTGER3 PTGER1
2 regulation of blood pressure GO:0008217 9.5 REN PTGS2 PTGS1
3 prostaglandin metabolic process GO:0006693 9.49 PTGS2 PTGS1
4 prostaglandin biosynthetic process GO:0001516 9.46 PTGS2 PTGS1
5 response to lipopolysaccharide GO:0032496 9.46 REN PTGS2 PTGER4 PTGER1
6 cellular response to prostaglandin E stimulus GO:0071380 9.43 PTGER4 GNAS
7 cyclooxygenase pathway GO:0019371 9.4 PTGS2 PTGS1
8 adenylate cyclase-activating dopamine receptor signaling pathway GO:0007191 9.37 PTGER1 GNAS
9 inflammatory response GO:0006954 9.35 PTGS2 PTGS1 PTGER4 PTGER3 PTGER1
10 positive regulation of fever generation GO:0031622 9.26 PTGS2 PTGER3
11 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 8.92 PTGER4 PTGER3 PTGER1 GNAS

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

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

Sources for Antenatal Bartter Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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