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MCID: ANT061
MIFTS: 37

Antenatal Bartter Syndrome

Categories: Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways
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Aliases & Classifications for Antenatal Bartter Syndrome

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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:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases Fetal diseases
Anatomical: Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare renal diseases


External Ids:

ICD10 via Orphanet 33 E26.8
Orphanet 58 ORPHA93604
Sources

Summaries for Antenatal Bartter Syndrome

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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

Sources

Related Diseases for Antenatal Bartter Syndrome

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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:

(showing 56, show less)
# 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
51 hydrops, lactic acidosis, and sideroblastic anemia 9.9 PTGS2 PTGS1
52 kidney papillary necrosis 9.9 REN PTGS2 PTGS1
53 pseudohypoaldosteronism, type i, autosomal recessive 9.8 REN KCNJ1
54 skin amelanotic melanoma 9.3 PTGER4 PTGER3 PTGER1
55 primary hypertrophic osteoarthropathy 9.3 PTGER4 PTGER3 PTGER1
56 hypertension, essential 9.2 SLC12A1 REN PTGS2 PTGS1 KCNJ1 GNAS

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



Diseases related to Antenatal Bartter Syndrome
Sources

Symptoms & Phenotypes for Antenatal Bartter Syndrome

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MGI Mouse Phenotypes related to Antenatal Bartter Syndrome:

45 (showing 9, show less)
# 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
Sources

Drugs & Therapeutics for Antenatal Bartter Syndrome

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Search Clinical Trials , NIH Clinical Center for Antenatal Bartter Syndrome

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Genetic Tests for Antenatal Bartter Syndrome

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Genetic tests related to Antenatal Bartter Syndrome:

# Genetic test Affiliating Genes
1 Antenatal Bartter Syndrome 29
Sources

Anatomical Context for Antenatal Bartter Syndrome

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MalaCards organs/tissues related to Antenatal Bartter Syndrome:

40
Kidney, Monocytes
Sources

Publications for Antenatal Bartter Syndrome

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Articles related to Antenatal Bartter Syndrome:

(showing 94, show less)
# 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
51
[Differential diagnosis of a polyhydramnion in hyperprostaglandin E syndrome: a case report]. 61
15647987 2004
52
The role of cyclooxygenases and prostanoid receptorsin furosemide-like salt losing tubulopathy: the hyperprostaglandin E syndrome. 61
15283766 2004
53
Pharmacotyping of hypokalaemic salt-losing tubular disorders. 61
15283765 2004
54
[Prenatal Bartter's syndrome. Report of two cases]. 61
15067902 2003
55
The neonatal variant of Bartter syndrome and deafness: preservation of renal function. 61
12949294 2003
56
Successful management of an extreme example of neonatal hyperprostaglandin-E syndrome (Bartter's syndrome) with the new cyclooxygenase-2 inhibitor rofecoxib. 61
12749662 2003
57
Heterozygous mutations of the gene for Kir 1.1 (ROMK) in antenatal Bartter syndrome presenting with transient hyperkalemia, evolving to a benign course. 61
12589089 2003
58
Role of cyclooxygenase-2 in hyperprostaglandin E syndrome/antenatal Bartter syndrome. 61
12081585 2002
59
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. 61
11687798 2001
60
[Neonatal Bartter disease diagnosed with the detection of a mutation of the KCNJ1 gene which codifies the synthesis of the renal ROMK1 potassium channel]. 61
11795013 2001
61
Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness. 61
11433084 2001
62
How can one apply rescue indomethacin therapy to a 1-month-old baby with antenatal Bartter syndrome in the case of severe vomiting? 61
11420924 2001
63
Gating of inward-rectifier K+ channels by intracellular pH. 61
10998042 2000
64
Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome. 61
10906158 2000
65
Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31. 61
10862633 2000
66
Determination of free and glucuronide conjugated 20-hydroxyarachidonic acid (20-HETE) in urine by gas chromatography/negative ion chemical ionization mass spectrometry. 61
10841040 2000
67
[Bartter's syndromes]. 61
10617800 1999
68
pH gating of ROMK (K(ir)1.1) channels: control by an Arg-Lys-Arg triad disrupted in antenatal Bartter syndrome. 61
10611379 1999
69
Prenatal and postnatal management of hyperprostaglandin E syndrome after genetic diagnosis from amniocytes. 61
10049979 1999
70
Large deletion of the 5' end of the ROMK1 gene causes antenatal Bartter syndrome. 61
9848791 1998
71
Pregnant woman with transient diabetes insipidus resistant to 1-desamino-8-D-arginine vasopressin. 61
10395251 1998
72
Bartter syndrome: unraveling the pathophysiologic enigma. 61
9727823 1998
73
Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome. 61
9585600 1998
74
The hyperprostaglandin E syndrome: a hypercalciuric variant of Bartter's syndrome. 61
9333138 1997
75
Prostanoid biosynthesis by blood monocytes of children with hyperprostaglandin E syndrome. 61
9262230 1997
76
Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K+ channel function. 61
9015377 1997
77
Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes. 61
9002665 1997
78
Impaired response to furosemide in hyperprostaglandin E syndrome: evidence for a tubular defect in the loop of Henle. 61
8859258 1996
79
Gitelman's syndrome is genetically distinct from other forms of Bartter's syndrome. 61
8897553 1996
80
[Hyperprostaglandin E syndrome]. 61
8830610 1996
81
Severe hyperchloriduria-hyperkaliuria: a new congenital renal tubular abnormality? 61
8774509 1996
82
Severe hyperprostaglandin E syndrome with hyperthyroidism--studies of pathogenetic mechanisms. 61
8892027 1996
83
Pre-pubertal growth in the hyperprostaglandin E syndrome. 61
8747113 1995
84
Treatment of hyperprostaglandin E syndrome with indomethacin. 61
8345440 1993
85
Marked reduction of Tamm-Horsfall protein synthesis in hyperprostaglandin E-syndrome. 61
8377383 1993
86
Calcium kinetics in the hyperprostaglandin E syndrome. 61
8433868 1993
87
Calcium homeostasis and hypercalciuria in hyperprostaglandin E syndrome. 61
1340758 1992
88
The role of prostanoids in pediatric diseases employing mass spectrometric techniques. 61
1449829 1992
89
Prostanoids in paediatric kidney diseases. 61
1911154 1991
90
[Hyperprostaglandin E syndrome in a nine-year-old child]. 61
2304767 1990
91
The juxtaglomerular apparatus in Bartter's syndrome and related tubulopathies. An immunocytochemical and electron microscopic study. 61
3128915 1988
92
[Clinical variants of idiopathic hypercalciuria in children]. 61
3325840 1987
93
Role of prostaglandins in hyperprostaglandin E syndrome and in selected renal tubular disorders. 61
3153322 1987
94
[The significance of renal prostaglandins for kidney function in early childhood]. 61
3600669 1987
Sources

Variations for Antenatal Bartter Syndrome

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ClinVar genetic disease variations for Antenatal Bartter Syndrome:

6 (showing 10, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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
Sources

Expression for Antenatal Bartter Syndrome

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

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

(showing 18, show less)
# Super pathways Score Top Affiliating Genes
1
DAG and IP3 signaling 65
Show member pathways
 12.82 PTGS2 PTGS1 PTGER4 PTGER3 GNAS
2
Human cytomegalovirus infection 36
Show member pathways
 12.65 PTGS2 PTGER4 PTGER3 PTGER1 GNAS
3
Pathways in cancer 36
12.53 PTGS2 PTGER4 PTGER3 PTGER1 GNAS
4
Calcium signaling pathway 36
Show member pathways
 12.05 PTGER3 PTGER1 GNAS
5
Colorectal Cancer Metastasis 63
11.95 PTGS2 PTGER4 GNAS
6
Serotonergic synapse 36
11.71 PTGS2 PTGS1 GNAS
7
Renin secretion 36
11.45 REN PTGER4 GNAS
8
Celecoxib Pathway, Pharmacodynamics 60
11.32 PTGS2 PTGS1 PTGER4 PTGER3 PTGER1
9
Regulation of lipolysis in adipocytes 36
11.31 PTGS2 PTGS1 PTGER3 GNAS
10
Eicosanoid ligand-binding receptors 65
Show member pathways
 11.23 PTGER4 PTGER3 PTGER1
11
HETE and HPETE biosynthesis and metabolism 22
Show member pathways
 11 PTGS2 PTGS1
12
Diuretics Pathway, Pharmacodynamics 60
10.96 SLC12A1 KCNJ1 BSND
13
Eicosanoid Synthesis 1
10.93 PTGS2 PTGS1
14
Prostaglandin 2 biosynthesis and metabolism FM 22
10.9 PTGS2 PTGS1
15
Prostaglandin Synthesis and Regulation 1
10.83 PTGS2 PTGS1 PTGER4 PTGER3 PTGER1
16
Overview of nanoparticle effects 1
10.8 PTGS2 PTGS1
17
Etoposide Pathway, Pharmacokinetics/Pharmacodynamics 60
10.67 PTGS2 PTGS1
18
Ibuprofen Pathway, Pharmacodynamics 60
10.47 PTGS2 PTGS1 PTGER4 PTGER3 PTGER1
Sources

GO Terms for Antenatal Bartter Syndrome

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

(showing 1, show less)
# 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:

(showing 11, show less)
# 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:

(showing 5, show less)
# 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

Sources for Antenatal Bartter Syndrome

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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