BARTS2
MCID: BRT050
MIFTS: 46

Bartter Syndrome, Type 2, Antenatal (BARTS2)

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

Aliases & Classifications for Bartter Syndrome, Type 2, Antenatal

MalaCards integrated aliases for Bartter Syndrome, Type 2, Antenatal:

Name: Bartter Syndrome, Type 2, Antenatal 57 29 6
Hyperprostaglandin E Syndrome 2 57 12 20
Barts2 57 12 72
Hypokalemic Alkalosis with Hypercalciuria Antenatal 2 20 72
Bartter Syndrome, Type 2 57 13
Bartter Disease Type 2 12 15
Hypokalemic Alkalosis with Hypercalciuria 2, Antenatal 57
Hypokalemic Alkalosis with Hypercalciuria 2 Antenatal 12
Antley-Bixler Syndrome, Autosomal Dominant 70
Bartter Syndrome, Antenatal , Type 2 70
Bartter Syndrome Type 2 Antenatal 12
Bartter Syndrome Antenatal Type 2 20
Hyperprostanglandin E Syndrome 2 72
Bartter Syndrome 2, Antenatal 72
Antenatal Bartter Syndrome 2 72
Syndrome, Bartter, Type 2 39
Bartter Syndrome Type 2 12
Bartter Syndrome 2 72
Abs2 72
Bs2 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity (see antenatal bartter syndrome type 1, )


HPO:

31
bartter syndrome, type 2, antenatal:
Inheritance autosomal recessive inheritance heterogeneous


Classifications:



Summaries for Bartter Syndrome, Type 2, Antenatal

OMIM® : 57 Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997). Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, 607364) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). For a discussion of genetic heterogeneity of Bartter syndrome, see 607364. (241200) (Updated 05-Apr-2021)

MalaCards based summary : Bartter Syndrome, Type 2, Antenatal, also known as hyperprostaglandin e syndrome 2, is related to hypokalemia and nephrocalcinosis, and has symptoms including seizures, constipation and polydipsia. An important gene associated with Bartter Syndrome, Type 2, Antenatal is KCNJ1 (Potassium Inwardly Rectifying Channel Subfamily J Member 1), and among its related pathways/superpathways are G-Beta Gamma Signaling and Neuropathic Pain-Signaling in Dorsal Horn Neurons. Related phenotypes are hypomagnesemia and macrocephaly

Disease Ontology : 12 A Bartter disease that has material basis in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24.

UniProtKB/Swiss-Prot : 72 Bartter syndrome 2, antenatal: A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS2 is a life- threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia.

Related Diseases for Bartter Syndrome, Type 2, Antenatal

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 Bartter Syndrome, Type 2, Antenatal via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 hypokalemia 30.0 SLC12A1 KCNJ1 CASR
2 nephrocalcinosis 30.0 SLC12A1 KCNJ1 CASR
3 nephrolithiasis 29.9 SLC12A1 KCNJ1 CASR
4 bartter disease 29.2 SLC12A1 SCNN1G SCNN1B SCNN1A KCNJ1 CASR
5 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 11.2
6 biemond syndrome ii 11.0
7 hypomagnesemia 5, renal, with or without ocular involvement 10.2 SLC12A1 KCNJ1
8 antenatal bartter syndrome 10.1 SLC12A1 KCNJ1
9 hypercalciuria, absorptive, 2 10.1 KCNJ1 CASR
10 primary hypomagnesemia 10.1 SLC12A1 KCNJ1
11 seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance 10.1 SLC12A1 KCNJ1
12 arthrogryposis, distal, type 3 10.0 SLC12A1 KCNJ1
13 bartter syndrome, type 1, antenatal 10.0 SLC12A1 KCNJ1 CASR
14 bartter syndrome, type 3 10.0 SLC12A1 KCNJ1 CASR
15 hypophosphatemia 10.0
16 hyperphosphatemia 10.0
17 polyhydramnios 10.0
18 diabetes insipidus 10.0
19 gitelman syndrome 10.0 SLC12A1 KCNJ1 CASR
20 dent disease 1 10.0 SLC12A1 KCNJ1 CASR
21 mineral metabolism disease 10.0 SLC12A1 KCNJ1 CASR
22 diabetes insipidus, nephrogenic, autosomal 10.0 SLC12A1 KCNJ1 CASR
23 pseudohyperkalemia, familial, 2, due to red cell leak 10.0 SCNN1G KCNJ1
24 chondrodysplasia punctata syndrome 9.9
25 rhizomelic chondrodysplasia punctata, type 3 9.9
26 rhizomelic chondrodysplasia punctata 9.9
27 anthrax disease 9.9
28 cataract 9.9
29 miliaria rubra 9.8 SCNN1G SCNN1B SCNN1A
30 miliaria 9.8 SCNN1G SCNN1B SCNN1A
31 pseudohypoaldosteronism, type i, autosomal dominant 9.8 SCNN1G SCNN1B SCNN1A
32 nephrolithiasis, calcium oxalate 9.8 SLC12A1 CASR
33 idiopathic bronchiectasis 9.8 SCNN1G SCNN1B SCNN1A
34 bronchiectasis 9.8 SCNN1G SCNN1B SCNN1A
35 metabolic acidosis 9.8 SCNN1G SCNN1B SCNN1A
36 pseudohypoaldosteronism, type i, autosomal recessive 9.7 SCNN1G SCNN1B SCNN1A KCNJ1
37 liddle syndrome 1 9.5 SLC12A1 SCNN1G SCNN1B SCNN1A KCNJ1
38 pseudohypoaldosteronism 9.5 SLC12A1 SCNN1G SCNN1B SCNN1A KCNJ1
39 cystic fibrosis 9.4 SCNN1G SCNN1B SCNN1A KCNJ1
40 renal tubular transport disease 9.3 SLC12A1 SCNN1G SCNN1B SCNN1A KCNJ1 CASR
41 hypertension, essential 9.1 SLC12A1 SCNN1G SCNN1B SCNN1A KCNJ1 GUCY1B1

Graphical network of the top 20 diseases related to Bartter Syndrome, Type 2, Antenatal:



Diseases related to Bartter Syndrome, Type 2, Antenatal

Symptoms & Phenotypes for Bartter Syndrome, Type 2, Antenatal

Human phenotypes related to Bartter Syndrome, Type 2, Antenatal:

31 (show all 47)
# Description HPO Frequency HPO Source Accession
1 hypomagnesemia 31 occasional (7.5%) HP:0002917
2 macrocephaly 31 HP:0000256
3 intellectual disability 31 HP:0001249
4 failure to thrive 31 HP:0001508
5 frontal bossing 31 HP:0002007
6 constipation 31 HP:0002019
7 osteopenia 31 HP:0000938
8 global developmental delay 31 HP:0001263
9 macrotia 31 HP:0000400
10 short stature 31 HP:0004322
11 dehydration 31 HP:0001944
12 polydipsia 31 HP:0001959
13 vomiting 31 HP:0002013
14 hypokalemia 31 HP:0002900
15 fever 31 HP:0001945
16 prominent forehead 31 HP:0011220
17 polyhydramnios 31 HP:0001561
18 nephrocalcinosis 31 HP:0000121
19 hyperaldosteronism 31 HP:0000859
20 hypercalciuria 31 HP:0002150
21 paresthesia 31 HP:0003401
22 tetany 31 HP:0001281
23 triangular face 31 HP:0000325
24 premature birth 31 HP:0001622
25 chondrocalcinosis 31 HP:0000934
26 generalized muscle weakness 31 HP:0003324
27 diarrhea 31 HP:0002014
28 small for gestational age 31 HP:0001518
29 fetal polyuria 31 HP:0001563
30 hypokalemic metabolic alkalosis 31 HP:0001960
31 muscle spasm 31 HP:0003394
32 renal salt wasting 31 HP:0000127
33 increased circulating renin level 31 HP:0000848
34 hyperprostaglandinuria 31 HP:0003527
35 abnormally large globe 31 HP:0001090
36 hyposthenuria 31 HP:0003158
37 increased urinary potassium 31 HP:0003081
38 low-to-normal blood pressure 31 HP:0002632
39 renal potassium wasting 31 HP:0000128
40 impaired platelet aggregation 31 HP:0003540
41 hyperactive renin-angiotensin system 31 HP:0000841
42 hypochloremia 31 HP:0003113
43 polyuria 31 HP:0000103
44 seizure 31 HP:0001250
45 increased serum prostaglandin e2 31 HP:0003566
46 renal juxtaglomerular cell hypertrophy/hyperplasia 31 HP:0000111
47 hyperchloriduria 31 HP:0002914

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
developmental delay
mental retardation
paresthesias

Abdomen Gastrointestinal:
constipation
vomiting
diarrhea

Growth Height:
short stature

Laboratory Abnormalities:
hypokalemia
hypercalciuria
hyperprostaglandinuria
hyposthenuria
increased urinary potassium
more
Prenatal Manifestations Amniotic Fluid:
polyhydramnios
fetal polyuria
elevated chloride levels

Muscle Soft Tissue:
tetany
muscle cramps
generalized weakness

Endocrine Features:
hyperactive renin-angiotensin system
elevated plasma renin
elevated plasma aldosterone

Growth Weight:
low birth weight

Head And Neck Ears:
large pinnae

Hematology:
platelet aggregation defect

Growth Other:
failure to thrive

Skeletal:
osteopenia
chondrocalcinosis

Metabolic Features:
dehydration
polydipsia
fever
hypokalemic metabolic alkalosis

Head And Neck Face:
prominent forehead
triangular face

Genitourinary Kidneys:
nephrocalcinosis
renal salt wasting
renal potassium wasting
polyuria
renal juxtaglomerular cell hypertrophy/hyperplasia

Cardiovascular Vascular:
low-to-normal blood pressure

Prenatal Manifestations Delivery:
premature delivery

Head And Neck Head:
large head

Head And Neck Eyes:
large eyes

Clinical features from OMIM®:

241200 (Updated 05-Apr-2021)

UMLS symptoms related to Bartter Syndrome, Type 2, Antenatal:


seizures; constipation; polydipsia; vomiting; fever; diarrhea; muscle cramp; polyuria; weakness

MGI Mouse Phenotypes related to Bartter Syndrome, Type 2, Antenatal:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.56 CABCOCO1 CASR GUCY1B1 KCNJ1 SCNN1A SCNN1B
2 digestive/alimentary MP:0005381 9.55 CASR GUCY1B1 SCNN1A SCNN1B SCNN1G
3 renal/urinary system MP:0005367 9.1 CASR KCNJ1 SCNN1A SCNN1B SCNN1G SLC12A1

Drugs & Therapeutics for Bartter Syndrome, Type 2, Antenatal

Search Clinical Trials , NIH Clinical Center for Bartter Syndrome, Type 2, Antenatal

Genetic Tests for Bartter Syndrome, Type 2, Antenatal

Genetic tests related to Bartter Syndrome, Type 2, Antenatal:

# Genetic test Affiliating Genes
1 Bartter Syndrome, Type 2, Antenatal 29 KCNJ1

Anatomical Context for Bartter Syndrome, Type 2, Antenatal

Publications for Bartter Syndrome, Type 2, Antenatal

Articles related to Bartter Syndrome, Type 2, Antenatal:

(show all 27)
# Title Authors PMID Year
1
Functional heterogeneity of ROMK mutations linked to hyperprostaglandin E syndrome. 6 57
11318951 2001
2
Prenatal and postnatal management of hyperprostaglandin E syndrome after genetic diagnosis from amniocytes. 57 6
10049979 1999
3
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. 6 57
9002665 1997
4
Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. 6 57
8841184 1996
5
Transient hyponatremia of prematurity caused by mild Bartter syndrome type II: a case report. 6
32590952 2020
6
Understanding Bartter syndrome and Gitelman syndrome. 57
22282380 2012
7
Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome. 6
19096086 2009
8
Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome. 57
12640382 2003
9
Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies. 57
12086641 2002
10
Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies. 57
11893344 2002
11
New treatment options for Bartter's syndrome. 57
10979805 2000
12
Biochemical examination of mother's urine is useful for prenatal diagnosis of Bartter syndrome. 57
10419618 1999
13
A hyperprostaglandin E syndrome mutation in Kir1.1 (renal outer medullary potassium) channels reveals a crucial residue for channel function in Kir1.3 channels. 6
9727001 1998
14
Functional consequences of ROMK mutants linked to antenatal Bartter's syndrome and implications for treatment. 6
9580661 1998
15
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. 57
9326936 1997
16
Mutations in the ROMK gene in antenatal Bartter syndrome are associated with impaired K+ channel function. 6
9015377 1997
17
Impaired response to furosemide in hyperprostaglandin E syndrome: evidence for a tubular defect in the loop of Henle. 57
8859258 1996
18
Severe hyperprostaglandin E syndrome with hyperthyroidism--studies of pathogenetic mechanisms. 57
8892027 1996
19
[Antenatal form of Bartter's syndrome]. 57
8457138 1993
20
Role of prostaglandins in hyperprostaglandin E syndrome and in selected renal tubular disorders. 57
3153322 1987
21
Congenital hypokalemia with hypercalciuria in preterm infants: a hyperprostaglandinuric tubular syndrome different from Bartter syndrome. 57
3863906 1985
22
Bartter syndrome in two siblings--antenatal and neonatal observations. 57
3888887 1985
23
A variant of Bartter's syndrome. Bartter's syndrome associated with hydramnios, prematurity, hypercalciuria and nephrocalcinosis. 57
6395627 1984
24
Eight novel KCNJ1 variants and parathyroid hormone overaction or resistance in 5 probands with Bartter syndrome type 2. 61
33058840 2020
25
The Urinary Excretion of Uromodulin is Regulated by the Potassium Channel ROMK. 61
31863061 2019
26
[Gene analysis in a family with adult onset Bartter syndrome type 2]. 61
28870038 2017
27
Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population. 61
18443236 2008

Variations for Bartter Syndrome, Type 2, Antenatal

ClinVar genetic disease variations for Bartter Syndrome, Type 2, Antenatal:

6 (show top 50) (show all 60)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNJ1 NM_000220.5(KCNJ1):c.237C>G (p.Tyr79Ter) SNV Pathogenic 9153 rs104894244 GRCh37: 11:128709959-128709959
GRCh38: 11:128840064-128840064
2 KCNJ1 KCNJ1, 1-BP INS, CODON 15 Insertion Pathogenic 9154 GRCh37:
GRCh38:
3 KCNJ1 NM_000220.5(KCNJ1):c.657C>G (p.Ser219Arg) SNV Pathogenic 9155 rs104894245 GRCh37: 11:128709539-128709539
GRCh38: 11:128839644-128839644
4 KCNJ1 KCNJ1, TRP58TER Variation Pathogenic 9156 GRCh37:
GRCh38:
5 KCNJ1 NM_000220.5(KCNJ1):c.641C>T (p.Ala214Val) SNV Pathogenic 9157 rs104894246 GRCh37: 11:128709555-128709555
GRCh38: 11:128839660-128839660
6 KCNJ1 NM_000220.5(KCNJ1):c.1070T>C (p.Met357Thr) SNV Pathogenic 9158 rs59172778 GRCh37: 11:128709126-128709126
GRCh38: 11:128839231-128839231
7 KCNJ1 NM_000220.5(KCNJ1):c.592G>A (p.Ala198Thr) SNV Pathogenic 9159 rs104894253 GRCh37: 11:128709604-128709604
GRCh38: 11:128839709-128839709
8 KCNJ1 NM_000220.5(KCNJ1):c.500G>A (p.Gly167Glu) SNV Pathogenic 9160 rs104894254 GRCh37: 11:128709696-128709696
GRCh38: 11:128839801-128839801
9 KCNJ1 NM_000220.5(KCNJ1):c.322G>C (p.Asp108His) SNV Pathogenic 9161 rs104894250 GRCh37: 11:128709874-128709874
GRCh38: 11:128839979-128839979
10 KCNJ1 NM_000220.5(KCNJ1):c.372T>A (p.Asn124Lys) SNV Pathogenic 9162 rs104894251 GRCh37: 11:128709824-128709824
GRCh38: 11:128839929-128839929
11 KCNJ1 NM_153767.3(KCNJ1):c.262A>T (p.Lys88Ter) SNV Pathogenic 373897 rs185212943 GRCh37: 11:128709877-128709877
GRCh38: 11:128839982-128839982
12 KCNJ1 NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe) SNV Pathogenic 872043 GRCh37: 11:128709538-128709538
GRCh38: 11:128839643-128839643
13 KCNJ1 NM_000220.5(KCNJ1):c.924C>A (p.Cys308Ter) SNV Pathogenic 586076 rs746509804 GRCh37: 11:128709272-128709272
GRCh38: 11:128839377-128839377
14 KCNJ1 NM_153766.3(KCNJ1):c.1027del (p.Glu343fs) Deletion Pathogenic 1029722 GRCh37: 11:128709112-128709112
GRCh38: 11:128839217-128839217
15 KCNJ1 NM_000220.5(KCNJ1):c.1012C>T (p.Arg338Ter) SNV Likely pathogenic 523794 rs377205432 GRCh37: 11:128709184-128709184
GRCh38: 11:128839289-128839289
16 KCNJ1 NM_153766.3(KCNJ1):c.272C>T (p.Pro91Leu) SNV Likely pathogenic 981532 GRCh37: 11:128709867-128709867
GRCh38: 11:128839972-128839972
17 KCNJ1 NM_000220.5(KCNJ1):c.561del (p.Lys187fs) Deletion Likely pathogenic 694393 rs769554073 GRCh37: 11:128709635-128709635
GRCh38: 11:128839740-128839740
18 KCNJ1 NM_153766.3(KCNJ1):c.551G>A (p.Arg184Gln) SNV Likely pathogenic 870374 GRCh37: 11:128709588-128709588
GRCh38: 11:128839693-128839693
19 KCNJ1 NM_153766.3(KCNJ1):c.602T>G (p.Leu201Arg) SNV Likely pathogenic 870375 GRCh37: 11:128709537-128709537
GRCh38: 11:128839642-128839642
20 KCNJ1 NM_000220.5(KCNJ1):c.634C>T (p.Arg212Ter) SNV Conflicting interpretations of pathogenicity 303573 rs201707868 GRCh37: 11:128709562-128709562
GRCh38: 11:128839667-128839667
21 KCNJ1 NM_000220.5(KCNJ1):c.894T>C (p.Asp298=) SNV Uncertain significance 303570 rs147861417 GRCh37: 11:128709302-128709302
GRCh38: 11:128839407-128839407
22 KCNJ1 NM_000220.5(KCNJ1):c.*382G>A SNV Uncertain significance 303563 rs528451227 GRCh37: 11:128708638-128708638
GRCh38: 11:128838743-128838743
23 KCNJ1 NM_153766.3(KCNJ1):c.156G>C (p.Thr52=) SNV Uncertain significance 879977 GRCh37: 11:128709983-128709983
GRCh38: 11:128840088-128840088
24 KCNJ1 NM_153766.3(KCNJ1):c.87G>A (p.Arg29=) SNV Uncertain significance 879978 GRCh37: 11:128710052-128710052
GRCh38: 11:128840157-128840157
25 KCNJ1 NM_153766.3(KCNJ1):c.842C>G (p.Thr281Arg) SNV Uncertain significance 988597 GRCh37: 11:128709297-128709297
GRCh38: 11:128839402-128839402
26 KCNJ1 NM_153767.3(KCNJ1):c.505C>T (p.Arg169Cys) SNV Uncertain significance 225398 rs138120505 GRCh37: 11:128709634-128709634
GRCh38: 11:128839739-128839739
27 KCNJ1 NM_000220.5(KCNJ1):c.683G>A (p.Gly228Glu) SNV Uncertain significance 631654 rs761781140 GRCh37: 11:128709513-128709513
GRCh38: 11:128839618-128839618
28 KCNJ1 NM_000220.5(KCNJ1):c.212C>T (p.Thr71Met) SNV Uncertain significance 631655 rs373367600 GRCh37: 11:128709984-128709984
GRCh38: 11:128840089-128840089
29 KCNJ1 NM_153766.3(KCNJ1):c.*737T>C SNV Uncertain significance 879569 GRCh37: 11:128708283-128708283
GRCh38: 11:128838388-128838388
30 KCNJ1 NM_153766.3(KCNJ1):c.798C>A (p.Thr266=) SNV Uncertain significance 735417 rs139777470 GRCh37: 11:128709341-128709341
GRCh38: 11:128839446-128839446
31 KCNJ1 NM_153766.3(KCNJ1):c.706G>A (p.Ala236Thr) SNV Uncertain significance 879617 GRCh37: 11:128709433-128709433
GRCh38: 11:128839538-128839538
32 KCNJ1 NM_000220.5(KCNJ1):c.762C>T (p.Asp254=) SNV Uncertain significance 447632 rs142030262 GRCh37: 11:128709434-128709434
GRCh38: 11:128839539-128839539
33 KCNJ1 NM_153766.3(KCNJ1):c.*83G>A SNV Uncertain significance 877123 GRCh37: 11:128708937-128708937
GRCh38: 11:128839042-128839042
34 KCNJ1 NM_153766.3(KCNJ1):c.27C>T (p.Val9=) SNV Uncertain significance 877184 GRCh37: 11:128710112-128710112
GRCh38: 11:128840217-128840217
35 KCNJ1 NM_000220.5(KCNJ1):c.33G>A (p.Thr11=) SNV Uncertain significance 447631 rs147611594 GRCh37: 11:128712280-128712280
GRCh38: 11:128842385-128842385
36 KCNJ1 NM_153766.3(KCNJ1):c.-21-2138C>T SNV Uncertain significance 834322 GRCh37: 11:128712297-128712297
GRCh38: 11:128842402-128842402
37 KCNJ1 NM_153766.3(KCNJ1):c.946G>A (p.Gly316Arg) SNV Uncertain significance 878155 GRCh37: 11:128709193-128709193
GRCh38: 11:128839298-128839298
38 KCNJ1 NM_153766.3(KCNJ1):c.842C>T (p.Thr281Ile) SNV Uncertain significance 878156 GRCh37: 11:128709297-128709297
GRCh38: 11:128839402-128839402
39 KCNJ1 NM_153766.3(KCNJ1):c.798C>T (p.Thr266=) SNV Uncertain significance 878157 GRCh37: 11:128709341-128709341
GRCh38: 11:128839446-128839446
40 KCNJ1 NM_153766.3(KCNJ1):c.*968T>A SNV Uncertain significance 879566 GRCh37: 11:128708052-128708052
GRCh38: 11:128838157-128838157
41 KCNJ1 NM_153766.3(KCNJ1):c.*864G>T SNV Uncertain significance 879567 GRCh37: 11:128708156-128708156
GRCh38: 11:128838261-128838261
42 KCNJ1 NM_000220.5(KCNJ1):c.-14T>C SNV Uncertain significance 303578 rs200666281 GRCh37: 11:128712326-128712326
GRCh38: 11:128842431-128842431
43 KCNJ1 NM_000220.5(KCNJ1):c.789C>T (p.Ile263=) SNV Uncertain significance 303572 rs886047985 GRCh37: 11:128709407-128709407
GRCh38: 11:128839512-128839512
44 KCNJ1 NM_000220.5(KCNJ1):c.980C>T (p.Pro327Leu) SNV Uncertain significance 303569 rs746292586 GRCh37: 11:128709216-128709216
GRCh38: 11:128839321-128839321
45 KCNJ1 NM_000220.5(KCNJ1):c.92G>A (p.Arg31His) SNV Uncertain significance 303576 rs566704910 GRCh37: 11:128710104-128710104
GRCh38: 11:128840209-128840209
46 KCNJ1 NM_000220.5(KCNJ1):c.319A>G (p.Lys107Glu) SNV Uncertain significance 64392 rs185212943 GRCh37: 11:128709877-128709877
GRCh38: 11:128839982-128839982
47 KCNJ1 NM_000220.5(KCNJ1):c.*964A>G SNV Uncertain significance 303555 rs535158112 GRCh37: 11:128708056-128708056
GRCh38: 11:128838161-128838161
48 KCNJ1 NM_000220.5(KCNJ1):c.-44T>A SNV Uncertain significance 303579 rs369901110 GRCh37: 11:128712356-128712356
GRCh38: 11:128842461-128842461
49 KCNJ1 NM_000220.5(KCNJ1):c.*452G>A SNV Uncertain significance 303562 rs886047984 GRCh37: 11:128708568-128708568
GRCh38: 11:128838673-128838673
50 KCNJ1 NM_000220.5(KCNJ1):c.*553C>T SNV Uncertain significance 303559 rs529944463 GRCh37: 11:128708467-128708467
GRCh38: 11:128838572-128838572

UniProtKB/Swiss-Prot genetic disease variations for Bartter Syndrome, Type 2, Antenatal:

72 (show all 13)
# Symbol AA change Variation ID SNP ID
1 KCNJ1 p.Val72Glu VAR_001548
2 KCNJ1 p.Asp74Tyr VAR_001549
3 KCNJ1 p.Trp99Cys VAR_001550 rs121376465
4 KCNJ1 p.Asp108His VAR_001551 rs104894250
5 KCNJ1 p.Pro110Leu VAR_001552 rs373745258
6 KCNJ1 p.Val122Glu VAR_001553 rs766131330
7 KCNJ1 p.Gly167Glu VAR_001554 rs104894254
8 KCNJ1 p.Ala198Thr VAR_001555 rs104894253
9 KCNJ1 p.Val315Gly VAR_001556 rs753949204
10 KCNJ1 p.Asn124Lys VAR_019724 rs104894251
11 KCNJ1 p.Ala214Val VAR_019725 rs104894246
12 KCNJ1 p.Ser219Arg VAR_019726 rs104894245
13 KCNJ1 p.Met357Thr VAR_019727 rs59172778

Expression for Bartter Syndrome, Type 2, Antenatal

Search GEO for disease gene expression data for Bartter Syndrome, Type 2, Antenatal.

Pathways for Bartter Syndrome, Type 2, Antenatal

Pathways related to Bartter Syndrome, Type 2, Antenatal according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.58 SCNN1G SCNN1B SCNN1A GUCY1B1
2
Show member pathways
12.26 SLC12A1 SCNN1G SCNN1B SCNN1A
3
Show member pathways
12.1 SCNN1G SCNN1B SCNN1A
4
Show member pathways
11.66 SCNN1G SCNN1B SCNN1A CASR
5 11.04 SCNN1G SCNN1B SCNN1A
6 11.02 SCNN1G SCNN1B SCNN1A KCNJ1
7 10.48 SLC12A1 SCNN1G SCNN1B SCNN1A KCNJ1
8 10.37 SCNN1G SCNN1B SCNN1A GUCY1B1

GO Terms for Bartter Syndrome, Type 2, Antenatal

Cellular components related to Bartter Syndrome, Type 2, Antenatal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.35 SLC12A1 SCNN1G SCNN1B SCNN1A CASR
2 plasma membrane protein complex GO:0098797 9.16 SCNN1G SCNN1B
3 sodium channel complex GO:0034706 8.8 SCNN1G SCNN1B SCNN1A

Biological processes related to Bartter Syndrome, Type 2, Antenatal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.85 SLC12A1 SCNN1G SCNN1B SCNN1A KCNJ1
2 ion transmembrane transport GO:0034220 9.65 SLC12A1 SCNN1G SCNN1B SCNN1A KCNJ1
3 sodium ion transport GO:0006814 9.62 SLC12A1 SCNN1G SCNN1B SCNN1A
4 sensory perception of taste GO:0050909 9.58 SCNN1G SCNN1B SCNN1A
5 excretion GO:0007588 9.54 SCNN1G SCNN1B KCNJ1
6 potassium ion import across plasma membrane GO:1990573 9.48 SLC12A1 KCNJ1
7 sodium ion transmembrane transport GO:0035725 9.46 SLC12A1 SCNN1G SCNN1B SCNN1A
8 cellular response to aldosterone GO:1904045 9.43 SCNN1G SCNN1B
9 multicellular organismal water homeostasis GO:0050891 9.13 SCNN1G SCNN1B SCNN1A
10 sodium ion homeostasis GO:0055078 8.92 SLC12A1 SCNN1G SCNN1B SCNN1A

Molecular functions related to Bartter Syndrome, Type 2, Antenatal according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 WW domain binding GO:0050699 9.33 SCNN1G SCNN1B SCNN1A
2 sodium channel activity GO:0005272 9.13 SCNN1G SCNN1B SCNN1A
3 ligand-gated sodium channel activity GO:0015280 8.8 SCNN1G SCNN1B SCNN1A

Sources for Bartter Syndrome, Type 2, Antenatal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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