BARTS2
MCID: BRT050
MIFTS: 42

Bartter Syndrome, Type 2, Antenatal (BARTS2)

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

Aliases & Classifications for Bartter Syndrome, Type 2, Antenatal

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

Name: Bartter Syndrome, Type 2, Antenatal 58 30 6
Hyperprostaglandin E Syndrome 2 58 12 54
Bartter Syndrome, Type 2 58 13 41
Barts2 58 12 76
Hypokalemic Alkalosis with Hypercalciuria Antenatal 2 54 76
Bartter Disease Type 2 12 15
Hypokalemic Alkalosis with Hypercalciuria 2, Antenatal 58
Hypokalemic Alkalosis with Hypercalciuria 2 Antenatal 12
Antley-Bixler Syndrome, Autosomal Dominant 74
Bartter Syndrome, Antenatal , Type 2 74
Bartter Syndrome Type 2 Antenatal 12
Bartter Syndrome Antenatal Type 2 54
Hyperprostanglandin E Syndrome 2 76
Bartter Syndrome 2, Antenatal 76
Antenatal Bartter Syndrome 2 76
Bartter Syndrome Type 2 12
Bartter Syndrome 2 76
Abs2 76
Bs2 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
bartter syndrome, type 2, antenatal:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Bartter Syndrome, Type 2, Antenatal

OMIM : 58 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)

MalaCards based summary : Bartter Syndrome, Type 2, Antenatal, also known as hyperprostaglandin e syndrome 2, is related to antley-bixler syndrome without genital anomalies or disordered steroidogenesis and biemond syndrome ii, and has symptoms including seizures, constipation and fever. An important gene associated with Bartter Syndrome, Type 2, Antenatal is KCNJ1 (Potassium Voltage-Gated Channel Subfamily J Member 1), and among its related pathways/superpathways are Taste transduction and CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF). Affiliated tissues include eye, and 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 : 76 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

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:

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

Symptoms via clinical synopsis from OMIM:

58
Skeletal:
osteopenia
chondrocalcinosis

Growth Other:
failure to thrive

Growth Height:
short stature

Laboratory Abnormalities:
hypokalemia
hypercalciuria
hyposthenuria
increased urinary potassium
hyperprostaglandinuria
more
Muscle Soft Tissue:
muscle cramps
tetany
generalized weakness

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

Prenatal Manifestations Delivery:
premature delivery

Head And Neck Head:
large head

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

Hematology:
platelet aggregation defect

Neurologic Central Nervous System:
seizures
developmental delay
mental retardation
paresthesias

Abdomen Gastrointestinal:
constipation
vomiting
diarrhea

Metabolic Features:
dehydration
fever
polydipsia
hypokalemic metabolic alkalosis

Head And Neck Face:
prominent forehead
triangular face

Prenatal Manifestations Amniotic Fluid:
polyhydramnios
fetal polyuria
elevated chloride levels

Head And Neck Eyes:
large eyes

Growth Weight:
low birth weight

Head And Neck Ears:
large pinnae

Cardiovascular Vascular:
low-to-normal blood pressure

Clinical features from OMIM:

241200

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


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

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.72 CASR KCNJ1 NR3C2 SCNN1B SCNN1G
2 homeostasis/metabolism MP:0005376 9.65 CASR KCNJ1 NR3C2 SCNN1B SCNN1G
3 mortality/aging MP:0010768 9.35 CASR KCNJ1 NR3C2 SCNN1B SCNN1G
4 integument MP:0010771 9.33 CASR KCNJ1 SCNN1G
5 renal/urinary system MP:0005367 9.02 CASR KCNJ1 NR3C2 SCNN1B SCNN1G

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 30 KCNJ1

Anatomical Context for Bartter Syndrome, Type 2, Antenatal

MalaCards organs/tissues related to Bartter Syndrome, Type 2, Antenatal:

42
Eye

Publications for Bartter Syndrome, Type 2, Antenatal

Variations for Bartter Syndrome, Type 2, Antenatal

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

76 (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

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

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNJ1 NM_153767.3(KCNJ1): c.180C> G (p.Tyr60Ter) single nucleotide variant Pathogenic rs104894244 GRCh37 Chromosome 11, 128709959: 128709959
2 KCNJ1 NM_153767.3(KCNJ1): c.180C> G (p.Tyr60Ter) single nucleotide variant Pathogenic rs104894244 GRCh38 Chromosome 11, 128840064: 128840064
3 KCNJ1 KCNJ1, 1-BP INS, CODON 15 insertion Pathogenic
4 KCNJ1 NM_153767.3(KCNJ1): c.600C> G (p.Ser200Arg) single nucleotide variant Pathogenic rs104894245 GRCh37 Chromosome 11, 128709539: 128709539
5 KCNJ1 NM_153767.3(KCNJ1): c.600C> G (p.Ser200Arg) single nucleotide variant Pathogenic rs104894245 GRCh38 Chromosome 11, 128839644: 128839644
6 KCNJ1 KCNJ1, TRP58TER undetermined variant Pathogenic
7 KCNJ1 NM_153767.3(KCNJ1): c.584C> T (p.Ala195Val) single nucleotide variant Pathogenic rs104894246 GRCh37 Chromosome 11, 128709555: 128709555
8 KCNJ1 NM_153767.3(KCNJ1): c.584C> T (p.Ala195Val) single nucleotide variant Pathogenic rs104894246 GRCh38 Chromosome 11, 128839660: 128839660
9 KCNJ1 NM_153767.3(KCNJ1): c.1013T> C (p.Met338Thr) single nucleotide variant Benign rs59172778 GRCh37 Chromosome 11, 128709126: 128709126
10 KCNJ1 NM_153767.3(KCNJ1): c.1013T> C (p.Met338Thr) single nucleotide variant Benign rs59172778 GRCh38 Chromosome 11, 128839231: 128839231
11 KCNJ1 NM_153767.3(KCNJ1): c.535G> A (p.Ala179Thr) single nucleotide variant Pathogenic rs104894253 GRCh37 Chromosome 11, 128709604: 128709604
12 KCNJ1 NM_153767.3(KCNJ1): c.535G> A (p.Ala179Thr) single nucleotide variant Pathogenic rs104894253 GRCh38 Chromosome 11, 128839709: 128839709
13 KCNJ1 NM_153767.3(KCNJ1): c.443G> A (p.Gly148Glu) single nucleotide variant Pathogenic rs104894254 GRCh37 Chromosome 11, 128709696: 128709696
14 KCNJ1 NM_153767.3(KCNJ1): c.443G> A (p.Gly148Glu) single nucleotide variant Pathogenic rs104894254 GRCh38 Chromosome 11, 128839801: 128839801
15 KCNJ1 NM_153767.3(KCNJ1): c.265G> C (p.Asp89His) single nucleotide variant Pathogenic rs104894250 GRCh37 Chromosome 11, 128709874: 128709874
16 KCNJ1 NM_153767.3(KCNJ1): c.265G> C (p.Asp89His) single nucleotide variant Pathogenic rs104894250 GRCh38 Chromosome 11, 128839979: 128839979
17 KCNJ1 NM_153767.3(KCNJ1): c.315T> A (p.Asn105Lys) single nucleotide variant Pathogenic rs104894251 GRCh37 Chromosome 11, 128709824: 128709824
18 KCNJ1 NM_153767.3(KCNJ1): c.315T> A (p.Asn105Lys) single nucleotide variant Pathogenic rs104894251 GRCh38 Chromosome 11, 128839929: 128839929
19 KCNJ1 NM_000220.4(KCNJ1): c.562C> T (p.Arg188Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs138120505 GRCh38 Chromosome 11, 128839739: 128839739
20 KCNJ1 NM_000220.4(KCNJ1): c.562C> T (p.Arg188Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs138120505 GRCh37 Chromosome 11, 128709634: 128709634
21 KCNJ1 NM_153767.3(KCNJ1): c.262A> T (p.Lys88Ter) single nucleotide variant Pathogenic rs185212943 GRCh38 Chromosome 11, 128839982: 128839982
22 KCNJ1 NM_153767.3(KCNJ1): c.262A> T (p.Lys88Ter) single nucleotide variant Pathogenic rs185212943 GRCh37 Chromosome 11, 128709877: 128709877

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

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 9.13 CASR SCNN1B SCNN1G
2 sodium channel complex GO:0034706 8.62 SCNN1B SCNN1G

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 9.54 KCNJ1 SCNN1B SCNN1G
2 sodium ion transport GO:0006814 9.4 SCNN1B SCNN1G
3 sodium ion transmembrane transport GO:0035725 9.32 SCNN1B SCNN1G
4 sensory perception of taste GO:0050909 9.26 SCNN1B SCNN1G
5 sodium ion homeostasis GO:0055078 9.16 SCNN1B SCNN1G
6 multicellular organismal water homeostasis GO:0050891 8.96 SCNN1B SCNN1G
7 excretion GO:0007588 8.8 KCNJ1 SCNN1B SCNN1G

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 8.96 SCNN1B SCNN1G
2 ligand-gated sodium channel activity GO:0015280 8.62 SCNN1B SCNN1G

Sources for Bartter Syndrome, Type 2, Antenatal

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
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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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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