BARTS1
MCID: BRT052
MIFTS: 33

Bartter Syndrome, Type 1, Antenatal (BARTS1)

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

Aliases & Classifications for Bartter Syndrome, Type 1, Antenatal

MalaCards integrated aliases for Bartter Syndrome, Type 1, Antenatal:

Name: Bartter Syndrome, Type 1, Antenatal 57 29 6
Hyperprostaglandin E Syndrome 1 57 12 53 75
Bartter Syndrome, Type 1 57 13 40
Barts1 57 12 75
Hypokalemic Alkalosis with Hypercalciuria Antenatal 1 53 75
Bartter Disease Type 1 12 15
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis 73
Hypokalemic Alkalosis with Hypercalciuria 1, Antenatal 57
Hypokalemic Alkalosis with Hypercalciuria 1 Antenatal 12
Bartter Syndrome, Antenatal Type 1 73
Bartter Syndrome Type 1 Antenatal 12
Bartter Syndrome Antenatal Type 1 53
Antenatal Bartter Syndrome Type 1 53
Bartter Syndrome 1, Antenatal 75
Antenatal Bartter Syndrome 1 75
Bartter Syndrome Type 1 12
Abs1 75
Bs1 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
genetic heterogeneity (see antenatal bartter syndrome type 2, )


HPO:

32
bartter syndrome, type 1, antenatal:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Bartter Syndrome, Type 1, 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. (601678)

MalaCards based summary : Bartter Syndrome, Type 1, Antenatal, also known as hyperprostaglandin e syndrome 1, is related to bartter syndrome, type 3 and diabetes insipidus, nephrogenic, autosomal, and has symptoms including seizures, constipation and fever. An important gene associated with Bartter Syndrome, Type 1, Antenatal is SLC12A1 (Solute Carrier Family 12 Member 1). Related phenotypes are osteopenia and intellectual disability

Disease Ontology : 12 A Bartter disease that has material basis in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21.

UniProtKB/Swiss-Prot : 75 Bartter syndrome 1, 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. BARTS1 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 1, Antenatal

Graphical network of the top 20 diseases related to Bartter Syndrome, Type 1, Antenatal:



Diseases related to Bartter Syndrome, Type 1, Antenatal

Symptoms & Phenotypes for Bartter Syndrome, Type 1, Antenatal

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
osteopenia
chondrocalcinosis

Growth Other:
failure to thrive

Growth Height:
short stature

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

Prenatal Manifestations Delivery:
premature delivery

Cardiovascular Vascular:
low-to-normal blood pressure

Neurologic Central Nervous System:
seizures
developmental delay
mental retardation
paresthesias

Abdomen Gastrointestinal:
constipation
vomiting
diarrhea

Metabolic Features:
dehydration
fever
hypokalemic metabolic alkalosis

Muscle Soft Tissue:
muscle cramps
tetany
generalized weakness

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

Growth Weight:
low birth weight

Endocrine Features:
hyperactive renin-angiotensin system
increased plasma renin
increased plasma aldosterone
hyperparathyroidism (in some patients)


Clinical features from OMIM:

601678

Human phenotypes related to Bartter Syndrome, Type 1, Antenatal:

32 (show all 41)
# Description HPO Frequency HPO Source Accession
1 osteopenia 32 HP:0000938
2 intellectual disability 32 HP:0001249
3 seizures 32 HP:0001250
4 failure to thrive 32 HP:0001508
5 constipation 32 HP:0002019
6 global developmental delay 32 HP:0001263
7 short stature 32 HP:0004322
8 dehydration 32 HP:0001944
9 fever 32 HP:0001945
10 vomiting 32 HP:0002013
11 hypokalemia 32 HP:0002900
12 generalized muscle weakness 32 HP:0003324
13 hypercalciuria 32 HP:0002150
14 paresthesia 32 HP:0003401
15 muscle cramps 32 HP:0003394
16 tetany 32 HP:0001281
17 polyhydramnios 32 HP:0001561
18 nephrocalcinosis 32 HP:0000121
19 hyperparathyroidism 32 occasional (7.5%) HP:0000843
20 hyperaldosteronism 32 HP:0000859
21 hypercalcemia 32 HP:0003072
22 diarrhea 32 HP:0002014
23 chondrocalcinosis 32 HP:0000934
24 premature birth 32 HP:0001622
25 renal salt wasting 32 HP:0000127
26 increased circulating renin level 32 HP:0000848
27 small for gestational age 32 HP:0001518
28 hypomagnesemia 32 HP:0002917
29 fetal polyuria 32 HP:0001563
30 hyposthenuria 32 HP:0003158
31 increased urinary potassium 32 HP:0003081
32 hypokalemic metabolic alkalosis 32 HP:0001960
33 hyperprostaglandinuria 32 HP:0003527
34 polyuria 32 HP:0000103
35 hypochloremia 32 HP:0003113
36 low-to-normal blood pressure 32 HP:0002632
37 renal potassium wasting 32 HP:0000128
38 renal juxtaglomerular cell hypertrophy/hyperplasia 32 HP:0000111
39 hyperactive renin-angiotensin system 32 HP:0000841
40 increased serum prostaglandin e2 32 HP:0003566
41 hyperchloriduria 32 HP:0002914

UMLS symptoms related to Bartter Syndrome, Type 1, Antenatal:


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

Drugs & Therapeutics for Bartter Syndrome, Type 1, Antenatal

Search Clinical Trials , NIH Clinical Center for Bartter Syndrome, Type 1, Antenatal

Genetic Tests for Bartter Syndrome, Type 1, Antenatal

Genetic tests related to Bartter Syndrome, Type 1, Antenatal:

# Genetic test Affiliating Genes
1 Bartter Syndrome, Type 1, Antenatal 29 SLC12A1

Anatomical Context for Bartter Syndrome, Type 1, Antenatal

Publications for Bartter Syndrome, Type 1, Antenatal

Articles related to Bartter Syndrome, Type 1, Antenatal:

# Title Authors Year
1
Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus. ( 29527380 )
2018
2
Genetic heterogeneity in patients with Bartter syndrome type 1. ( 28000888 )
2017
3
Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1. ( 17998760 )
2007

Variations for Bartter Syndrome, Type 1, Antenatal

UniProtKB/Swiss-Prot genetic disease variations for Bartter Syndrome, Type 1, Antenatal:

75
# Symbol AA change Variation ID SNP ID
1 SLC12A1 p.Val272Phe VAR_010223 rs137853158
2 SLC12A1 p.Asp648Asn VAR_010224 rs137853157

ClinVar genetic disease variations for Bartter Syndrome, Type 1, Antenatal:

6 (show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC12A1 NM_000338.2(SLC12A1): c.1942G> A (p.Asp648Asn) single nucleotide variant Pathogenic rs137853157 GRCh37 Chromosome 15, 48543967: 48543967
2 SLC12A1 NM_000338.2(SLC12A1): c.1942G> A (p.Asp648Asn) single nucleotide variant Pathogenic rs137853157 GRCh38 Chromosome 15, 48251770: 48251770
3 SLC12A1 NM_000338.2(SLC12A1): c.814G> T (p.Val272Phe) single nucleotide variant Pathogenic rs137853158 GRCh37 Chromosome 15, 48521475: 48521475
4 SLC12A1 NM_000338.2(SLC12A1): c.814G> T (p.Val272Phe) single nucleotide variant Pathogenic rs137853158 GRCh38 Chromosome 15, 48229278: 48229278
5 SLC12A1 NM_000338.2(SLC12A1): c.1875G> A (p.Trp625Ter) single nucleotide variant Pathogenic rs137853159 GRCh37 Chromosome 15, 48543900: 48543900
6 SLC12A1 NM_000338.2(SLC12A1): c.1875G> A (p.Trp625Ter) single nucleotide variant Pathogenic rs137853159 GRCh38 Chromosome 15, 48251703: 48251703
7 SLC12A1 NM_000338.2(SLC12A1): c.724+4A> G single nucleotide variant Pathogenic rs774515747 GRCh37 Chromosome 15, 48518772: 48518772
8 SLC12A1 NM_000338.2(SLC12A1): c.724+4A> G single nucleotide variant Pathogenic rs774515747 GRCh38 Chromosome 15, 48226575: 48226575
9 SLC12A1 NM_000338.2(SLC12A1): c.2095delG (p.Asp699Thrfs) deletion Pathogenic rs1057519608 GRCh37 Chromosome 15, 48551449: 48551449
10 SLC12A1 NM_000338.2(SLC12A1): c.2095delG (p.Asp699Thrfs) deletion Pathogenic rs1057519608 GRCh38 Chromosome 15, 48259252: 48259252
11 SLC12A1 NM_000338.2(SLC12A1): c.2873T> C (p.Val958Ala) single nucleotide variant Benign/Likely benign rs1552311 GRCh37 Chromosome 15, 48580713: 48580713
12 SLC12A1 NM_000338.2(SLC12A1): c.2873T> C (p.Val958Ala) single nucleotide variant Benign/Likely benign rs1552311 GRCh38 Chromosome 15, 48288516: 48288516
13 SLC12A1 NM_000338.2(SLC12A1): c.843G> C (p.Glu281Asp) single nucleotide variant Likely pathogenic rs886039870 GRCh38 Chromosome 15, 48229307: 48229307
14 SLC12A1 NM_000338.2(SLC12A1): c.843G> C (p.Glu281Asp) single nucleotide variant Likely pathogenic rs886039870 GRCh37 Chromosome 15, 48521504: 48521504
15 SLC12A1 NM_000338.2(SLC12A1): c.1163delT (p.Phe388Serfs) deletion Pathogenic/Likely pathogenic rs886039884 GRCh38 Chromosome 15, 48234952: 48234952
16 SLC12A1 NM_000338.2(SLC12A1): c.1163delT (p.Phe388Serfs) deletion Pathogenic/Likely pathogenic rs886039884 GRCh37 Chromosome 15, 48527149: 48527149
17 SLC12A1 NM_000338.2(SLC12A1): c.1137delC (p.Phe380Serfs) deletion Pathogenic rs1057520300 GRCh38 Chromosome 15, 48234926: 48234926
18 SLC12A1 NM_000338.2(SLC12A1): c.1137delC (p.Phe380Serfs) deletion Pathogenic rs1057520300 GRCh37 Chromosome 15, 48527123: 48527123
19 SLC12A1 NM_000338.2(SLC12A1): c.1883C> A (p.Ala628Asp) single nucleotide variant Pathogenic rs1057520301 GRCh38 Chromosome 15, 48251711: 48251711
20 SLC12A1 NM_000338.2(SLC12A1): c.1883C> A (p.Ala628Asp) single nucleotide variant Pathogenic rs1057520301 GRCh37 Chromosome 15, 48543908: 48543908
21 SLC12A1 NM_000338.2(SLC12A1): c.2787dupC (p.Thr931Asnfs) duplication Pathogenic rs1057520302 GRCh38 Chromosome 15, 48288430: 48288430
22 SLC12A1 NM_000338.2(SLC12A1): c.2787dupC (p.Thr931Asnfs) duplication Pathogenic rs1057520302 GRCh37 Chromosome 15, 48580627: 48580627
23 SLC12A1 NM_000338.2(SLC12A1): c.2498_2499delGA (p.Arg833Ilefs) deletion Pathogenic rs1057520303 GRCh38 Chromosome 15, 48285118: 48285119
24 SLC12A1 NM_000338.2(SLC12A1): c.2498_2499delGA (p.Arg833Ilefs) deletion Pathogenic rs1057520303 GRCh37 Chromosome 15, 48577315: 48577316
25 SLC12A1 NM_000338.2(SLC12A1): c.1833delT (p.Phe611Leufs) deletion Pathogenic rs1057520304 GRCh38 Chromosome 15, 48251661: 48251661
26 SLC12A1 NM_000338.2(SLC12A1): c.1833delT (p.Phe611Leufs) deletion Pathogenic rs1057520304 GRCh37 Chromosome 15, 48543858: 48543858
27 SLC12A1 NM_001184832.1(SLC12A1): c.668C> T (p.Thr223Met) single nucleotide variant Likely pathogenic rs377680472 GRCh37 Chromosome 15, 48519315: 48519315
28 SLC12A1 NM_001184832.1(SLC12A1): c.668C> T (p.Thr223Met) single nucleotide variant Likely pathogenic rs377680472 GRCh38 Chromosome 15, 48227118: 48227118

Expression for Bartter Syndrome, Type 1, Antenatal

Search GEO for disease gene expression data for Bartter Syndrome, Type 1, Antenatal.

Pathways for Bartter Syndrome, Type 1, Antenatal

GO Terms for Bartter Syndrome, Type 1, Antenatal

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