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 74
Bartter Syndrome, Type 1 57 13 40
Barts1 57 12 74
Hypokalemic Alkalosis with Hypercalciuria Antenatal 1 53 74
Bartter Disease Type 1 12 15
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis 72
Hypokalemic Alkalosis with Hypercalciuria 1, Antenatal 57
Hypokalemic Alkalosis with Hypercalciuria 1 Antenatal 12
Bartter Syndrome, Antenatal Type 1 72
Bartter Syndrome Type 1 Antenatal 12
Bartter Syndrome Antenatal Type 1 53
Antenatal Bartter Syndrome Type 1 53
Bartter Syndrome 1, Antenatal 74
Antenatal Bartter Syndrome 1 74
Bartter Syndrome Type 1 12
Abs1 74
Bs1 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110142
MeSH 44 D001477
ICD10 33 E26.8
MedGen 42 C1866495
UMLS 72 C1866495 C3150099

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 antley-bixler syndrome with genital anomalies and disordered steroidogenesis and bartter syndrome, type 3, 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 hyperparathyroidism and osteopenia

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 : 74 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

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

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

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
Muscle Soft Tissue:
muscle cramps
tetany
generalized weakness

Cardiovascular Vascular:
low-to-normal blood pressure

Prenatal Manifestations Delivery:
premature delivery

Neurologic Central Nervous System:
seizures
developmental delay
mental retardation
paresthesias

Abdomen Gastrointestinal:
constipation
vomiting
diarrhea

Metabolic Features:
dehydration
fever
hypokalemic metabolic alkalosis

Prenatal Manifestations Amniotic Fluid:
polyhydramnios
fetal polyuria
increased chloride levels

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

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

Growth Weight:
low birth weight

Clinical features from OMIM:

601678

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


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

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:

(showing 19, show less)
# Title Authors PMID Year
1
Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism. 38 8 71
26963954 2016
2
A novel SLC12A1 gene mutation associated with hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis in four patients. 8 71
28095294 2017
3
In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation. 8 71
19513753 2009
4
A common NKCC2 mutation in Costa Rican Bartter's syndrome patients: evidence for a founder effect. 8 71
9355073 1997
5
Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. 8 71
8640224 1996
6
Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and review. 8
25741940 2015
7
Understanding Bartter syndrome and Gitelman syndrome. 8
22282380 2012
8
Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. 8
9326936 1997
9
Bartter syndrome in Costa Rica: a description of 20 cases. 8
9203176 1997
10
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. 8
9002665 1997
11
[Antenatal form of Bartter's syndrome]. 8
8457138 1993
12
Role of prostaglandins in hyperprostaglandin E syndrome and in selected renal tubular disorders. 8
3153322 1987
13
Congenital hypokalemia with hypercalciuria in preterm infants: a hyperprostaglandinuric tubular syndrome different from Bartter syndrome. 8
3863906 1985
14
Bartter syndrome in two siblings--antenatal and neonatal observations. 8
3888887 1985
15
A variant of Bartter's syndrome. Bartter's syndrome associated with hydramnios, prematurity, hypercalciuria and nephrocalcinosis. 8
6395627 1984
16
Bartter Syndrome Type 1 Presenting as Nephrogenic Diabetes Insipidus. 38
29527380 2018
17
Genetic heterogeneity in patients with Bartter syndrome type 1. 38
28000888 2017
18
Molecular regulation of NKCC2 in the thick ascending limb. 38
21900458 2011
19
Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1. 38
17998760 2007

Variations for Bartter Syndrome, Type 1, Antenatal

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

6 (showing 18, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC12A1 NM_001184832.2(SLC12A1): c.1137del (p.Phe380fs) deletion Pathogenic rs1057520300 15:48527123-48527123 15:48234926-48234926
2 SLC12A1 NM_001184832.2(SLC12A1): c.1883C> A (p.Ala628Asp) single nucleotide variant Pathogenic rs1057520301 15:48543908-48543908 15:48251711-48251711
3 SLC12A1 NM_001184832.2(SLC12A1): c.2787dup (p.Thr931fs) duplication Pathogenic rs1057520302 15:48580627-48580627 15:48288430-48288430
4 SLC12A1 NM_001184832.2(SLC12A1): c.2494_2495GA[2] (p.Arg833fs) short repeat Pathogenic rs1057520303 15:48577315-48577316 15:48285118-48285119
5 SLC12A1 NM_001184832.2(SLC12A1): c.1833del (p.Phe611fs) deletion Pathogenic rs1057520304 15:48543858-48543858 15:48251661-48251661
6 SLC12A1 NM_001184832.2(SLC12A1): c.1942G> A (p.Asp648Asn) single nucleotide variant Pathogenic rs137853157 15:48543967-48543967 15:48251770-48251770
7 SLC12A1 NM_001184832.2(SLC12A1): c.814G> T (p.Val272Phe) single nucleotide variant Pathogenic rs137853158 15:48521475-48521475 15:48229278-48229278
8 SLC12A1 NM_001184832.2(SLC12A1): c.1875G> A (p.Trp625Ter) single nucleotide variant Pathogenic rs137853159 15:48543900-48543900 15:48251703-48251703
9 SLC12A1 NM_001184832.2(SLC12A1): c.629-504A> G single nucleotide variant Pathogenic rs774515747 15:48518772-48518772 15:48226575-48226575
10 SLC12A1 NM_001184832.2(SLC12A1): c.2095del (p.Asp699fs) deletion Pathogenic rs1057519608 15:48551449-48551449 15:48259252-48259252
11 SLC12A1 NM_001184832.2(SLC12A1): c.1163del (p.Phe388fs) deletion Pathogenic/Likely pathogenic rs779588655 15:48527149-48527149 15:48234952-48234952
12 SLC12A1 NM_001184832.2(SLC12A1): c.843G> C (p.Glu281Asp) single nucleotide variant Likely pathogenic rs886039870 15:48521504-48521504 15:48229307-48229307
13 SLC12A1 NM_001184832.2(SLC12A1): c.2834_2873+12del deletion Likely pathogenic 15:48580674-48580725 15:48288477-48288528
14 SLC12A1 NM_001184832.2(SLC12A1): c.1522G> A (p.Ala508Thr) single nucleotide variant Likely pathogenic rs765347751 15:48539175-48539175 15:48246978-48246978
15 SLC12A1 NM_001184832.2(SLC12A1): c.668C> T (p.Thr223Met) single nucleotide variant Likely pathogenic rs377680472 15:48519315-48519315 15:48227118-48227118
16 SLC12A1 NM_001184832.2(SLC12A1): c.206G> A (p.Cys69Tyr) single nucleotide variant Uncertain significance 15:48500122-48500122 15:48207925-48207925
17 SLC12A1 NM_001184832.2(SLC12A1): c.2435T> G (p.Ile812Arg) single nucleotide variant Uncertain significance 15:48566800-48566800 15:48274603-48274603
18 SLC12A1 NM_001184832.2(SLC12A1): c.2873T> C (p.Val958Ala) single nucleotide variant Benign/Likely benign rs1552311 15:48580713-48580713 15:48288516-48288516

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

74 (showing 2, show less)
# Symbol AA change Variation ID SNP ID
1 SLC12A1 p.Val272Phe VAR_010223 rs137853158
2 SLC12A1 p.Asp648Asn VAR_010224 rs137853157

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

Sources for Bartter Syndrome, Type 1, Antenatal

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