MCID: BRT033
MIFTS: 35

Bartter Syndrome, Type 1

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Ear diseases, Fetal diseases, Endocrine diseases

Aliases & Classifications for Bartter Syndrome, Type 1

MalaCards integrated aliases for Bartter Syndrome, Type 1:

Name: Bartter Syndrome, Type 1 54 13
Hyperprostaglandin E Syndrome 1 12 50 71
Hypokalemic Alkalosis with Hypercalciuria Antenatal 1 50 71
Antenatal Bartter Syndrome Type 1 50 24
Bartter Syndrome Type 1 12 24
Bartter Disease Type 1 12 14
Barts1 12 71
Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis 69
Hypokalemic Alkalosis with Hypercalciuria 1 Antenatal 12
Bartter Syndrome, Type 1, Antenatal 29
Bartter Syndrome, Antenatal Type 1 69
Bartter Syndrome Type 1 Antenatal 12
Bartter Syndrome Antenatal Type 1 50
Bartter Syndrome 1, Antenatal 71
Antenatal Bartter Syndrome 1 71
Abs1 71
Bs1 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



Summaries for Bartter Syndrome, Type 1

OMIM : 54
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, also known as hyperprostaglandin e syndrome 1, is related to antley-bixler syndrome with genital anomalies and disordered steroidogenesis and bartter syndrome, type 4b, digenic, and has symptoms including short stature, failure to thrive and diarrhea. An important gene associated with Bartter Syndrome, Type 1 is SLC12A1 (Solute Carrier Family 12 Member 1). The drugs Amphotericin B and Miconazole have been mentioned in the context of this disorder.

UniProtKB/Swiss-Prot : 71 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.

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.

Related Diseases for Bartter Syndrome, Type 1

Diseases in the Bartter Disease family:

Bartter Syndrome, Type 3 Bartter Syndrome, Type 4a
Bartter Syndrome, Type 2 Bartter Syndrome, Type 1
Bartter Syndrome Type 4

Diseases related to Bartter Syndrome, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 antley-bixler syndrome with genital anomalies and disordered steroidogenesis 10.8
2 bartter syndrome, type 4b, digenic 10.8
3 bartter syndrome, type 3 10.8
4 johanson-blizzard syndrome 9.5 GCG SLC12A1

Symptoms & Phenotypes for Bartter Syndrome, Type 1

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Neurologic- Central Nervous System:
mental retardation
developmental delay
paresthesias
seizures

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

Prenatal Manifestations- Amniotic Fluid:
polyhydramnios
fetal polyuria
increased chloride levels

Prenatal Manifestations- Delivery:
premature delivery

Skeletal:
osteopenia
chondrocalcinosis

Cardiovascular- Vascular:
low-to-normal blood pressure

Growth- Other:
failure to thrive

Abdomen- Gastroin testinal:
diarrhea
vomiting
constipation

Laboratory- Abnormalities:
hypercalciuria
hypokalemia
hypochloremia
increased urinary potassium
increased urinary chloride
more
Muscle Soft Tissue:
muscle cramps
tetany
generalized weakness

Growth- Weight:
low birth weight

Metabolic Features:
fever
dehydration
hypokalemic metabolic alkalosis

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:

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

UMLS symptoms related to Bartter Syndrome, Type 1:


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

Drugs & Therapeutics for Bartter Syndrome, Type 1

Drugs for Bartter Syndrome, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amphotericin B Approved, Investigational Phase 4 1397-89-3 14956 5280965
2
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
3
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
4 Anti-Bacterial Agents Phase 4
5 Antifungal Agents Phase 4
6 Anti-Infective Agents Phase 4
7 Antiparasitic Agents Phase 4
8 Antiprotozoal Agents Phase 4
9 diuretics Phase 4
10 Diuretics, Potassium Sparing Phase 4
11 Hormone Antagonists Phase 4
12 Hormones Phase 4
13 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
14 Liposomal amphotericin B Phase 4
15 Mineralocorticoid Receptor Antagonists Phase 4
16 Mineralocorticoids Phase 4
17 Natriuretic Agents Phase 4

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Use of Spironolactone for the Prevention of Electrolyte Abnormalities in Patients Treated With Amphotericin B Terminated NCT01843309 Phase 4 Spironolactone 100mg;Spironolactone 200mg;Placebo

Search NIH Clinical Center for Bartter Syndrome, Type 1

Genetic Tests for Bartter Syndrome, Type 1

Genetic tests related to Bartter Syndrome, Type 1:

id Genetic test Affiliating Genes
1 Bartter Syndrome, Type 1, Antenatal 29
2 Bartter Syndrome Type 1 24 SLC12A1

Anatomical Context for Bartter Syndrome, Type 1

Publications for Bartter Syndrome, Type 1

Articles related to Bartter Syndrome, Type 1:

id Title Authors Year
1
Novel SLC12A1 (NKCC2) mutations in two families with Bartter syndrome type 1. ( 17998760 )
2007

Variations for Bartter Syndrome, Type 1

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

71
id 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:

6 (show all 12)
id 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.814G> T (p.Val272Phe) single nucleotide variant Pathogenic rs137853158 GRCh37 Chromosome 15, 48521475: 48521475
3 SLC12A1 NM_000338.2(SLC12A1): c.1875G> A (p.Trp625Ter) single nucleotide variant Pathogenic rs137853159 GRCh37 Chromosome 15, 48543900: 48543900
4 SLC12A1 NM_000338.2(SLC12A1): c.724+4A> G single nucleotide variant Pathogenic rs774515747 GRCh37 Chromosome 15, 48518772: 48518772
5 SLC12A1 NM_000338.2(SLC12A1): c.2095delG (p.Asp699Thrfs) deletion Pathogenic rs1057519608 GRCh37 Chromosome 15, 48551449: 48551449
6 SLC12A1 NM_000338.2(SLC12A1): c.843G> C (p.Glu281Asp) single nucleotide variant Likely pathogenic rs886039870 GRCh38 Chromosome 15, 48229307: 48229307
7 SLC12A1 NM_000338.2(SLC12A1): c.1163delT (p.Phe388Serfs) deletion Pathogenic rs886039884 GRCh38 Chromosome 15, 48234952: 48234952
8 SLC12A1 NM_000338.2(SLC12A1): c.1137delC (p.Phe380Serfs) deletion Pathogenic rs1057520300 GRCh38 Chromosome 15, 48234926: 48234926
9 SLC12A1 NM_000338.2(SLC12A1): c.1883C> A (p.Ala628Asp) single nucleotide variant Pathogenic rs1057520301 GRCh38 Chromosome 15, 48251711: 48251711
10 SLC12A1 NM_000338.2(SLC12A1): c.2787dupC (p.Thr931Asnfs) duplication Pathogenic rs1057520302 GRCh38 Chromosome 15, 48288430: 48288430
11 SLC12A1 NM_000338.2(SLC12A1): c.2498_2499delGA (p.Arg833Ilefs) deletion Pathogenic rs1057520303 GRCh38 Chromosome 15, 48285118: 48285119
12 SLC12A1 NM_000338.2(SLC12A1): c.1833delT (p.Phe611Leufs) deletion Pathogenic rs1057520304 GRCh38 Chromosome 15, 48251661: 48251661

Expression for Bartter Syndrome, Type 1

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

Pathways for Bartter Syndrome, Type 1

GO Terms for Bartter Syndrome, Type 1

Sources for Bartter Syndrome, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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