BARTS5
MCID: BRT049
MIFTS: 22

Bartter Syndrome, Type 5, Antenatal, Transient (BARTS5)

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

Aliases & Classifications for Bartter Syndrome, Type 5, Antenatal, Transient

MalaCards integrated aliases for Bartter Syndrome, Type 5, Antenatal, Transient:

Name: Bartter Syndrome, Type 5, Antenatal, Transient 58 12 76 30 6
Barts5 58 12 76
Bartter Syndrome 5, Antenatal, Transient 76
Bartter Disease Type 5 12

Characteristics:

OMIM:

58
Inheritance:
x-linked recessive

Miscellaneous:
polyuria resolves by 6 weeks of age


HPO:

33
bartter syndrome, type 5, antenatal, transient:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Bartter Syndrome, Type 5, Antenatal, Transient

OMIM : 58 Antenatal Bartter syndrome is a potentially life-threatening disease characterized by fetal polyuria, polyhydramnios, prematurity, and postnatal polyuria with persistent renal salt wasting. In transient antenatal Bartter syndrome-5, the onset of polyhydramnios and labor occur several weeks earlier than in other forms of Bartter syndrome. Polyuria lasts from a few days to 6 weeks, ending around 30 to 33 weeks of gestational age. Other features in the neonatal period include hypercalciuria, causing nephrocalcinosis in some cases, as well as hyponatremia, hypokalemia, and elevated renin and aldosterone; these subsequently resolve or normalize, although nephrocalcinosis may persist (Laghmani et al., 2016). (300971)

MalaCards based summary : Bartter Syndrome, Type 5, Antenatal, Transient, is also known as barts5. An important gene associated with Bartter Syndrome, Type 5, Antenatal, Transient is MAGED2 (MAGE Family Member D2). Affiliated tissues include testes, and related phenotypes are hypokalemia and hypercalciuria

Disease Ontology : 12 A Bartter disease that has material basis in mutation in the MAGED2 gene on chromosome Xp11.

UniProtKB/Swiss-Prot : 76 Bartter syndrome 5, antenatal, transient: An X-linked recessive form of Bartter syndrome, a 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. BARTS5 is an antenatal form beginning in utero with marked fetal polyuria that leads to polyhydramnios and premature delivery. It is characterized by severe but transient symptoms that can resolve with age.

Related Diseases for Bartter Syndrome, Type 5, Antenatal, Transient

Diseases in the Antenatal Bartter Syndrome family:

Bartter Syndrome, Type 2, Antenatal Bartter Syndrome, Type 5, Antenatal, Transient
Bartter Syndrome, Type 1, Antenatal

Symptoms & Phenotypes for Bartter Syndrome, Type 5, Antenatal, Transient

Human phenotypes related to Bartter Syndrome, Type 5, Antenatal, Transient:

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 hypokalemia 33 HP:0002900
2 hypercalciuria 33 HP:0002150
3 polyhydramnios 33 HP:0001561
4 hyponatremia 33 HP:0002902
5 premature birth 33 HP:0001622
6 increased circulating renin level 33 HP:0000848
7 fetal polyuria 33 HP:0001563
8 polyuria 33 HP:0000103
9 hypochloremia 33 HP:0003113
10 medullary nephrocalcinosis 33 HP:0012408

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
hypokalemia
hyponatremia
hypochloremia
hyperreninemia
elevated serum aldosterone level
more
Prenatal Manifestations Delivery:
preterm delivery

Prenatal Manifestations Amniotic Fluid:
fetal polyuria
early-onset severe polyhydramnios
increased chloride content of amniotic fluid

Genitourinary Kidneys:
polyuria (fetal and transient neonatal)
severe renal sodium loss (transient neonatal)
severe renal chloride loss (transient neonatal)
hypercalciuria (transient neonatal)
medullary nephrocalcinosis (in some patients)

Clinical features from OMIM:

300971

Drugs & Therapeutics for Bartter Syndrome, Type 5, Antenatal, Transient

Search Clinical Trials , NIH Clinical Center for Bartter Syndrome, Type 5, Antenatal, Transient

Genetic Tests for Bartter Syndrome, Type 5, Antenatal, Transient

Genetic tests related to Bartter Syndrome, Type 5, Antenatal, Transient:

# Genetic test Affiliating Genes
1 Bartter Syndrome, Type 5, Antenatal, Transient 30 MAGED2

Anatomical Context for Bartter Syndrome, Type 5, Antenatal, Transient

MalaCards organs/tissues related to Bartter Syndrome, Type 5, Antenatal, Transient:

42
Testes

Publications for Bartter Syndrome, Type 5, Antenatal, Transient

Variations for Bartter Syndrome, Type 5, Antenatal, Transient

UniProtKB/Swiss-Prot genetic disease variations for Bartter Syndrome, Type 5, Antenatal, Transient:

76
# Symbol AA change Variation ID SNP ID
1 MAGED2 p.Arg446Cys VAR_076836 rs878854407

ClinVar genetic disease variations for Bartter Syndrome, Type 5, Antenatal, Transient:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MAGED2 NM_177433.2(MAGED2): c.1038C> G (p.Tyr346Ter) single nucleotide variant Pathogenic rs878854404 GRCh37 Chromosome X, 54838637: 54838637
2 MAGED2 NM_177433.2(MAGED2): c.1038C> G (p.Tyr346Ter) single nucleotide variant Pathogenic rs878854404 GRCh38 Chromosome X, 54812204: 54812204
3 MAGED2 NM_177433.2(MAGED2): c.991-2A> G single nucleotide variant Pathogenic rs878854405 GRCh38 Chromosome X, 54812155: 54812155
4 MAGED2 NM_177433.2(MAGED2): c.991-2A> G single nucleotide variant Pathogenic rs878854405 GRCh37 Chromosome X, 54838588: 54838588
5 MAGED2 NM_177433.2(MAGED2): c.386_387delTG (p.Val129Glyfs) deletion Pathogenic rs878854406 GRCh37 Chromosome X, 54836495: 54836496
6 MAGED2 NM_177433.2(MAGED2): c.386_387delTG (p.Val129Glyfs) deletion Pathogenic rs878854406 GRCh38 Chromosome X, 54810062: 54810063
7 MAGED2 NM_177433.2(MAGED2): c.1336C> T (p.Arg446Cys) single nucleotide variant Pathogenic rs878854407 GRCh37 Chromosome X, 54841158: 54841158
8 MAGED2 NM_177433.2(MAGED2): c.1336C> T (p.Arg446Cys) single nucleotide variant Pathogenic rs878854407 GRCh38 Chromosome X, 54814725: 54814725
9 MAGED2 NM_177433.2(MAGED2): c.397A> T (p.Lys133Ter) single nucleotide variant Pathogenic rs875989852 GRCh37 Chromosome X, 54836506: 54836506
10 MAGED2 NM_177433.2(MAGED2): c.397A> T (p.Lys133Ter) single nucleotide variant Pathogenic rs875989852 GRCh38 Chromosome X, 54810073: 54810073

Expression for Bartter Syndrome, Type 5, Antenatal, Transient

Search GEO for disease gene expression data for Bartter Syndrome, Type 5, Antenatal, Transient.

Pathways for Bartter Syndrome, Type 5, Antenatal, Transient

GO Terms for Bartter Syndrome, Type 5, Antenatal, Transient

Cellular components related to Bartter Syndrome, Type 5, Antenatal, Transient according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleolus GO:0005730 8.62 MAGED2 SNORA11

Sources for Bartter Syndrome, Type 5, Antenatal, Transient

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
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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
Content
Loading form....