BARTS5
MCID: BRT049
MIFTS: 23

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 57 12 75 29 6
Barts5 57 12 75
Bartter Syndrome 5, Antenatal, Transient 75
Bartter Disease Type 5 12

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
polyuria resolves by 6 weeks of age


HPO:

32
bartter syndrome, type 5, antenatal, transient:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Bartter Syndrome, Type 5, Antenatal, Transient

OMIM : 57 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 hypokalemia 32 HP:0002900
2 hypercalciuria 32 HP:0002150
3 polyhydramnios 32 HP:0001561
4 hyponatremia 32 HP:0002902
5 premature birth 32 HP:0001622
6 increased circulating renin level 32 HP:0000848
7 fetal polyuria 32 HP:0001563
8 polyuria 32 HP:0000103
9 hypochloremia 32 HP:0003113
10 medullary nephrocalcinosis 32 HP:0012408

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 29 MAGED2

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

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

41
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:

75
# 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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