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 56 12 73 29 6
Barts5 56 12 73
Syndrome, Bartter, Type 5, Antenatal, Transient 39
Bartter Syndrome 5, Antenatal, Transient 73
Bartter Disease Type 5 12

Characteristics:

OMIM:

56
Inheritance:
x-linked recessive

Miscellaneous:
polyuria resolves by 6 weeks of age


HPO:

31
bartter syndrome, type 5, antenatal, transient:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110147
OMIM 56 300971
OMIM Phenotypic Series 56 PS601678
MeSH 43 D001477
ICD10 32 E26.8

Summaries for Bartter Syndrome, Type 5, Antenatal, Transient

OMIM : 56 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 polyhydramnios

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

UniProtKB/Swiss-Prot : 73 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

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

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

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 hypokalemia 31 HP:0002900
2 polyhydramnios 31 HP:0001561
3 hypercalciuria 31 HP:0002150
4 hyponatremia 31 HP:0002902
5 premature birth 31 HP:0001622
6 fetal polyuria 31 HP:0001563
7 increased circulating renin level 31 HP:0000848
8 medullary nephrocalcinosis 31 HP:0012408
9 polyuria 31 HP:0000103
10 hypochloremia 31 HP:0003113

Symptoms via clinical synopsis from OMIM:

56
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 29 MAGED2

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

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

40
Testes

Publications for Bartter Syndrome, Type 5, Antenatal, Transient

Articles related to Bartter Syndrome, Type 5, Antenatal, Transient:

# Title Authors PMID Year
1
Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations. 6 56
27120771 2016
2
Neonatal Bartter syndrome: spontaneous resolution of all signs and symptoms. 56 6
9630034 1998

Variations for Bartter Syndrome, Type 5, Antenatal, Transient

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MAGED2 NM_177433.3(MAGED2):c.1038C>G (p.Tyr346Ter)SNV Pathogenic 226031 rs878854404 X:54838637-54838637 X:54812204-54812204
2 MAGED2 NM_177433.3(MAGED2):c.991-2A>GSNV Pathogenic 226032 rs878854405 X:54838588-54838588 X:54812155-54812155
3 MAGED2 NM_177433.3(MAGED2):c.384_385TG[1] (p.Val129fs)short repeat Pathogenic 226033 rs878854406 X:54836493-54836494 X:54810060-54810061
4 MAGED2 NM_177433.3(MAGED2):c.1336C>T (p.Arg446Cys)SNV Pathogenic 226034 rs878854407 X:54841158-54841158 X:54814725-54814725
5 MAGED2 NM_177433.3(MAGED2):c.397A>T (p.Lys133Ter)SNV Pathogenic 226035 rs875989852 X:54836506-54836506 X:54810073-54810073

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

73
# Symbol AA change Variation ID SNP ID
1 MAGED2 p.Arg446Cys VAR_076836 rs878854407

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

Sources for Bartter Syndrome, Type 5, Antenatal, Transient

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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