MCID: TRN078
MIFTS: 14

Transient Antenatal Bartter Syndrome

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

Aliases & Classifications for Transient Antenatal Bartter Syndrome

MalaCards integrated aliases for Transient Antenatal Bartter Syndrome:

Name: Transient Antenatal Bartter Syndrome 58
Bartter Syndrome Type 5 58

Classifications:

Orphanet: 58  
Rare renal diseases


External Ids:

Orphanet 58 ORPHA570371

Summaries for Transient Antenatal Bartter Syndrome

MalaCards based summary : Transient Antenatal Bartter Syndrome, also known as bartter syndrome type 5, is related to antenatal bartter syndrome and bartter syndrome, type 5, antenatal, transient. An important gene associated with Transient Antenatal Bartter Syndrome is MAGED2 (MAGE Family Member D2).

Related Diseases for Transient Antenatal Bartter Syndrome

Diseases in the Antenatal Bartter Syndrome family:

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

Diseases related to Transient Antenatal Bartter Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 antenatal bartter syndrome 27.5 NAP1L4 NAP1L1 MAGED2 GNAS DNAJB1
2 bartter syndrome, type 5, antenatal, transient 12.5
3 bartter disease 10.1
4 hypocalcemia, autosomal dominant 1 10.0
5 beckwith-wiedemann syndrome 9.4 NAP1L4 GNAS
6 polyhydramnios 8.2 NAP1L4 NAP1L1 MAGED2 GNAS DNAJB1

Graphical network of the top 20 diseases related to Transient Antenatal Bartter Syndrome:



Diseases related to Transient Antenatal Bartter Syndrome

Symptoms & Phenotypes for Transient Antenatal Bartter Syndrome

Drugs & Therapeutics for Transient Antenatal Bartter Syndrome

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

Genetic Tests for Transient Antenatal Bartter Syndrome

Anatomical Context for Transient Antenatal Bartter Syndrome

Publications for Transient Antenatal Bartter Syndrome

Articles related to Transient Antenatal Bartter Syndrome:

# Title Authors PMID Year
1
Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome. 61
29146702 2018
2
Activating Calcium-Sensing Receptor Mutations: Prospects for Future Treatment with Calcilytics. 61
27339034 2016
3
Renal physiology: MAGED2 mutations in transient antenatal Bartter syndrome. 61
27181088 2016
4
NKCC2 activity is inhibited by the Bartter's syndrome type 5 gain-of-function CaR-A843E mutant in renal cells. 61
25631355 2015
5
Amino alcohol- (NPS-2143) and quinazolinone-derived calcilytics (ATF936 and AXT914) differentially mitigate excessive signalling of calcium-sensing receptor mutants causing Bartter syndrome Type 5 and autosomal dominant hypocalcemia. 61
25506941 2014

Variations for Transient Antenatal Bartter Syndrome

Expression for Transient Antenatal Bartter Syndrome

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

Pathways for Transient Antenatal Bartter Syndrome

GO Terms for Transient Antenatal Bartter Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.02 NAP1L4 NAP1L1 MAGED2 GNAS DNAJB1

Biological processes related to Transient Antenatal Bartter Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleosome assembly GO:0006334 8.96 NAP1L4 NAP1L1
2 female pregnancy GO:0007565 8.62 MAGED2 GNAS

Molecular functions related to Transient Antenatal Bartter Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 unfolded protein binding GO:0051082 8.62 NAP1L4 DNAJB1

Sources for Transient Antenatal Bartter Syndrome

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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