MCID: TRN078
MIFTS: 9

Transient Antenatal Bartter Syndrome

Categories: Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Reproductive 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 bartter syndrome, type 5, antenatal, transient and bartter disease.

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 bartter syndrome, type 5, antenatal, transient 11.3
2 bartter disease 10.1
3 antenatal bartter syndrome 10.1
4 hypocalcemia, autosomal dominant 1 10.0

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

Sources for Transient Antenatal Bartter Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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