MCID: BRT041
MIFTS: 6

Bartter Syndrome with Hypocalcemia

Categories: Rare diseases

Aliases & Classifications for Bartter Syndrome with Hypocalcemia

MalaCards integrated aliases for Bartter Syndrome with Hypocalcemia:

Name: Bartter Syndrome with Hypocalcemia 58

Characteristics:

Orphanet epidemiological data:

58
bartter syndrome with hypocalcemia
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: normal life expectancy;

Classifications:



External Ids:

ICD10 via Orphanet 33 E26.8
Orphanet 58 ORPHA263417

Summaries for Bartter Syndrome with Hypocalcemia

MalaCards based summary : Bartter Syndrome with Hypocalcemia An important gene associated with Bartter Syndrome with Hypocalcemia is CASR (Calcium Sensing Receptor).

Related Diseases for Bartter Syndrome with Hypocalcemia

Symptoms & Phenotypes for Bartter Syndrome with Hypocalcemia

Drugs & Therapeutics for Bartter Syndrome with Hypocalcemia

Search Clinical Trials , NIH Clinical Center for Bartter Syndrome with Hypocalcemia

Genetic Tests for Bartter Syndrome with Hypocalcemia

Anatomical Context for Bartter Syndrome with Hypocalcemia

Publications for Bartter Syndrome with Hypocalcemia

Variations for Bartter Syndrome with Hypocalcemia

ClinVar genetic disease variations for Bartter Syndrome with Hypocalcemia:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CASR NM_000388.4(CASR):c.2528C>A (p.Ala843Glu)SNV Pathogenic 8343 rs104893706 3:122003329-122003329 3:122284482-122284482
2 CASR NM_000388.4(CASR):c.393C>G (p.Cys131Trp)SNV Pathogenic 8344 rs121909267 3:121976135-121976135 3:122257288-122257288
3 CASR NM_000388.4(CASR):c.374T>C (p.Leu125Pro)SNV Pathogenic 8346 rs104893708 3:121976116-121976116 3:122257269-122257269
4 CASR NM_000388.4(CASR):c.85A>G (p.Lys29Glu)SNV Pathogenic 60669 rs397514729 3:121973121-121973121 3:122254274-122254274

Expression for Bartter Syndrome with Hypocalcemia

Search GEO for disease gene expression data for Bartter Syndrome with Hypocalcemia.

Pathways for Bartter Syndrome with Hypocalcemia

GO Terms for Bartter Syndrome with Hypocalcemia

Sources for Bartter Syndrome with Hypocalcemia

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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