MCID: HYP316

Hypocalcemia, Autosomal Dominant, with Bartter Syndrome malady

Summaries for Hypocalcemia, Autosomal Dominant, with Bartter Syndrome

About this section
Sources:
46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MalaCards: Hypocalcemia, Autosomal Dominant, with Bartter Syndrome An important gene associated with Hypocalcemia, Autosomal Dominant, with Bartter Syndrome is CASR (calcium-sensing receptor).

Description from OMIM:46 601198

Aliases & Classifications for Hypocalcemia, Autosomal Dominant, with Bartter Syndrome

About this section
Sources:
46OMIM
See all sources

Aliases & Descriptions:

hypocalcemia, autosomal dominant, with bartter syndrome 46


Related Diseases for Hypocalcemia, Autosomal Dominant, with Bartter Syndrome

About this section

Clinical Features for Hypocalcemia, Autosomal Dominant, with Bartter Syndrome

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

601198

Drugs & Therapeutics for Hypocalcemia, Autosomal Dominant, with Bartter Syndrome

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Hypocalcemia, Autosomal Dominant, with Bartter Syndrome

Drug clinical trials:

Search ClinicalTrials for Hypocalcemia, Autosomal Dominant, with Bartter Syndrome

Search NIH Clinical Center for Hypocalcemia, Autosomal Dominant, with Bartter Syndrome

Search CenterWatch for Hypocalcemia, Autosomal Dominant, with Bartter Syndrome

Genetic Tests for Hypocalcemia, Autosomal Dominant, with Bartter Syndrome

About this section

Anatomical Context for Hypocalcemia, Autosomal Dominant, with Bartter Syndrome

About this section

Animal Models for Hypocalcemia, Autosomal Dominant, with Bartter Syndrome or affiliated genes

About this section

Publications for Hypocalcemia, Autosomal Dominant, with Bartter Syndrome

About this section

Genetic Variations for Hypocalcemia, Autosomal Dominant, with Bartter Syndrome

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Hypocalcemia, Autosomal Dominant, with Bartter Syndrome:

62 (show all 21)
id Symbol AA change Variation ID SNP ID
1CASRp.Ala116ThrVAR_003588
2CASRp.Glu127AlaVAR_003589
3CASRp.Gln681HisVAR_003598
4CASRp.Phe806SerVAR_003600
5CASRp.Leu616ValVAR_015414
6CASRp.Glu767LysVAR_021019
7CASRp.Lys47AsnVAR_058050
8CASRp.Asn118LysVAR_058051
9CASRp.Leu125ProVAR_058052
10CASRp.Phe128LeuVAR_058053
11CASRp.Cys131TrpVAR_058054
12CASRp.Thr151MetVAR_058055
13CASRp.Glu191LysVAR_058058
14CASRp.Glu604LysVAR_058070
15CASRp.Phe612SerVAR_058071
16CASRp.Leu727GlnVAR_058075
17CASRp.Leu773ArgVAR_058078
18CASRp.Phe788CysVAR_058079
19CASRp.Phe788LeuVAR_058080
20CASRp.Ser820PheVAR_058081
21CASRp.Ala843GluVAR_058082

Expression for genes affiliated with Hypocalcemia, Autosomal Dominant, with Bartter Syndrome

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Hypocalcemia, Autosomal Dominant, with Bartter Syndrome

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

Pathways for genes affiliated with Hypocalcemia, Autosomal Dominant, with Bartter Syndrome

About this section

Compounds for genes affiliated with Hypocalcemia, Autosomal Dominant, with Bartter Syndrome

About this section

GO Terms for genes affiliated with Hypocalcemia, Autosomal Dominant, with Bartter Syndrome

About this section

Products for genes affiliated with Hypocalcemia, Autosomal Dominant, with Bartter Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hypocalcemia, Autosomal Dominant, with Bartter Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet