MCID: HYP316
MIFTS: 10

Hypocalcemia, Autosomal Dominant, with Bartter Syndrome malady

Genetic diseases (common) category

Summaries for Hypocalcemia, Autosomal Dominant, with Bartter Syndrome

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48OMIM, 34MalaCards
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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:48 601198

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

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48OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

hypocalcemia, autosomal dominant, with bartter syndrome 48


Related Diseases for Hypocalcemia, Autosomal Dominant, with Bartter Syndrome

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Symptoms for Hypocalcemia, Autosomal Dominant, with Bartter Syndrome

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48OMIM
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Clinical features from OMIM:

601198

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

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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Genetic Tests for Hypocalcemia, Autosomal Dominant, with Bartter Syndrome

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Anatomical Context for Hypocalcemia, Autosomal Dominant, with Bartter Syndrome

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

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Publications for Hypocalcemia, Autosomal Dominant, with Bartter Syndrome

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Variations for Hypocalcemia, Autosomal Dominant, with Bartter Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Hypocalcemia, Autosomal Dominant, with Bartter Syndrome:

65 (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

Clinvar genetic disease variations for Hypocalcemia, Autosomal Dominant, with Bartter Syndrome:

1 (show all 21)
id Gene Name Type Significance SNP ID Assembly Location
1CASRNM_000388.3(CASR): c.662C> T (p.Pro221Leu)single nucleotide variantPathogenicrs397514728GRCh37Chr 3, 121980544: 121980544
2CASRNM_000388.3(CASR): c.380A> C (p.Glu127Ala)single nucleotide variantPathogenicrs121909260GRCh37Chr 3, 121976122: 121976122
3CASRNM_000388.3(CASR): c.2043G> T (p.Gln681His)single nucleotide variantPathogenicrs121909261GRCh37Chr 3, 122002844: 122002844
4CASRNM_000388.3(CASR): c.346G> A (p.Ala116Thr)single nucleotide variantPathogenicrs104893691GRCh37Chr 3, 121976088: 121976088
5CASRNM_000388.3(CASR): c.2417T> C (p.Phe806Ser)single nucleotide variantPathogenicrs104893693GRCh37Chr 3, 122003218: 122003218
6CASRNM_000388.3(CASR): c.452C> T (p.Thr151Met)single nucleotide variantPathogenicrs104893694GRCh37Chr 3, 121976194: 121976194
7CASRNM_000388.3(CASR): c.354C> A (p.Asn118Lys)single nucleotide variantPathogenicrs104893695GRCh37Chr 3, 121976096: 121976096
8CASRNM_000388.3(CASR): c.382T> C (p.Phe128Leu)single nucleotide variantPathogenicrs104893696GRCh37Chr 3, 121976124: 121976124
9CASRNM_000388.3(CASR): c.571G> A (p.Glu191Lys)single nucleotide variantPathogenicrs104893697GRCh37Chr 3, 121980453: 121980453
10CASRNM_000388.3(CASR): c.1835T> C (p.Phe612Ser)single nucleotide variantPathogenicrs104893698GRCh37Chr 3, 122002636: 122002636
11CASRNM_000388.3(CASR): c.2318T> G (p.Leu773Arg)single nucleotide variantPathogenicrs104893699GRCh37Chr 3, 122003119: 122003119
12CASRNM_000388.3(CASR): c.2363T> G (p.Phe788Cys)single nucleotide variantPathogenicrs104893701GRCh37Chr 3, 122003164: 122003164
13CASRNM_000388.3(CASR): c.141A> C (p.Lys47Asn)single nucleotide variantPathogenicrs104893702GRCh37Chr 3, 121973177: 121973177
14CASRNM_000388.3(CASR): c.1846C> G (p.Leu616Val)single nucleotide variantPathogenicrs104893703GRCh37Chr 3, 122002647: 122002647
15CASRCASR, 543-BP DEL, NT2682deletionPathogenic
16CASRNM_000388.3(CASR): c.2528C> A (p.Ala843Glu)single nucleotide variantPathogenicrs104893706GRCh37Chr 3, 122003329: 122003329
17CASRNM_000388.3(CASR): c.374T> C (p.Leu125Pro)single nucleotide variantPathogenicrs104893708GRCh37Chr 3, 121976116: 121976116
18CASRNM_000388.3(CASR): c.2459C> T (p.Ser820Phe)single nucleotide variantPathogenicrs104893710GRCh37Chr 3, 122003260: 122003260
19CASRNM_000388.3(CASR): c.2362T> C (p.Phe788Leu)single nucleotide variantPathogenicrs104893711GRCh37Chr 3, 122003163: 122003163
20CASRNM_000388.3(CASR): c.1810G> A (p.Glu604Lys)single nucleotide variantPathogenicrs104893712GRCh37Chr 3, 122002611: 122002611
21CASRNM_000388.3(CASR): c.2180T> A (p.Leu727Gln)single nucleotide variantPathogenicrs104893718GRCh37Chr 3, 122002981: 122002981

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

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hypocalcemia, Autosomal Dominant, with Bartter Syndrome

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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hypocalcemia, Autosomal Dominant, with Bartter Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet