FBH1
MCID: FML069
MIFTS: 16

Familial Hypocalciuric Hypercalcemia Type 1 (FBH1) malady

Genetic diseases, Rare diseases, Respiratory diseases, Bone diseases, Endocrine diseases, Fetal diseases categories
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Summaries for Familial Hypocalciuric Hypercalcemia Type 1

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33MalaCards
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MalaCards: Familial Hypocalciuric Hypercalcemia Type 1, also known as hypocalciuric hypercalcemia, familial, type 1, is related to familial hypocalciuric hypercalcemia and familial hypocalciuric hypercalcemia type 2. An important gene associated with Familial Hypocalciuric Hypercalcemia Type 1 is CASR (calcium-sensing receptor).

Aliases & Classifications for Familial Hypocalciuric Hypercalcemia Type 1

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62UMLS, 43NIH Rare Diseases, 20GeneTests
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Classifications:



Aliases & Descriptions:

familial hypocalciuric hypercalcemia type 1 43
hypocalciuric hypercalcemia, familial, type 1 43 20 62
hypercalcemia, familial benign type 1 43
familial benign hypercalcemia type 1 43
familial benign hypercalcemia 62
hhc1 43
fhh1 43
fbh1 43


Related Diseases for Familial Hypocalciuric Hypercalcemia Type 1

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17GeneCards, 18GeneDecks
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Diseases in the Familial Hypocalciuric Hypercalcemia Type 3 family:

Familial Hypocalciuric Hypercalcemia familial hypocalciuric hypercalcemia type 1
Familial Hypocalciuric Hypercalcemia Type 2 Hypocalciuric Hypercalcemia, Type I
Hypocalciuric Hypercalcemia, Type Ii

Diseases related to Familial Hypocalciuric Hypercalcemia Type 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1familial hypocalciuric hypercalcemia10.4
2familial hypocalciuric hypercalcemia type 210.4
3familial hypocalciuric hypercalcemia type 310.4
4hypocalciuric hypercalcemia, type i10.4
5hypocalciuric hypercalcemia, type ii10.4

Graphical network of diseases related to Familial Hypocalciuric Hypercalcemia Type 1:



Diseases related to familial hypocalciuric hypercalcemia type 1

Symptoms for Familial Hypocalciuric Hypercalcemia Type 1

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Drugs & Therapeutics for Familial Hypocalciuric Hypercalcemia Type 1

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Familial Hypocalciuric Hypercalcemia Type 1

Search NIH Clinical Center for Familial Hypocalciuric Hypercalcemia Type 1

Genetic Tests for Familial Hypocalciuric Hypercalcemia Type 1

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20GeneTests
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Genetic tests related to Familial Hypocalciuric Hypercalcemia Type 1:

id Genetic test Affiliating Genes
1 Familial Hypocalciuric Hypercalcemia, Type I20 CASR

Anatomical Context for Familial Hypocalciuric Hypercalcemia Type 1

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Animal Models for Familial Hypocalciuric Hypercalcemia Type 1 or affiliated genes

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Publications for Familial Hypocalciuric Hypercalcemia Type 1

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Variations for Familial Hypocalciuric Hypercalcemia Type 1

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Familial Hypocalciuric Hypercalcemia Type 1:

1 (show all 16)
id Gene Name Type Significance SNP ID Assembly Location
1CASRNM_000388.3(CASR): c.662C> A (p.Pro221Gln)single nucleotide variantPathogenicrs397514728GRCh37Chr 3, 121980544: 121980544
2CASRNM_000388.3(CASR): c.2383C> T (p.Arg795Trp)single nucleotide variantPathogenicrs121909258GRCh37Chr 3, 122003184: 122003184
3CASRNM_000388.3(CASR): c.889G> A (p.Glu297Lys)single nucleotide variantPathogenicrs121909259GRCh37Chr 3, 121980771: 121980771
4CASRNM_000388.3(CASR): c.554G> A (p.Arg185Gln)single nucleotide variantPathogenicrs104893689GRCh37Chr 3, 121980436: 121980436
5CASRNM_000388.3(CASR): c.115C> G (p.Pro39Ala)single nucleotide variantPathogenicrs121909262GRCh37Chr 3, 121973151: 121973151
6CASRNM_000388.3(CASR): c.413C> T (p.Thr138Met)single nucleotide variantPathogenicrs121909263GRCh37Chr 3, 121976155: 121976155
7CASRNM_000388.3(CASR): c.428G> A (p.Gly143Glu)single nucleotide variantPathogenicrs121909264GRCh37Chr 3, 121976170: 121976170
8CASRNM_000388.3(CASR): c.185G> T (p.Arg62Met)single nucleotide variantPathogenicrs121909265GRCh37Chr 3, 121973221: 121973221
9CASRNM_000388.3(CASR): c.196C> T (p.Arg66Cys)single nucleotide variantPathogenicrs121909266GRCh37Chr 3, 121975938: 121975938
10CASRNM_000388.3(CASR): c.1942C> T (p.Arg648Ter)single nucleotide variantPathogenicrs104893705GRCh37Chr 3, 122002743: 122002743
11CASRNM_000388.3(CASR): c.1394G> A (p.Arg465Gln)single nucleotide variantPathogenicrs104893716GRCh37Chr 3, 121994675: 121994675
12CASRNM_000388.3(CASR): c.38T> C (p.Leu13Pro)single nucleotide variantPathogenicrs104893717GRCh37Chr 3, 121973074: 121973074
13CASRNM_000388.3(CASR): c.539T> G (p.Phe180Cys)single nucleotide variantPathogenicrs121909268GRCh37Chr 3, 121980421: 121980421
14CASRNM_000388.3(CASR): c.1745G> T (p.Cys582Phe)single nucleotide variantPathogenicrs104893690GRCh37Chr 3, 122002546: 122002546
15CASRNM_000388.3(CASR): c.1657G> A (p.Gly553Arg)single nucleotide variantPathogenicrs104893719GRCh37Chr 3, 122001008: 122001008
16CASRNM_000388.3(CASR): c.680G> A (p.Arg227Gln)single nucleotide variantPathogenicrs28936684GRCh37Chr 3, 121980562: 121980562

Expression for genes affiliated with Familial Hypocalciuric Hypercalcemia Type 1

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Familial Hypocalciuric Hypercalcemia Type 1

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Pathways for genes affiliated with Familial Hypocalciuric Hypercalcemia Type 1

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Compounds for genes affiliated with Familial Hypocalciuric Hypercalcemia Type 1

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GO Terms for genes affiliated with Familial Hypocalciuric Hypercalcemia Type 1

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Products for genes affiliated with Familial Hypocalciuric Hypercalcemia Type 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Hypocalciuric Hypercalcemia Type 1

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet