FBH
MCID: HYP314
MIFTS: 28

Hypocalciuric Hypercalcemia, Type I (FBH) malady

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

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47OMIM, 33MalaCards
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MalaCards: Hypocalciuric Hypercalcemia, Type I, also known as familial benign hypercalcemia, is related to hypercalcemia and primary hyperparathyroidism. An important gene associated with Hypocalciuric Hypercalcemia, Type I is CASR (calcium-sensing receptor). Affiliated tissues include bone.

Description from OMIM:47 145980,145981,600740

Aliases & Classifications for Hypocalciuric Hypercalcemia, Type I

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49Orphanet, 62UMLS, 47OMIM, 59SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 36MESH via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
familial benign hypercalcemia:
Inheritance: Autosomal dominant; Age of onset: Variable; Age of death: Normal
familial hypocalciuric hypercalcemia type 1:
Inheritance: Autosomal dominant


Aliases & Descriptions:

hypocalciuric hypercalcemia, type i 47
familial benign hypercalcemia 49 62
hypocalciuric hypercalcemia, familial, type 1 62
familial benign hypocalciuric hypercalcemia 49
familial hypocalciuric hypercalcemia type 1 49
familial hypocalciuric hypercalcemia 49
fhh type 1 49
fbhh 49
fbh 49
fhh 49


External Ids:

SNOMED-CT via Orphanet59 190868007, 237885008
ICD10 via Orphanet26 E83.5
MESH via Orphanet36 C537145
UMLS via Orphanet63 C0342637, C1809471

Related Diseases for Hypocalciuric Hypercalcemia, Type I

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Hypocalciuric Hypercalcemia, Type I:



Diseases related to hypocalciuric hypercalcemia, type i

Symptoms for Hypocalciuric Hypercalcemia, Type I

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47OMIM
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Symptoms by clinical synopsis from OMIM:

145980

Clinical features from OMIM:

145980,145981,600740

Drugs & Therapeutics for Hypocalciuric Hypercalcemia, Type I

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Hypocalciuric Hypercalcemia, Type I

Search NIH Clinical Center for Hypocalciuric Hypercalcemia, Type I

Genetic Tests for Hypocalciuric Hypercalcemia, Type I

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Anatomical Context for Hypocalciuric Hypercalcemia, Type I

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33MalaCards
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MalaCards organs/tissues related to Hypocalciuric Hypercalcemia, Type I:

33
Bone

Animal Models for Hypocalciuric Hypercalcemia, Type I or affiliated genes

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Publications for Hypocalciuric Hypercalcemia, Type I

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Variations for Hypocalciuric Hypercalcemia, Type I

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Hypocalciuric Hypercalcemia, Type I:

64 (show all 32)
id Symbol AA change Variation ID SNP ID
1CASRp.Pro39AlaVAR_003585
2CASRp.Arg62MetVAR_003586
3CASRp.Arg66CysVAR_003587
4CASRp.Thr138MetVAR_003590
5CASRp.Gly143GluVAR_003591
6CASRp.Leu174ArgVAR_003592
7CASRp.Arg185GlnVAR_003593
8CASRp.Arg227GlnVAR_003595
9CASRp.Glu297LysVAR_003596
10CASRp.Arg795TrpVAR_003599
11CASRp.Gly557GluVAR_012649
12CASRp.Leu11SerVAR_058046
13CASRp.Leu13ProVAR_058047
14CASRp.Gly21ArgVAR_058049
15CASRp.Ser171AsnVAR_058056
16CASRp.Phe180CysVAR_058057
17CASRp.Pro221GlnVAR_058059
18CASRp.Lys225ThrVAR_058060
19CASRp.Ser271PheVAR_058062
20CASRp.Gly397ArgVAR_058063
21CASRp.Arg465GlnVAR_058064
22CASRp.Gly509ArgVAR_058065rs193922423
23CASRp.Gly553ArgVAR_058066
24CASRp.Ile555ValVAR_058067
25CASRp.Cys562TyrVAR_058068
26CASRp.Cys582PheVAR_058069
27CASRp.Gly623AspVAR_058072
28CASRp.Gly670ArgVAR_058074
29CASRp.Val728PheVAR_058076
30CASRp.Trp742ArgVAR_058077
31CASRp.Arg886TrpVAR_058084
32CASRp.Val697MetVAR_065494

Clinvar genetic disease variations for Hypocalciuric Hypercalcemia, Type I:

1 (show all 19)
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
5CASRCASR, ALU INS, CODON 877insertionPathogenic
6CASRNM_000388.3(CASR): c.115C> G (p.Pro39Ala)single nucleotide variantPathogenicrs121909262GRCh37Chr 3, 121973151: 121973151
7CASRCASR, ARG228GLNundetermined variantPathogenic
8CASRNM_000388.3(CASR): c.413C> T (p.Thr138Met)single nucleotide variantPathogenicrs121909263GRCh37Chr 3, 121976155: 121976155
9CASRNM_000388.3(CASR): c.428G> A (p.Gly143Glu)single nucleotide variantPathogenicrs121909264GRCh37Chr 3, 121976170: 121976170
10CASRNM_000388.3(CASR): c.185G> T (p.Arg62Met)single nucleotide variantPathogenicrs121909265GRCh37Chr 3, 121973221: 121973221
11CASRNM_000388.3(CASR): c.196C> T (p.Arg66Cys)single nucleotide variantPathogenicrs121909266GRCh37Chr 3, 121975938: 121975938
12CASRNM_000388.3(CASR): c.1942C> T (p.Arg648Ter)single nucleotide variantPathogenicrs104893705GRCh37Chr 3, 122002743: 122002743
13CASRCASR, IVS2AS, G-T, -1single nucleotide variantPathogenic
14CASRNM_000388.3(CASR): c.1394G> A (p.Arg465Gln)single nucleotide variantPathogenicrs104893716GRCh37Chr 3, 121994675: 121994675
15CASRNM_000388.3(CASR): c.38T> C (p.Leu13Pro)single nucleotide variantPathogenicrs104893717GRCh37Chr 3, 121973074: 121973074
16CASRNM_000388.3(CASR): c.539T> G (p.Phe180Cys)single nucleotide variantPathogenicrs121909268GRCh37Chr 3, 121980421: 121980421
17CASRNM_000388.3(CASR): c.1745G> T (p.Cys582Phe)single nucleotide variantPathogenicrs104893690GRCh37Chr 3, 122002546: 122002546
18CASRNM_000388.3(CASR): c.1657G> A (p.Gly553Arg)single nucleotide variantPathogenicrs104893719GRCh37Chr 3, 122001008: 122001008
19CASRNM_000388.3(CASR): c.680G> A (p.Arg227Gln)single nucleotide variantPathogenicrs28936684GRCh37Chr 3, 121980562: 121980562

Expression for genes affiliated with Hypocalciuric Hypercalcemia, Type I

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

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Pathways for genes affiliated with Hypocalciuric Hypercalcemia, Type I

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Compounds for genes affiliated with Hypocalciuric Hypercalcemia, Type I

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GO Terms for genes affiliated with Hypocalciuric Hypercalcemia, Type I

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Products for genes affiliated with Hypocalciuric Hypercalcemia, Type I

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hypocalciuric Hypercalcemia, Type I

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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