FBH
MCID: HYP314
MIFTS: 32

Hypocalciuric Hypercalcemia, Type I (FBH) malady

Respiratory diseases, Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases categories

Summaries for Hypocalciuric Hypercalcemia, Type I

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46OMIM, 32MalaCards
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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:46 145980,145981,600740

Aliases & Classifications for Hypocalciuric Hypercalcemia, Type I

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Sources:
48Orphanet, 60UMLS, 46OMIM, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 35MESH via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
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 46
familial benign hypercalcemia 48 60
hypocalciuric hypercalcemia, familial, type 1 60
familial benign hypocalciuric hypercalcemia 48
familial hypocalciuric hypercalcemia type 1 48
familial hypocalciuric hypercalcemia 48
fhh type 1 48
fbhh 48
fhh 48
fbh 48


External Ids:

SNOMED-CT via Orphanet57 190868007, 237885008
ICD10 via Orphanet26 E83.5
MESH via Orphanet35 C537145
UMLS via Orphanet61 C0342637, C1809471

Related Diseases for Hypocalciuric Hypercalcemia, Type I

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



Diseases related to hypocalciuric hypercalcemia, type i

Clinical Features for Hypocalciuric Hypercalcemia, Type I

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46OMIM
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Clinical features from OMIM:

145980,145981,600740

Clinical synopsis from OMIM:

145980

Drugs & Therapeutics for Hypocalciuric Hypercalcemia, Type I

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Hypocalciuric Hypercalcemia, Type I

Drug clinical trials:

Search ClinicalTrials for Hypocalciuric Hypercalcemia, Type I

Search NIH Clinical Center for Hypocalciuric Hypercalcemia, Type I

Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Hypocalciuric Hypercalcemia, Type I:

32
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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Genetic Variations for Hypocalciuric Hypercalcemia, Type I

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Hypocalciuric Hypercalcemia, Type I:

62 (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

Expression for genes affiliated with Hypocalciuric Hypercalcemia, Type I

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

Search GEO for disease gene expression data for Hypocalciuric Hypercalcemia, Type I.

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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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