FBH
MCID: HYP314
MIFTS: 20

Hypocalciuric Hypercalcemia, Type I (FBH) malady

Respiratory, Bone, Endocrine, Fetal, Genetic categories

Summaries for Hypocalciuric Hypercalcemia, Type I

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

Description from OMIM:47 145980,145981,600740

Aliases & Classifications for Hypocalciuric Hypercalcemia, Type I

Sources:
49Orphanet, 61UMLS, 47OMIM, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 36MESH via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Genetic
Anatomical: Respiratory, Bone, Endocrine


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 61
hypocalciuric hypercalcemia, familial, type 1 61
familial benign hypocalciuric hypercalcemia 49
familial hypocalciuric hypercalcemia type 1 49
familial hypocalciuric hypercalcemia 49
fhh type 1 49
fbhh 49
fhh 49
fbh 49


External Ids:

ICD10 via Orphanet26 E83.5
SNOMED-CT via Orphanet58 237885008, 190868007
MESH via Orphanet36 C537145
UMLS via Orphanet62 C0342637, C1809471

Related Diseases for Hypocalciuric Hypercalcemia, Type I

Sources:
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

Clinical Features for Hypocalciuric Hypercalcemia, Type I

Sources:
47OMIM
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Clinical features from OMIM:

145980,145981,600740

Clinical synopsis from OMIM:

145980

Drugs & Therapeutics for Hypocalciuric Hypercalcemia, Type I

Sources:
5CenterWatch, 42NIH 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

Anatomical Context for Hypocalciuric Hypercalcemia, Type I

Animal Models for Hypocalciuric Hypercalcemia, Type I or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Hypocalciuric Hypercalcemia, Type I

Sources:
51PubMed
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Articles related to Hypocalciuric Hypercalcemia, Type I:

idTitleAuthorsYear
1
Identification of a second kindred with familial hypocalciuric hypercalcemia type 3 (FHH3) narrows localization to a <3.5 megabase pair region on chromosome 19q13.3. (20133464)
2010

Genetic Variations for Hypocalciuric Hypercalcemia, Type I

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Hypocalciuric Hypercalcemia, Type I:

63 (show all 32)
id Symbol AA change Variation 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

Sources:
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

Compounds for genes affiliated with Hypocalciuric Hypercalcemia, Type I

GO Terms for genes affiliated with Hypocalciuric Hypercalcemia, Type I

Products for genes affiliated with Hypocalciuric Hypercalcemia, Type I

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hypocalciuric Hypercalcemia, Type I

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet