FBH
MCID: HYP314
MIFTS: 32

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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MalaCards based summary: Hypocalciuric Hypercalcemia, Type I, also known as hypocalciuric hypercalcemia, familial, type 1, is related to hypercalcemia and primary hyperparathyroidism, and has symptoms including An important gene associated with Hypocalciuric Hypercalcemia, Type I is CASR (calcium-sensing receptor), and among its related pathways are Gastrin-CREB signalling pathway via PKC and MAPK and Signaling by GPCR. Affiliated tissues include bone, and related mouse phenotypes are pigmentation and other.

Descriptions from OMIM:46 145980,145981,600740

Aliases & Classifications for Hypocalciuric Hypercalcemia, Type I

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Sources:
48Orphanet, 62UMLS, 46OMIM, 26ICD10 via Orphanet, 35MESH via Orphanet, 63UMLS via Orphanet
See all sources

Hypocalciuric Hypercalcemia, Type I, Aliases & Descriptions:

Name: Hypocalciuric Hypercalcemia, Type I 46
Hypocalciuric Hypercalcemia, Familial, Type 1 62
Familial Hypocalciuric Hypercalcemia Type 1 48
Familial Benign Hypocalciuric Hypercalcemia 48
Familial Hypocalciuric Hypercalcaemia 62
Familial Hypocalciuric Hypercalcemia 48
 
Hypercalcemia, Familial Benign 62
Familial Benign Hypercalcemia 48
Fhh Type 1 48
Fbhh 48
Fhh 48
Fbh 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
familial benign hypocalciuric hypercalcemia:
Inheritance: Autosomal dominant; Age of onset: Variable; Age of death: Normal
familial hypocalciuric hypercalcemia type 1:
Inheritance: Autosomal dominant


External Ids:

ICD10 via Orphanet26 E83.5
MESH via Orphanet35 C537145
UMLS via Orphanet63 C0342637, C1809471

Related Diseases for Hypocalciuric Hypercalcemia, Type I

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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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Symptoms by clinical synopsis from OMIM:

145980

Clinical features from OMIM:

145980,145981,600740

HPO human phenotypes related to Hypocalciuric Hypercalcemia, Type I:

(show all 7)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 nephrolithiasis HP:0000787
3 hyperparathyroidism HP:0000843
4 pancreatitis HP:0001733
5 hypermagnesemia HP:0002918
6 hypercalcemia HP:0003072
7 hypocalciuria HP:0003127

Drugs & Therapeutics for Hypocalciuric Hypercalcemia, Type I

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Drug clinical trials:

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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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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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MGI Mouse Phenotypes related to Hypocalciuric Hypercalcemia, Type I:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3CASR, GNA11
2MP:00053959.0CASR, GNA11

Publications for Hypocalciuric Hypercalcemia, Type I

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Variations for Hypocalciuric Hypercalcemia, Type I

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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:

6 (show all 24)
id Gene Name Type Significance SNP ID Assembly Location
1AP2S1NM_004069.4(AP2S1): c.43C> T (p.Arg15Cys)single nucleotide variantPathogenicrs397514498GRCh37Chr 19, 47349360: 47349360
2AP2S1NM_004069.4(AP2S1): c.44G> T (p.Arg15Leu)single nucleotide variantPathogenicrs397514499GRCh37Chr 19, 47349359: 47349359
3AP2S1NM_004069.4(AP2S1): c.44G> A (p.Arg15His)single nucleotide variantPathogenicrs397514499GRCh37Chr 19, 47349359: 47349359
4GNA11NM_002067.4(GNA11): c.598_600delATC (p.Ile200del)deletionPathogenicGRCh38Chr 19, 3115065: 3115067
5GNA11NM_002067.4(GNA11): c.404T> A (p.Leu135Gln)single nucleotide variantPathogenicGRCh37Chr 19, 3113410: 3113410
6CASRNM_000388.3(CASR): c.662C> A (p.Pro221Gln)single nucleotide variantPathogenicrs397514728GRCh37Chr 3, 121980544: 121980544
7CASRNM_000388.3(CASR): c.2383C> T (p.Arg795Trp)single nucleotide variantPathogenicrs121909258GRCh37Chr 3, 122003184: 122003184
8CASRNM_000388.3(CASR): c.889G> A (p.Glu297Lys)single nucleotide variantPathogenicrs121909259GRCh37Chr 3, 121980771: 121980771
9CASRNM_000388.3(CASR): c.554G> A (p.Arg185Gln)single nucleotide variantPathogenicrs104893689GRCh37Chr 3, 121980436: 121980436
10CASRCASR, ALU INS, CODON 877insertionPathogenic
11CASRNM_000388.3(CASR): c.115C> G (p.Pro39Ala)single nucleotide variantPathogenicrs121909262GRCh37Chr 3, 121973151: 121973151
12CASRCASR, ARG228GLNundetermined variantPathogenic
13CASRNM_000388.3(CASR): c.413C> T (p.Thr138Met)single nucleotide variantPathogenicrs121909263GRCh37Chr 3, 121976155: 121976155
14CASRNM_000388.3(CASR): c.428G> A (p.Gly143Glu)single nucleotide variantPathogenicrs121909264GRCh37Chr 3, 121976170: 121976170
15CASRNM_000388.3(CASR): c.185G> T (p.Arg62Met)single nucleotide variantPathogenicrs121909265GRCh37Chr 3, 121973221: 121973221
16CASRNM_000388.3(CASR): c.196C> T (p.Arg66Cys)single nucleotide variantPathogenicrs121909266GRCh37Chr 3, 121975938: 121975938
17CASRNM_000388.3(CASR): c.1942C> T (p.Arg648Ter)single nucleotide variantPathogenicrs104893705GRCh37Chr 3, 122002743: 122002743
18CASRCASR, IVS2AS, G-T, -1single nucleotide variantPathogenic
19CASRNM_000388.3(CASR): c.1394G> A (p.Arg465Gln)single nucleotide variantPathogenicrs104893716GRCh37Chr 3, 121994675: 121994675
20CASRNM_000388.3(CASR): c.38T> C (p.Leu13Pro)single nucleotide variantPathogenicrs104893717GRCh37Chr 3, 121973074: 121973074
21CASRNM_000388.3(CASR): c.539T> G (p.Phe180Cys)single nucleotide variantPathogenicrs121909268GRCh37Chr 3, 121980421: 121980421
22CASRNM_000388.3(CASR): c.1745G> T (p.Cys582Phe)single nucleotide variantPathogenicrs104893690GRCh37Chr 3, 122002546: 122002546
23CASRNM_000388.3(CASR): c.1657G> A (p.Gly553Arg)single nucleotide variantPathogenicrs104893719GRCh37Chr 3, 122001008: 122001008
24CASRNM_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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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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Pathways related to Hypocalciuric Hypercalcemia, Type I according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.3CASR, GNA11
2
Show member pathways
8.5CASR, AP2S1, GNA11

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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet