MCID: HYP314
MIFTS: 24

Hypocalciuric Hypercalcemia, Type I malady

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

Summaries for Hypocalciuric Hypercalcemia, Type I

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OMIM:45 Familial hypocalciuric hypercalcemia (HHC) is a heritable disorder of mineral homeostasis that is transmitted as an... (145980) more...

MalaCards based summary: Hypocalciuric Hypercalcemia, Type I, also known as hypocalciuric hypercalcemia, familial, type 1, is related to primary hyperparathyroidism and familial hypocalciuric hypercalcemia, and has symptoms including autosomal dominant inheritance, nephrolithiasis and hyperparathyroidism. An important gene associated with Hypocalciuric Hypercalcemia, Type I is CASR (calcium-sensing receptor). Affiliated tissues include bone.

Aliases & Classifications for Hypocalciuric Hypercalcemia, Type I

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 47Orphanet, 20GeneTests, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Hypocalciuric Hypercalcemia, Type I, Aliases & Descriptions:

Name: Hypocalciuric Hypercalcemia, Type I 45 10
Hypocalciuric Hypercalcemia, Familial, Type 1 41 20 60
Familial Hypocalciuric Hypercalcemia Type 1 41 47
Hypocalciuric Hypercalcemia, Familial, Type I 45
Hypercalcemia, Familial Benign Type 1 41
 
Familial Benign Hypercalcemia Type 1 41
Fhh Type 1 47
Hhc1 41
Fhh1 41
Fbh1 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
familial hypocalciuric hypercalcemia type 1:
Inheritance: Autosomal dominant


External Ids:

OMIM45 145980
Orphanet47 93372
MESH via Orphanet34 C537145
ICD10 via Orphanet26 E83.5
UMLS via Orphanet61 C0342637, C1809471

Related Diseases for Hypocalciuric Hypercalcemia, Type I

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Diseases in the Familial Hypocalciuric Hypercalcemia family:

Hypocalciuric Hypercalcemia, Familial, Type Iii hypocalciuric hypercalcemia, type i
Hypocalciuric Hypercalcemia, Type Ii

Diseases related to Hypocalciuric Hypercalcemia, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1primary hyperparathyroidism10.4
2familial hypocalciuric hypercalcemia10.4
3hypercalcemia10.2
4melanoma10.1

Symptoms for Hypocalciuric Hypercalcemia, Type I

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Symptoms by clinical synopsis from OMIM:

145980

Clinical features from OMIM:

145980

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:

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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Genetic tests related to Hypocalciuric Hypercalcemia, Type I:

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

Anatomical Context for Hypocalciuric Hypercalcemia, Type I

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

31
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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UniProtKB/Swiss-Prot 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

Clinvar genetic disease variations for Hypocalciuric Hypercalcemia, Type I:

6 (show all 19)
id Gene Variation 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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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
  • Proteins
  • Kits and Assays

Sources for Hypocalciuric Hypercalcemia, Type I

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet