MCID: HYP314
MIFTS: 31

Hypocalciuric Hypercalcemia, Type I malady

Categories: Genetic diseases, Rare diseases, Respiratory diseases, Bone diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Hypocalciuric Hypercalcemia, Type I

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 51Orphanet, 22GeneTests, 67UniProtKB/Swiss-Prot, 65UMLS, 24GTR, 37MESH via Orphanet, 66UMLS via Orphanet, 28ICD10 via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Hypocalciuric Hypercalcemia, Type I:

Name: Hypocalciuric Hypercalcemia, Type I 49 11
Fbh1 45 22 67
Fhh1 45 22 67
Hypocalciuric Hypercalcemia, Familial, Type 1 45 65
Familial Hypocalciuric Hypercalcemia Type 1 45 51
Hypocalciuric Hypercalcemia, Familial 1 67 24
Familial Benign Hypercalcemia 1 22 67
Hhc1 45 67
 
Familial Benign Hypocalciuric Hypercalcemia 1 67
Familial Hypocalciuric Hypercalcemia, Type I 22
Hypercalcemia, Familial Benign Type 1 45
Familial Benign Hypercalcemia Type 1 45
Hypocalciuric Hypercalcemia Type I 67
Fhh Type 1 51
Fbhh1 67

Characteristics:

Orphanet epidemiological data:

51
familial hypocalciuric hypercalcemia type 1:
Inheritance: Autosomal dominant

HPO:

61
hypocalciuric hypercalcemia, type i:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 145980
Orphanet51 93372
MESH via Orphanet37 C537145
UMLS via Orphanet66 C0342637, C1809471
ICD10 via Orphanet28 E83.5
MeSH36 D006934
UMLS65 C0342637

Summaries for Hypocalciuric Hypercalcemia, Type I

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OMIM:49 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 fbh1, is related to primary hyperparathyroidism and hypercalcemia, and has symptoms including hypocalciuria, hypercalcemia and hypermagnesemia. An important gene associated with Hypocalciuric Hypercalcemia, Type I is CASR (Calcium Sensing Receptor). Affiliated tissues include bone, liver and spinal cord.

UniProtKB/Swiss-Prot:67 Hypocalciuric hypercalcemia, familial 1: A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults.

Related Diseases for Hypocalciuric Hypercalcemia, Type I

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Diseases in the Familial Hypocalciuric Hypercalcemia family:

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

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

idRelated DiseaseScoreTop Affiliating Genes
1primary hyperparathyroidism10.1
2hypercalcemia10.1
3hyperparathyroidism10.1
4familial hypocalciuric hypercalcemia10.1
5melanoma10.0

Graphical network of 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

HPO human phenotypes related to Hypocalciuric Hypercalcemia, Type I:

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

Drugs & Therapeutics for Hypocalciuric Hypercalcemia, Type I

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Drugs for Hypocalciuric Hypercalcemia, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Somatostatin15351110-01-153481605
Synonyms:
growth hormone-inhibiting hormone (GHIH)
 
somatotropin release-inhibiting factor (SRIF)
somatotropin release-inhibiting hormone
2Liver Extracts3572
3Insulin, Globin Zinc4278
4insulin4278
5Calcium, Dietary4678

Interventional clinical trials:

idNameStatusNCT IDPhase
1Studies of Inherited Diseases of MetabolismRecruitingNCT00001345
2Lipid and Glycogen Metabolism in Patients With Impaired Glucose Tolerance and Calcium Sensing Receptor MutationsRecruitingNCT02023489

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 I22 CASR

Anatomical Context for Hypocalciuric Hypercalcemia, Type I

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

33
Bone, Liver, Spinal cord, Thyroid

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:

67 (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:

5 (show all 18)
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
7CASRNM_000388.3(CASR): c.680G> A (p.Arg227Gln)single nucleotide variantPathogenicrs28936684GRCh37Chr 3, 121980562: 121980562
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
13CASRNM_000388.3(CASR): c.186-1G> Tsingle nucleotide variantPathogenicrs797044441GRCh37Chr 3, 121975927: 121975927
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

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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GO Terms for genes affiliated with Hypocalciuric Hypercalcemia, Type I

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Sources for Hypocalciuric Hypercalcemia, Type I

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet