MCID: HYP314
MIFTS: 33

Hypocalciuric Hypercalcemia, Type I malady

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

Aliases & Classifications for Hypocalciuric Hypercalcemia, Type I

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Sources:
11Disease Ontology, 12diseasecard, 24GeneTests, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Hypocalciuric Hypercalcemia, Type I:

Name: Hypocalciuric Hypercalcemia, Type I 51 12
Familial Benign Hypercalcemia 1 11 24 69
Fhh Type 1 11 47 53
Hhc1 11 47 69
Fhh1 47 24 69
Fbh1 47 24 69
Hypocalciuric Hypercalcemia, Familial, Type 1 47 67
Familial Hypocalciuric Hypercalcemia Type 1 47 53
Hypocalciuric Hypercalcemia, Familial 1 69 26
 
Hypocalciuric Hypercalcemia Type I 11 69
Hypocalciuric Hypercalcemia, Familial, Type I 51
Familial Benign Hypocalciuric Hypercalcemia 1 69
Familial Hypocalciuric Hypercalcemia, Type I 24
Familial Hypocalciuric Hypercalcemia Type I 11
Familial Hypocalciuric Hypercalcemia 1 11
Hypercalcemia, Familial Benign Type 1 47
Familial Benign Hypercalcemia Type 1 47
Fbhh1 69

Characteristics:

Orphanet epidemiological data:

53
fhh type 1:
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (United Kingdom); Age of onset: All ages; Age of death: normal life expectancy

HPO:

63
hypocalciuric hypercalcemia, type i:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 145980
Disease Ontology11 DOID:0060700
ICD1029 E83.5
Orphanet53 ORPHA93372
MESH via Orphanet39 C537145
UMLS via Orphanet68 C0342637, C1809471
ICD10 via Orphanet30 E83.5
MeSH38 D006934

Summaries for Hypocalciuric Hypercalcemia, Type I

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OMIM:51 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 familial benign hypercalcemia 1, is related to hyperparathyroidism, familial primary and hyperparathyroidism, and has symptoms including nephrolithiasis, hyperparathyroidism and pancreatitis. An important gene associated with Hypocalciuric Hypercalcemia, Type I is CASR (Calcium Sensing Receptor). Affiliated tissues include liver and bone.

Disease Ontology:11 A familial hypocalciuric hypercalcemia that has material basis in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21.

UniProtKB/Swiss-Prot:69 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
1hyperparathyroidism, familial primary11.2
2hyperparathyroidism10.0
3familial hypocalciuric hypercalcemia9.9

Symptoms for Hypocalciuric Hypercalcemia, Type I

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Symptoms by clinical synopsis from OMIM:

145980

Clinical features from OMIM:

145980

Human phenotypes related to Hypocalciuric Hypercalcemia, Type I:

 63 (show all 6)
id Description HPO Frequency HPO Source Accession
1 nephrolithiasis63 HP:0000787
2 hyperparathyroidism63 HP:0000843
3 pancreatitis63 HP:0001733
4 hypermagnesemia63 HP:0002918
5 hypercalcemia63 HP:0003072
6 hypocalciuria63 HP:0003127

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
Somatostatinapproved22938916-34-6, 51110-01-153481605
Synonyms:
growth hormone-inhibiting hormone (GHIH)
 
somatotropin release-inhibiting factor (SRIF)
somatotropin release-inhibiting hormone
2Liver Extracts3868
3Insulin, Globin Zinc4523
4insulin4524
5Calcium, Dietary5525

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 Hypocalciuric Hypercalcemia, Familial, Type 126
2 Familial Hypocalciuric Hypercalcemia, Type I24 CASR

Anatomical Context for Hypocalciuric Hypercalcemia, Type I

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

35
Liver, 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:

69 (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)SNVPathogenicrs397514728GRCh37Chr 3, 121980544: 121980544
2CASRNM_000388.3(CASR): c.2383C> T (p.Arg795Trp)SNVPathogenicrs121909258GRCh37Chr 3, 122003184: 122003184
3CASRNM_000388.3(CASR): c.889G> A (p.Glu297Lys)SNVPathogenicrs121909259GRCh37Chr 3, 121980771: 121980771
4CASRNM_000388.3(CASR): c.554G> A (p.Arg185Gln)SNVPathogenicrs104893689GRCh37Chr 3, 121980436: 121980436
5CASRCASR, ALU INS, CODON 877insertionPathogenicChr na, -1: -1
6CASRNM_000388.3(CASR): c.115C> G (p.Pro39Ala)SNVPathogenicrs121909262GRCh37Chr 3, 121973151: 121973151
7CASRNM_000388.3(CASR): c.680G> A (p.Arg227Gln)SNVPathogenicrs28936684GRCh37Chr 3, 121980562: 121980562
8CASRNM_000388.3(CASR): c.413C> T (p.Thr138Met)SNVPathogenicrs121909263GRCh37Chr 3, 121976155: 121976155
9CASRNM_000388.3(CASR): c.428G> A (p.Gly143Glu)SNVPathogenicrs121909264GRCh37Chr 3, 121976170: 121976170
10CASRNM_000388.3(CASR): c.185G> T (p.Arg62Met)SNVPathogenicrs121909265GRCh37Chr 3, 121973221: 121973221
11CASRNM_000388.3(CASR): c.196C> T (p.Arg66Cys)SNVPathogenicrs121909266GRCh37Chr 3, 121975938: 121975938
12CASRNM_000388.3(CASR): c.1942C> T (p.Arg648Ter)SNVPathogenicrs104893705GRCh37Chr 3, 122002743: 122002743
13CASRNM_000388.3(CASR): c.186-1G> TSNVPathogenicrs797044441GRCh37Chr 3, 121975927: 121975927
14CASRNM_000388.3(CASR): c.1394G> A (p.Arg465Gln)SNVPathogenicrs104893716GRCh37Chr 3, 121994675: 121994675
15CASRNM_000388.3(CASR): c.38T> C (p.Leu13Pro)SNVPathogenicrs104893717GRCh37Chr 3, 121973074: 121973074
16CASRNM_000388.3(CASR): c.539T> G (p.Phe180Cys)SNVPathogenicrs121909268GRCh37Chr 3, 121980421: 121980421
17CASRNM_000388.3(CASR): c.1745G> T (p.Cys582Phe)SNVPathogenicrs104893690GRCh37Chr 3, 122002546: 122002546
18CASRNM_000388.3(CASR): c.1657G> A (p.Gly553Arg)SNVPathogenicrs104893719GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet