HHC1
MCID: HYP314
MIFTS: 38

Hypocalciuric Hypercalcemia, Type I (HHC1) 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, 13DISEASES, 24GeneTests, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Hypocalciuric Hypercalcemia, Type I:

Name: Hypocalciuric Hypercalcemia, Type I 52 12
Familial Benign Hypercalcemia 1 11 24 70
Fhh Type 1 11 48 54
Hhc1 11 48 70
Fhh1 48 24 70
Fbh1 48 24 70
Hypocalciuric Hypercalcemia, Familial, Type 1 48 68
Familial Hypocalciuric Hypercalcemia Type 1 48 54
Hypocalciuric Hypercalcemia, Familial 1 70 27
 
Familial Hypocalciuric Hypercalcemia 1 11 13
Hypocalciuric Hypercalcemia Type I 11 70
Hypocalciuric Hypercalcemia, Familial, Type I 52
Familial Benign Hypocalciuric Hypercalcemia 1 70
Familial Hypocalciuric Hypercalcemia, Type I 24
Familial Hypocalciuric Hypercalcemia Type I 11
Hypercalcemia, Familial Benign Type 1 48
Familial Benign Hypercalcemia Type 1 48
Fbhh1 70

Characteristics:

Orphanet epidemiological data:

54
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:

64
hypocalciuric hypercalcemia, type i:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 145980
Disease Ontology11 DOID:0060700
ICD1030 E83.5
Orphanet54 ORPHA93372
MESH via Orphanet40 C537145
UMLS via Orphanet69 C0342637, C1809471
ICD10 via Orphanet31 E83.5
MeSH39 D006934

Summaries for Hypocalciuric Hypercalcemia, Type I

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OMIM:52 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), and among its related pathways is Ca, cAMP and Lipid Signaling. Affiliated tissues include bone, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and pigmentation.

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:70 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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Graphical network of diseases related to Hypocalciuric Hypercalcemia, Type I:



Diseases related to hypocalciuric hypercalcemia, type i

Symptoms & Phenotypes 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:

 64 (show all 6)
id Description HPO Frequency HPO Source Accession
1 nephrolithiasis64 HP:0000787
2 hyperparathyroidism64 HP:0000843
3 pancreatitis64 HP:0001733
4 hypermagnesemia64 HP:0002918
5 hypercalcemia64 HP:0003072
6 hypocalciuria64 HP:0003127

GenomeRNAi Phenotypes related to Hypocalciuric Hypercalcemia, Type I according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-19210.0CASR, GNA11

MGI Mouse Phenotypes related to Hypocalciuric Hypercalcemia, Type I according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3CASR, GNA11

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
Somatostatinapproved23738916-34-6, 51110-01-153481605
Synonyms:
growth hormone-inhibiting hormone (GHIH)
 
somatotropin release-inhibiting factor (SRIF)
somatotropin release-inhibiting hormone
2Liver Extracts4067
3Insulin, Globin Zinc4645
4insulin4646
5Calcium, Dietary5713

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 127
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:

36
Bone

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:

70 (show all 62)
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.Cys582TyrVAR_003597
11CASRp.Arg795TrpVAR_003599
12CASRp.Gly557GluVAR_012649
13CASRp.Leu11SerVAR_058046
14CASRp.Leu13ProVAR_058047
15CASRp.Gly21ArgVAR_058049
16CASRp.Ser171AsnVAR_058056
17CASRp.Phe180CysVAR_058057
18CASRp.Pro221GlnVAR_058059
19CASRp.Lys225ThrVAR_058060
20CASRp.Ser271PheVAR_058062
21CASRp.Gly397ArgVAR_058063
22CASRp.Arg465GlnVAR_058064
23CASRp.Gly509ArgVAR_058065rs193922423
24CASRp.Gly553ArgVAR_058066
25CASRp.Ile555ValVAR_058067
26CASRp.Cys562TyrVAR_058068
27CASRp.Cys582PheVAR_058069
28CASRp.Gly623AspVAR_058072
29CASRp.Gly670ArgVAR_058074
30CASRp.Val728PheVAR_058076
31CASRp.Trp742ArgVAR_058077
32CASRp.Arg886TrpVAR_058084
33CASRp.Val697MetVAR_065494
34CASRp.Phe42SerVAR_078139
35CASRp.Ser53ProVAR_078140
36CASRp.Pro55LeuVAR_078141
37CASRp.Arg66HisVAR_078142
38CASRp.Ile81MetVAR_078143
39CASRp.Ala110ThrVAR_078144
40CASRp.Gly143ArgVAR_078149
41CASRp.Gly158ArgVAR_078150
42CASRp.Leu159ProVAR_078151
43CASRp.Ser166GlyVAR_078152
44CASRp.Arg172GlyVAR_078153
45CASRp.Asn178AspVAR_078154
46CASRp.Asp215GlyVAR_078155
47CASRp.Arg220TrpVAR_078156
48CASRp.Pro221SerVAR_078158
49CASRp.Gln459ArgVAR_078160
50CASRp.Gly549ArgVAR_078161
51CASRp.Thr550IleVAR_078162
52CASRp.Cys565GlyVAR_078164
53CASRp.Gly571TrpVAR_078166
54CASRp.Ser657TyrVAR_078168
55CASRp.Cys661TyrVAR_078169
56CASRp.Arg680HisVAR_078170
57CASRp.Glu707ValVAR_078172
58CASRp.Pro748ArgVAR_078173
59CASRp.Gly774SerVAR_078175
60CASRp.Asn802SerVAR_078177
61CASRp.Val817IleVAR_078178
62CASRp.Thr972MetVAR_078183

Clinvar genetic disease variations for Hypocalciuric Hypercalcemia, Type I:

5 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1CASRNM_ 000388.3(CASR): c.73C> T (p.Arg25Ter)SNVPathogenicrs201633414GRCh37Chr 3, 121973109: 121973109
2CASRNM_ 000388.3(CASR): c.164_ 165delCGinsTT (p.Pro55Leu)indelPathogenicrs1060502847GRCh38Chr 3, 122254353: 122254354
3CASRNM_ 000388.3(CASR): c.2038C> T (p.Arg680Cys)SNVLikely pathogenicrs767363250GRCh38Chr 3, 122283992: 122283992
4CASRNM_ 000388.3(CASR): c.662C> A (p.Pro221Gln)SNVPathogenicrs397514728GRCh37Chr 3, 121980544: 121980544
5CASRNM_ 000388.3(CASR): c.2383C> T (p.Arg795Trp)SNVPathogenicrs121909258GRCh37Chr 3, 122003184: 122003184
6CASRNM_ 000388.3(CASR): c.889G> A (p.Glu297Lys)SNVPathogenicrs121909259GRCh37Chr 3, 121980771: 121980771
7CASRNM_ 000388.3(CASR): c.554G> A (p.Arg185Gln)SNVPathogenicrs104893689GRCh37Chr 3, 121980436: 121980436
8CASRCASR, ALU INS, CODON 877insertionPathogenic
9CASRNM_ 000388.3(CASR): c.115C> G (p.Pro39Ala)SNVPathogenicrs121909262GRCh37Chr 3, 121973151: 121973151
10CASRNM_ 000388.3(CASR): c.680G> A (p.Arg227Gln)SNVPathogenicrs28936684GRCh37Chr 3, 121980562: 121980562
11CASRNM_ 000388.3(CASR): c.413C> T (p.Thr138Met)SNVPathogenicrs121909263GRCh37Chr 3, 121976155: 121976155
12CASRNM_ 000388.3(CASR): c.428G> A (p.Gly143Glu)SNVPathogenicrs121909264GRCh37Chr 3, 121976170: 121976170
13CASRNM_ 000388.3(CASR): c.185G> T (p.Arg62Met)SNVPathogenicrs121909265GRCh37Chr 3, 121973221: 121973221
14CASRNM_ 000388.3(CASR): c.196C> T (p.Arg66Cys)SNVPathogenicrs121909266GRCh37Chr 3, 121975938: 121975938
15CASRNM_ 000388.3(CASR): c.1942C> T (p.Arg648Ter)SNVPathogenicrs104893705GRCh37Chr 3, 122002743: 122002743
16CASRNM_ 000388.3(CASR): c.186-1G> TSNVPathogenicrs797044441GRCh37Chr 3, 121975927: 121975927
17CASRNM_ 000388.3(CASR): c.38T> C (p.Leu13Pro)SNVPathogenicrs104893717GRCh37Chr 3, 121973074: 121973074
18CASRNM_ 000388.3(CASR): c.539T> G (p.Phe180Cys)SNVPathogenicrs121909268GRCh37Chr 3, 121980421: 121980421
19CASRNM_ 000388.3(CASR): c.1745G> T (p.Cys582Phe)SNVPathogenicrs104893690GRCh37Chr 3, 122002546: 122002546
20CASRNM_ 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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Pathways related to Hypocalciuric Hypercalcemia, Type I according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.3CASR, GNA11

GO Terms for genes affiliated with Hypocalciuric Hypercalcemia, Type I

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Molecular functions related to Hypocalciuric Hypercalcemia, Type I according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1signal transducer activityGO:00048719.3CASR, GNA11

Sources for Hypocalciuric Hypercalcemia, Type I

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet