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

Aliases & Descriptions for Hypocalciuric Hypercalcemia, Type I:

Name: Hypocalciuric Hypercalcemia, Type I 54 13
Familial Benign Hypercalcemia 1 12 24 66
Fhh Type 1 12 50 56
Hhc1 12 50 66
Fbh1 50 24 66
Fhh1 50 24 66
Hypocalciuric Hypercalcemia, Familial, Type 1 50 69
Familial Hypocalciuric Hypercalcemia Type 1 50 56
Hypocalciuric Hypercalcemia, Familial 1 66 29
Familial Hypocalciuric Hypercalcemia 1 12 14
Hypocalciuric Hypercalcemia Type I 12 66
Hypocalciuric Hypercalcemia, Familial, Type I 54
Familial Benign Hypocalciuric Hypercalcemia 1 66
Familial Hypocalciuric Hypercalcemia, Type I 24
Familial Hypocalciuric Hypercalcemia Type I 12
Hypercalcemia, Familial Benign Type 1 50
Familial Benign Hypercalcemia Type 1 50
Fbhh1 66

Characteristics:

Orphanet epidemiological data:

56
familial hypocalciuric hypercalcemia 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:

32
hypocalciuric hypercalcemia, type i:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 145980
Disease Ontology 12 DOID:0060700
ICD10 33 E83.5
Orphanet 56 ORPHA93372
MESH via Orphanet 43 C537145
UMLS via Orphanet 70 C0342637 C1809471
ICD10 via Orphanet 34 E83.5
MeSH 42 D006934

Summaries for Hypocalciuric Hypercalcemia, Type I

OMIM : 54 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 pancreatitis, nephrolithiasis and hyperparathyroidism. An important gene associated with Hypocalciuric Hypercalcemia, Type I is CASR (Calcium Sensing Receptor), and among its related pathways/superpathways is Ca, cAMP and Lipid Signaling. The drugs Somatostatin and insulin have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are Increased shRNA abundance (Z-score > 2) and pigmentation

Disease Ontology : 12 A familial hypocalciuric hypercalcemia that has material basis in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21.

UniProtKB/Swiss-Prot : 66 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

Graphical network of the top 20 diseases related to Hypocalciuric Hypercalcemia, Type I:



Diseases related to Hypocalciuric Hypercalcemia, Type I

Symptoms & Phenotypes for Hypocalciuric Hypercalcemia, Type I

Symptoms by clinical synopsis from OMIM:

145980

Clinical features from OMIM:

145980

Human phenotypes related to Hypocalciuric Hypercalcemia, Type I:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 pancreatitis 32 HP:0001733
2 nephrolithiasis 32 HP:0000787
3 hyperparathyroidism 32 HP:0000843
4 hypercalcemia 32 HP:0003072
5 hypocalciuria 32 HP:0003127
6 hypermagnesemia 32 HP:0002918

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.4 CASR
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.4 GNA11
3 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.4 GNA11
4 Increased shRNA abundance (Z-score > 2) GR00366-A-131 9.4 GNA11
5 Increased shRNA abundance (Z-score > 2) GR00366-A-132 9.4 CASR
6 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.4 GNA11 CASR
7 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.4 GNA11
8 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.4 CASR
9 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.4 GNA11
10 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.4 GNA11
11 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.4 CASR

MGI Mouse Phenotypes related to Hypocalciuric Hypercalcemia, Type I:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.62 CASR GNA11

Drugs & Therapeutics for Hypocalciuric Hypercalcemia, Type I

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


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Somatostatin Approved 38916-34-6, 51110-01-1 53481605
2 insulin
3 Insulin, Globin Zinc
4 Liver Extracts
5 Calcium, Dietary

Interventional clinical trials:


id Name Status NCT ID Phase
1 Studies of Inherited Diseases of Metabolism Recruiting NCT00001345
2 Lipid and Glycogen Metabolism in Patients With Impaired Glucose Tolerance and Calcium Sensing Receptor Mutations Recruiting NCT02023489

Search NIH Clinical Center for Hypocalciuric Hypercalcemia, Type I

Genetic Tests for Hypocalciuric Hypercalcemia, Type I

Genetic tests related to Hypocalciuric Hypercalcemia, Type I:

id Genetic test Affiliating Genes
1 Hypocalciuric Hypercalcemia, Familial, Type 1 29
2 Familial Hypocalciuric Hypercalcemia, Type I 24 CASR

Anatomical Context for Hypocalciuric Hypercalcemia, Type I

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

39
Bone

Publications for Hypocalciuric Hypercalcemia, Type I

Variations for Hypocalciuric Hypercalcemia, Type I

UniProtKB/Swiss-Prot genetic disease variations for Hypocalciuric Hypercalcemia, Type I:

66 (show top 50) (show all 62)
id Symbol AA change Variation ID SNP ID
1 CASR p.Pro39Ala VAR_003585
2 CASR p.Arg62Met VAR_003586
3 CASR p.Arg66Cys VAR_003587
4 CASR p.Thr138Met VAR_003590
5 CASR p.Gly143Glu VAR_003591
6 CASR p.Leu174Arg VAR_003592
7 CASR p.Arg185Gln VAR_003593
8 CASR p.Arg227Gln VAR_003595
9 CASR p.Glu297Lys VAR_003596
10 CASR p.Cys582Tyr VAR_003597
11 CASR p.Arg795Trp VAR_003599
12 CASR p.Gly557Glu VAR_012649
13 CASR p.Leu11Ser VAR_058046
14 CASR p.Leu13Pro VAR_058047
15 CASR p.Gly21Arg VAR_058049
16 CASR p.Ser171Asn VAR_058056
17 CASR p.Phe180Cys VAR_058057
18 CASR p.Pro221Gln VAR_058059
19 CASR p.Lys225Thr VAR_058060
20 CASR p.Ser271Phe VAR_058062
21 CASR p.Gly397Arg VAR_058063
22 CASR p.Arg465Gln VAR_058064
23 CASR p.Gly509Arg VAR_058065 rs193922423
24 CASR p.Gly553Arg VAR_058066
25 CASR p.Ile555Val VAR_058067
26 CASR p.Cys562Tyr VAR_058068
27 CASR p.Cys582Phe VAR_058069
28 CASR p.Gly623Asp VAR_058072
29 CASR p.Gly670Arg VAR_058074
30 CASR p.Val728Phe VAR_058076
31 CASR p.Trp742Arg VAR_058077
32 CASR p.Arg886Trp VAR_058084
33 CASR p.Val697Met VAR_065494
34 CASR p.Phe42Ser VAR_078139
35 CASR p.Ser53Pro VAR_078140
36 CASR p.Pro55Leu VAR_078141
37 CASR p.Arg66His VAR_078142
38 CASR p.Ile81Met VAR_078143
39 CASR p.Ala110Thr VAR_078144
40 CASR p.Gly143Arg VAR_078149
41 CASR p.Gly158Arg VAR_078150
42 CASR p.Leu159Pro VAR_078151
43 CASR p.Ser166Gly VAR_078152
44 CASR p.Arg172Gly VAR_078153
45 CASR p.Asn178Asp VAR_078154
46 CASR p.Asp215Gly VAR_078155
47 CASR p.Arg220Trp VAR_078156
48 CASR p.Pro221Ser VAR_078158
49 CASR p.Gln459Arg VAR_078160
50 CASR p.Gly549Arg VAR_078161

ClinVar genetic disease variations for Hypocalciuric Hypercalcemia, Type I:

6 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1 CASR NM_000388.3(CASR): c.2383C> T (p.Arg795Trp) single nucleotide variant Pathogenic rs121909258 GRCh37 Chromosome 3, 122003184: 122003184
2 CASR NM_000388.3(CASR): c.889G> A (p.Glu297Lys) single nucleotide variant Pathogenic rs121909259 GRCh37 Chromosome 3, 121980771: 121980771
3 CASR NM_000388.3(CASR): c.554G> A (p.Arg185Gln) single nucleotide variant Pathogenic rs104893689 GRCh37 Chromosome 3, 121980436: 121980436
4 CASR CASR, ALU INS, CODON 877 insertion Pathogenic
5 CASR NM_000388.3(CASR): c.115C> G (p.Pro39Ala) single nucleotide variant Pathogenic rs121909262 GRCh37 Chromosome 3, 121973151: 121973151
6 CASR NM_000388.3(CASR): c.680G> A (p.Arg227Gln) single nucleotide variant Pathogenic rs28936684 GRCh37 Chromosome 3, 121980562: 121980562
7 CASR NM_000388.3(CASR): c.413C> T (p.Thr138Met) single nucleotide variant Pathogenic rs121909263 GRCh37 Chromosome 3, 121976155: 121976155
8 CASR NM_000388.3(CASR): c.428G> A (p.Gly143Glu) single nucleotide variant Pathogenic rs121909264 GRCh37 Chromosome 3, 121976170: 121976170
9 CASR NM_000388.3(CASR): c.185G> T (p.Arg62Met) single nucleotide variant Pathogenic rs121909265 GRCh37 Chromosome 3, 121973221: 121973221
10 CASR NM_000388.3(CASR): c.196C> T (p.Arg66Cys) single nucleotide variant Pathogenic rs121909266 GRCh37 Chromosome 3, 121975938: 121975938
11 CASR NM_000388.3(CASR): c.1942C> T (p.Arg648Ter) single nucleotide variant Pathogenic rs104893705 GRCh37 Chromosome 3, 122002743: 122002743
12 CASR NM_000388.3(CASR): c.186-1G> T single nucleotide variant Pathogenic rs797044441 GRCh37 Chromosome 3, 121975927: 121975927
13 CASR NM_000388.3(CASR): c.38T> C (p.Leu13Pro) single nucleotide variant Pathogenic rs104893717 GRCh37 Chromosome 3, 121973074: 121973074
14 CASR NM_000388.3(CASR): c.539T> G (p.Phe180Cys) single nucleotide variant Pathogenic rs121909268 GRCh37 Chromosome 3, 121980421: 121980421
15 CASR NM_000388.3(CASR): c.1745G> T (p.Cys582Phe) single nucleotide variant Pathogenic rs104893690 GRCh37 Chromosome 3, 122002546: 122002546
16 CASR NM_000388.3(CASR): c.1657G> A (p.Gly553Arg) single nucleotide variant Pathogenic rs104893719 GRCh37 Chromosome 3, 122001008: 122001008
17 CASR NM_000388.3(CASR): c.662C> A (p.Pro221Gln) single nucleotide variant Pathogenic rs397514728 GRCh37 Chromosome 3, 121980544: 121980544
18 CASR NM_000388.3(CASR): c.73C> T (p.Arg25Ter) single nucleotide variant Pathogenic rs201633414 GRCh37 Chromosome 3, 121973109: 121973109
19 CASR NM_000388.3(CASR): c.2038C> T (p.Arg680Cys) single nucleotide variant Likely pathogenic rs767363250 GRCh38 Chromosome 3, 122283992: 122283992
20 CASR NM_000388.3(CASR): c.164_165delCGinsTT (p.Pro55Leu) indel Pathogenic rs1060502847 GRCh38 Chromosome 3, 122254353: 122254354

Expression for Hypocalciuric Hypercalcemia, Type I

Search GEO for disease gene expression data for Hypocalciuric Hypercalcemia, Type I.

Pathways for Hypocalciuric Hypercalcemia, Type I

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

id Super pathways Score Top Affiliating Genes
1 10.72 CASR GNA11

GO Terms for Hypocalciuric Hypercalcemia, Type I

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

id Name GO ID Score Top Affiliating Genes
1 signal transducer activity GO:0004871 8.62 CASR GNA11

Sources for Hypocalciuric Hypercalcemia, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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