MCID: HYP243
MIFTS: 41

Hyperparathyroidism 1

Categories: Genetic diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Hyperparathyroidism 1

MalaCards integrated aliases for Hyperparathyroidism 1:

Name: Hyperparathyroidism 1 57 75 29 6 73
Hyperparathyroidism, Familial Primary 57 13
Hrpt1 57 75
Fihp 57 75
Hyperparathyroidism, Familial Isolated Primary; Fihp 57
Hyperparathyroidism, Familial, Isolated, Primary 75
Hyperparathyroidism, Familial Isolated Primary 57
Familial Isolated Hyperparathyroidism 75
Parathyroid Adenoma, Familial 73
Familial Parathyroid Adenoma 59
Hyperparathyroidism 3 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hyperparathyroidism 1:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

OMIM 57 145000
Orphanet 59 ORPHA99877
MESH via Orphanet 45 C564166
UMLS via Orphanet 74 C1840403
ICD10 via Orphanet 34 E21.0
MedGen 42 C1840402
MeSH 44 D049950

Summaries for Hyperparathyroidism 1

OMIM : 57 Familial isolated primary hyperparathyroidism is an autosomal dominant hypercalcemic disorder caused by inappropriate oversecretion of parathyroid hormone (PTH) from parathyroid adenomas, hyperplasia, and carcinomas (summary by Shibata et al., 2015). (145000)

MalaCards based summary : Hyperparathyroidism 1, also known as hyperparathyroidism, familial primary, is related to hyperparathyroidism 3 and hyperparathyroidism 2 with jaw tumors. An important gene associated with Hyperparathyroidism 1 is CDC73 (Cell Division Cycle 73). The drugs Calcimimetic Agents and Calcium, Dietary have been mentioned in the context of this disorder. Affiliated tissues include bone and testes, and related phenotypes are osteopenia and renal insufficiency

UniProtKB/Swiss-Prot : 75 Hyperparathyroidism 1: An autosomal dominant disorder characterized by hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid hyperplasia, adenomas, and carcinomas.

Related Diseases for Hyperparathyroidism 1

Graphical network of the top 20 diseases related to Hyperparathyroidism 1:



Diseases related to Hyperparathyroidism 1

Symptoms & Phenotypes for Hyperparathyroidism 1

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
hypercalcemia
primary chief cell hyperplasia

Endocrine Features:
primary hyperparathyroidism


Clinical features from OMIM:

145000

Human phenotypes related to Hyperparathyroidism 1:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000938
2 renal insufficiency 59 32 very rare (1%) Very rare (<4-1%) HP:0000083
3 hypophosphatemia 59 32 frequent (33%) Frequent (79-30%) HP:0002148
4 hypercalciuria 59 32 frequent (33%) Frequent (79-30%) HP:0002150
5 left ventricular hypertrophy 59 32 frequent (33%) Frequent (79-30%) HP:0001712
6 mitral valve calcification 59 32 frequent (33%) Frequent (79-30%) HP:0004382
7 nephrocalcinosis 59 32 very rare (1%) Very rare (<4-1%) HP:0000121
8 recurrent fractures 59 32 very rare (1%) Very rare (<4-1%) HP:0002757
9 parathyroid adenoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0002897
10 hypercalcemia 59 32 frequent (33%) Frequent (79-30%) HP:0003072
11 elevated circulating parathyroid hormone level 59 32 frequent (33%) Frequent (79-30%) HP:0003165
12 parathyroid hyperplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008208
13 aortic valve calcification 59 32 frequent (33%) Frequent (79-30%) HP:0004380
14 generalized osteoporosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0040160
15 parathyroid carcinoma 59 32 very rare (1%) Very rare (<4-1%) HP:0006780
16 hyperphosphaturia 59 32 frequent (33%) Frequent (79-30%) HP:0003109
17 elevated alkaline phosphatase of bone origin 59 32 occasional (7.5%) Occasional (29-5%) HP:0010639
18 primary hyperparathyroidism 59 32 obligate (100%) Obligate (100%) HP:0008200
19 calcium nephrolithiasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004724
20 polyarticular chondrocalcinosis 59 32 very rare (1%) Very rare (<4-1%) HP:0005017

GenomeRNAi Phenotypes related to Hyperparathyroidism 1 according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.5 MEN1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.5 MAP4K2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.5 MAP4K2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.5 MAP4K2 MEN1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-128 9.5 MEN1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-147 9.5 MAP4K2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.5 MEN1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.5 MAP4K2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.5 MEN1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.5 MAP4K2 MEN1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.5 MEN1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.5 MEN1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.5 MAP4K2

Drugs & Therapeutics for Hyperparathyroidism 1

Drugs for Hyperparathyroidism 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Calcimimetic Agents Phase 3
2 Calcium, Dietary Phase 3
3 Cinacalcet Hydrochloride Phase 3
4 Hormone Antagonists Phase 3
5 Hormones Phase 3
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Cinacalcet to Treat Familial Primary Hyperparathyroidism Completed NCT00325104 Phase 3
2 Informed Consent for Whole Genome Sequencing: Ideals and Norms Referenced by Early Participants Completed NCT01369953

Search NIH Clinical Center for Hyperparathyroidism 1

Genetic Tests for Hyperparathyroidism 1

Genetic tests related to Hyperparathyroidism 1:

# Genetic test Affiliating Genes
1 Hyperparathyroidism 1 29 CDC73

Anatomical Context for Hyperparathyroidism 1

MalaCards organs/tissues related to Hyperparathyroidism 1:

41
Bone, Testes

Publications for Hyperparathyroidism 1

Articles related to Hyperparathyroidism 1:

(show all 26)
# Title Authors Year
1
Familial isolated hyperparathyroidism due to HRPT2 mutation. ( 29941370 )
2018
2
GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism. ( 27745835 )
2016
3
Genetic basis of familial isolated hyperparathyroidism: a case series and a narrative review of the literature. ( 24442824 )
2014
4
Familial isolated hyperparathyroidism: role of intra operative parathormone assay. ( 24082601 )
2012
5
HRPT2-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach? ( 19169472 )
2008
6
Parafibromin expression, single-gland involvement, and limited parathyroidectomy in familial isolated hyperparathyroidism. ( 18063086 )
2007
7
Mutations in genes causing human familial isolated hyperparathyroidism do not account for hyperparathyroidism in Keeshond dogs. ( 17158076 )
2007
8
Surveillance for early detection of aggressive parathyroid disease: carcinoma and atypical adenoma in familial isolated hyperparathyroidism associated with a germline HRPT2 mutation. ( 16995822 )
2006
9
Genetic analyses in familial isolated hyperparathyroidism: implication for clinical assessment and surgical management. ( 16430712 )
2006
10
Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3-14. ( 16525030 )
2006
11
Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome. ( 16817812 )
2006
12
Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: implications for cancer surveillance. ( 16720667 )
2006
13
Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. ( 14715834 )
2004
14
Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. ( 14985373 )
2004
15
Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP). ( 14985403 )
2004
16
Genetic analysis of the MEN1 gene and HPRT2 locus in two Italian kindreds with familial isolated hyperparathyroidism. ( 11966738 )
2002
17
Involvement of the MEN1 gene locus in familial isolated hyperparathyroidism. ( 12213668 )
2002
18
Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds. ( 11807402 )
2002
19
A case of familial isolated hyperparathyroidism with ectopic parathyroid cancer. ( 11603567 )
2001
20
[Familial isolated hyperparathyroidism: a report of two cases]. ( 10689881 )
2000
21
Familial isolated hyperparathyroidism as a variant of multiple endocrine neoplasia type 1 in a large Danish pedigree. ( 10634381 )
2000
22
Familial isolated hyperparathyroidism maps to the hyperparathyroidism-jaw tumor locus in 1q21-q32 in a subset of families. ( 9626148 )
1998
23
Familial isolated hyperparathyroidism due to multiple adenomas associated with ossifying jaw fibroma and multiple uterine adenomyomatous polyps. ( 9625369 )
1998
24
Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism. ( 9709921 )
1998
25
Familial isolated hyperparathyroidism caused by single adenoma: a distinct entity different from multiple endocrine neoplasia. ( 10395244 )
1998
26
Familial isolated hyperparathyroidism: a distinct genetic entity with an increased risk of parathyroid cancer. ( 7903311 )
1993

Variations for Hyperparathyroidism 1

UniProtKB/Swiss-Prot genetic disease variations for Hyperparathyroidism 1:

75
# Symbol AA change Variation ID SNP ID
1 CDC73 p.Leu64Pro VAR_024082 rs121434264

ClinVar genetic disease variations for Hyperparathyroidism 1:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDC73 NM_024529.4(CDC73): c.679_680insAG (p.Arg227Lysfs) insertion Pathogenic rs80356649 GRCh37 Chromosome 1, 193111146: 193111147
2 CDC73 NM_024529.4(CDC73): c.679_680insAG (p.Arg227Lysfs) insertion Pathogenic rs80356649 GRCh38 Chromosome 1, 193142016: 193142017
3 CDC73 NM_024529.4(CDC73): c.191T> C (p.Leu64Pro) single nucleotide variant Pathogenic rs121434264 GRCh37 Chromosome 1, 193094301: 193094301
4 CDC73 NM_024529.4(CDC73): c.191T> C (p.Leu64Pro) single nucleotide variant Pathogenic rs121434264 GRCh38 Chromosome 1, 193125171: 193125171
5 CDC73 NM_024529.4(CDC73): c.131+1G> A single nucleotide variant Pathogenic rs587776558 GRCh37 Chromosome 1, 193091462: 193091462
6 CDC73 NM_024529.4(CDC73): c.131+1G> A single nucleotide variant Pathogenic rs587776558 GRCh38 Chromosome 1, 193122332: 193122332
7 MEN1 NM_130803.2(MEN1): c.1365+1G> A single nucleotide variant Pathogenic rs863223311 GRCh38 Chromosome 11, 64805033: 64805033
8 MEN1 NM_130803.2(MEN1): c.1365+1G> A single nucleotide variant Pathogenic rs863223311 GRCh37 Chromosome 11, 64572505: 64572505
9 CDC73 NM_024529.4(CDC73): c.237+1G> T single nucleotide variant Pathogenic rs794727303 GRCh37 Chromosome 1, 193094348: 193094348
10 CDC73 NM_024529.4(CDC73): c.237+1G> T single nucleotide variant Pathogenic rs794727303 GRCh38 Chromosome 1, 193125218: 193125218
11 CDC73 NM_024529.4(CDC73): c.132-2A> G single nucleotide variant Likely pathogenic rs1057519419 GRCh38 Chromosome 1, 193125110: 193125110
12 CDC73 NM_024529.4(CDC73): c.132-2A> G single nucleotide variant Likely pathogenic rs1057519419 GRCh37 Chromosome 1, 193094240: 193094240

Expression for Hyperparathyroidism 1

Search GEO for disease gene expression data for Hyperparathyroidism 1.

Pathways for Hyperparathyroidism 1

GO Terms for Hyperparathyroidism 1

Cellular components related to Hyperparathyroidism 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 8.62 CDC73 MEN1

Biological processes related to Hyperparathyroidism 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.16 MAP4K2 MEN1
2 negative regulation of epithelial cell proliferation GO:0050680 8.96 CDC73 MEN1
3 beta-catenin-TCF complex assembly GO:1904837 8.62 CDC73 MEN1

Sources for Hyperparathyroidism 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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