HRPT4
MCID: HYP720
MIFTS: 25

Hyperparathyroidism 4 (HRPT4)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Hyperparathyroidism 4

MalaCards integrated aliases for Hyperparathyroidism 4:

Name: Hyperparathyroidism 4 57 72 29 6
Hrpt4 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
one reported homozygote did not show unusual or more severe symptoms than heterozygotes


HPO:

31
hyperparathyroidism 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 617343
OMIM Phenotypic Series 57 PS145000
MeSH 44 D049950

Summaries for Hyperparathyroidism 4

UniProtKB/Swiss-Prot : 72 Hyperparathyroidism 4: A form of familial primary hyperparathyroidism, a hypercalcemic disorder caused by inappropriate oversecretion of parathyroid hormone due to parathyroid hyperplasia or neoplasms. Clinical features include hypercalcemia, phosphaturia, and increased bone resorption. HRPT4 inheritance is autosomal dominant.

MalaCards based summary : Hyperparathyroidism 4, also known as hrpt4, is related to primary hyperparathyroidism and hyperparathyroidism. An important gene associated with Hyperparathyroidism 4 is GCM2 (Glial Cells Missing Transcription Factor 2). Affiliated tissues include breast, kidney and thyroid, and related phenotypes are osteopenia and nephrolithiasis

More information from OMIM: 617343 PS145000

Related Diseases for Hyperparathyroidism 4

Diseases in the Hyperparathyroidism family:

Hyperparathyroidism 1 Hyperparathyroidism 3
Hyperparathyroidism 4 Primary Hyperparathyroidism
Secondary Hyperparathyroidism Rare Hyperparathyroidism

Diseases related to Hyperparathyroidism 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 primary hyperparathyroidism 9.9
2 hyperparathyroidism 9.9
3 glucose intolerance 9.8

Symptoms & Phenotypes for Hyperparathyroidism 4

Human phenotypes related to Hyperparathyroidism 4:

31
# Description HPO Frequency HPO Source Accession
1 osteopenia 31 occasional (7.5%) HP:0000938
2 nephrolithiasis 31 occasional (7.5%) HP:0000787
3 parathyroid carcinoma 31 occasional (7.5%) HP:0006780
4 hypercalcemia 31 HP:0003072
5 primary hyperparathyroidism 31 HP:0008200

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Laboratory Abnormalities:
hypercalcemia
normal to high circulating parathyroid hormone

Skeletal:
osteopenia (in some patients)

Neoplasia:
nonparathyroid neoplasms (ovarian, pancreatic, colorectal, and/or breast cancer in some patients)

Endocrine Features:
primary hyperparathyroidism
parathyroid carcinoma (rare)

Genitourinary Kidneys:
nephrolithiasis (in some patients)

Clinical features from OMIM®:

617343 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hyperparathyroidism 4

Search Clinical Trials , NIH Clinical Center for Hyperparathyroidism 4

Genetic Tests for Hyperparathyroidism 4

Genetic tests related to Hyperparathyroidism 4:

# Genetic test Affiliating Genes
1 Hyperparathyroidism 4 29 GCM2

Anatomical Context for Hyperparathyroidism 4

MalaCards organs/tissues related to Hyperparathyroidism 4:

40
Breast, Kidney, Thyroid

Publications for Hyperparathyroidism 4

Articles related to Hyperparathyroidism 4:

(show all 19)
# Title Authors PMID Year
1
GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism. 57 6
27745835 2016
2
Incidental Detection of a Small Cell Lung Cancer by 18F-Choline PET/CT Performed for Recurrent Hyperparathyroidism After Parathyroidectomy. 61
32910058 2021
3
Cryo-EM Reveals Unanchored M1-Ubiquitin Chain Binding at hRpn11 of the 26S Proteasome. 61
32783951 2020
4
Neurologic conditions and disorders of uremic syndrome of chronic kidney disease: presentations, causes, and treatment strategies. 61
30501441 2019
5
Cutting Edge in Thyroid Surgery: Autofluorescence of Parathyroid Glands. 61
27212004 2016
6
Use of cinacalcet in nephrolithiasis associated with normocalcemic or hypercalcemic primary hyperparathyroidism: results of a prospective randomized pilot study. 61
25847900 2015
7
Investigation of glucose intolerance in patients with normocalcemic primary hyperparathyroidism: 4-year follow-up. 61
24723260 2014
8
Fuller Albright and our current understanding of calcium and phosphorus regulation and primary hyperparathyroidism. 61
21629339 2011
9
Phosphocalcic metabolism after biliopancreatic diversion. 61
17658024 2007
10
[Hypercalcemia of malignancy: clinical features, diagnosis and treatment]. 61
16444366 2005
11
Parathyromatosis as cause of recurrent secondary hyperparathyroidism: a cytologic diagnosis. 61
11747238 2001
12
[Urinary calculi, consisting of dehydrated calcium phosphate. Clinical, biological, radiologic aspects, clinical course and management]. 61
8558032 1995
13
[Oral high dose 1,25(OH)2D3 pulse therapy]. 61
2051637 1991
14
[Calcitonin and osteoporosis--a critical review of the literature 1980-1989]. 61
2188043 1990
15
Parathyroid autotransplantation in forty-four patients with primary hyperparathyroidism: the role of thallium scanning. 61
3764687 1986
16
[Diagnostic criteria for pseudohypoparathyroidism and related diseases]. 61
7173455 1982
17
Association between primary hyperparathyroidism and previous irradiation. 61
6210806 1982
18
[Diagnosis of primary hyperparathyroidism. 4 case reports]. 61
7207405 1980
19
Primary hyperparathyroidism and stone formation in medullary sponge kidneys. 61
710462 1978

Variations for Hyperparathyroidism 4

ClinVar genetic disease variations for Hyperparathyroidism 4:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GCM2 NM_004752.4(GCM2):c.1181A>C (p.Tyr394Ser) SNV Pathogenic 355008 rs142287570 GRCh37: 6:10874568-10874568
GRCh38: 6:10874335-10874335
2 GCM2 NM_004752.4(GCM2):c.751C>G (p.Gln251Glu) SNV Pathogenic 375590 rs1057519581 GRCh37: 6:10874998-10874998
GRCh38: 6:10874765-10874765

UniProtKB/Swiss-Prot genetic disease variations for Hyperparathyroidism 4:

72
# Symbol AA change Variation ID SNP ID
1 GCM2 p.Gln251Glu VAR_078579 rs105751958
2 GCM2 p.Leu379Gln VAR_078581 rs105751958
3 GCM2 p.Tyr394Ser VAR_078582 rs142287570

Expression for Hyperparathyroidism 4

Search GEO for disease gene expression data for Hyperparathyroidism 4.

Pathways for Hyperparathyroidism 4

GO Terms for Hyperparathyroidism 4

Sources for Hyperparathyroidism 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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