MCID: HYP720
MIFTS: 16

Hyperparathyroidism 4

Categories: Genetic diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Hyperparathyroidism 4

MalaCards integrated aliases for Hyperparathyroidism 4:

Name: Hyperparathyroidism 4 57 75 6
Hrpt4 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
hyperparathyroidism 4:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Hyperparathyroidism 4

UniProtKB/Swiss-Prot : 75 Hyperparathyroidism 4: A form of familial primary hyperparathyroidism, an 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, is also known as hrpt4. An important gene associated with Hyperparathyroidism 4 is GCM2 (Glial Cells Missing Homolog 2). Affiliated tissues include bone, and related phenotypes are nephrolithiasis and osteopenia

Description from OMIM: 617343

Related Diseases for Hyperparathyroidism 4

Symptoms & Phenotypes for Hyperparathyroidism 4

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Kidneys:
nephrolithiasis (in some patients)

Endocrine Features:
primary hyperparathyroidism
parathyroid carcinoma (rare)

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)


Clinical features from OMIM:

617343

Human phenotypes related to Hyperparathyroidism 4:

32
# Description HPO Frequency HPO Source Accession
1 nephrolithiasis 32 occasional (7.5%) HP:0000787
2 osteopenia 32 occasional (7.5%) HP:0000938
3 hypercalcemia 32 HP:0003072
4 parathyroid carcinoma 32 occasional (7.5%) HP:0006780
5 primary hyperparathyroidism 32 HP:0008200

Drugs & Therapeutics for Hyperparathyroidism 4

Search Clinical Trials , NIH Clinical Center for Hyperparathyroidism 4

Genetic Tests for Hyperparathyroidism 4

Anatomical Context for Hyperparathyroidism 4

MalaCards organs/tissues related to Hyperparathyroidism 4:

41
Bone

Publications for Hyperparathyroidism 4

Variations for Hyperparathyroidism 4

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

75
# Symbol AA change Variation ID SNP ID
1 GCM2 p.Gln251Glu VAR_078579 rs1057519581Hyperparathyroidism
2 GCM2 p.Leu379Gln VAR_078581 rs1057519582Hyperparathyroidism
3 GCM2 p.Tyr394Ser VAR_078582 rs142287570

ClinVar genetic disease variations for Hyperparathyroidism 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GCM2 NM_004752.3(GCM2): c.1181A> C (p.Tyr394Ser) single nucleotide variant Uncertain significance rs142287570 GRCh37 Chromosome 6, 10874568: 10874568
2 GCM2 NM_004752.3(GCM2): c.1181A> C (p.Tyr394Ser) single nucleotide variant Uncertain significance rs142287570 GRCh38 Chromosome 6, 10874335: 10874335
3 GCM2 NM_004752.3(GCM2): c.751C> G (p.Gln251Glu) single nucleotide variant no interpretation for the single variant rs1057519581 GRCh38 Chromosome 6, 10874765: 10874765
4 GCM2 NM_004752.3(GCM2): c.751C> G (p.Gln251Glu) single nucleotide variant no interpretation for the single variant rs1057519581 GRCh37 Chromosome 6, 10874998: 10874998
5 GCM2 NM_004752.3(GCM2): c.1136T> A (p.Leu379Gln) single nucleotide variant no interpretation for the single variant rs1057519582 GRCh38 Chromosome 6, 10874380: 10874380
6 GCM2 NM_004752.3(GCM2): c.1136T> A (p.Leu379Gln) single nucleotide variant no interpretation for the single variant rs1057519582 GRCh37 Chromosome 6, 10874613: 10874613

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

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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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62 PubMed
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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