CDC73 gene related symptoms and diseases
All the information presented here about the CDC73 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CDC73 gene
Symptoms // Phenotype | % Cases |
---|---|
Elevated circulating parathyroid hormone level | Very Common - Between 80% and 100% cases |
Primary hyperparathyroidism | Very Common - Between 80% and 100% cases |
Hypophosphatemia | Very Common - Between 80% and 100% cases |
Renal insufficiency | Very Common - Between 80% and 100% cases |
Hypercalcemia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CDC73 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hypercalciuria
- Nephrocalcinosis
- Neoplasm
- Peptic ulcer
- Hyperparathyroidism
- Infantile hypercalcemia
- Parathyroid carcinoma
- Nephrolithiasis
And 64 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CDC73 gene
Here you will find a list of rare diseases related to the CDC73. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PARATHYROID CARCINOMA
Alternate names
PARATHYROID CARCINOMA Is also known as prtc
Description
Parathyroid carcinoma (PRTC) is a very rare, slow-growing, clinically serious endocrine tumor that generally develops in mid-adulthood. PRTC presents as a palpable painless mass in the neck and causes severe hypercalcemia and related symptoms, non-specific gastrointestinal manifestations, as well as renal and bone complications related to primary hyperparathyroidism (nephrolithiasis, impaired renal function, osteoporosis, bone pain, and pathologic fractures, etc.). Some PRTCs are however non-functioning tumors.
Most common symptoms of PARATHYROID CARCINOMA
- Neoplasm
- Muscle weakness
- Pain
- Fatigue
- Dysphagia
More info about PARATHYROID CARCINOMA
HYPERPARATHYROIDISM 1; HRPT1
Alternate names
HYPERPARATHYROIDISM 1; HRPT1 Is also known as fihp, hyperparathyroidism, familial isolated primary
Description
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).
Most common symptoms of HYPERPARATHYROIDISM 1; HRPT1
- Neoplasm
- Renal insufficiency
- Osteopenia
- Carcinoma
- Abnormality of the kidney
More info about HYPERPARATHYROIDISM 1; HRPT1
HYPERPARATHYROIDISM-JAW TUMOR SYNDROME
Alternate names
HYPERPARATHYROIDISM-JAW TUMOR SYNDROME Is also known as hyperparathyroidism-jaw tumor syndrome, hereditary, hyperparathyroidism, familial primary, with multiple ossifying jaw fibromas, hpt-jt
Description
Hyperparathyroidism-jaw tumor syndrome is a rare autosomal dominant disorder characterized by synchronous or metachronous occurrence of primary hyperparathyroidism, ossifying fibroma of the maxilla and/or mandible, renal tumor, and uterine tumors. It is associated with increased risk of parathyroid cancer (summary by Shibata et al., 2015).For a discussion of genetic heterogeneity of hyperparathyroidism, see HRPT1 (OMIM ).
Most common symptoms of HYPERPARATHYROIDISM-JAW TUMOR SYNDROME
- Neoplasm
- Muscle weakness
- Pain
- Fatigue
- Dysphagia
More info about HYPERPARATHYROIDISM-JAW TUMOR SYNDROME
FAMILIAL ISOLATED HYPERPARATHYROIDISM
Alternate names
FAMILIAL ISOLATED HYPERPARATHYROIDISM Is also known as fihpt
Most common symptoms of FAMILIAL ISOLATED HYPERPARATHYROIDISM
- Renal insufficiency
- Osteopenia
- Nephrocalcinosis
- Hypercalciuria
- Hypercalcemia
More info about FAMILIAL ISOLATED HYPERPARATHYROIDISM
SOURCES: ORPHANET
Search interest in CDC73
Potential gene panels for CDC73 gene
Hereditary Endocrine Cancer Panel Panel
By Baylor Miraca Genetics Laboratories Hereditary Endocrine Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD TP53 VHL CDC73 SDHAF2 TMEM127 MAX
More info about this panelComprehensive Hereditary Cancer Panel Panel
By Baylor Miraca Genetics Laboratories Comprehensive Hereditary Cancer Panel that also includes the following genes: RUNX1 SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM
More info about this panelInherited Cancer Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Inherited Cancer Panel that also includes the following genes: BLM SDHB BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 TSC1 TSC2
More info about this panelVistaSeq Endrocrine Cancer Panel Panel
By Molecular Diagnostic Laboratory University of Alberta VistaSeq Endrocrine Cancer Panel that also includes the following genes: SDHB SDHC SDHD TP53 VHL CDC73 TMEM127 MAX MEN1 NF1
More info about this panelRenal Cystic Disorders Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Renal Cystic Disorders Sequencing Panel that also includes the following genes: SALL1 SDCCAG8 HNF1B TFAP2A TSC1 TSC2 CEP41 UMOD VHL ARL6
More info about this panelHyperparathyroidism Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Hyperparathyroidism Deletion/Duplication Panel that also includes the following genes: CASR CDC73 CDKN1B GNA11 AP2S1 MEN1 PTH1R RET
More info about this panelHyperparathyroidism Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Hyperparathyroidism Sequencing Panel that also includes the following genes: CASR CDC73 CDKN1B GNA11 AP2S1 MEN1 PTH1R RET
More info about this panelExomePLUS Electrolyte & Kidney Stone Panel
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine ExomePLUS Electrolyte & Kidney Stone that also includes the following genes: SCNN1A SCNN1B SLC12A1 SLC12A3 SLC2A2 VDR WNK4 CASR BSND CDC73
More info about this panelHereditary Cancer Panel - Renal19 Panel
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Hereditary Cancer Panel - Renal19 that also includes the following genes: SDHA SDHB SDHC SDHD EPCAM TP53 TSC1 TSC2 VHL CDC73
More info about this panelHereditary Cancer Panel - Endocrine/Paraganglioma-Pheochromocytoma17 Panel
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Hereditary Cancer Panel - Endocrine/Paraganglioma-Pheochromocytoma17 that also includes the following genes: SDHA SDHB SDHC SDHD TP53 TSC1 TSC2 VHL CDC73 SDHAF2
More info about this panelHereditary Cancer Panel- Comprehensive63 Panel
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Hereditary Cancer Panel- Comprehensive63 that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 STK11
More info about this panelCDC73. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CDC73 gene.
More info about this panelCDC73. Sequencing of the exons 1-7 Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CDC73 gene.
More info about this panelHereditary Endocrine Cancer Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Hereditary Endocrine Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD TP53 VHL CDC73 CDKN1B SDHAF2 TMEM127
More info about this panelCHOP Comprehensive Hereditary Cancer Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia CHOP Comprehensive Hereditary Cancer Panel that also includes the following genes: RMRP RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SH2D1A SLC25A13
More info about this panelHereditary Kidney Cancer Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Hereditary Kidney Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCB1 TSC1 TSC2 VHL WT1 CDC73
More info about this panelHyperparathyroidism (sequence analysis of CDC73 gene) Panel
By CGC Genetics
This panel specifically test the CDC73 gene.
More info about this panelOncoRisk (NGS panel for 48 genes) Panel
By CGC Genetics OncoRisk (NGS panel for 48 genes) that also includes the following genes: SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 STK11 EPCAM TP53 VHL
More info about this panelOncoRisk Plus (NGS panel for 89 genes) Panel
By CGC Genetics OncoRisk Plus (NGS panel for 89 genes) that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panelHyperparathyroidism (deletion/duplication analysis of CDC73 gene) Panel
By CGC Genetics
This panel specifically test the CDC73 gene.
More info about this panelHyperparathyroidism (deletion/duplication analysis of CDC73 gene) Panel
By CGC Genetics
This panel specifically test the CDC73 gene.
More info about this panelHyperparathyroidism 1 Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the CDC73 gene.
More info about this panelCDC73-Related Disorders Panel
By Exeter Molecular Genetics Laboratory
This panel specifically test the CDC73 gene.
More info about this panelCancer Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Cancer Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4
More info about this panelRenal Cancer Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Renal Cancer Sequencing Panel with CNV Detection that also includes the following genes: SDHA SDHB SDHC SDHD SMARCB1 EPCAM TP53 TSC1 TSC2 VHL
More info about this panelCDC73-Related Disorders via CDC73 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the CDC73 gene.
More info about this panelHereditary kidney disorders - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panelHereditary Cancer Syndromes - panels Panel
By MGZ Medical Genetics Center Hereditary Cancer Syndromes - panels that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panelFamilial Tumor Syndromes Panel Panel
By CeGaT GmbH Familial Tumor Syndromes Panel that also includes the following genes: BLM SDHB SDHC SDHD SMARCA4 SMARCB1 SMARCE1 TP53 TSC1 TSC2
More info about this panelCDC73-Related Disorders Panel
By Innovagenomics Innovagenomics S.L
This panel specifically test the CDC73 gene.
More info about this panelCancer Predisposition Panel
By Asper Biogene Asper Biogene LLC Cancer Predisposition that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1
More info about this panelThyroid Cancer Panel
By Asper Biogene Asper Biogene LLC Thyroid Cancer that also includes the following genes: SDHB SDHD TP53 CDC73 DICER1 APC MEN1 PRKAR1A PTEN RET
More info about this panelHRPT2 Panel
By Division Human Genetics Medical University Innsbruck
This panel specifically test the CDC73 gene.
More info about this panelInvitae CDC73-Related Conditions Test Panel
By Invitae
This panel specifically test the CDC73 gene.
More info about this panelInvitae Multi-Cancer Panel Panel
By Invitae Invitae Multi-Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4
More info about this panelInvitae Hyperparathyroidism Panel Panel
By Invitae Invitae Hyperparathyroidism Panel that also includes the following genes: CASR CDC73 CDKN1B MEN1 RET
More info about this panelInvitae Renal/Urinary Tract Cancers Panel Panel
By Invitae Invitae Renal/Urinary Tract Cancers Panel that also includes the following genes: SDHB SDHC SMARCA4 SMARCB1 EPCAM TP53 TSC1 TSC2 VHL WT1
More info about this panelInvitae Pediatric Solid Tumors Panel Panel
By Invitae Invitae Pediatric Solid Tumors Panel that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A SMARCA4 SMARCB1 SMARCE1 STK11
More info about this panelHyperparathyroidism: CDC73 (HPRT2) gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the CDC73 gene.
More info about this panelHyperparathyroidism: deletions-duplications analysis (MLPA) CDC73 (HRPT2) gene Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the CDC73 gene.
More info about this panelONCOLOGY, PANEL Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases ONCOLOGY, PANEL that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRAF BRCA1 BRCA2 SMARCA4
More info about this panelHereditary Cancer Syndrome: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Cancer Syndrome: Sequencing Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1 STK11
More info about this panelEndocrine Cancer: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Cancer: Sequencing Panel that also includes the following genes: SDHB SDHC SDHD TP53 VHL CDC73 CDKN1B SDHAF2 TMEM127 AIP
More info about this panelEndocrine Cancer: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Endocrine Cancer: Deletion/Duplication Panel that also includes the following genes: SDHB SDHC SDHD TP53 VHL CDC73 SDHAF2 TMEM127 MAX MEN1
More info about this panelHereditary Cancer Syndrome: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Cancer Syndrome: Deletion/Duplication Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B
More info about this panelRenal/Kidney NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Renal/Kidney NGS Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCB1 EPCAM TP53 TSC1 TSC2 VHL
More info about this panelCDC73 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CDC73 gene.
More info about this panelComprehensive Cancer Panel Panel
By Fulgent Genetics Fulgent Genetics Comprehensive Cancer Panel that also includes the following genes: ROBO2 RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
More info about this panelRenal / Urinary Cancer Comprehensive Panel Panel
By Fulgent Genetics Fulgent Genetics Renal / Urinary Cancer Comprehensive Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCA4 SMARCB1 EPCAM TP53 TSC1 TSC2
More info about this panelHyperparathyroidism Panel Panel
By Blueprint Genetics Hyperparathyroidism Panel that also includes the following genes: CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C AIRE GCM2 GNA11 AP2S1
More info about this panelHereditary Pediatric Cancer Panel Panel
By Blueprint Genetics Hereditary Pediatric Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF
More info about this panelComprehensive Hereditary Cancer Panel Panel
By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF
More info about this panelHereditary Endocrine Cancer Panel Panel
By Blueprint Genetics Hereditary Endocrine Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD TP53 VHL WRN CDC73 DICER1 CDKN1B
More info about this panelHereditary Renal Cancer Panel Panel
By Blueprint Genetics Hereditary Renal Cancer Panel that also includes the following genes: SDHB SDHC SDHD SMARCA4 SMARCB1 EPCAM TP53 TSC1 TSC2 VHL
More info about this panelHyperparathyroidism - jaw tumor syndrome Panel
By Bioarray
This panel specifically test the CDC73 gene.
More info about this panelFoundationOne® Heme Panel
By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
More info about this panelNeoTYPE® Discovery Profile for Solid Tumors Panel
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2
More info about this panelCaris MI TumorSeek 592-Gene NGS Panel Panel
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panelHYPERPARATHYROIDISM-JAW TUMOR SYNDROME Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the CDC73 gene.
More info about this panelFamilial isolated hyperparathyroidism Panel
By Laboratorio de Genetica Clinica SL Familial isolated hyperparathyroidism that also includes the following genes: CASR CDC73 GCM2 MEN1
More info about this panelProvidence Personalized Medicine Panel - Solid Tumor Panel
By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2
More info about this panelHyperparathyroidism-Jaw Tumor Syndrome (HPT-JT), Sequencing CDC73 (HRPT2) Gene Panel
By Reference Laboratory Genetics
This panel specifically test the CDC73 gene.
More info about this panelOncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes Panel
By Reference Laboratory Genetics Oncology Genetic Panel , Panel Massive Sequencing (NGS) 90 Genes that also includes the following genes: RUNX1 BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11
More info about this panelPhosphorus Renal/Urinary Tract Cancer Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Renal/Urinary Tract Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCA4 SMARCB1 EPCAM TP53 TSC1 TSC2
More info about this panelPhosphorus Pan-Cancer Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pan-Cancer Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4
More info about this panelPhosphorus Pediatric Cancers Panel Panel
By Phosphorus Diagnostics LLC Phosphorus Pediatric Cancers Panel that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A SMARCB1 STK11 EPCAM
More info about this panelTempus xT assay Panel
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panelRenal Cancer: Gene Sequencing Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Renal Cancer: Gene Sequencing Panel that also includes the following genes: SDHB SDHC SDHD SMARCB1 BUB1B TP53 TSC1 TSC2 VHL WT1
More info about this panelRenal Cancer: Gene Deletion/Duplication Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Renal Cancer: Gene Deletion/Duplication Panel that also includes the following genes: SDHB SDHC SDHD SMARCB1 BUB1B TP53 TSC1 TSC2 VHL WT1
More info about this panelCEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2
More info about this panelEndocrine Cancer: gene sequencing Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Endocrine Cancer: gene sequencing Panel that also includes the following genes: SDHB SDHC SDHD TP53 VHL CDC73 CDKN1B SDHAF2 TMEM127 AIP
More info about this panelEndocrine Cancer: gene deletion/duplication Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Endocrine Cancer: gene deletion/duplication Panel that also includes the following genes: SDHB SDHC SDHD TP53 VHL CDC73 SDHAF2 TMEM127 MAX MEN1
More info about this panelHereditary Cancer Syndrome: Gene Sequencing Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Cancer Syndrome: Gene Sequencing Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1 STK11
More info about this panelHereditary Cancer Syndrome: Gene Deletion/Duplication Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Cancer Syndrome: Gene Deletion/Duplication Panel that also includes the following genes: BLM SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 BUB1B
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