CDKN1B gene related symptoms and diseases
All the information presented here about the CDKN1B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CDKN1B gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Neoplasm | Very Common - Between 80% and 100% cases |
| Pituitary growth hormone cell adenoma | Common - Between 50% and 80% cases |
| Parathyroid adenoma | Common - Between 50% and 80% cases |
| Pituitary corticotropic cell adenoma | Common - Between 50% and 80% cases |
| Increased urinary cortisol level | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with CDKN1B gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Esophagitis
- Pituitary adenoma
- Hyperinsulinemic hypoglycemia
- Abnormality of the endocrine system
- Neoplasm of the endocrine system
- Elevated circulating parathyroid hormone level
- Primary hyperparathyroidism
- Increased circulating cortisol level
And 106 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CDKN1B gene
Here you will find a list of rare diseases related to the CDKN1B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MULTIPLE ENDOCRINE NEOPLASIA TYPE 1
Alternate names
MULTIPLE ENDOCRINE NEOPLASIA TYPE 1 Is also known as men1, wermer syndrome, endocrine adenomatosis, multiple, mea i, men i
Description
Multiple endocrine neoplasia Type 1 (MEN1) is a frequent form of MEN (see this term), a rare inherited cancer syndrome, characterized by the development of neuroendocrine tumors of the parathyroid, pancreas, and anterior pituitary gland, and less commonly the adrenal cortical gland, with other non-endocrine tumors in some patients.
Most common symptoms of MULTIPLE ENDOCRINE NEOPLASIA TYPE 1
- Seizures
- Neoplasm
- Pain
- Vomiting
- Diarrhea
More info about MULTIPLE ENDOCRINE NEOPLASIA TYPE 1
MULTIPLE ENDOCRINE NEOPLASIA TYPE 4
Alternate names
MULTIPLE ENDOCRINE NEOPLASIA TYPE 4 Is also known as men4
Description
Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN (see this term), an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.
Most common symptoms of MULTIPLE ENDOCRINE NEOPLASIA TYPE 4
- Neoplasm
- Hypertension
- Diarrhea
- Diabetes mellitus
- Hypothyroidism
More info about MULTIPLE ENDOCRINE NEOPLASIA TYPE 4
SÉZARY SYNDROME
Alternate names
SÉZARY SYNDROME Is also known as sÉzary lymphoma
Description
Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).
Most common symptoms of SÉZARY SYNDROME
- Neoplasm
- Abnormal facial shape
- Peripheral neuropathy
- Hepatomegaly
- Fever
More info about SÉZARY SYNDROME
Search interest in CDKN1B
Potential gene panels for CDKN1B gene
Inherited Cancer Panel Panel
United States.
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 panel United States.
Hyperparathyroidism Deletion/Duplication Panel Panel
United States.
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 panel United States.
Hyperparathyroidism Sequencing Panel Panel
United States.
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 panel United States.
Hereditary Cancer Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Hereditary Cancer Panel, Sequencing and Deletion/Duplication that also includes the following genes: SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1 STK11 EPCAM TP53
More info about this panel United States.
BrainTumorNext Panel
United States.
By Ambry Genetics BrainTumorNext that also includes the following genes: SMARCA4 SMARCB1 SMARCE1 TP53 TSC1 TSC2 VHL SUFU DICER1 POT1
More info about this panel United States.
CancerNext-Expanded Panel
United States.
By Ambry Genetics CancerNext-Expanded that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1
More info about this panel United States.
CustomNext: Cancer Panel
United States.
By Ambry Genetics CustomNext: Cancer that also includes the following genes: BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4 SMARCB1
More info about this panel United States.
CDKN1B. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the CDKN1B gene.
More info about this panel Spain.
Hereditary Endocrine Cancer Panel Panel
United States.
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 panel United States.
CHOP Comprehensive Hereditary Cancer Panel Panel
United States.
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 panel United States.
Multiple endocrine neoplasia type IV (sequence analysis of CDKN1B gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CDKN1B gene.
More info about this panel Portugal.
Multiple Endocrine Neoplasia Type 4 Panel
United Kingdom.
By Exeter Molecular Genetics Laboratory
This panel specifically test the CDKN1B gene.
More info about this panel United Kingdom.
Cancer Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
Multiple Endocrine Neoplasia Type 4 via CDKN1B Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the CDKN1B gene.
More info about this panel United States.
Renal cell carcinoma Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Renal cell carcinoma that also includes the following genes: HNF1B TSC1 TSC2 VHL DICER1 CDKN1B WT1-AS FLCN DIS3L2 MAX
More info about this panel Germany.
Endocrine tumours Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Endocrine tumours that also includes the following genes: SDHA SDHB SDHC SDHD VHL CDKN1B SDHAF2 TMEM127 MAX MEN1
More info about this panel Germany.
Hereditary kidney disorders - different panels Panel
Germany.
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 panel Germany.
CDKN1 Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the CDKN1B gene.
More info about this panel Netherlands.
Multiple endocrine neoplasia type 4 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CDKN1B gene.
More info about this panel Germany.
Pheochromocytoma and Paraganglioma Panel Panel
Germany.
By CeGaT GmbH Pheochromocytoma and Paraganglioma Panel that also includes the following genes: SDHA SDHB SDHC SDHD VHL CDKN1B SDHAF2 TMEM127 MAX MEN1
More info about this panel Germany.
Invitae Multi-Cancer Panel Panel
United States.
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 panel United States.
Invitae Hyperparathyroidism Panel Panel
United States.
By Invitae Invitae Hyperparathyroidism Panel that also includes the following genes: CASR CDC73 CDKN1B MEN1 RET
More info about this panel United States.
ultiple endocrine Neoplasia type 4 (MEN4): CDKN1B gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the CDKN1B gene.
More info about this panel Spain.
ONCOLOGY, PANEL Panel
Spain.
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 panel Spain.
Hereditary Cancer Syndrome: Sequencing Panel Panel
United States.
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 panel United States.
Endocrine Cancer: Sequencing Panel Panel
United States.
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 panel United States.
Hereditary Cancer NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Hereditary Cancer NGS Panel that also includes the following genes: ROBO2 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCB1
More info about this panel United States.
CDKN1B Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CDKN1B gene.
More info about this panel United States.
Comprehensive Cancer Panel Panel
United States.
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 panel United States.
Hyperparathyroidism Panel Panel
Finland.
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 panel Finland.
Comprehensive Hereditary Cancer Panel Panel
Finland.
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 panel Finland.
Hereditary Endocrine Cancer Panel Panel
Finland.
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 panel Finland.
Multiple endocrine neoplasia type IV Panel
Spain.
By Bioarray
This panel specifically test the CDKN1B gene.
More info about this panel Spain.
Solid Tumor Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Solid Tumor Gene Set that also includes the following genes: RIT1 ROS1 RXRA FOXL2 BRAF BRCA1 BRCA2 SMARCA4 SMARCB1 KDM5C
More info about this panel United States.
Thoracic Tumors Gene Set Panel
United States.
By Genomics and Pathology Services Washington University in St. Louis Thoracic Tumors Gene Set that also includes the following genes: RIT1 ROS1 BRAF SMARCA4 STK11 MED12 TP53 TSC1 TSC2 KMT2C
More info about this panel United States.
FoundationOne® Heme Panel
United States.
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 panel United States.
NeoTYPE® Discovery Profile for Solid Tumors Panel
United States.
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 panel United States.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
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 panel United States.
MULTIPLE ENDOCRINE NEOPLASIA TYPE 4 (MEN4) Panel
Spain.
By Laboratorio de Genetica Clinica SL MULTIPLE ENDOCRINE NEOPLASIA TYPE 4 (MEN4) that also includes the following genes: CDKN1B CDKN2B
More info about this panel Spain.
Providence Personalized Medicine Panel - Solid Tumor Panel
United States.
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 panel United States.
Multiple Endocrine Neoplasia Type 4, Sequencing CDKN1B Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CDKN1B gene.
More info about this panel Spain.
Multiple endocrine neoplasia, type 4 Panel
Germany.
By Labor Dr. Wisplinghoff
This panel specifically test the CDKN1B gene.
More info about this panel Germany.
Phosphorus Brain and Nervous System Cancer Panel Panel
United States.
By Phosphorus Diagnostics LLC Phosphorus Brain and Nervous System Cancer Panel that also includes the following genes: SDHA SDHB SDHC SDHD SMARCA4 SMARCB1 SMARCE1 EPCAM TP53 TSC1
More info about this panel United States.
Phosphorus Pan-Cancer Panel Panel
United States.
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 panel United States.
152 Integrated Advantage NGS Solid Tumor Panel Panel
United States.
By Integrated Molecular Diagnostics Pathology, Inc. 152 Integrated Advantage NGS Solid Tumor Panel that also includes the following genes: ROS1 RRM1 SLCO1B1 BRAF BRCA1 SLC29A1 BRCA2 SMO SPARC SRC
More info about this panel United States.
Tempus xT assay Panel
United States.
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 panel United States.
Tempus xO assay Panel
United States.
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 panel United States.
CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel
Canada.
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 panel Canada.
CEN4GEN Prostate cancer: Extended gene sequencing Panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Prostate cancer: Extended gene sequencing Panel that also includes the following genes: SCN11A SPOP TBX20 MED12 TP53 NIPA2 PDZRN3 CDKN1B CDKN2A KLF6
More info about this panel Canada.
Endocrine Cancer: gene sequencing Panel Panel
Canada.
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 panel Canada.
Hereditary Cancer Syndrome: Gene Sequencing Panel Panel
Canada.
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 panel Canada.
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