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.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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

SOURCES: OMIM ORPHANET

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

SOURCES: OMIM MESH ORPHANET

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

SOURCES: MESH ORPHANET


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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

CDKN1 Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the CDKN1B gene.

More info about this panel

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

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

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

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

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

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

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

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

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

CDKN1B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CDKN1B gene.

More info about this panel

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

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

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

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

Multiple endocrine neoplasia type IV Panel

Spain.

By Bioarray

This panel specifically test the CDKN1B gene.

More info about this panel

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

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

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

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

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

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

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

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

Multiple endocrine neoplasia, type 4 Panel

Germany.

By Labor Dr. Wisplinghoff

This panel specifically test the CDKN1B gene.

More info about this panel

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

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

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

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

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

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

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

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

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPG41 PCDH9 TMPRSS3 ARL6IP1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more