CDKN2B gene related symptoms and diseases

All the information presented here about the CDKN2B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CDKN2B gene

Symptoms // Phenotype % Cases
Neoplasm of the pancreas Very Common - Between 80% and 100% cases
Seizures Uncommon - Between 30% and 50% cases
Fasting hyperinsulinemia Uncommon - Between 30% and 50% cases
Pituitary corticotropic cell adenoma Uncommon - Between 30% and 50% cases
Pituitary growth hormone cell adenoma Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with CDKN2B gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Increased urinary cortisol level
  • Zollinger-Ellison syndrome
  • Thyroid adenoma
  • Adrenocortical carcinoma
  • Neuroendocrine neoplasm
  • Neurofibrosarcoma
  • Extrahepatic cholestasis
  • Epigastric pain

And 71 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CDKN2B gene

Here you will find a list of rare diseases related to the CDKN2B. 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

FAMILIAL MELANOMA


Description

Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.

Most common symptoms of FAMILIAL MELANOMA

  • Retinopathy
  • Dry skin
  • Nevus
  • Abnormality of extrapyramidal motor function
  • Abnormality of the hair


More info about FAMILIAL MELANOMA

SOURCES: ORPHANET


Potential gene panels for CDKN2B gene

Melanoma (methylation and deletion/duplication analysis of CDKN2A and CDKN2B genes, sample of tumoral tissue) Panel

Portugal.

By CGC Genetics Melanoma (methylation and deletion/duplication analysis of CDKN2A and CDKN2B genes, sample of tumoral tissue) that also includes the following genes: CDKN2A CDKN2B

More info about this panel

Custom solid tumor gene sequencing panel Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center Custom solid tumor gene sequencing panel that also includes the following genes: SF3B1 FOXL2 BRAF TP53 TYRP1 XPC CCND1 CDK4 CDK6 CDKN2A

More info about this panel

Cancer Hotspot Panel Panel

Germany.

By Centogene AG - the Rare Disease Company Cancer Hotspot Panel that also includes the following genes: BCL6 ROS1 BRAF BRCA1 BRCA2 SMARCB1 SMO SRC STK11 HNF1A

More info about this panel

Melanoma, cutaneous malignant Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CDKN2B gene.

More info about this panel

CDKN2B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CDKN2B gene.

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

Focus::DLBCL&FL™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::DLBCL&FL™ NGS Panel that also includes the following genes: BCL6 SGK1 BRAF ARID1A BTK STAT3 STAT6 SYK TNFAIP3 FAS

More info about this panel

Focus::Lymphoma™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Lymphoma™ NGS Panel that also includes the following genes: BCL6 SGK1 BRAF ARID1A BTK STAT3 STAT6 SYK TNFAIP3 FAS

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

MELANOMA NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL MELANOMA NGS PANEL that also includes the following genes: BRCA1 BRCA2 TERT TP53 WRN POT1 CDK4 CDKN2A CDKN2B TERF2IP

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

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


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