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.
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
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
Search interest in CDKN2B
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 Portugal.
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 United States.
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 Germany.
Melanoma, cutaneous malignant Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the CDKN2B gene.
More info about this panel Germany.
CDKN2B Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CDKN2B gene.
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.
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 United States.
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 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.
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 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.
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.
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