CDKN2C gene related symptoms and diseases
All the information presented here about the CDKN2C 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 CDKN2C gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Thymoma | Very Common - Between 80% and 100% cases |
| Neuroendocrine neoplasm | Very Common - Between 80% and 100% cases |
| Extrahepatic cholestasis | Very Common - Between 80% and 100% cases |
| Epigastric pain | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CDKN2C gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Subcutaneous lipoma
- Adenoma sebaceum
- Pituitary prolactin cell adenoma
- Adrenocortical adenoma
- Adrenocortical carcinoma
- Parathyroid hyperplasia
- Schwannoma
- Carcinoid tumor
And 61 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CDKN2C gene
Here you will find a list of rare diseases related to the CDKN2C. 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
Search interest in CDKN2C
Potential gene panels for CDKN2C gene
FISH analysis of CKS1B/CDKN2C genes amplification/deletion Panel
By CGC Genetics FISH analysis of CKS1B/CDKN2C genes amplification/deletion that also includes the following genes: CDKN2C CKS1B
More info about this panelFluorescent in situ Hybridization - Hematopathology Panel
By Hartford Hospital Laboratory - Molecular Genetics and Cytogenetics Hartford Hospital-Hartford-CT-USA Fluorescent in situ Hybridization - Hematopathology that also includes the following genes: BCL6 BCR RUNX1 ABI1 TCF3 TP53 DLEU1 CRLF2 RUNX1T1 CBFB
More info about this panelCDKN2C Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CDKN2C gene.
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 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 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 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
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