MDM2 gene related symptoms and diseases
All the information presented here about the MDM2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MDM2 gene
Symptoms // Phenotype | % Cases |
---|---|
Neoplasm | Rare - less than 30% cases |
Monoclonal immunoglobulin M proteinemia | Rare - less than 30% cases |
Rhabdomyosarcoma | Rare - less than 30% cases |
Stomach cancer | Rare - less than 30% cases |
Soft tissue sarcoma | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with MDM2 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Adrenocortical carcinoma
- Lung adenocarcinoma
- Neoplasm of the nervous system
- Plethora
- Medulloblastoma
- Impaired lymphocyte transformation with phytohemagglutinin
- Neoplasm of the colon
- Neoplasm of the adrenal cortex
And 22 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MDM2 gene
Here you will find a list of rare diseases related to the MDM2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DEDIFFERENTIATED LIPOSARCOMA
Alternate names
DEDIFFERENTIATED LIPOSARCOMA Is also known as ddls
Description
Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS; see this term) that progresses from well-differentiated liposarcoma (WDLS; see this term), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS. .
More info about DEDIFFERENTIATED LIPOSARCOMA
SOURCES: ORPHANET
LI-FRAUMENI SYNDROME
Alternate names
LI-FRAUMENI SYNDROME Is also known as sarcoma family syndrome of li and fraumeni, sbla syndrome
Description
Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome characterized by the early-onset of multiple primary cancers such as breast cancer, soft tissue and bone sarcomas (see these terms), brain tumors and adrenal cortical carcinoma (ACC) (see this term).
Most common symptoms of LI-FRAUMENI SYNDROME
- Neoplasm
- Carcinoma
- Leukemia
- Lymphoma
- Neoplasm of the skin
More info about LI-FRAUMENI SYNDROME
ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO; ACTFS
WELL-DIFFERENTIATED LIPOSARCOMA
Alternate names
WELL-DIFFERENTIATED LIPOSARCOMA Is also known as alt, atypical lipoma, wdls, atypical lipomatous tumor
Description
Well-differentiated liposarcoma (WDLS), the most common type of liposarcoma (LS; see this term), is a slow growing, painless tumor usually located in the retroperitoneum or the limbs. It is composed of proliferating mature adipocytes.
Most common symptoms of WELL-DIFFERENTIATED LIPOSARCOMA
- Subcutaneous nodule
- Gastrointestinal dysmotility
- Abnormal renal physiology
More info about WELL-DIFFERENTIATED LIPOSARCOMA
SOURCES: ORPHANET
Search interest in MDM2
Potential gene panels for MDM2 gene
Liposarcoma, well differentiated (sequence analysis of MDM2 gene) Panel
By CGC Genetics
This panel specifically test the MDM2 gene.
More info about this panelCancer Hotspot Panel Panel
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 panelMDM2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MDM2 gene.
More info about this panelCOLOTRUE™ Panel
By Pathway Genomics COLOTRUE™ that also includes the following genes: BMPR1A STK11 EPCAM TP53 CDH1 APC SMAD4 MDM2 MLH1 MSH2
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 panelOmniSeq Comprehensive Panel
By OmniSeq, Inc. OmniSeq Comprehensive that also includes the following genes: RHEB BCL9 ROS1 RPS6KB1 SF3B1 FOXL2 BRAF BRCA1 BRCA2 SMARCB1
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 panel152 Integrated Advantage NGS Solid Tumor Panel Panel
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 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
More info about this panelCEN4GEN Breast cancer: Extended gene sequencing Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Breast cancer: Extended gene sequencing Panel that also includes the following genes: BRCA1 BRCA2 TP53 TRAF5 WEE1 PCGF2 KMT2C ITCH CBFB MUC16
More info about this panelCEN4GEN Lung cancer: Extended gene sequencing Panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Lung cancer: Extended gene sequencing Panel that also includes the following genes: ROS1 BRAF SMARCA4 SOX2 STK11 TP53 RUNX1T1 MUC16 FBXW7 CDKN2A
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like AGPAT2 ADNP FBN2 EGFR MSH6 PLS3 MIR3681HG