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.

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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

SOURCES: OMIM ORPHANET

ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO; ACTFS



More info about ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO; ACTFS

SOURCES: OMIM

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


Potential gene panels for MDM2 gene

Liposarcoma, well differentiated (sequence analysis of MDM2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MDM2 gene.

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

MDM2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MDM2 gene.

More info about this panel

COLOTRUE™ Panel

United States.

By Pathway Genomics COLOTRUE™ that also includes the following genes: BMPR1A STK11 EPCAM TP53 CDH1 APC SMAD4 MDM2 MLH1 MSH2

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

OmniSeq Comprehensive Panel

United States.

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 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

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 Breast cancer: Extended gene sequencing Panel Panel

Canada.

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 panel

CEN4GEN Lung cancer: Extended gene sequencing Panel Panel

Canada.

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 panel


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