EWSR1 gene related symptoms and diseases
All the information presented here about the EWSR1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to EWSR1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Neoplasm | Common - Between 50% and 80% cases |
| Weight loss | Uncommon - Between 30% and 50% cases |
| Sarcoma | Uncommon - Between 30% and 50% cases |
| Pain | Uncommon - Between 30% and 50% cases |
| Anemia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with EWSR1 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Chondrosarcoma
- Neoplasm of the lung
- Nausea and vomiting
- Lymphadenopathy
- Ascites
- Abdominal distention
- Cachexia
- Ovarian neoplasm
And 29 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to EWSR1 gene
Here you will find a list of rare diseases related to the EWSR1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
EWING SARCOMA
Description
Ewing's sarcoma is a malignant small round cell bone tumor with strong metastatic potential.
Most common symptoms of EWING SARCOMA
- Neoplasm
- Pain
- Anemia
- Fever
- Weight loss
More info about EWING SARCOMA
EXTRASKELETAL EWING SARCOMA
Alternate names
EXTRASKELETAL EWING SARCOMA Is also known as extraosseous ewing sarcoma, extraskeletal ewing tumor, eoe, extraosseous ewing tumor
Description
Extraskeletal Ewing sarcoma is a rare, poorly differentiated, highly malignant, soft tissue tumor, derived from neuroectoderm, that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations, with the most common being: chest wall, paravertebral region, abdominopelvic area (with predilection for the retroperitoneal space), gluteal region and lower extremities. Clinical presentation is highly variable and depends on tumor localization. Local recurrence is common and metastatic disease most frequently involves the bones and lungs.
More info about EXTRASKELETAL EWING SARCOMA
SOURCES: ORPHANET
DESMOPLASTIC SMALL ROUND CELL TUMOR
Alternate names
DESMOPLASTIC SMALL ROUND CELL TUMOR Is also known as dsrct
Description
Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.
Most common symptoms of DESMOPLASTIC SMALL ROUND CELL TUMOR
- Neoplasm
- Pain
- Anemia
- Hepatomegaly
- Constipation
More info about DESMOPLASTIC SMALL ROUND CELL TUMOR
EXTRASKELETAL MYXOID CHONDROSARCOMA
Alternate names
EXTRASKELETAL MYXOID CHONDROSARCOMA Is also known as emc
Description
Extraskeletal myxoid chondrosarcoma is a rare soft tissue neoplasm of chondroblastic origin. The tumors are most commonly found in middle-aged and elderly individuals, are more common among men, and are often detected as deep-seated lesions in the extremities. Despite their relatively low-grade malignancy, recurrence and metastasis may appear many years after the initial diagnosis. Histologic tissue section examination reveals a mixture of cellular and myxoid stromal components (Panagopoulos et al., 2002).
Most common symptoms of EXTRASKELETAL MYXOID CHONDROSARCOMA
- Neoplasm
- Chondrosarcoma
- Soft tissue neoplasm
More info about EXTRASKELETAL MYXOID CHONDROSARCOMA
MELANOMA OF SOFT TISSUE
Alternate names
MELANOMA OF SOFT TISSUE Is also known as clear cell sarcoma of the tendons and aponeuroses
More info about MELANOMA OF SOFT TISSUE
SOURCES: ORPHANET
Search interest in EWSR1
Potential gene panels for EWSR1 gene
Amyotrophic Lateral Sclerosis (ALS) Panel Panel
Germany.
By CeGaT GmbH Amyotrophic Lateral Sclerosis (ALS) Panel that also includes the following genes: ATXN1 ATXN2 SOD1 SPG11 SQSTM1 TAF15 TARDBP TBK1 TUBA4A UBQLN2
More info about this panel Germany.
EWSR1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the EWSR1 gene.
More info about this panel United States.
Hemato-oncology chromosomal microarray Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Hemato-oncology chromosomal microarray that also includes the following genes: BLM BRAF BRCA1 BRCA2 SMARCB1 KDM5C SMO ABI1 SSX1 SSX2
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.
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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