ASPSCR1 gene related symptoms and diseases
All the information presented here about the ASPSCR1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ASPSCR1 gene
Symptoms // Phenotype | % Cases |
---|---|
Neoplasm | Uncommon - Between 30% and 50% cases |
Pain | Uncommon - Between 30% and 50% cases |
Headache | Uncommon - Between 30% and 50% cases |
Cough | Uncommon - Between 30% and 50% cases |
Chest pain | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ASPSCR1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Sarcoma
- Paraganglioma
- Soft tissue sarcoma
- Alveolar soft part sarcoma
Rare diseases associated to ASPSCR1 gene
Here you will find a list of rare diseases related to the ASPSCR1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ALVEOLAR SOFT TISSUE SARCOMA
Alternate names
ALVEOLAR SOFT TISSUE SARCOMA Is also known as alveolar soft part sarcoma, asps
Description
Alveolar soft part sarcoma is an unusual tumor with highly characteristic histopathology and ultrastructure, controversial histogenesis, and enigmatic clinical behavior (Lieberman et al., 1989; Ordonez, 1999). The typical histology of ASPS shows well-defined nests of cells with abundant pink cytoplasm. The loss of central cohesion produces a pseudoalveolar appearance (Ladanyi et al., 2001).
Most common symptoms of ALVEOLAR SOFT TISSUE SARCOMA
- Neoplasm
- Pain
- Headache
- Cough
- Chest pain
More info about ALVEOLAR SOFT TISSUE SARCOMA
MIT FAMILY TRANSLOCATION RENAL CELL CARCINOMA
Alternate names
MIT FAMILY TRANSLOCATION RENAL CELL CARCINOMA Is also known as carcinoma associated with mitf/tfe translocation, translocation renal cell carcinoma
Description
MiT family translocation renal cell carcinoma (t-RCC) is a rare subtype of renal cell carcinoma with recurrent genetic abnormalities, harboring rearrangements of the TFE3 (Xp11 t-RCC) or TFEB [t(6;11) t-RCC] genes. The t(6;11) t-RCC has distinctive histologic features of biphasic appearance with larger epitheloid and smaller eosinophilic cells. The symptoms are usually non-specific and include hematuria, flank pain, palpable abdominal mass and/or systemic symptoms of anemia, fatigue and fever.
More info about MIT FAMILY TRANSLOCATION RENAL CELL CARCINOMA
SOURCES: ORPHANET
Search interest in ASPSCR1
Potential gene panels for ASPSCR1 gene
ASPSCR1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ASPSCR1 gene.
More info about this panelHemato-oncology chromosomal microarray Panel
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 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 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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