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
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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

SOURCES: OMIM ORPHANET

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


Potential gene panels for ASPSCR1 gene

ASPSCR1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ASPSCR1 gene.

More info about this panel

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

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

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


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