RPN1 gene related symptoms and diseases
All the information presented here about the RPN1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Rare diseases associated to RPN1 gene
Here you will find a list of rare diseases related to the RPN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ACUTE MYELOID LEUKEMIA WITH INV3(Q21;Q26.2) OR T(3;3)(Q21;Q26.2)
Alternate names
ACUTE MYELOID LEUKEMIA WITH INV3(Q21;Q26.2) OR T(3;3)(Q21;Q26.2) Is also known as aml with inv3(q21;q26.2) or t(3;3)(q21;q26.2)
Description
Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2) is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts in the bone marrow, blood and, rarely, other tissues. Bone marrow typically shows small, hypolobated megakaryocytes and multilineage dyslplasia. Patients typically present with leukocytosis, anemia, variable platelet counts and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding, bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). High resistance to conventional chemotherapy is reported.
More info about ACUTE MYELOID LEUKEMIA WITH INV3(Q21;Q26.2) OR T(3;3)(Q21;Q26.2)
SOURCES: ORPHANET
Search interest in RPN1
Potential gene panels for RPN1 gene
Detection by FISH of RPN1/MECOM (inv/t(3)) Panel
Portugal.
By CGC Genetics Detection by FISH of RPN1/MECOM (inv/t(3)) that also includes the following genes: RPN1 MECOM
More info about this panel Portugal.
RPN1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RPN1 gene.
More info about this panel United States.
Onco microarray for MDS/AML Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center Onco microarray for MDS/AML that also includes the following genes: BCR RPN1 RUNX1 SET TCF3 TERT TFG TP53 TRPS1 WT1
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 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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