NUP214 gene related symptoms and diseases
All the information presented here about the NUP214 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NUP214 gene
Symptoms // Phenotype | % Cases |
---|---|
Pain | Uncommon - Between 30% and 50% cases |
Neoplasm | Uncommon - Between 30% and 50% cases |
Fever | Uncommon - Between 30% and 50% cases |
Fatigue | Uncommon - Between 30% and 50% cases |
Bruising susceptibility | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with NUP214 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Leukemia
Rarely - Less than 30% cases
- Seizures
- Neuroblastoma
- Petechiae
- Myeloid leukemia
- Acute myeloid leukemia
- Acute monocytic leukemia
- Gingival bleeding
And 25 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NUP214 gene
Here you will find a list of rare diseases related to the NUP214. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
LEUKEMIA, ACUTE MYELOID; AML
Alternate names
LEUKEMIA, ACUTE MYELOID; AML Is also known as leukemia, acute myelogenous
Most common symptoms of LEUKEMIA, ACUTE MYELOID; AML
- Seizures
- Neoplasm
- Pain
- Anemia
- Fever
More info about LEUKEMIA, ACUTE MYELOID; AML
LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL
Description
Acute lymphoblastic leukemia (ALL), also known as acute lymphocytic leukemia, is a subtype of acute leukemia, a cancer of the white blood cells. Somatically acquired mutations in several genes have been identified in ALL lymphoblasts, cells in the early stages of differentiation. Germline variation in certain genes may also predispose to susceptibility to ALL (Trevino et al., 2009).
Most common symptoms of LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL
- Neoplasm
- Pain
- Fever
- Fatigue
- Arthralgia
More info about LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL
ACUTE MYELOID LEUKEMIA WITH T(6;9)(P23;Q34)
Alternate names
ACUTE MYELOID LEUKEMIA WITH T(6;9)(P23;Q34) Is also known as aml with t(6;9)(p23;q34)
Description
Acute myeloid leukemia with t(6;9)(p23;q34) is a rare subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported.
More info about ACUTE MYELOID LEUKEMIA WITH T(6;9)(P23;Q34)
SOURCES: ORPHANET
PRECURSOR T-CELL ACUTE LYMPHOBLASTIC LEUKEMIA
Alternate names
PRECURSOR T-CELL ACUTE LYMPHOBLASTIC LEUKEMIA Is also known as precursor t-cell acute lymphoblastic leukemia/lymphoma, t-all, precursor t-cell acute lymphocytic leukemia, precursor t-cell acute lymphocytic leukemia/lymphoma
More info about PRECURSOR T-CELL ACUTE LYMPHOBLASTIC LEUKEMIA
SOURCES: ORPHANET
Search interest in NUP214
Potential gene panels for NUP214 gene
RT-PCR t(6;9)(p23;q34)(DEK/CAN) Panel
By CGC Genetics RT-PCR t(6;9)(p23;q34)(DEK/CAN) that also includes the following genes: DEK NUP214
More info about this panelNUP214 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NUP214 gene.
More info about this panelOnco microarray for MDS/AML Panel
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 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 panelProvidence Personalized Medicine Panel - Solid Tumor Panel
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 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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