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.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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

SOURCES: OMIM ORPHANET

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). Genetic Heterogeneity of Acute Lymphoblastic LeukemiaA susceptibility locus for acute lymphoblastic leukemia (ALL1) has been mapped to chromosome 10q21. See also ALL2 (OMIM ), which has been mapped to chromosome 7p12.2; and ALL3 (OMIM ), which is caused by mutation in the PAX5 gene (OMIM ) on chromosome 9p.

Most common symptoms of LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL

  • Neoplasm
  • Pain
  • Fever
  • Fatigue
  • Arthralgia


More info about LEUKEMIA, ACUTE LYMPHOBLASTIC; ALL

SOURCES: OMIM ORPHANET

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


Potential gene panels for NUP214 gene

RT-PCR t(6;9)(p23;q34)(DEK/CAN) Panel

Portugal.

By CGC Genetics RT-PCR t(6;9)(p23;q34)(DEK/CAN) that also includes the following genes: DEK NUP214

More info about this panel

NUP214 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NUP214 gene.

More info about this panel

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

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

Providence Personalized Medicine Panel - Solid Tumor Panel

United States.

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 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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RAP1GAP KCNA5 IL2RG CYP24A1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more