NPM1 gene related symptoms and diseases

All the information presented here about the NPM1 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.

Top 5 symptoms and clinical features associated to NPM1 gene

Symptoms // Phenotype % Cases
Leukemia Rare - less than 30% cases
Acute promyelocytic leukemia Rare - less than 30% cases
Bruising susceptibility Rare - less than 30% cases
Coma Rare - less than 30% cases
Pancytopenia Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with NPM1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Leukopenia
  • Sarcoma
  • Myelodysplasia
  • Menorrhagia
  • Petechiae
  • Myeloid leukemia
  • Acute myeloid leukemia
  • Neuroblastoma

And 23 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NPM1 gene

Here you will find a list of rare diseases related to the NPM1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ACUTE PROMYELOCYTIC LEUKEMIA


Alternate names

ACUTE PROMYELOCYTIC LEUKEMIA Is also known as acute myeloid leukemia with t(15;17)(q22;q12);(pml/raralpha) and variants, acute myeloblastic leukemia 3, apml, aml m3, aml with t(15;17)(q22;q12);(pml/raralpha) and variants, leukemia, acute promyelocytic

Description

Acute promyelocytic leukemia (APL) is an aggressive form of acute myeloid leukemia (AML; see this term), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue.

Most common symptoms of ACUTE PROMYELOCYTIC LEUKEMIA

  • Leukemia
  • Acute promyelocytic leukemia
  • Abnormal granulocytopoietic cell morphology


More info about ACUTE PROMYELOCYTIC LEUKEMIA

SOURCES: OMIM ORPHANET MESH

ACUTE MYELOBLASTIC LEUKEMIA WITHOUT MATURATION


Alternate names

ACUTE MYELOBLASTIC LEUKEMIA WITHOUT MATURATION Is also known as aml m1, acute myeloblastic leukemia m1

Description

Acute myeloblastic leukemia without maturation is a rare, acute myeloid leukemia characterized by no significant myeloid maturation and more than 90% blast cells in the non-erythroid population. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially hepatosplenomegaly.


More info about ACUTE MYELOBLASTIC LEUKEMIA WITHOUT MATURATION

SOURCES: ORPHANET

ACUTE MYELOBLASTIC LEUKEMIA WITH MATURATION


Alternate names

ACUTE MYELOBLASTIC LEUKEMIA WITH MATURATION Is also known as acute myeloblastic leukemia m2, aml m2

Description

Acute myeloblastic leukemia with maturation is a rare, acute myeloid leukemia characterized by evidence of granulocytic maturation and more than 20% of blast cells in the bone marrow and/or peripheral blood. The maturing non-blast granulocytic cells account for greater than or equal to 10% and monocytic cells less than or equal to 20% of the bone marrow cells. Various degrees of anemia, thrombocytopenia, or pancytopenia are present. Frequent clinical manifestations include fatigue, fever, bleeding disorders, and organomegaly, especially hepatosplenomegaly.


More info about ACUTE MYELOBLASTIC LEUKEMIA WITH MATURATION

SOURCES: ORPHANET

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

LYMPHOMATOID PAPULOSIS


Alternate names

LYMPHOMATOID PAPULOSIS Is also known as lyp

Description

Lymphomatoid papulosis (LyP) is a rare cutaneous condition characterized by chronic, recurrent, and self-regressing papulonodular skin eruptions. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders, along with primary cutaneous anaplastic large cell lymphoma (primary C-ALCL; see this term) with which it shares overlapping clinical and histopathologic features.


More info about LYMPHOMATOID PAPULOSIS

SOURCES: ORPHANET

PRIMARY CUTANEOUS ANAPLASTIC LARGE CELL LYMPHOMA


Alternate names

PRIMARY CUTANEOUS ANAPLASTIC LARGE CELL LYMPHOMA Is also known as primary c-alcl, regressive atypical histiocytosis

Description

Primary cutaneous anaplastic large cell lymphoma (C-ALCL) is a rare T-cell non-Hodgkin lymphoma that affects the skin and generally shows no extracutaneous involvement at presentation. It belongs to the spectrum of primary cutaneous CD30+ lymphoproliferative disorders along with lymphomatoid papulosis (see this term) with which it shares overlapping clinical and histopathologic features.


More info about PRIMARY CUTANEOUS ANAPLASTIC LARGE CELL LYMPHOMA

SOURCES: ORPHANET

ACUTE MYELOID LEUKEMIA WITH NPM1 SOMATIC MUTATIONS


Alternate names

ACUTE MYELOID LEUKEMIA WITH NPM1 SOMATIC MUTATIONS Is also known as aml with npm1 somatic mutations

Description

Acute myeloid leukemia with NPM1 somatic mutations is a subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. Patients usually present with leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy.


More info about ACUTE MYELOID LEUKEMIA WITH NPM1 SOMATIC MUTATIONS

SOURCES: ORPHANET


Potential gene panels for NPM1 gene

NPM1 genotyping Panel

United States.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories

This panel specifically test the NPM1 gene.

More info about this panel

MyeloidDx by NGS Panel

United States.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories MyeloidDx by NGS that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1

More info about this panel

MyeloidDx by NGS Panel

United States.

By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories MyeloidDx by NGS that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1

More info about this panel

Acute myeloid leukemia (sequence analysis of exon 12 of NPM1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NPM1 gene.

More info about this panel

RT-PCR t(5;17)(q35;q21) NPM/RARA Panel

Portugal.

By CGC Genetics RT-PCR t(5;17)(q35;q21) NPM/RARA that also includes the following genes: NPM1 RARA

More info about this panel

FLT3 ITD, NPM1 targeted mutation testing Panel

United States.

By Molecular Diagnostics Laboratory University of Toledo Medical Center FLT3 ITD, NPM1 targeted mutation testing that also includes the following genes: FLT3 NPM1

More info about this panel

Myeloid Tumor Panel Panel

Germany.

By Centogene AG - the Rare Disease Company Myeloid Tumor Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1

More info about this panel

Cancer Hotspot Panel Panel

Germany.

By Centogene AG - the Rare Disease Company Cancer Hotspot Panel that also includes the following genes: BCL6 ROS1 BRAF BRCA1 BRCA2 SMARCB1 SMO SRC STK11 HNF1A

More info about this panel

Leukemia, myeloid acute form Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NPM1 gene.

More info about this panel

NGS HemeOnc Panel Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti NGS HemeOnc Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 TP53 U2AF1 WT1 CBL SETBP1 PHF6 ASXL1

More info about this panel

NPM1 Mutation Analysis Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti

This panel specifically test the NPM1 gene.

More info about this panel

AML post-FLT3 Comprehensive Mutation Panel Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti AML post-FLT3 Comprehensive Mutation Panel that also includes the following genes: CEBPA DNMT3A IDH1 IDH2 NPM1

More info about this panel

AML Mutation Panel Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti AML Mutation Panel that also includes the following genes: CEBPA FLT3 NPM1

More info about this panel

AML Mutation Panel - Reflex Panel

United States.

By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti AML Mutation Panel - Reflex that also includes the following genes: CEBPA FLT3 NPM1

More info about this panel

Acute myeloid leukemia: exon 12, NPM1 gene Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the NPM1 gene.

More info about this panel

NPM1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NPM1 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

Focus::Myeloid™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Myeloid™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1

More info about this panel

Focus::Myeloid™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::Myeloid™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF SMC1A STAG2 TP53 U2AF1 KDM6A WT1

More info about this panel

Focus::AML™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::AML™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF STAG2 TP53 U2AF1 KDM6A WT1 CALR

More info about this panel

Hematopoietic Disorders Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Hematopoietic Disorders Gene Set that also includes the following genes: RUNX1 SF3B1 SRSF2 BRAF STAG2 TERT TP53 U2AF1 KDM6A NSD1

More info about this panel

Nucleophosmin 1 Panel

United States.

By Tulane Hayward Genetics Center Molecular Diagnostics Lab Tulane University

This panel specifically test the NPM1 gene.

More info about this panel

FoundationOne® Heme Panel

United States.

By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1

More info about this panel

Guardant360 Panel

United States.

By Guardant Health Guardant360 that also includes the following genes: RHEB RIT1 ROS1 BRAF BRCA1 BRCA2 ARID1A SMO STK11 HNF1A

More info about this panel

Comprehensive Panel for Individualized Cancer Threatment Panel

Greece.

By GeneKor MSA Comprehensive Panel for Individualized Cancer Threatment that also includes the following genes: ROS1 BRAF SMARCB1 SMO SRC HNF1A TP53 VHL FBXW7 CDH1

More info about this panel

Cancer Hotspot Analysis Panel

United States.

By Advanced Technology Laboratory Spectrum Health Cancer Hotspot Analysis that also includes the following genes: BRAF SMARCB1 SMO SRC STK11 HNF1A TP53 VHL FBXW7 CDH1

More info about this panel

Circulo Hematological Panel

United States.

By Circulogene Theranostics

This panel specifically test the NPM1 gene.

More info about this panel

NeoTYPE® Discovery Profile for Solid Tumors Panel

United States.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2

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

OmniSeq Comprehensive Panel

United States.

By OmniSeq, Inc. OmniSeq Comprehensive that also includes the following genes: RHEB BCL9 ROS1 RPS6KB1 SF3B1 FOXL2 BRAF BRCA1 BRCA2 SMARCB1

More info about this panel

LEUKEMIA, ACUTE MYELOGENOUS Panel

Spain.

By Laboratorio de Genetica Clinica SL LEUKEMIA, ACUTE MYELOGENOUS that also includes the following genes: KRAS NPM1 NRAS

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

Myeloid AML Targeted Panel?, Sequencing Panel

United States.

By Providence Regional Laboratories Providence Health and Services Myeloid AML Targeted Panel?, Sequencing that also includes the following genes: CEBPA FLT3 IDH1 IDH2 NPM1

More info about this panel

Nucleophosmin, Sequencing Exon 12 NPM1 Gene Whole Blood Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the NPM1 gene.

More info about this panel

Nucleophosmin, Sequencing Exon 12 NPM1 Gene Bone Marrow Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the NPM1 gene.

More info about this panel

Acute Myeloid Leukemia (Susceptibility to) , Panel Massive Sequencing (NGS) 21 Genes Panel

Spain.

By Reference Laboratory Genetics Acute Myeloid Leukemia (Susceptibility to) , Panel Massive Sequencing (NGS) 21 Genes that also includes the following genes: RUNX1 SH3GL1 TERC TERT TP53 WT1 NSD1 CBFB PICALM ASXL1

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

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

CEN4GEN Hematological malignancies (somatic genetic testing): Sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Hematological malignancies (somatic genetic testing): Sequencing Panel that also includes the following genes: RUNX1 BRAF TP53 ASXL1 CEBPA TET2 DNMT3A FLT3 ALK IDH1

More info about this panel

CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel that also includes the following genes: BRAF SMARCB1 SMO SRC STK11 HNF1A TP53 VHL FBXW7 CDH1

More info about this panel

PrimBio Cancer HotSpot Panel Panel

United States.

By PrimBio Research Institute PrimBio Research Institute PrimBio Cancer HotSpot Panel that also includes the following genes: BRAF SMARCB1 SMO SRC STK11 HNF1A TP53 VHL FBXW7 CDH1

More info about this panel


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