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.
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
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
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
Search interest in NPM1
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 United States.
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 United States.
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 United States.
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 Portugal.
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 Portugal.
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 United States.
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 Germany.
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 Germany.
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 Germany.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Spain.
NPM1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NPM1 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.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Greece.
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 United States.
Circulo Hematological Panel
United States.
By Circulogene Theranostics
This panel specifically test the NPM1 gene.
More info about this panel United States.
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 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.
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 United States.
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 Spain.
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 United States.
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 United States.
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 Spain.
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 Spain.
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 Spain.
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 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.
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 Canada.
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 Canada.
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 United States.
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