ASXL1 gene related symptoms and diseases

All the information presented here about the ASXL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ASXL1 gene

Symptoms // Phenotype % Cases
Leukemia Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Refractory anemia Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Myelodysplasia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with ASXL1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Myeloid leukemia
  • Acute myeloid leukemia
  • Acute monocytic leukemia
  • Rarely - Less than 30% cases

  • High myopia
  • Intellectual disability, profound
  • Interphalangeal joint contracture of finger
  • Hypertrichosis
  • Heterotopia

And 136 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ASXL1 gene

Here you will find a list of rare diseases related to the ASXL1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


JUVENILE MYELOMONOCYTIC LEUKEMIA


Alternate names

JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as juvenile chronic myelomonocytic leukemia, jmml, leukemia, juvenile myelomonocytic

Description

Juvenile myelomonocytic leukemia is an aggressive pediatric myelodysplastic syndrome (MDS)/myeloproliferative disorder (MPD) characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny (Loh et al., 2009). JMML constitutes approximately 30% of childhood cases of myelodysplastic syndrome and 2% of leukemia (Hasle et al., 1999). Although JMML is a progressive and often rapidly fatal disease without hematopoietic stem cell transplantation (HSCT), some patients have been shown to have a prolonged and stable clinical course without HSCT (Niemeyer et al., 1997). Chronic myelomonocytic leukemia (CMML) is a similar disorder with later onset. Both JMML and CMML have a high frequency of mutations affecting the RAS signaling pathway and show hypersensitivity to stimulation with GM-CSF, which causes STAT5 (OMIM ) hyperphosphorylation (Loh et al., 2009). Genetic Heterogeneity of Juvenile Myelomonocytic LeukemiaIn up to 60% of cases of JMML, the RAS/MAPK pathway is deregulated due to somatic mutations in the PTPN11 (OMIM ), KRAS (OMIM ), and NRAS (OMIM ) genes. Additionally, both germline and somatic mutations in the CBL gene have been found in patients with JMML, indicating a frequency of 10 to 15% of JMML patients overall (Loh et al., 2009). Somatic disruptions of the GRAF gene (ARHGAP26 ) have also been found in patients with JMML.About 10 to 15% of JMML cases arise in children with neurofibromatosis type I (NF1 ) due to germline mutations in the NF1 gene (OMIM ). In addition, patients with Noonan syndrome (NS1, {163950}; NS3, {609942}) or Noonan syndrome-like disorder (NSLL ) due to germline mutations in the PTPN11, KRAS2, and CBL genes, respectively, also have an increased risk of developing JMML. Genetic Heterogeneity of Chronic Myelomonocytic LeukemiaSomatic mutations in the CBL, ASXL1 (OMIM ), TET2 (OMIM ), and SF3B1 (OMIM ) genes have been found in patients with CMML.

Most common symptoms of JUVENILE MYELOMONOCYTIC LEUKEMIA

  • Generalized hypotonia
  • Abnormal facial shape
  • Anemia
  • Anteverted nares
  • Splenomegaly


More info about JUVENILE MYELOMONOCYTIC LEUKEMIA

SOURCES: ORPHANET MESH OMIM

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

MYELODYSPLASTIC SYNDROME; MDS


Alternate names

MYELODYSPLASTIC SYNDROME; MDS Is also known as myelodysplastic syndrome, susceptibility to, included

Description

Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, most commonly anemia, and a risk of progression to acute myeloid leukemia (AML ). Blood smears and bone marrow biopsies show dysplastic changes in myeloid cells, with abnormal proliferation and differentiation of 1 or more lineages (erythroid, myeloid, megakaryocytic). MDS can be subdivided into several categories based on morphologic characteristics, such as low-grade refractory anemia (RA) or high-grade refractory anemia with excess blasts (RAEB). Bone marrow biopsies of some patients show ringed sideroblasts (RARS), which reflects abnormal iron staining in mitochondria surrounding the nucleus of erythrocyte progenitors (summary by Delhommeau et al., 2009 and Papaemmanuil et al., 2011).

Most common symptoms of MYELODYSPLASTIC SYNDROME; MDS

  • Anemia
  • Leukemia
  • Myelodysplasia
  • Myeloid leukemia
  • Acute myeloid leukemia


More info about MYELODYSPLASTIC SYNDROME; MDS

SOURCES: OMIM ORPHANET

BOHRING-OPITZ SYNDROME


Alternate names

BOHRING-OPITZ SYNDROME Is also known as c-like syndrome, bos syndrome, bohring syndrome, oberklaid-danks syndrome, opitz trigonocephaly-like syndrome

Description

Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.

Most common symptoms of BOHRING-OPITZ SYNDROME

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about BOHRING-OPITZ SYNDROME

SOURCES: MESH OMIM ORPHANET


Potential gene panels for ASXL1 gene

Juvenile Myelomonocytic Leukemia Panel

United States.

By UCSF Molecular Diagnostics Laboratory University of California, San Francisco Juvenile Myelomonocytic Leukemia that also includes the following genes: CBL SETBP1 RRAS2 ASXL1 SH2B3 JAK3 KRAS NF1 NRAS PTPN11

More info about this panel

Craniosynostosis Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Craniosynostosis that also includes the following genes: SKI TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 ASXL1 WDR19 WDR35 IFT43

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

Craniosynostosis Panel

United States.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Craniosynostosis that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45

More info about this panel

Cornelia de Lange Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cornelia de Lange Seq Analysis that also includes the following genes: SMC1A HDAC8 ASXL1 ANKRD11 SMC3 NIPBL ASXL3 RAD21

More info about this panel

Cornelia de Lange Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cornelia de Lange Seq + Del/Dup Panel that also includes the following genes: SMC1A HDAC8 ASXL1 ANKRD11 SMC3 NIPBL ASXL3 RAD21

More info about this panel

Cornelia de Lange Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cornelia de Lange Del/Dup Panel that also includes the following genes: SMC1A HDAC8 ASXL1 ANKRD11 SMC3 NIPBL ASXL3 RAD21

More info about this panel

Bohring-Opitz syndrome (sequence analysis of ASXL1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ASXL1 gene.

More info about this panel

Myeloproliferative/myelodysplastic disorder (sequence analysis of ASXL1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ASXL1 gene.

More info about this panel

Bohring-Opitz Syndrome via ASXL1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ASXL1 gene.

More info about this panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

More info about this panel

Mental retardation - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10

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

Solid Tumor Panel Panel

Germany.

By Centogene AG - the Rare Disease Company Solid Tumor Panel that also includes the following genes: ROS1 BRAF SMARCA4 SMARCB1 ARID1A SMO STK11 TP53 TSC1 KDM6A

More info about this panel

Bohring-Opitz syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ASXL1 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Single gene testing ASXL1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the ASXL1 gene.

More info about this panel

ASXL1 Mutation Analysis Panel

United States.

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

This panel specifically test the ASXL1 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

ASXL1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ASXL1 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::MDS™ NGS Panel Panel

United States.

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

More info about this panel

Focus::MPN™ NGS Panel Panel

United States.

By Cancer Genetics, Inc. Cancer Genetics, Inc. Focus::MPN™ NGS Panel that also includes the following genes: RUNX1 SF3B1 SRSF2 TP53 U2AF1 CALR CBL SETBP1 ASXL1 CEBPA

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

Head & Neck Tumors Gene Set Panel

United States.

By Genomics and Pathology Services Washington University in St. Louis Head & Neck Tumors Gene Set that also includes the following genes: BRCA1 BRCA2 TGFBR2 TP53 KDM6A KMT2C NSD1 CCND1 FBXW7 CDKN2A

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

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

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

Bohring-Opitz Syndrome , Sequencing ASXL1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ASXL1 gene.

More info about this panel

Somatic Myelodysplastic Syndrome , Sequencing ASXL1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ASXL1 gene.

More info about this panel

Somatic Myelodysplastic Syndrome , Sequencing Exon 13 ASXL1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ASXL1 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

Bohring-Opitz Syndrome: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the ASXL1 gene.

More info about this panel


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