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.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

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.

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

Search interest in ASXL1

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

ASXL1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to ASXL1 gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rarely - Less than 30% cases

Rare diseases associated to ASXL1 gene

JUVENILE MYELOMONOCYTIC LEUKEMIA

Alternate names

Description

Most common symptoms of JUVENILE MYELOMONOCYTIC LEUKEMIA

ACUTE PROMYELOCYTIC LEUKEMIA

Alternate names

Description

Most common symptoms of ACUTE PROMYELOCYTIC LEUKEMIA

MYELODYSPLASTIC SYNDROME; MDS

Alternate names

Description

Most common symptoms of MYELODYSPLASTIC SYNDROME; MDS

BOHRING-OPITZ SYNDROME

Alternate names

Description

Most common symptoms of BOHRING-OPITZ SYNDROME

Search interest in ASXL1

Potential gene panels for ASXL1 gene

Juvenile Myelomonocytic Leukemia Panel

Craniosynostosis Panel

MyeloidDx by NGS Panel

Craniosynostosis Panel

Cornelia de Lange Seq Analysis Panel

Cornelia de Lange Seq + Del/Dup Panel Panel

Cornelia de Lange Del/Dup Panel Panel

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

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

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

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

Mental retardation - different panels Panel

Myeloid Tumor Panel Panel

Solid Tumor Panel Panel

Bohring-Opitz syndrome Panel

AllNeuro panel Panel

Single gene testing ASXL1 Panel

ASXL1 Mutation Analysis Panel

NGS HemeOnc Panel Panel

ASXL1 Panel

Onco microarray for MDS/AML Panel

Focus::Myeloid™ NGS Panel Panel

Focus::Myeloid™ NGS Panel Panel

Focus::MDS™ NGS Panel Panel

Focus::MPN™ NGS Panel Panel

Focus::AML™ NGS Panel Panel

Hematopoietic Disorders Gene Set Panel

Head & Neck Tumors Gene Set Panel

FoundationOne® Heme Panel

NeoTYPE® Discovery Profile for Solid Tumors Panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

Providence Personalized Medicine Panel - Solid Tumor Panel

Bohring-Opitz Syndrome , Sequencing ASXL1 Gene Panel

Somatic Myelodysplastic Syndrome , Sequencing ASXL1 Gene Panel

Somatic Myelodysplastic Syndrome , Sequencing Exon 13 ASXL1 Gene Panel

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

Tempus xT assay Panel

Tempus xO assay Panel

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

Bohring-Opitz Syndrome: gene sequencing Panel