EZH2 gene related symptoms and diseases

All the information presented here about the EZH2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, 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 EZH2 gene

Symptoms // Phenotype	% Cases
Generalized hypotonia	Common - Between 50% and 80% cases
Retrognathia	Common - Between 50% and 80% cases
Spasticity	Common - Between 50% and 80% cases
Downslanted palpebral fissures	Common - Between 50% and 80% cases
Talipes equinovarus	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with EZH2 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Hypertonia
Long philtrum
Inguinal hernia
Pes cavus
Macrotia
Abnormally low-pitched voice
Micrognathia
Broad forehead

And 124 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to EZH2 gene

Here you will find a list of rare diseases related to the EZH2. 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

WEAVER SYNDROME

Alternate names

WEAVER SYNDROME Is also known as camptodactyly-overgrowth-unusual facies syndrome

Description

Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.

Most common symptoms of WEAVER SYNDROME

Intellectual disability
Global developmental delay
Scoliosis
Hypertelorism
Micrognathia

More info about WEAVER SYNDROME

SOURCES: ORPHANET

WEAVER SYNDROME; WVS

Alternate names

WEAVER SYNDROME; WVS Is also known as weaver-smith syndrome, wss

Description

Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome (OMIM ), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by Basel-Vanagaite, 2010).The 'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and son may be a separate entity.Sotos syndrome (OMIM ), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (OMIM ) on chromosome 5q35.

Most common symptoms of WEAVER SYNDROME; WVS

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Scoliosis

More info about WEAVER SYNDROME; WVS

SOURCES: OMIM

Search interest in EZH2

Potential gene panels for EZH2 gene

NGS Overgrowth/Macrocephaly Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Overgrowth/Macrocephaly Panel that also includes the following genes: MED12 NSD1 CDKN1C PHF6 UPF3B RNF135 CUL4B DNMT3A EZH2 GLI3

EZH2 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to EZH2 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to EZH2 gene

JUVENILE MYELOMONOCYTIC LEUKEMIA

Alternate names

Description

Most common symptoms of JUVENILE MYELOMONOCYTIC LEUKEMIA

WEAVER SYNDROME

Alternate names

Description

Most common symptoms of WEAVER SYNDROME

WEAVER SYNDROME; WVS

Alternate names

Description

Most common symptoms of WEAVER SYNDROME; WVS

Search interest in EZH2

Potential gene panels for EZH2 gene

NGS Overgrowth/Macrocephaly Panel Panel

Comprehensive Brain Malformation Panel Panel

Macrocephaly Panel

MyeloidDx by NGS Panel

MyeloidDx by NGS Panel

Macrocephaly Deletion/Duplication Panel Panel

EZH2 deletion/duplication analysis Panel

EZH2 sequencing Panel

Macrocephaly Sequencing Panel Panel

EZH2. Complete sequencing Panel

Weaver syndrome (sequence analysis of EZH2 gene) Panel

Macrocephaly (NGS panel for 16 genes) Panel

OncoRisk Plus (NGS panel for 89 genes) Panel

Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes) Panel

Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes) Panel

Weaver Syndrome via EZH2 Gene Sequencing with CNV Detection Panel

Weaver and Cohen-Gibson syndrome NGS panel Panel

Overgrowth syndrome NGS panel Panel

Overgrowth syndrome Comprehensive panel Panel

Weaver and Cohen-Gibson syndrome Deletion / Duplication panel Panel

Overgrowth syndrome Deletion / Duplication panel Panel

Weaver and Cohen-Gibson syndrome Comprehensive panel Panel

Sotos syndrome and related disorders Comprehensive panel Panel

Sotos syndrome and related disorders Deletion/Duplication panel Panel

Sotos syndrome and related disorders NGS panel Panel

Mental retardation - different panels Panel

Weaver Syndrome (EZH2) Panel

Macrocephaly Panel

EZH2-Related Overgrowth Panel

Mental Retardation and Dysmorphology - panels Panel

Hereditary Cancer Syndromes - panels Panel

Syndromal Diseases - panels Panel

Brain Malformations / Neuronal Migration Disorders Panel

Myeloid Tumor Panel Panel

Cancer Hotspot Panel Panel

Weaver syndrome Panel

Macrocephaly Panel Panel

Macrocephaly Panel Panel

NGS HemeOnc Panel Panel

qGenEx Craniofacial Anomalies Panel

Invitae Weaver Syndrome Test Panel

Invitae Overgrowth and Macrocephaly Syndromes Panel Panel

Weaver, syndrome: EZH2 gene sequence analysis Panel

Overgrowth syndrome Panel

Macrocephaly: Sequencing Panel Panel

EZH2 Panel

Comprehensive Cancer Panel Panel

Onco microarray for MDS/AML Panel

Hereditary Pediatric Cancer Panel Panel

Comprehensive Hereditary Cancer Panel Panel

Macrocephaly / Overgrowth Syndrome Panel Panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Focus::Myeloid™ NGS Panel Panel

Focus::Myeloid™ NGS Panel Panel

Focus::MDS™ NGS Panel Panel

Focus::MPN™ NGS Panel Panel

Focus::MCL™ NGS Panel Panel

Focus::AML™ NGS Panel Panel

Focus::DLBCL&FL™ NGS Panel Panel

Focus::Lymphoma™ NGS Panel Panel