VMA21 gene related symptoms and diseases
All the information presented here about the VMA21 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to VMA21 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Muscle weakness | Very Common - Between 80% and 100% cases |
| Myopathy | Very Common - Between 80% and 100% cases |
| Elevated serum creatine phosphokinase | Very Common - Between 80% and 100% cases |
| Neonatal hypotonia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with VMA21 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hypertrophic cardiomyopathy
- Generalized muscle weakness
- Autophagic vacuoles
- Generalized hypotonia
Not very common - Between 30% and 50% cases
- Bundle branch block
- Ventricular hypertrophy
- Left ventricular hypertrophy
- Progressive muscle weakness
And 28 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to VMA21 gene
Here you will find a list of rare diseases related to the VMA21. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY
Alternate names
X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY Is also known as xmea, vacuolar myopathy
Description
X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings.
Most common symptoms of X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY
- Global developmental delay
- Generalized hypotonia
- Muscle weakness
- Cardiomyopathy
- Myopathy
More info about X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY
MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX
Alternate names
MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX Is also known as xmea
Description
X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive skeletal muscle disorder characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles. While onset is usually in childhood, it can range from infancy to adulthood. Many patients lose ambulation and become wheelchair-bound. Other organ systems, including the heart, are clinically unaffected. Muscle biopsy shows intracytoplasmic autophagic vacuoles with sarcolemmal features and a multilayered basal membrane (summary by Ramachandran et al., 2013; Kurashige et al., 2013, and Ruggieri et al., 2015).Danon disease (OMIM ), caused by mutation in the LAMP2 gene (OMIM ) on chromosome Xq24, is a distinct disorder with similar pathologic features.
Most common symptoms of MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX
- Global developmental delay
- Generalized hypotonia
- Scoliosis
- Muscle weakness
- Flexion contracture
More info about MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX
SOURCES: OMIM
Search interest in VMA21
Potential gene panels for VMA21 gene
Myopathy, with excessive autophagy, X-linked (sequence analysis of VMA21 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the VMA21 gene.
More info about this panel Portugal.
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panel Portugal.
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panel Portugal.
Congenital and Distal Myopathies Panel Panel
Germany.
By CeGaT GmbH Congenital and Distal Myopathies Panel that also includes the following genes: RYR1 BIN1 STIM1 SUCLA2 TWNK TIA1 TK2 TNNT1 TPM2 TPM3
More info about this panel Germany.
Invitae Comprehensive Neuromuscular Disorders Panel Panel
United States.
By Invitae Invitae Comprehensive Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SMN1 SMN2 SQSTM1
More info about this panel United States.
Invitae Autophagic Vacuolar Myopathy Panel Panel
United States.
By Invitae Invitae Autophagic Vacuolar Myopathy Panel that also includes the following genes: VMA21 DES LAMP2
More info about this panel United States.
VMA21 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the VMA21 gene.
More info about this panel United States.
X-chromosome High Resolution microarray analysis Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
More info about this panel United States.
LGMD and Congenital Muscular Dystrophy Panel Panel
Finland.
By Blueprint Genetics LGMD and Congenital Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3
More info about this panel Finland.
Comprehensive Muscular Dystrophy / Myopathy Panel Panel
Finland.
By Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TNNT1 TPM2 TPM3 MYOT TTN
More info about this panel Finland.
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