LMOD3 gene related symptoms and diseases
All the information presented here about the LMOD3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to LMOD3 gene
Symptoms // Phenotype | % Cases |
---|---|
Arthrogryposis multiplex congenita | Very Common - Between 80% and 100% cases |
Flexion contracture | Very Common - Between 80% and 100% cases |
Nemaline bodies | Very Common - Between 80% and 100% cases |
Polyhydramnios | Very Common - Between 80% and 100% cases |
Facial palsy | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with LMOD3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Facial diplegia
- Type 1 muscle fiber predominance
- Severe muscular hypotonia
- Decreased fetal movement
- Hypokinesia
- Premature birth
- Ophthalmoplegia
- Axial muscle weakness
And 52 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to LMOD3 gene
Here you will find a list of rare diseases related to the LMOD3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NEMALINE MYOPATHY 10; NEM10
Description
Nemaline myopathy-10 is an autosomal recessive severe congenital myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Many patients present antenatally with decreased fetal movements, and most die of respiratory failure in early infancy (summary by Yuen et al., 2014).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).
Most common symptoms of NEMALINE MYOPATHY 10; NEM10
- Generalized hypotonia
- Muscle weakness
- Flexion contracture
- Feeding difficulties
- Skeletal muscle atrophy
More info about NEMALINE MYOPATHY 10; NEM10
SOURCES: OMIM
SEVERE CONGENITAL NEMALINE MYOPATHY
Description
Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates.
Most common symptoms of SEVERE CONGENITAL NEMALINE MYOPATHY
- Low-set ears
- Flexion contracture
- Motor delay
- Skeletal muscle atrophy
- Dysphagia
More info about SEVERE CONGENITAL NEMALINE MYOPATHY
SOURCES: ORPHANET
TYPICAL NEMALINE MYOPATHY
Description
Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement.
Most common symptoms of TYPICAL NEMALINE MYOPATHY
- Scoliosis
- Micrognathia
- Ptosis
- Flexion contracture
- High palate
More info about TYPICAL NEMALINE MYOPATHY
SOURCES: ORPHANET
Search interest in LMOD3
Potential gene panels for LMOD3 gene
Neuromuscular Disorders Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2
More info about this panelNeuromuscular Disorders Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Neuromuscular Disorders Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 STIM1 SYT2
More info about this panelCongenital Myopathy Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Congenital Myopathy Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON
More info about this panelCongenital Myopathy Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Congenital Myopathy Deletion/Duplication Panel that also includes the following genes: RYR1 BIN1 SCN4A TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON
More info about this panelNemaline Myopathy Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Nemaline Myopathy Sequencing Panel that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 KLHL41 CFL2 KLHL40 KBTBD13 LMOD3 NEB
More info about this panelCongenital Myopathy Sequencing Panel Panel
By PreventionGenetics PreventionGenetics Congenital Myopathy Sequencing Panel that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 MICU1 SELENON
More info about this panelNemaline Myopathy Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Nemaline Myopathy Sequencing Panel with CNV Detection that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 KLHL41 CFL2 KLHL40 KBTBD13 LMOD3 NEB
More info about this panelComprehensive Neuromuscular Sequencing Panel Panel
By PreventionGenetics PreventionGenetics Comprehensive Neuromuscular Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 SQSTM1 STIM1
More info about this panelNemaline Myopathy 10 via LMOD3 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the LMOD3 gene.
More info about this panelCongenital and Distal Myopathies Panel Panel
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 panelCongenital Myopathy and Distal Myopathy NGS panel Panel
By Asper Biogene Asper Biogene LLC Congenital Myopathy and Distal Myopathy NGS panel that also includes the following genes: RYR1 SQSTM1 TIA1 TNNT1 TPM2 TPM3 MYOT TTN VCP ACTA1
More info about this panelInvitae Comprehensive Neuromuscular Disorders Panel Panel
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 panelInvitae Nemaline Myopathy Panel Panel
By Invitae Invitae Nemaline Myopathy Panel that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 KLHL41 CFL2 MYPN KLHL40 KBTBD13 LMOD3
More info about this panelInvitae Cardiomyopathy and Skeletal Muscle Disease Panel Panel
By Invitae Invitae Cardiomyopathy and Skeletal Muscle Disease Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN5A SGCA SGCB SGCD SGCG SLC22A5 SQSTM1
More info about this panelInvitae Congenital Myopathy Panel Panel
By Invitae Invitae Congenital Myopathy Panel that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON KLHL41
More info about this panelInvitae Comprehensive Myopathy Panel Panel
By Invitae Invitae Comprehensive Myopathy Panel that also includes the following genes: RYR1 BIN1 SCN4A SQSTM1 STIM1 TIA1 TNNT1 TPM2 TPM3 MYOT
More info about this panelLMOD3 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the LMOD3 gene.
More info about this panelComprehensive Muscular Dystrophy / Myopathy Panel Panel
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 panelNemaline Myopathy Panel Panel
By Blueprint Genetics Nemaline Myopathy Panel that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 KLHL41 CFL2 KLHL40 KBTBD13 LMOD3 MTM1
More info about this panelNEMALINE MYOPATHY NGS PANEL Panel
By Laboratorio de Genetica Clinica SL NEMALINE MYOPATHY NGS PANEL that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 KLHL41 CFL2 KLHL40 KBTBD13 LMOD3 NEB
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like GRM3 DLX5 NEB BEST1 WIPF1 KCNAB2 NPRL3