KLHL41 gene related symptoms and diseases
All the information presented here about the KLHL41 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KLHL41 gene
Symptoms // Phenotype | % Cases |
---|---|
Arthrogryposis multiplex congenita | Very Common - Between 80% and 100% cases |
Flexion contracture | Very Common - Between 80% and 100% cases |
Facial diplegia | Common - Between 50% and 80% cases |
Polyhydramnios | Common - Between 50% and 80% cases |
Nemaline bodies | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with KLHL41 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Motor delay
- Type 1 muscle fiber predominance
- Scoliosis
- Hyporeflexia
- Micrognathia
- Hypokinesia
- Breech presentation
- Narrow chest
And 83 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KLHL41 gene
Here you will find a list of rare diseases related to the KLHL41. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NEMALINE MYOPATHY 9; NEM9
Description
Nemaline myopathy-9 is an autosomal recessive muscle disorder characterized by onset of muscle weakness in early infancy. The phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood. Muscle biopsy shows typical rod-like structure in myofibers (summary by Gupta et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.
Most common symptoms of NEMALINE MYOPATHY 9; NEM9
- Scoliosis
- Micrognathia
- Muscle weakness
- Cleft palate
- Flexion contracture
More info about NEMALINE MYOPATHY 9; NEM9
SOURCES: OMIM
CHILDHOOD-ONSET NEMALINE MYOPATHY
Alternate names
CHILDHOOD-ONSET NEMALINE MYOPATHY Is also known as mild nemaline myopathy
Description
Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.
Most common symptoms of CHILDHOOD-ONSET NEMALINE MYOPATHY
- Generalized hypotonia
- Scoliosis
- Hypertelorism
- Micrognathia
- Ptosis
More info about CHILDHOOD-ONSET NEMALINE MYOPATHY
SOURCES: ORPHANET
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
INTERMEDIATE NEMALINE MYOPATHY
Description
Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression.
Most common symptoms of INTERMEDIATE NEMALINE MYOPATHY
- Hypertelorism
- Low-set ears
- Flexion contracture
- Motor delay
- Skeletal muscle atrophy
More info about INTERMEDIATE NEMALINE MYOPATHY
SOURCES: ORPHANET
Search interest in KLHL41
Potential gene panels for KLHL41 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 panelCongenital Contractures Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Congenital Contractures Panel that also includes the following genes: SKI SLC18A3 TNNI2 TNNT3 TPM2 TPM3 UBA1 ZMPSTE24 ACTA1 ADGRG6
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 9 via KLHL41 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the KLHL41 gene.
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 panelKLHL41 Panel
By MGZ Medical Genetics Center
This panel specifically test the KLHL41 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 panelKLHL41 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KLHL41 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
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