KLHL40 gene related symptoms and diseases
All the information presented here about the KLHL40 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to KLHL40 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Flexion contracture | Very Common - Between 80% and 100% cases |
| Abnormality of the thorax | Very Common - Between 80% and 100% cases |
| Dysphagia | Very Common - Between 80% and 100% cases |
| Hypokinesia | Very Common - Between 80% and 100% cases |
| Nemaline bodies | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with KLHL40 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Facial palsy
- Respiratory failure
Not very common - Between 30% and 50% cases
- Multiple prenatal fractures
- Axial muscle weakness
- Decreased fetal movement
- Increased connective tissue
- Type 1 muscle fiber predominance
- Breech presentation
And 21 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KLHL40 gene
Here you will find a list of rare diseases related to the KLHL40. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
NEMALINE MYOPATHY 8; NEM8
Description
Nemaline myopathy-8 is a severe autosomal recessive muscle disorder characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth. Most patients die in infancy. Skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils (summary by Ravenscroft et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).
Most common symptoms of NEMALINE MYOPATHY 8; NEM8
- Flexion contracture
- Dysphagia
- Myopathy
- Respiratory failure
- Facial palsy
More info about NEMALINE MYOPATHY 8; NEM8
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
Search interest in KLHL40
Potential gene panels for KLHL40 gene
Congenital Myopathy Advanced Sequencing Evaluation Panel
United States.
By Athena Diagnostics Inc Congenital Myopathy Advanced Sequencing Evaluation that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON TRIM32
More info about this panel United States.
Neuromuscular Disorders Panel Panel
United States.
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 panel United States.
Neuromuscular Disorders Sequencing Panel Panel
United States.
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 panel United States.
Congenital Myopathy Sequencing Panel Panel
United States.
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 panel United States.
Congenital Myopathy with Prominent Contractures Deletion/Duplication Analysis Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Myopathy with Prominent Contractures Deletion/Duplication Analysis that also includes the following genes: RYR1 SELENON SYNE2 SYNE1 COL6A1 COL6A2 COL6A3 TMEM43 KLHL40 EMD
More info about this panel United States.
Congenital Myopathy with Prominent Contractures Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Myopathy with Prominent Contractures Sequencing Panel that also includes the following genes: RYR1 SELENON SYNE2 SYNE1 COL6A1 COL6A2 COL6A3 TMEM43 KLHL40 EMD
More info about this panel United States.
Congenital Myopathy Deletion/Duplication Panel Panel
United States.
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 panel United States.
Nemaline Myopathy Sequencing Panel Panel
United States.
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 panel United States.
Nemaline Myopathy 8 Panel
Switzerland.
By Human Genetics University Hospital Bern
This panel specifically test the KLHL40 gene.
More info about this panel Switzerland.
Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Sequencing Panel with CNV Detection that also includes the following genes: CHRNA1 CHRND CHRNE CHRNG CNTN1 COLQ DOK7 KLHL40 GLE1 MUSK
More info about this panel United States.
Congenital Myopathy Sequencing Panel Panel
United States.
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 panel United States.
Nemaline Myopathy via KLHL40 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the KLHL40 gene.
More info about this panel United States.
Nemaline Myopathy Sequencing Panel with CNV Detection Panel
United States.
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 panel United States.
Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Fetal Concerns Sequencing Panel Sequencing Panel with CNV Detection that also includes the following genes: RIT1 SCN5A SLC17A5 BRAF SOS1 CBL SHOC2 KAT6B CHRNA1 CHRND
More info about this panel United States.
Comprehensive Neuromuscular Sequencing Panel Panel
United States.
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 panel United States.
Nemaline Myopathy related to KLHL40 Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the KLHL40 gene.
More info about this panel Germany.
Histological Structural Myopathy (Nemaline / Core / Centronuclear), Congenital Myopathy Panel
Germany.
By MGZ Medical Genetics Center Histological Structural Myopathy (Nemaline / Core / Centronuclear), Congenital Myopathy that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 ACTA1 CCDC78 SELENON CFL2 MTMR14
More info about this panel Germany.
Newborn: “Floppy Infant “ Panel
Germany.
By MGZ Medical Genetics Center Newborn: “Floppy Infant “ that also includes the following genes: RYR1 BIN1 SCN4A TCAP TNNT1 TPM2 TPM3 TTN UBA1 ACTA1
More info about this panel Germany.
Muscle Disease with Contractures and/or Rigid Spine Panel
Germany.
By MGZ Medical Genetics Center Muscle Disease with Contractures and/or Rigid Spine that also includes the following genes: RYR1 TNNT1 TPM2 TPM3 ACTA1 CAPN3 SELENON SYNE2 SYNE1 CFL2
More info about this panel Germany.
Muscle Weakness (Myopathy, Muscular Dystrophy) Panel
Germany.
By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5
More info about this panel Germany.
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.
Congenital Myopathy and Distal Myopathy NGS panel Panel
Estonia.
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 panel Estonia.
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 Nemaline Myopathy Panel Panel
United States.
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 panel United States.
Invitae Cardiomyopathy and Skeletal Muscle Disease Panel Panel
United States.
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 panel United States.
Invitae Congenital Myopathy Panel Panel
United States.
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 panel United States.
Invitae Comprehensive Myopathy Panel Panel
United States.
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 panel United States.
KLHL40 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KLHL40 gene.
More info about this panel United States.
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.
Nemaline Myopathy Panel Panel
Finland.
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 panel Finland.
Arthrogryposes Panel Panel
Finland.
By Blueprint Genetics Arthrogryposes Panel that also includes the following genes: BIN1 SCO2 TGFB3 TK2 TNNI2 TNNT1 TNNT3 TPM2 TPM3 VPS33B
More info about this panel Finland.
NEMALINE MYOPATHY NGS PANEL Panel
Spain.
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 panel Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PCARE SIK1 TBCK