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


Potential gene panels for KLHL41 gene

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.

Congenital Contractures Panel Panel

United States.

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 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 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.

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 9 via KLHL41 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the KLHL41 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.

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.

KLHL41 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the KLHL41 gene.

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.

KLHL41 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KLHL41 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.

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.

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