LRSAM1 gene related symptoms and diseases

All the information presented here about the LRSAM1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to LRSAM1 gene

Symptoms // Phenotype % Cases
Ataxia Very Common - Between 80% and 100% cases
Fasciculations Very Common - Between 80% and 100% cases
Axonal degeneration/regeneration Very Common - Between 80% and 100% cases
Impaired distal vibration sensation Very Common - Between 80% and 100% cases
Progressive distal muscle weakness Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with LRSAM1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Difficulty standing
  • Decreased number of peripheral myelinated nerve fibers
  • Axonal degeneration
  • Impotence
  • Decreased motor nerve conduction velocity
  • Steppage gait
  • Toe walking
  • Hammertoe

And 20 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to LRSAM1 gene

Here you will find a list of rare diseases related to the LRSAM1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CHARCOT-MARIE-TOOTH DISEASE TYPE 2P


Alternate names

CHARCOT-MARIE-TOOTH DISEASE TYPE 2P Is also known as cmt2p, charcot-marie-tooth disease, axonal, type 2g, formerly, cmt2g, formerly, charcot-marie-tooth neuropathy, type 2p

Description

Charcot-Marie-Tooth disease type 2P is a rare, genetic, axonal hereditary motor and sensory neuropathy disorder characterized by adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated.

Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE TYPE 2P

  • Ataxia
  • Muscle weakness
  • Pain
  • Peripheral neuropathy
  • Skeletal muscle atrophy


More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 2P

SOURCES: OMIM ORPHANET


Potential gene panels for LRSAM1 gene

Charcot-Marie-Tooth Hereditary Neuropathy Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Charcot-Marie-Tooth Hereditary Neuropathy Panel that also includes the following genes: SBF1 SLC12A6 SPG11 SURF1 TFG VCP YARS PRX BSCL2 GDAP1

More info about this panel

Charcot-Marie-Tooth Syndrome Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Charcot-Marie-Tooth Syndrome that also includes the following genes: SPTLC1 YARS PRX BSCL2 GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4

More info about this panel

Ataxia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2

More info about this panel

Charcot Marie Tooth Panel Panel

Argentina.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Charcot Marie Tooth Panel that also includes the following genes: SPTLC1 TTR PRX GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4

More info about this panel

Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies, PMP22 Deletion/Duplication with Reflex to Sequencing Panel that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX

More info about this panel

Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Charcot-Marie-Tooth (CMT) and Related Hereditary Neuropathies Panel, Sequencing that also includes the following genes: SBF1 SCN9A SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TFG YARS PRX

More info about this panel

Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) Panel

Portugal.

By CGC Genetics Hereditary peripheral neuropathies, including Charcot-Marie-Tooth disease (NGS panel for 74 genes) that also includes the following genes: SBF1 SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2 TWNK

More info about this panel

Charcot-Marie-Tooth disease (NGS panel for 43 genes) Panel

Portugal.

By CGC Genetics Charcot-Marie-Tooth disease (NGS panel for 43 genes) that also includes the following genes: SBF1 YARS PRX GDAP1 TRIM2 KIF1B LITAF FIG4 MFN2 TRPV4

More info about this panel

Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Charcot Marie Tooth - Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: SBF1 YARS PRX GDAP1 TRIM2 LITAF FIG4 MFN2 TRPV4 FGD4

More info about this panel

Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Charcot Marie Tooth - Axonal Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SBF1 PRX GDAP1 TRIM2 FIG4 MFN2 TRPV4 FGD4 AARS GNB4

More info about this panel

Comprehensive Neuropathy Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Neuropathy Sequencing Panel with CNV Detection that also includes the following genes: SBF1 SCN9A SLC12A6 ATL1 SPTLC1 SPTLC2 TFG TTR YARS PRX

More info about this panel

Charcot-Marie-Tooth disease Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Charcot-Marie-Tooth disease Deletion / Duplication panel that also includes the following genes: SBF1 TFG YARS PRX BSCL2 GDAP1 TRIM2 KIF1B LITAF FIG4

More info about this panel

Charcot-Marie-Tooth disease NGS panel Panel

United States.

By Connective Tissue Gene Tests Charcot-Marie-Tooth disease NGS panel that also includes the following genes: SBF1 TFG YARS PRX BSCL2 GDAP1 TRIM2 KIF1B LITAF FIG4

More info about this panel

Charcot-Marie-Tooth disease Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Charcot-Marie-Tooth disease Comprehensive panel that also includes the following genes: SBF1 TFG YARS PRX BSCL2 GDAP1 TRIM2 KIF1B LITAF FIG4

More info about this panel

LRSAM1 Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the LRSAM1 gene.

More info about this panel

Neuropathy Panel

Germany.

By MGZ Medical Genetics Center Neuropathy that also includes the following genes: SACS SCN10A SCN11A SCN9A SH3BP4 SLC12A6 SOD1 SPG11 ATL1 SPAST

More info about this panel

CMT2P Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the LRSAM1 gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Charcot-Marie-Tooth and Sensory Neuropathies Panel Panel

Germany.

By CeGaT GmbH Charcot-Marie-Tooth and Sensory Neuropathies Panel that also includes the following genes: SBF1 SCN10A SCN11A SCN9A DST SLC12A6 SOX10 ATL1 SPTLC1 SPTLC2

More info about this panel

LRSAM1 - Exon 25 sequencing Panel

Netherlands.

By Clinical Genetics Academic Medical Center

This panel specifically test the LRSAM1 gene.

More info about this panel

Charcot-Marie-Tooth Disease Panel

Estonia.

By Asper Biogene Asper Biogene LLC Charcot-Marie-Tooth Disease that also includes the following genes: SBF1 SCN9A SPTLC1 SPTLC2 SURF1 TFG VCP YARS PRX SLC5A7

More info about this panel

Invitae Comprehensive Neuropathies Panel Panel

United States.

By Invitae Invitae Comprehensive Neuropathies Panel that also includes the following genes: SCN11A SCN9A DST SPG11 ATL1 SPTLC1 SPTLC2 TFG TTR UBA1

More info about this panel

Invitae Charcot-Marie-Tooth Disease Comprehensive Panel Panel

United States.

By Invitae Invitae Charcot-Marie-Tooth Disease Comprehensive Panel that also includes the following genes: SPG11 TFG YARS PRX BSCL2 GDAP1 TRIM2 LITAF FIG4 MFN2

More info about this panel

Invitae Charcot-Marie-Tooth Disease Autosomal Recessive Panel Panel

United States.

By Invitae Invitae Charcot-Marie-Tooth Disease Autosomal Recessive Panel that also includes the following genes: SPG11 PRX GDAP1 TRIM2 FIG4 MFN2 FGD4 SBF2 LRSAM1 MED25

More info about this panel

Invitae Charcot-Marie-Tooth Disease Autosomal Dominant Panel Panel

United States.

By Invitae Invitae Charcot-Marie-Tooth Disease Autosomal Dominant Panel that also includes the following genes: TFG YARS BSCL2 GDAP1 LITAF MFN2 TRPV4 AARS GNB4 MORC2

More info about this panel

CHARCOT- MARIE TOOTH Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases CHARCOT- MARIE TOOTH that also includes the following genes: YARS PRX BSCL2 GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4

More info about this panel

Hereditary Neuropathies: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Sequencing Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1

More info about this panel

Hereditary Neuropathies: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Deletion/Duplication Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1

More info about this panel

Hereditary Neuropathies NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Hereditary Neuropathies NGS Panel that also includes the following genes: SCN9A ATL1 SPTLC2 TTR YARS PRX GDAP1 KIF1B LITAF MFN2

More info about this panel

Charcot Marie Tooth Disease Extended NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Charcot Marie Tooth Disease Extended NGS Panel that also includes the following genes: SCN9A SLC12A6 ATL1 SPTLC1 SPTLC2 TTR PRX WNK1 BSCL2 GDAP1

More info about this panel

LRSAM1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the LRSAM1 gene.

More info about this panel

Charcot-Marie-Tooth Neuropathy Panel Panel

Finland.

By Blueprint Genetics Charcot-Marie-Tooth Neuropathy Panel that also includes the following genes: SACS SBF1 SCN11A SCN9A DST SLC12A6 SPG11 ATL1 SPTLC1 SPTLC2

More info about this panel

Charcot-Marie-Tooth neuropathy type 2P Panel

Spain.

By Bioarray

This panel specifically test the LRSAM1 gene.

More info about this panel

CHARCOT-MARIE-TOOTH : NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CHARCOT-MARIE-TOOTH : NGS PANEL that also includes the following genes: YARS PRX BSCL2 GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4

More info about this panel

Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes Panel

Spain.

By Reference Laboratory Genetics Charcot-Marie-Tooth Disease, Panel Massive Sequencing (NGS) 32 Genes that also includes the following genes: YARS PRX BSCL2 GDAP1 KIF1B LITAF FIG4 MFN2 TRPV4 FGD4

More info about this panel

Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes Panel

Spain.

By Reference Laboratory Genetics Motor Neuron Disorder and Related Diseases , Panel Massive Sequencing (NGS) 49 Genes that also includes the following genes: SMN1 SMN2 UBA1 VCP YARS PRX BSCL2 GDAP1 SLC52A3 KIF1B

More info about this panel

Charcot-Marie-Tooth Disease Type 2 , Panel Massive Sequencing (NGS) 20 Genes Panel

Spain.

By Reference Laboratory Genetics Charcot-Marie-Tooth Disease Type 2 , Panel Massive Sequencing (NGS) 20 Genes that also includes the following genes: GDAP1 KIF1B MFN2 TRPV4 AARS LRSAM1 MED25 DYNC1H1 DNM2 HSPB8

More info about this panel


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