ALS2 gene related symptoms and diseases

All the information presented here about the ALS2 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 ALS2 gene

Symptoms // Phenotype % Cases
Pseudobulbar behavioral symptoms Very Common - Between 80% and 100% cases
Babinski sign Very Common - Between 80% and 100% cases
Spasticity Very Common - Between 80% and 100% cases
Hyperreflexia Very Common - Between 80% and 100% cases
Amyotrophic lateral sclerosis Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with ALS2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Abnormal upper motor neuron morphology
  • Drooling
  • Spastic gait
  • Paralysis
  • Abnormal lower motor neuron morphology
  • Abnormal pyramidal sign
  • Dysphagia
  • Skeletal muscle atrophy

And 69 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ALS2 gene

Here you will find a list of rare diseases related to the ALS2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2


Alternate names

AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2 Is also known as alsj, als, juvenile

Most common symptoms of AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2

  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Nystagmus
  • Muscle weakness


More info about AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2

SOURCES: OMIM MESH

JUVENILE PRIMARY LATERAL SCLEROSIS


Alternate names

JUVENILE PRIMARY LATERAL SCLEROSIS Is also known as juvenile pls, pls, juvenile, jpls

Description

Juvenile primary lateral sclerosis (JPLS) is a very rare motor neuron disease characterized by progressive upper motor neuron dysfunction leading to loss of the ability to walk with wheelchair dependence, and subsequently, loss of motor speech production.

Most common symptoms of JUVENILE PRIMARY LATERAL SCLEROSIS

  • Muscle weakness
  • Spasticity
  • Hyperreflexia
  • Skeletal muscle atrophy
  • Dysphagia


More info about JUVENILE PRIMARY LATERAL SCLEROSIS

SOURCES: MESH ORPHANET OMIM

INFANTILE-ONSET ASCENDING HEREDITARY SPASTIC PARALYSIS


Alternate names

INFANTILE-ONSET ASCENDING HEREDITARY SPASTIC PARALYSIS Is also known as iahsp

Description

Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a very rare motor neuron disease characterized by severe spasticity of the lower limbs in early life, progression of spasticity to the upper limbs in late childhood, and dysarthria.

Most common symptoms of INFANTILE-ONSET ASCENDING HEREDITARY SPASTIC PARALYSIS

  • Scoliosis
  • Muscle weakness
  • Spasticity
  • Motor delay
  • Hyperreflexia


More info about INFANTILE-ONSET ASCENDING HEREDITARY SPASTIC PARALYSIS

SOURCES: ORPHANET MESH OMIM

JUVENILE AMYOTROPHIC LATERAL SCLEROSIS


Alternate names

JUVENILE AMYOTROPHIC LATERAL SCLEROSIS Is also known as jals, juvenile lou gehrig disease, juvenile charcot disease

Description

Juvenile amyotrophic lateral sclerosis (JALS) is a very rare severe motor neuron disease characterized by progressive upper and lower motor neuron degeneration causing facial spasticity, dysarthria, and gait disorders with onset before 25 years of age.

Most common symptoms of JUVENILE AMYOTROPHIC LATERAL SCLEROSIS

  • Spasticity
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy
  • Gait disturbance


More info about JUVENILE AMYOTROPHIC LATERAL SCLEROSIS

SOURCES: ORPHANET


Potential gene panels for ALS2 gene

HSP, Comprehensive Evaluation Panel

United States.

By Athena Diagnostics Inc HSP, Comprehensive Evaluation that also includes the following genes: RTN2 SACS SPG11 ATL1 SPAST SPG7 BSCL2 PNPLA6 NIPA1 SPART

More info about this panel

HSP, Supplemental Sporadic Evaluation Panel

United States.

By Athena Diagnostics Inc HSP, Supplemental Sporadic Evaluation that also includes the following genes: RTN2 SACS SPG11 ATL1 BSCL2 PNPLA6 NIPA1 SPART SPG21 ZFYVE26

More info about this panel

Amyotrophic Lateral Sclerosis Advanced Evaluation Panel

United States.

By Athena Diagnostics Inc Amyotrophic Lateral Sclerosis Advanced Evaluation that also includes the following genes: SOD1 SQSTM1 TARDBP UBQLN2 VAPB VCP FIG4 OPTN CHMP2B DCTN1

More info about this panel

HSP, Supplemental Recessive Evaluation Panel

United States.

By Athena Diagnostics Inc HSP, Supplemental Recessive Evaluation that also includes the following genes: SACS PNPLA6 SPART SPG21 FA2H AP5Z1 CYP7B1 ALS2 KIF1A

More info about this panel

HSP, Complete Recessive Evaluation Panel

United States.

By Athena Diagnostics Inc HSP, Complete Recessive Evaluation that also includes the following genes: SACS SPG11 SPG7 PNPLA6 SPART SPG21 ZFYVE26 FA2H AP5Z1 CYP7B1

More info about this panel

Nonprevalent Amyotrophic Lateral Sclerosis Advanced Sequencing Evaluation Panel

United States.

By Athena Diagnostics Inc Nonprevalent Amyotrophic Lateral Sclerosis Advanced Sequencing Evaluation that also includes the following genes: SQSTM1 TARDBP UBQLN2 VAPB VCP FIG4 OPTN CHMP2B DCTN1 FUS

More info about this panel

Hereditary Spastic Paraplegia Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hereditary Spastic Paraplegia Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 TFG

More info about this panel

Amyotrophic Lateral Sclerosis Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Amyotrophic Lateral Sclerosis that also includes the following genes: ATXN2 SOD1 TARDBP UBQLN2 VAPB VCP VEGFA FIG4 OPTN SPART

More info about this panel

Dementia Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dementia that also includes the following genes: SORL1 TARDBP VCP FIG4 OPTN TREM2 CSF1R CHMP2B DCTN1 C9orf72

More info about this panel

Hereditary Spastic Paraplegia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Hereditary Spastic Paraplegia Exome Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 VAMP1

More info about this panel

Dystonia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8

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

Amyotrophic lateral sclerosis type 2, juvenile (sequence analysis of ALS2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ALS2 gene.

More info about this panel

Primary lateral sclerosis, juvenile (sequence analysis of ALS2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ALS2 gene.

More info about this panel

Spastic paralysis, infantile onset ascending (sequence analysis of ALS2 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the ALS2 gene.

More info about this panel

Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection that also includes the following genes: SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1 USP8

More info about this panel

Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1

More info about this panel

ALS2-Related Disorders via ALS2 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ALS2 gene.

More info about this panel

Amyotrophic lateral sclerosis and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Amyotrophic lateral sclerosis and related disorders Comprehensive panel that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP TBK1 TUBA4A UBQLN2 VAPB VCP CHCHD10

More info about this panel

Amyotrophic lateral sclerosis and related disorders Deletion/ Duplication panel Panel

United States.

By Connective Tissue Gene Tests Amyotrophic lateral sclerosis and related disorders Deletion/ Duplication panel that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP TBK1 TUBA4A UBQLN2 VAPB VCP CHCHD10

More info about this panel

Amyotrophic lateral sclerosis and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Amyotrophic lateral sclerosis and related disorders NGS panel that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP TBK1 TUBA4A UBQLN2 VAPB VCP CHCHD10

More info about this panel

Amyotrophic lateral sclerosis Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Amyotrophic lateral sclerosis that also includes the following genes: SOD1 TARDBP VAPB FUS ALS2

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

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Amyotrophic Lateral Sclerosis (ALS) and Phenocopies Panel

Germany.

By MGZ Medical Genetics Center Amyotrophic Lateral Sclerosis (ALS) and Phenocopies that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP UBQLN2 VAPB VCP CHCHD10 BSCL2 SLC52A3

More info about this panel

ALS2 Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the ALS2 gene.

More info about this panel

FTD - ALS panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht FTD - ALS panel that also includes the following genes: SMPD1 SOD1 TARDBP VAPB VCP NPC2 FIG4 CHMP2B FUS ALS2

More info about this panel

Amyotrophic lateral sclerosis type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ALS2 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

ALS panel Panel

Germany.

By Centogene AG - the Rare Disease Company ALS panel that also includes the following genes: ATXN2 SOD1 TARDBP UBQLN2 VAPB VCP VEGFA FIG4 OPTN SPART

More info about this panel

Amyotrophic Lateral Sclerosis NGS Panel + C9orf72 Repeat Expansion Panel

United States.

By MNG Laboratories (Medical Neurogenetics, LLC.) Amyotrophic Lateral Sclerosis NGS Panel + C9orf72 Repeat Expansion that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP UBQLN2 VAPB VCP PARK7 FIG4 OPTN

More info about this panel

Amyotrophic Lateral Sclerosis NGS Panel Panel

United States.

By MNG Laboratories (Medical Neurogenetics, LLC.) Amyotrophic Lateral Sclerosis NGS Panel that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP UBQLN2 VAPB VCP PARK7 FIG4 OPTN

More info about this panel

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1

More info about this panel

Amyotrophic Lateral Sclerosis (ALS) Panel Panel

Germany.

By CeGaT GmbH Amyotrophic Lateral Sclerosis (ALS) Panel that also includes the following genes: ATXN1 ATXN2 SOD1 SPG11 SQSTM1 TAF15 TARDBP TBK1 TUBA4A UBQLN2

More info about this panel

Dystonia All Panel Panel

Germany.

By CeGaT GmbH Dystonia All Panel that also includes the following genes: SGCE SLC25A15 SLC2A1 SPR TAF1 TH TIMM8A CACNA1B ANO3 NPC2

More info about this panel

Single gene testing ALS2 Panel

Germany.

By CeGaT GmbH

This panel specifically test the ALS2 gene.

More info about this panel

Hereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel Panel

Germany.

By CeGaT GmbH Hereditary spastic paraplegia (HSP), autosomal recessive and X-linked Panel that also includes the following genes: SLC1A4 SPG11 SPG7 TFG ERLIN2 ABHD12 CCT5 PNPLA6 GJC2 REEP2

More info about this panel

Amyotrophic lateral sclerosis Panel

Poland.

By Laboratory of Human Genetics GENOMED Health Care Center Amyotrophic lateral sclerosis that also includes the following genes: SOD1 SQSTM1 TARDBP TBK1 UBQLN4 TUBA4A VAPB CHCHD10 FIG4 OPTN

More info about this panel

Amyotrophic Lateral Sclerosis Panel

Estonia.

By Asper Biogene Asper Biogene LLC Amyotrophic Lateral Sclerosis that also includes the following genes: SOD1 SPG11 SQSTM1 TARDBP TBK1 TUBA4A UBQLN2 VAPB VCP CHCHD10

More info about this panel

Amyotrophic lateral sclerosis 02 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the ALS2 gene.

More info about this panel

Primary lateral sclerosis, juvenile Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the ALS2 gene.

More info about this panel

Spastic paralysis, infantile onset ascending Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the ALS2 gene.

More info about this panel

Amyotrophic lateral sclerosis 02 Panel

Slovakia.

By MedGene

This panel specifically test the ALS2 gene.

More info about this panel

Primary lateral sclerosis, juvenile Panel

Slovakia.

By MedGene

This panel specifically test the ALS2 gene.

More info about this panel

Spastic paralysis, infantile onset ascending Panel

Slovakia.

By MedGene

This panel specifically test the ALS2 gene.

More info about this panel

Invitae Hereditary Spastic Paraplegia Autosomal Recessive Panel Panel

United States.

By Invitae Invitae Hereditary Spastic Paraplegia Autosomal Recessive Panel that also includes the following genes: SACS SPG11 SPG7 ERLIN2 PNPLA6 GJC2 SPART GBA2 DDHD1 TECPR2

More info about this panel

Invitae Hereditary Spastic Paraplegia Comprehensive Panel Panel

United States.

By Invitae Invitae Hereditary Spastic Paraplegia Comprehensive Panel that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 VAMP1 ERLIN2

More info about this panel

Invitae Amyotrophic Lateral Sclerosis Panel Panel

United States.

By Invitae Invitae Amyotrophic Lateral Sclerosis Panel that also includes the following genes: SOD1 SPG11 TARDBP TBK1 TFG UBQLN2 VAPB CHCHD10 OPTN DCTN1

More info about this panel

Invitae Combined Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel Panel

United States.

By Invitae Invitae Combined Hereditary Dementia and Amyotrophic Lateral Sclerosis Panel that also includes the following genes: SNCA SOD1 SPG11 TARDBP TBK1 TFG UBQLN2 VAPB VCP CHCHD10

More info about this panel

AMYOTROPHIC LATERAL SCLEROSIS A.D. & A.R. Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases AMYOTROPHIC LATERAL SCLEROSIS A.D. & A.R. that also includes the following genes: SOD1 TARDBP VAPB VCP FIG4 OPTN SPART FUS ALS2 SETX

More info about this panel

NGS panel - dementia Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - dementia that also includes the following genes: SNCA SNCB SOD1 SORL1 SQSTM1 TARDBP TYROBP UBAP1 UBQLN2 VAPB

More info about this panel

Amyotrophic Lateral Sclerosis NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Amyotrophic Lateral Sclerosis NGS Panel that also includes the following genes: ATXN2 SOD1 TARDBP UBQLN2 VAPB VCP ABCG5 ABHD12 FIG4 OPTN

More info about this panel

ALS2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ALS2 gene.

More info about this panel

Spastic Paraplegia Panel Panel

Finland.

By Blueprint Genetics Spastic Paraplegia Panel that also includes the following genes: SACS SLC16A2 SLC25A15 KDM5C BTD SPG11 ATL1 SPAST SPG7 SPR

More info about this panel

Amyotrophic Lateral Sclerosis Panel Panel

Finland.

By Blueprint Genetics Amyotrophic Lateral Sclerosis Panel that also includes the following genes: SOD1 SPG11 ATL1 SPAST SQSTM1 TARDBP TUBA4A UBQLN2 VAPB VCP

More info about this panel

AMYOTROPHIC LATERAL SCLEROSIS (ALS) (AUTOSOMAL RECESSIVE) Panel

Spain.

By Laboratorio de Genetica Clinica SL AMYOTROPHIC LATERAL SCLEROSIS (ALS) (AUTOSOMAL RECESSIVE) that also includes the following genes: SPG11 OPTN SPART ALS2 SIGMAR1

More info about this panel

INFANTILE-ONSET ASCENDING HEREDITARY SPASTIC PARALYSIS Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the ALS2 gene.

More info about this panel

AMYOTROPHIC LATERAL SCLEROSIS: ALS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL AMYOTROPHIC LATERAL SCLEROSIS: ALS NGS PANEL that also includes the following genes: ATXN2 SOD1 SPG11 SQSTM1 TARDBP TBK1 UBQLN2 VAPB VCP CHCHD10

More info about this panel

SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL that also includes the following genes: RTN2 SACS SLC16A2 SPG11 ATL1 SPAST SPG7 TFG TTR VCP

More info about this panel

Juvenile Amyotrophic Lateral Sclerosis Type 2 , Sequencing ALS2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ALS2 gene.

More info about this panel

Infantile Onset Ascending Hereditary Spastic Paralysis , Sequencing ALS2 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the ALS2 gene.

More info about this panel

Amyotrophic Lateral Sclerosis , Panel Massive Sequencing (NGS) 12 Genes Panel

Spain.

By Reference Laboratory Genetics Amyotrophic Lateral Sclerosis , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: SOD1 SPG11 TARDBP VAPB VCP FIG4 OPTN SPART FUS ALS2

More info about this panel

Autosomal Recessive Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 10 Genes Panel

Spain.

By Reference Laboratory Genetics Autosomal Recessive Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: SPG11 SPG7 PNPLA6 GJC2 SPART FA2H AP5Z1 CYP7B1 ALS2 KIF1A

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

Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 22 Genes Panel

Spain.

By Reference Laboratory Genetics Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 22 Genes that also includes the following genes: SPG11 ATL1 SPAST SPG7 BSCL2 PNPLA6 NIPA1 GJC2 SPART ZFYVE26

More info about this panel


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