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.
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
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
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
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
Search interest in ALS2
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Portugal.
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 Portugal.
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 Portugal.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
ALS2 Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the ALS2 gene.
More info about this panel Netherlands.
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 Netherlands.
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 Germany.
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 Germany.
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 Germany.
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 United States.
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 United States.
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 Germany.
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 Germany.
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 Germany.
Single gene testing ALS2 Panel
Germany.
By CeGaT GmbH
This panel specifically test the ALS2 gene.
More info about this panel Germany.
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 Germany.
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 Poland.
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 Estonia.
Amyotrophic lateral sclerosis 02 Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the ALS2 gene.
More info about this panel Austria.
Primary lateral sclerosis, juvenile Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the ALS2 gene.
More info about this panel Austria.
Spastic paralysis, infantile onset ascending Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the ALS2 gene.
More info about this panel Austria.
Amyotrophic lateral sclerosis 02 Panel
Slovakia.
By MedGene
This panel specifically test the ALS2 gene.
More info about this panel Slovakia.
Primary lateral sclerosis, juvenile Panel
Slovakia.
By MedGene
This panel specifically test the ALS2 gene.
More info about this panel Slovakia.
Spastic paralysis, infantile onset ascending Panel
Slovakia.
By MedGene
This panel specifically test the ALS2 gene.
More info about this panel Slovakia.
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 United States.
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 United States.
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 United States.
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 United States.
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 Spain.
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 Netherlands.
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 United States.
ALS2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ALS2 gene.
More info about this panel United States.
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 Finland.
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 Finland.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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 Spain.
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