PFN1 gene related symptoms and diseases
All the information presented here about the PFN1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PFN1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Muscle weakness | Very Common - Between 80% and 100% cases |
| Spasticity | Very Common - Between 80% and 100% cases |
| Skeletal muscle atrophy | Very Common - Between 80% and 100% cases |
| Amyotrophic lateral sclerosis | Very Common - Between 80% and 100% cases |
| Dysphagia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PFN1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Fasciculations
Not very common - Between 30% and 50% cases
- Frontotemporal dementia
- Sleep apnea
- Slurred speech
- Emotional lability
- Agitation
- Bulbar palsy
- Muscle fibrillation
And 35 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PFN1 gene
Here you will find a list of rare diseases related to the PFN1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AMYOTROPHIC LATERAL SCLEROSIS
Alternate names
AMYOTROPHIC LATERAL SCLEROSIS Is also known as als, amyotrophic lateral sclerosis 1, autosomal dominant, fals, lou gehrig disease, charcot disease, amyotrophic lateral sclerosis 1, familial
Description
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.
Most common symptoms of AMYOTROPHIC LATERAL SCLEROSIS
- Microcephaly
- Muscle weakness
- Pain
- Cataract
- Spasticity
More info about AMYOTROPHIC LATERAL SCLEROSIS
AMYOTROPHIC LATERAL SCLEROSIS 18; ALS18
Most common symptoms of AMYOTROPHIC LATERAL SCLEROSIS 18; ALS18
- Muscle weakness
- Spasticity
- Dysarthria
- Skeletal muscle atrophy
- Dysphagia
More info about AMYOTROPHIC LATERAL SCLEROSIS 18; ALS18
SOURCES: OMIM
Search interest in PFN1
Potential gene panels for PFN1 gene
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.
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.
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.
Amyotrophic lateral sclerosis 18 (sequence analysis of PFN1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PFN1 gene.
More info about this panel Portugal.
Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel with CNV Detection that also includes the following genes: SOD1 SQSTM1 TARDBP TBK1 UBQLN2 VAPB VCP OPTN CDH13 TREM2
More info about this panel United States.
Amyotrophic Lateral Sclerosis/Motor Neuron Disease via PFN1 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the PFN1 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 type 18 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PFN1 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.
Single gene testing PFN1 Panel
Germany.
By CeGaT GmbH
This panel specifically test the PFN1 gene.
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.
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.
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.
PFN1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PFN1 gene.
More info about this panel United States.
AMYOTROPHIC LATERAL SCLEROSIS (ALS) (AUTOSOMAL DOMINANT) Panel
Spain.
By Laboratorio de Genetica Clinica SL AMYOTROPHIC LATERAL SCLEROSIS (ALS) (AUTOSOMAL DOMINANT) that also includes the following genes: SOD1 SQSTM1 TARDBP VAPB VCP CHCHD10 FIG4 CHMP2B DCTN1 C9orf72
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.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PRKG2 ROBO1 MYH9