HNRNPA1 gene related symptoms and diseases
All the information presented here about the HNRNPA1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to HNRNPA1 gene
Symptoms // Phenotype | % Cases |
---|---|
Rimmed vacuoles | Common - Between 50% and 80% cases |
Elevated alkaline phosphatase | Common - Between 50% and 80% cases |
Muscular dystrophy | Common - Between 50% and 80% cases |
Amyotrophic lateral sclerosis | Common - Between 50% and 80% cases |
Muscle weakness | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with HNRNPA1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Muscle fiber inclusion bodies
- Neuronal loss in central nervous system
- Fasciculations
- Limb-girdle muscular dystrophy
- Myopathy
- Respiratory failure
- Elevated serum creatine phosphokinase
- Dementia
And 110 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to HNRNPA1 gene
Here you will find a list of rare diseases related to the HNRNPA1. 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 20; ALS20
Most common symptoms of AMYOTROPHIC LATERAL SCLEROSIS 20; ALS20
- Muscular dystrophy
- Elevated alkaline phosphatase
- Amyotrophic lateral sclerosis
- Rimmed vacuoles
- Muscle fiber inclusion bodies
More info about AMYOTROPHIC LATERAL SCLEROSIS 20; ALS20
SOURCES: OMIM
INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA
Alternate names
INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA Is also known as pagetoid neuroskeletal syndrome, msp1, pagetoid amyotrophic lateral sclerosis, multisystem proteinopathy 1, muscular dystrophy, limb-girdle, with paget disease of bone, limb-girdle muscular dystrophy with paget disease of bone, ibmpfd, lower motor neuron degener
Description
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.
Most common symptoms of INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA
- Intellectual disability
- Short stature
- Muscle weakness
- Cataract
- Skeletal muscle atrophy
More info about INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3; IBMPFD3
Alternate names
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3; IBMPFD3 Is also known as multisystem proteinopathy 3, msp3
Most common symptoms of INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3; IBMPFD3
- Muscle weakness
- Cognitive impairment
- Myopathy
- Elevated serum creatine phosphokinase
- Proximal muscle weakness
More info about INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 3; IBMPFD3
SOURCES: OMIM
Search interest in HNRNPA1
Potential gene panels for HNRNPA1 gene
Frontotemporal dementia (NGS panel for 13 genes) Panel
By CGC Genetics Frontotemporal dementia (NGS panel for 13 genes) that also includes the following genes: TARDBP TUBA4A UBQLN2 VCP CHCHD10 CSF1R CHMP2B FUS GRN HNRNPA1
More info about this panelHereditary dementias (NGS panel for 28 genes) Panel
By CGC Genetics Hereditary dementias (NGS panel for 28 genes) that also includes the following genes: SNCA SNCB SORL1 TARDBP TIMM8A TUBA4A TYROBP UBQLN2 VCP CHCHD10
More info about this panelFrontotemporal dementia (sequence analysis of HNRNPA1 gene) Panel
By CGC Genetics
This panel specifically test the HNRNPA1 gene.
More info about this panelAmyotrophic Lateral Sclerosis and Frontotemporal Dementia Sequencing Panel with CNV Detection Panel
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 panelAmyotrophic Lateral Sclerosis (ALS) via hnRNPA1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the HNRNPA1 gene.
More info about this panelComprehensive Neuromuscular Sequencing Panel Panel
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 panelAmyotrophic lateral sclerosis and related disorders Comprehensive panel Panel
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 panelAmyotrophic lateral sclerosis and related disorders Deletion/ Duplication panel Panel
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 panelAmyotrophic lateral sclerosis and related disorders NGS panel Panel
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 panelPaget disease of bone and related disorders Comprehensive panel Panel
By Connective Tissue Gene Tests Paget disease of bone and related disorders Comprehensive panel that also includes the following genes: SQSTM1 TNFRSF11A TNFRSF11B VCP ZNF687 HNRNPA1 HNRNPA2B1
More info about this panelPaget disease of bone and related disorders NGS panel Panel
By Connective Tissue Gene Tests Paget disease of bone and related disorders NGS panel that also includes the following genes: SQSTM1 TNFRSF11A TNFRSF11B VCP ZNF687 HNRNPA1 HNRNPA2B1
More info about this panelPaget disease of bone and related disorders Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Paget disease of bone and related disorders Deletion / Duplication panel that also includes the following genes: SQSTM1 TNFRSF11A TNFRSF11B VCP ZNF687 HNRNPA1 HNRNPA2B1
More info about this panelAmyotrophic Lateral Sclerosis NGS Panel + C9orf72 Repeat Expansion Panel
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 panelAmyotrophic Lateral Sclerosis NGS Panel Panel
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 panelHereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel
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 panelAmyotrophic Lateral Sclerosis (ALS) Panel Panel
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 panelCongenital and Distal Myopathies Panel Panel
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 panelFrontotemporal Dementia (FTD) Panel Panel
By CeGaT GmbH Frontotemporal Dementia (FTD) Panel that also includes the following genes: ATXN2 SQSTM1 TARDBP TBK1 TUBA4A UBQLN2 VCP CHCHD10 OPTN TREM2
More info about this panelDementia all Panel Panel
By CeGaT GmbH Dementia all Panel that also includes the following genes: ATXN2 SQSTM1 TARDBP TBK1 TBP TUBA4A UBQLN2 VCP VPS35 MARK4
More info about this panelAmyotrophic lateral sclerosis Panel
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 panelNGS panel - dementia Panel
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 panelHNRNPA1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HNRNPA1 gene.
More info about this panelAmyotrophic Lateral Sclerosis Panel Panel
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 panelAMYOTROPHIC LATERAL SCLEROSIS: ALS NGS PANEL Panel
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
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