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

SOURCES: OMIM MESH ORPHANET

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

SOURCES: MESH ORPHANET OMIM

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


Potential gene panels for HNRNPA1 gene

Frontotemporal dementia (NGS panel for 13 genes) Panel

Portugal.

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 panel
Portugal.

Hereditary dementias (NGS panel for 28 genes) Panel

Portugal.

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 panel
Portugal.

Frontotemporal dementia (sequence analysis of HNRNPA1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the HNRNPA1 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 (ALS) via hnRNPA1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the HNRNPA1 gene.

More info about this panel
United States.

Comprehensive Neuromuscular Sequencing Panel Panel

United States.

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 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.

Paget disease of bone and related disorders Comprehensive panel Panel

United States.

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 panel
United States.

Paget disease of bone and related disorders NGS panel Panel

United States.

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 panel
United States.

Paget disease of bone and related disorders Deletion / Duplication panel Panel

United States.

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 panel
United States.

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.

Congenital and Distal Myopathies Panel Panel

Germany.

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 panel
Germany.

Frontotemporal Dementia (FTD) Panel Panel

Germany.

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 panel
Germany.

Dementia all Panel Panel

Germany.

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 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.

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.

HNRNPA1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HNRNPA1 gene.

More info about this panel
United States.

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 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.

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