HNRNPA2B1 gene related symptoms and diseases

All the information presented here about the HNRNPA2B1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to HNRNPA2B1 gene

Symptoms // Phenotype % Cases
Elevated serum creatine phosphokinase Very Common - Between 80% and 100% cases
Skeletal muscle atrophy Very Common - Between 80% and 100% cases
Muscular dystrophy Very Common - Between 80% and 100% cases
Rimmed vacuoles Very Common - Between 80% and 100% cases
Myopathy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with HNRNPA2B1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Frontotemporal dementia
  • Dementia
  • Not very common - Between 30% and 50% cases

  • Shoulder girdle muscle weakness
  • Abnormality of calvarial morphology
  • EMG: chronic denervation signs
  • Shoulder girdle muscle atrophy
  • Hip pain
  • Pelvic girdle muscle weakness

And 74 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to HNRNPA2B1 gene

Here you will find a list of rare diseases related to the HNRNPA2B1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


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 2; IBMPFD2


Alternate names

INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2; IBMPFD2 Is also known as multisystem proteinopathy 2, msp2

Most common symptoms of INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2; IBMPFD2

  • Cognitive impairment
  • Skeletal muscle atrophy
  • Abnormality of the skeletal system
  • Myopathy
  • Behavioral abnormality


More info about INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2; IBMPFD2

SOURCES: OMIM


Potential gene panels for HNRNPA2B1 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

Frontotemporal dementia (sequence analysis of HNRNPA2B1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the HNRNPA2B1 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

HNRNPA2B1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HNRNPA2B1 gene.

More info about this panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like STAT3 TRHR COQ2 UVSSA RECQL4 TCF15

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more