CHMP2B gene related symptoms and diseases

All the information presented here about the CHMP2B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CHMP2B gene

Symptoms // Phenotype % Cases
Frontotemporal dementia Very Common - Between 80% and 100% cases
Dementia Common - Between 50% and 80% cases
Dysgraphia Common - Between 50% and 80% cases
Restlessness Uncommon - Between 30% and 50% cases
Mutism Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with CHMP2B gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Abnormal lower motor neuron morphology
  • Fasciculations
  • Perseveration
  • Astrocytosis
  • Personality changes
  • Mental deterioration
  • Hyperreflexia
  • Memory impairment

And 110 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CHMP2B gene

Here you will find a list of rare diseases related to the CHMP2B. 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 17; ALS17


Alternate names

AMYOTROPHIC LATERAL SCLEROSIS 17; ALS17 Is also known as amyotrophic lateral sclerosis, chmp2b-related

Description

ALS17 is an adult-onset progressive neurodegenerative disorder with predominantly lower motor neuron involvement, manifest as muscle weakness and wasting of the upper and lower limbs, bulbar signs, and respiratory insufficiency (summary by Cox et al., 2010).

Most common symptoms of AMYOTROPHIC LATERAL SCLEROSIS 17; ALS17

  • Muscle weakness
  • Dysarthria
  • Skeletal muscle atrophy
  • Dysphagia
  • Respiratory insufficiency


More info about AMYOTROPHIC LATERAL SCLEROSIS 17; ALS17

SOURCES: MESH OMIM

SEMANTIC DEMENTIA


Alternate names

SEMANTIC DEMENTIA Is also known as semantic primary progressive aphasia, semantic variant ppa

Description

Semantic dementia (SD) is a form of frontotemporal dementia (FTD; see this term), characterized by the progressive, amodal and profound loss of semantic knowledge (combination of visual associative agnosia, anomia, surface dyslexia or dysgraphia and disrupted comprehension of word meaning) and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes.

Most common symptoms of SEMANTIC DEMENTIA

  • Dementia
  • Neurological speech impairment
  • Brain atrophy
  • Aphasia
  • Dyslexia


More info about SEMANTIC DEMENTIA

SOURCES: ORPHANET

PROGRESSIVE NON-FLUENT APHASIA


Alternate names

PROGRESSIVE NON-FLUENT APHASIA Is also known as agramatic variant of primary progressive aphasia, agramatic variant of ppa, non-fluent variant ppa

Description

Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved.

Most common symptoms of PROGRESSIVE NON-FLUENT APHASIA

  • Behavioral abnormality
  • Depressivity
  • Anxiety
  • Mental deterioration
  • Stroke


More info about PROGRESSIVE NON-FLUENT APHASIA

SOURCES: ORPHANET

FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3


Alternate names

FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3 Is also known as dem, dementia, familial nonspecific, dmt1

Description

A substantial minority of degenerative dementias, perhaps 10%, lack the distinctive pathologic features that allow subclassification as Alzheimer disease (see {104300}) or other forms of dementia. In perhaps half of these cases of nonspecific dementia, there is a positive family history of dementia, with an apparent autosomal dominant mode of inheritance.See also frontotemporal lobe dementia (FLDEM ), which maps to chromosome 17 and is caused by mutation in the microtubule-associated protein tau gene (MAPT ).

Most common symptoms of FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3

  • Hyperreflexia
  • Gait disturbance
  • Dystonia
  • Cerebral atrophy
  • Babinski sign


More info about FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3

SOURCES: OMIM MESH

BEHAVIORAL VARIANT OF FRONTOTEMPORAL DEMENTIA


Alternate names

BEHAVIORAL VARIANT OF FRONTOTEMPORAL DEMENTIA Is also known as bv-ftd

Description

Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia (FTD; see this term), characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy.

Most common symptoms of BEHAVIORAL VARIANT OF FRONTOTEMPORAL DEMENTIA

  • Hyperreflexia
  • Gait disturbance
  • Behavioral abnormality
  • Aggressive behavior
  • Mental deterioration


More info about BEHAVIORAL VARIANT OF FRONTOTEMPORAL DEMENTIA

SOURCES: ORPHANET


Potential gene panels for CHMP2B 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

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

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

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

Dystonia Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Dystonia that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH

More info about this panel

Movement Disorders Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Movement Disorders Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SNCA SPR SQSTM1 SUCLA2 SUOX

More info about this panel

Amyotrophic lateral sclerosis 17 (sequence analysis of CHMP2B gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CHMP2B gene.

More info about this panel

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

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

Amyotrophic Lateral Sclerosis and Frontotemporal Dementia via CHMP2B Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CHMP2B gene.

More info about this panel

Dementia Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Dementia Sequencing Panel with CNV Detection that also includes the following genes: SQSTM1 TARDBP TYROBP UBQLN2 TREM2 CHMP2B C9orf72 FUS GRN APP

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

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

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

Amyotrophic lateral sclerosis type 17 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CHMP2B gene.

More info about this panel

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

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

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

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

Single gene testing CHMP2B Panel

Germany.

By CeGaT GmbH

This panel specifically test the CHMP2B gene.

More info about this panel

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

Frontotemporal Dementia Panel

Estonia.

By Asper Biogene Asper Biogene LLC Frontotemporal Dementia that also includes the following genes: TARDBP CHMP2B GRN MAPT

More info about this panel

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

Frontotemporal dementia: CHMP2B gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the CHMP2B gene.

More info about this panel

Frontotemporal dementia Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Frontotemporal dementia that also includes the following genes: TARDBP UBQLN2 VCP CHMP2B FUS GRN MAPT SIGMAR1

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

CHMP2B - Gene sequencing Panel

Netherlands.

By Genome Diagnostics VU University Medical Center

This panel specifically test the CHMP2B gene.

More info about this panel

Dystonia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Dystonia: Sequencing Panel that also includes the following genes: SCP2 SGCE SLC20A2 SLC2A1 SLC6A3 SPR SUCLA2 SUOX TAF1 TH

More info about this panel

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

CHMP2B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CHMP2B gene.

More info about this panel

Dementia Panel Panel

Finland.

By Blueprint Genetics Dementia Panel that also includes the following genes: SNCA SORL1 TARDBP TUBA4A UBE3A UBQLN2 VCP TREM2 RNF216 CSF1R

More info about this panel

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

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

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

DEMENTIA & ALZHEIMER: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL DEMENTIA & ALZHEIMER: NGS PANEL that also includes the following genes: SORL1 TARDBP VCP TREM2 CSF1R CHMP2B FUS GRN APOE ITM2B

More info about this panel

FRONTOTEMPORAL DEMENTIA Panel

Spain.

By Laboratorio de Genetica Clinica SL FRONTOTEMPORAL DEMENTIA that also includes the following genes: TARDBP CHMP2B C9orf72 GRN MAPT PSEN1

More info about this panel

Frontotemporal Dementia , Sequencing CHMP2B Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CHMP2B gene.

More info about this panel

Frontotemporal Dementia , Panel Massive Sequencing (NGS) 8 Genes Panel

Spain.

By Reference Laboratory Genetics Frontotemporal Dementia , Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: TARDBP UBQLN2 VCP CHMP2B FUS GRN MAPT SIGMAR1

More info about this panel

Frontotemporal Dementia, Chromosome 3-Linked: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the CHMP2B gene.

More info about this panel


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