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.
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
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
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
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
Search interest in CHMP2B
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 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.
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 United States.
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 United States.
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 United States.
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 Portugal.
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.
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 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 United States.
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 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.
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 Germany.
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 Netherlands.
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 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.
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.
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.
Single gene testing CHMP2B Panel
Germany.
By CeGaT GmbH
This panel specifically test the CHMP2B 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.
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 Estonia.
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.
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 Spain.
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 Spain.
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.
CHMP2B - Gene sequencing Panel
Netherlands.
By Genome Diagnostics VU University Medical Center
This panel specifically test the CHMP2B gene.
More info about this panel Netherlands.
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 United States.
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.
CHMP2B Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CHMP2B gene.
More info about this panel United States.
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 Finland.
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) (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.
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 Spain.
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 Spain.
Frontotemporal Dementia , Sequencing CHMP2B Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the CHMP2B gene.
More info about this panel Spain.
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 Spain.
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 Canada.
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