C9orf72 gene related symptoms and diseases
All the information presented here about the C9orf72 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to C9orf72 gene
Symptoms // Phenotype | % Cases |
---|---|
Parkinsonism | Common - Between 50% and 80% cases |
Memory impairment | Common - Between 50% and 80% cases |
Frontotemporal dementia | Common - Between 50% and 80% cases |
Depressivity | Common - Between 50% and 80% cases |
Perseveration | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with C9orf72 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Dementia
- Behavioral abnormality
- Abnormality of extrapyramidal motor function
- Anxiety
- Psychosis
- Myoclonus
- Mutism
- Dysgraphia
And 122 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to C9orf72 gene
Here you will find a list of rare diseases related to the C9orf72. 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
FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE
Alternate names
FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE Is also known as frontotemporal dementia and/or amyotrophic lateral sclerosis, frontotemporal dementia with amyotrophic lateral sclerosis, ftd-mnd, ftdmnd, ftd-als, amyotrophic lateral sclerosis and/or frontotemporal dementia, alsftd, frontotemporal dementia and/or motor neuron
Description
Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis; see this term). The disease is progressive, with death occurring 2-5 years after onset.
Most common symptoms of FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE
- Ataxia
- Muscle weakness
- Ptosis
- Cognitive impairment
- Dysarthria
More info about FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE
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
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
HUNTINGTON DISEASE-LIKE SYNDROME DUE TO C9ORF72 EXPANSIONS
Alternate names
HUNTINGTON DISEASE-LIKE SYNDROME DUE TO C9ORF72 EXPANSIONS Is also known as c9orf72-related huntington disease phenocopy, c9orf72-related huntington disease-like syndrome, huntington disease phenocopy due to c9orf72 expansions
Description
Huntington disease-like syndrome due to C9ORF72 expansions is a rare, genetic neurodegenerative disease characterized by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioral problems.
Most common symptoms of HUNTINGTON DISEASE-LIKE SYNDROME DUE TO C9ORF72 EXPANSIONS
- Ataxia
- Cognitive impairment
- Tremor
- Dystonia
- Depressivity
More info about HUNTINGTON DISEASE-LIKE SYNDROME DUE TO C9ORF72 EXPANSIONS
SOURCES: ORPHANET
Search interest in C9orf72
Potential gene panels for C9orf72 gene
C9ORF72 (FTD) DNA Test Panel
By Athena Diagnostics Inc
This panel specifically test the C9orf72 gene.
More info about this panelFrontotemporal Dementia (FTD) Evaluation Panel
By Athena Diagnostics Inc Frontotemporal Dementia (FTD) Evaluation that also includes the following genes: C9orf72 GRN MAPT
More info about this panelC9orf72 DNA Test Panel
By Athena Diagnostics Inc
This panel specifically test the C9orf72 gene.
More info about this panelAmyotrophic Lateral Sclerosis Advanced Evaluation Panel
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 panelNeurodegenerative Disease, C9orf72-Related Panel
By Center for Human Genetics, Inc
This panel specifically test the C9orf72 gene.
More info about this panelAmyotrophic Lateral Sclerosis and Frontotemporal Dementia Panel
By UCSF Molecular Diagnostics Laboratory University of California, San Francisco
This panel specifically test the C9orf72 gene.
More info about this panelC9orf72 Hexanucleotide Repeat Expansion Analysis Panel
By Molecular Pathology Laboratory University of Pennsylvania Health System
This panel specifically test the C9orf72 gene.
More info about this panelAmyotrophic Lateral Sclerosis Panel
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 panelDementia Panel
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 panelC9orf72 Panel
By Molecular Diagnostic Laboratory University of Alberta
This panel specifically test the C9orf72 gene.
More info about this panelAmyotrophic Lateral Sclerosis Panel
By Molecular Diagnostic Laboratory University of Alberta Amyotrophic Lateral Sclerosis that also includes the following genes: SOD1 C9orf72
More info about this panelC9orf72-Related Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Panel
By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust
This panel specifically test the C9orf72 gene.
More info about this panelC9orf72. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the C9orf72 gene.
More info about this panelSOD1, FUS, TARDBP, ANG, C9orf72. NextGeneDx.Complete sequencing by NGS Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica SOD1, FUS, TARDBP, ANG, C9orf72. NextGeneDx.Complete sequencing by NGS that also includes the following genes: SOD1 TARDBP C9orf72 FUS ANG
More info about this panelC9orf72. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the C9orf72 gene.
More info about this panelFrontotemporal dementia (detection of GGGGCC expansion on C9ORF72 gene) Panel
By CGC Genetics
This panel specifically test the C9orf72 gene.
More info about this panelAmyotrophic lateral sclerosis (detection of GGGGCC expansion on C9ORF72 gene) Panel
By CGC Genetics
This panel specifically test the C9orf72 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 panelClassic Amyotrophic Lateral Sclerosis Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Classic Amyotrophic Lateral Sclerosis Sequencing Panel with CNV Detection that also includes the following genes: SOD1 TARDBP C9orf72 FUS
More info about this panelC9orf72 Gene Hexanucleotide Repeat Expansion Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the C9orf72 gene.
More info about this panelDementia Sequencing Panel with CNV Detection Panel
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 panelC9orf72-Related Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Panel
By MGZ Medical Genetics Center
This panel specifically test the C9orf72 gene.
More info about this panelC9orf72 Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the C9orf72 gene.
More info about this panelAmyotrophic lateral sclerosis with frontotemporal dementia Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the C9orf72 gene.
More info about this panelAllNeuro panel Panel
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 panelALS panel Panel
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 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 panelC9orf72 Repeat Expansion Testing Panel
By MNG Laboratories (Medical Neurogenetics, LLC.)
This panel specifically test the C9orf72 gene.
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 panelChoreatic Movement Disorders Panel Panel
By CeGaT GmbH Choreatic Movement Disorders Panel that also includes the following genes: ATXN1 ATXN2 ATXN7 TBP NKX2-1 FRRS1L JPH3 RNF216 ADCY5 C9orf72
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 panelAtypical Parkinson syndrome Panel Panel
By CeGaT GmbH Atypical Parkinson syndrome Panel that also includes the following genes: ATXN2 SPG11 SYNJ1 TH FBXO7 DNAJC6 RAB39B ATP6AP2 ZFYVE26 SLC30A10
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 panelSingle gene testing C9orf72 Panel
By CeGaT GmbH
This panel specifically test the C9orf72 gene.
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 panelFRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE; FTD-ALS Panel
By Secugen SL
This panel specifically test the C9orf72 gene.
More info about this panelAmyotrophic lateral sclerosis and/or frontotemporal dementia Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the C9orf72 gene.
More info about this panelAmyotrophic Lateral Sclerosis NGS Panel Panel
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 panelC9orf72 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the C9orf72 gene.
More info about this panelAmyotrophic lateral sclerosis 9 Panel
By Bioarray
This panel specifically test the C9orf72 gene.
More info about this panelAMYOTROPHIC LATERAL SCLEROSIS (ALS) (AUTOSOMAL DOMINANT) Panel
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 panelFRONTOTEMPORAL DEMENTIA Panel
By Laboratorio de Genetica Clinica SL FRONTOTEMPORAL DEMENTIA that also includes the following genes: TARDBP CHMP2B C9orf72 GRN MAPT PSEN1
More info about this panelAlzheimer Disease, Panel Massive Sequencing (NGS) 8 Genes Panel
By Reference Laboratory Genetics Alzheimer Disease, Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: C9orf72 GRN APOE APP MAPT A2M PSEN1 PSEN2
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