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.

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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

SOURCES: OMIM MESH ORPHANET

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

SOURCES: OMIM ORPHANET

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


Potential gene panels for C9orf72 gene

C9ORF72 (FTD) DNA Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the C9orf72 gene.

More info about this panel

Frontotemporal Dementia (FTD) Evaluation Panel

United States.

By Athena Diagnostics Inc Frontotemporal Dementia (FTD) Evaluation that also includes the following genes: C9orf72 GRN MAPT

More info about this panel

C9orf72 DNA Test Panel

United States.

By Athena Diagnostics Inc

This panel specifically test the C9orf72 gene.

More info about this panel

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

Neurodegenerative Disease, C9orf72-Related Panel

United States.

By Center for Human Genetics, Inc

This panel specifically test the C9orf72 gene.

More info about this panel

Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Panel

United States.

By UCSF Molecular Diagnostics Laboratory University of California, San Francisco

This panel specifically test the C9orf72 gene.

More info about this panel

C9orf72 Hexanucleotide Repeat Expansion Analysis Panel

United States.

By Molecular Pathology Laboratory University of Pennsylvania Health System

This panel specifically test the C9orf72 gene.

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

C9orf72 Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta

This panel specifically test the C9orf72 gene.

More info about this panel

Amyotrophic Lateral Sclerosis Panel

Canada.

By Molecular Diagnostic Laboratory University of Alberta Amyotrophic Lateral Sclerosis that also includes the following genes: SOD1 C9orf72

More info about this panel

C9orf72-Related Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Panel

United Kingdom.

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust

This panel specifically test the C9orf72 gene.

More info about this panel

C9orf72. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the C9orf72 gene.

More info about this panel

SOD1, FUS, TARDBP, ANG, C9orf72. NextGeneDx.Complete sequencing by NGS Panel

Spain.

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 panel

C9orf72. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the C9orf72 gene.

More info about this panel

Frontotemporal dementia (detection of GGGGCC expansion on C9ORF72 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the C9orf72 gene.

More info about this panel

Amyotrophic lateral sclerosis (detection of GGGGCC expansion on C9ORF72 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the C9orf72 gene.

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

Classic Amyotrophic Lateral Sclerosis Sequencing Panel with CNV Detection Panel

United States.

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 panel

C9orf72 Gene Hexanucleotide Repeat Expansion Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the C9orf72 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

C9orf72-Related Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the C9orf72 gene.

More info about this panel

C9orf72 Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the C9orf72 gene.

More info about this panel

Amyotrophic lateral sclerosis with frontotemporal dementia Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the C9orf72 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

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

C9orf72 Repeat Expansion Testing Panel

United States.

By MNG Laboratories (Medical Neurogenetics, LLC.)

This panel specifically test the C9orf72 gene.

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

Choreatic Movement Disorders Panel Panel

Germany.

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 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

Atypical Parkinson syndrome Panel Panel

Germany.

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 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 C9orf72 Panel

Germany.

By CeGaT GmbH

This panel specifically test the C9orf72 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 WITH MOTOR NEURON DISEASE; FTD-ALS Panel

Spain.

By Secugen SL

This panel specifically test the C9orf72 gene.

More info about this panel

Amyotrophic lateral sclerosis and/or frontotemporal dementia Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the C9orf72 gene.

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

C9orf72 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the C9orf72 gene.

More info about this panel

Amyotrophic lateral sclerosis 9 Panel

Spain.

By Bioarray

This panel specifically test the C9orf72 gene.

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

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

Alzheimer Disease, Panel Massive Sequencing (NGS) 8 Genes Panel

Spain.

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

More info about this panel


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