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Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7 (FTDALS7)
Alias:
Amyotrophic Lateral Sclerosis
|
Frontotemporal Dementia
|
Frontotemporal Lobar Degeneration
|
Ftd3
|
Als
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Amyotrophic Lateral Sclerosis, Chmp2b-Related
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Frontotemporal Dementia, Chromosome 3-Linked
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Pallidopontonigral Degeneration
|
Lou Gehrig Disease
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Chromosome 3-Linked Frontotemporal Dementia
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Lou Gehrig's Disease
|
Charcot Disease
|
Ftdals7
|
Ftd
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Multiple System Tauopathy with Presenile Dementia
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Amyotrophic Lateral Sclerosis, Susceptibility to
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Chmp2b-Related Frontotemporal Dementia
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Amyotrophic Lateral Sclerosis 17
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Motor Neuron Disease, Bulbar
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Wilhemsen-Lynch Disease
|
Als17
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Amyotrophic Lateral Sclerosis Caused by Mutation in Chmp2b
|
Motor Neuron Disease, Amyotrophic Lateral Sclerosis
|
Frontotemporal Dementia with Motor Neuron Disease
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Dementia in Fronto-Temporal Lobar Degeneration
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Chmp2b-Related Amyotrophic Lateral Sclerosis
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Frontotemporal Dementia with Parkinsonism-17
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Amyotrophic Lateral Sclerosis with Dementia
|
Dementia with Amyotrophic Lateral Sclerosis
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Amyotrophic Lateral Sclerosis 17, Formerly
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Amyotrophic Lateral Sclerosis Type 17
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Chmp2b Amyotrophic Lateral Sclerosis
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Grn-Related Frontotemporal Dementia
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Amyotrophic Lateral Sclerosis-Plus
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Progressive Atrophic Paralysis
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Spinal Progressive Amyotrophy
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Frontotemporal Lobe Dementia
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Amyotrophy Lateral Sclerosis
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Pick Disease of the Brain
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Chmp2b-Related Disorder
|
Frontal Lobe Dementia
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Amyotrophic Sclerosis
|
Amyotrophic Paralysis
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Wasting Paralysis
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Als17, Formerly
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Temple Dementia
|
Chmp2b-Related
|
Wasting Palsy
|
Ftd-Chmp2b
|
Ftd-3
|
Dtm1
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Frontotemporal dementia and/or amyotrophic lateral sclerosis-7 (FTDALS7) is an autosomal dominant neurodegenerative disorder characterized by onset of ALS or FTD in adulthood. Patients may exhibit muscle weakness, wasting, bulbar signs, respiratory insufficiency, behavioral changes, memory loss, cognitive decline, and disinhibition. Pathology shows UBB, p62/sequestosome, and TDP43-immunoreactive intraneuronal inclusions. FTD involves frontal and temporal lobe atrophy with neuronal loss, gliosis, and dementia. ALS is characterized by motor neuron death in the brain and spinal cord, leading to paralysis. FTDALS7 can manifest as both ALS and FTD. ALS, also known as Lou Gehrig's disease, affects motor neurons causing muscle problems, speech difficulties, and respiratory failure. FTD is a group of disorders involving behavioral changes, executive dysfunction, and language impairment due to brain degeneration. Familial ALS (FALS) constitutes 5-10% of cases and may involve mutations in the C9ORF72 and SOD1 genes. ALS-PDC is a rare form of ALS with parkinsonism and dementia. FTD can present with personality changes, language deficits, or movement-related issues. Onset of FTD is insidious with a gradual decline in behavior or language. ALS is progressive with muscle twitching, cramps, weakness, and eventual loss of voluntary muscle control. Diagnosis is based on symptoms and tests to rule out other diseases. No cure exists, but medications can manage symptoms and prolong survival.
Related ID:
MALACARDS: FRN059
|
OMIM: 600795
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MESH: C563003
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ICD11: 1982355687
Basic Information
Inheritance
Age of Onset
Prevalence
Related Genes
Related Mouse Models
Reference
MALACARDS
AD
Autosomal dominant
AR
Autosomal recessive
Adult
1-9/1000000
Annual incidence:
1-9/1000000 (Taiwan, Province of China, Iran, Islamic Republic of)
1-9/100000 (Italy)
1-9/100000 (Europe, United Kingdom, Ireland, Finland, United States, Uruguay, Denmark, Italy, France, Spain, Norway, Faroe Islands, Specific population, Specific population)
Point prevalence:
1-5/10000 (Specific population)
1-9/100000 (Europe, United Kingdom, Ireland, Finland, Canada, Uruguay, Denmark, Spain, Norway, Taiwan, Province of China, Iran, Islamic Republic of, Specific population)
2197
16722
381
FRN059
Medical Symptom
Phenotype Information Associated with the Current Disease:
Categorization: Anatomical classification of the disease manifestations.
HPO Frequency/Orphanet Frequency: Indicates the probability of the manifestation occurring in the current disease, allowing sorting by probability.
HPO Source Accession: Links to HPO for detailed manifestation information.
Data Source: HPO, Orphanet
Gene & Mutation
Genes and Mutations Associated with the Current Disease:
Function: Primary biological roles of the genes.
Score: Indicates the strength of the association between the disease and the gene, with higher scores reflecting stronger associations.
Count: Number of mutations associated with the disease-gene pair. The number in parentheses represents the total data points linked to the same ClinVar ID. Clicking the number reveals mutation details.
Data Source: Clinvar
Related Drugs
Drugs Related to the Current Gene, Displaying CAS Number, Status and Phase.
Data Source: Clinical Trials
Related Mouse Models
Mouse Models Related to the Current Gene. Click on the model name to view detailed information.
Data Source: MGI, Cyagen
References Literature
Most Relevant Literature for the Current Gene, Filterable by Year, Article Type, and Sortable by Impact Factor.
Data Source: UniProt, PubMed
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