Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7 (FTDALS7)

Alias:
Chromosome 3-Linked Frontotemporal Dementia
Ftd3
Amyotrophic Lateral Sclerosis, Chmp2b-Related
Frontotemporal Dementia, Chromosome 3-Linked
Chmp2b-Related Frontotemporal Dementia
Ftdals7
Dementia, Frontotemporal, Chromosome 3-Linked
Amyotrophic Lateral Sclerosis 17, Formerly
Sclerosis, Lateral, Amyotrophic, Type 17
Amyotrophic Lateral Sclerosis Type 17
Amyotrophic Lateral Sclerosis 17
Als17, Formerly
Ftd-Chmp2b
Ftd-3
Als17
Dtm1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7, also known as chromosome 3-linked frontotemporal dementia, is related to toxic encephalopathy and tauopathy, and has symptoms including muscle rigidity, myoclonus and abnormal pyramidal signs. An important gene associated with Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7 is CHMP2B (Charged Multivesicular Body Protein 2B), and among its related pathways/superpathways are Infectious disease and Vesicle-mediated transport. Affiliated tissues include spinal cord and temporal lobe, and related phenotypes are nervous system and mortality/aging
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
--
17
182
13

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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