Frontotemporal dementia with motor neuron disease
General Information (adopted from Orphanet):
Synonyms, Signs: |
FTD-MND FTD-ALS Frontotemporal dementia with amyotrophic lateral sclerosis |
Number of Symptoms | 23 |
OrphanetNr: | 275872 |
OMIM Id: |
105550
608030 612069 |
ICD-10: |
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UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal dominant [Orphanet] |
Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Frontotemporal degeneration with dementia
-Rare neurologic disease Frontotemporal neurodegeneration with movement disorder -Rare genetic disease -Rare neurologic disease Genetic frontotemporal degeneration with dementia -Rare genetic disease |
Symptom Information:
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(HPO:0000605) | Supranuclear gaze palsy | Rare [HPO:probinson] | 16 / 7739 | |||
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(HPO:0001260) | Dysarthria | 329 / 7739 | ||||
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(HPO:0002273) | Tetraparesis | 15 / 7739 | ||||
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(HPO:0000738) | Hallucinations | 60 / 7739 | ||||
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(HPO:0007308) | Extrapyramidal dyskinesia | 5 / 7739 | ||||
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(HPO:0002385) | Paraparesis | 12 / 7739 | ||||
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(HPO:0001300) | Parkinsonism | 75 / 7739 | ||||
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(HPO:0002366) | Abnormal lower motor neuron morphology | 12 / 7739 | ||||
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(HPO:0002145) | Frontotemporal dementia | 14 / 7739 | ||||
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(HPO:0002186) | Apraxia | 22 / 7739 | ||||
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(HPO:0007354) | Amyotrophic lateral sclerosis | 25 / 7739 | ||||
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(HPO:0000746) | Delusions | 21 / 7739 | ||||
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(HPO:0002442) | Dyscalculia | 5 / 7739 | ||||
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(HPO:0000741) | Apathy | 42 / 7739 | ||||
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(HPO:0000716) | Depression | 99 / 7739 | ||||
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(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
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(HPO:0003202) | Skeletal muscle atrophy | 281 / 7739 | ||||
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(HPO:0003581) | Adult onset | 117 / 7739 | ||||
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(HPO:0003678) | Rapidly progressive | 33 / 7739 | ||||
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(HPO:0002529) | Neuronal loss in central nervous system | 37 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0002059) | Cerebral atrophy | 171 / 7739 | ||||
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(HPO:0002171) | Gliosis | 48 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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