frontotemporal dementia and/or amyotrophic lateral sclerosis 2

Summary
Synonym
  • FTDALS2
Definition
An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.
Super Class
amyotrophic lateral sclerosis
Disease Ontology
DOID:0060214
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
14004 Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2
The Human Phenotype Ontology
Displaying entries 21 - 30 of 34 in total
HPO ID HPO Term
HP:0002300 Mutism
HP:0002314 Degeneration of the lateral corticospinal tracts
HP:0002366 Abnormal lower motor neuron morphology
HP:0002380 Fasciculations
HP:0002385 Paraparesis
HP:0002442 Dyscalculia
HP:0002460 Distal muscle weakness
HP:0003487 Babinski sign
HP:0003700 Generalized amyotrophy
HP:0003701 Proximal muscle weakness
Displaying 1 entry
Gene ID Gene Symbol Description
7415 VCP valosin containing protein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: February 17, 2025