FTDALS8
MCID: FRN061
MIFTS: 12

Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8 (FTDALS8)

Categories: Bone diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8

MalaCards integrated aliases for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8:

Name: Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8 57 6
Frontotemporal Dementia and/or Amytrophic Lateral Sclerosis 8 57
Ftdals8 57

Classifications:



External Ids:

OMIM® 57 619132
OMIM Phenotypic Series 57 PS105400 PS105550

Summaries for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8

OMIM® : 57 Frontotemporal dementia and/or amyotrophic lateral sclerosis-8 (FTDALS8) is an autosomal dominant neurodegenerative disorder characterized by adult-onset dementia manifest as memory impairment, executive dysfunction, and behavioral or personality changes. Some patients may develop ALS or parkinsonism. Neuropathologic studies show frontotemporal lobar degeneration (FTLD) with tau (MAPT; 157140)- and TDP43 (605078)-immunoreactive inclusions (summary by Dobson-Stone et al., 2020). For a discussion of genetic heterogeneity of FTDALS, see FTDALS1 (105550). (619132) (Updated 05-Mar-2021)

MalaCards based summary : Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8, is also known as frontotemporal dementia and/or amytrophic lateral sclerosis 8. An important gene associated with Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8 is CYLD (CYLD Lysine 63 Deubiquitinase).

Related Diseases for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8

Symptoms & Phenotypes for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8

Clinical features from OMIM®:

619132 (Updated 05-Mar-2021)

Drugs & Therapeutics for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8

Search Clinical Trials , NIH Clinical Center for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8

Genetic Tests for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8

Anatomical Context for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8

Publications for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8

Articles related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8:

# Title Authors PMID Year
1
CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis. 6 57
32185393 2020
2
Frontotemporal dementia-amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1-q12.2: genetic, clinical and neuropathological analysis. 57 6
23338750 2013
3
CYLD variants in frontotemporal dementia associated with severe memory impairment in a Portuguese cohort. 57
32666117 2020

Variations for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8

ClinVar genetic disease variations for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYLD NM_001378743.1(CYLD):c.2155A>G (p.Met719Val) SNV Pathogenic 992597 16:50825515-50825515 16:50791604-50791604

Expression for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8

Search GEO for disease gene expression data for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8.

Pathways for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8

GO Terms for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8

Sources for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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