MCID: FRN043
MIFTS: 24

Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3

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

Aliases & Classifications for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3

MalaCards integrated aliases for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3:

Name: Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 57 12 75 29 6
Ftdals3 57 12 75
Dementia, Frontotemporal, and/or Amyotrophic Lateral Sclerosis, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
phenotypic variability
onset in late adulthood
patients may have either dementia or motor neuron disease or both


HPO:

32
frontotemporal dementia and/or amyotrophic lateral sclerosis 3:
Onset and clinical course phenotypic variability progressive
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3

UniProtKB/Swiss-Prot : 75 Frontotemporal dementia and/or amyotrophic lateral sclerosis 3: A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. Some FTDALS3 patients may also develop Paget disease of bone.

MalaCards based summary : Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3, is also known as ftdals3. An important gene associated with Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 is SQSTM1 (Sequestosome 1). Affiliated tissues include bone, temporal lobe and spinal cord, and related phenotypes are disinhibition and apathy

Disease Ontology : 12 An amyotrophic lateral sclerosis that has material basis in mutation in the SQSTM1 gene on chromosome 5q35.

OMIM : 57 Frontotemporal dementia and/or amyotrophic lateral sclerosis-3 is an autosomal dominant neurodegenerative disorder characterized by adult or late adult onset of cognitive impairment, behavioral abnormalities, and speech apraxia and/or upper and lower motor neuron signs. Some patients may also develop Paget disease of bone. The phenotype is highly variable, even within families (summary by Rea et al., 2014). For a discussion of genetic heterogeneity of FTDALS, see FTDALS1 (105550). (616437)

Related Diseases for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3

Symptoms & Phenotypes for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
hyperreflexia
amyotrophic lateral sclerosis
hyporeflexia
language impairment
more
Abdomen Gastrointestinal:
dysphagia
swallowing difficulties

Respiratory:
bulbar weakness

Skeletal:
paget disease of bone (in some patients)

Muscle Soft Tissue:
muscle weakness
fasciculations
amyotrophy
fibrillations

Neurologic Behavioral Psychiatric Manifestations:
disinhibition
apathy
personality changes
executive dysfunction
abnormal behavior

Head And Neck Face:
orofacial apraxia


Clinical features from OMIM:

616437

Human phenotypes related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 disinhibition 32 HP:0000734
2 apathy 32 HP:0000741
3 personality changes 32 HP:0000751
4 dysarthria 32 HP:0001260
5 hyporeflexia 32 HP:0001265
6 bulbar palsy 32 HP:0001283
7 hyperreflexia 32 HP:0001347
8 dysphagia 32 HP:0002015
9 cerebral cortical atrophy 32 HP:0002120
10 frontotemporal dementia 32 HP:0002145
11 mutism 32 HP:0002300
12 abnormal lower motor neuron morphology 32 HP:0002366
13 fasciculations 32 HP:0002380
14 language impairment 32 HP:0002463
15 skeletal muscle atrophy 32 HP:0003202
16 amyotrophic lateral sclerosis 32 HP:0007354

Drugs & Therapeutics for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3

Search Clinical Trials , NIH Clinical Center for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3

Genetic Tests for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3

Genetic tests related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3:

# Genetic test Affiliating Genes
1 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 29 SQSTM1

Anatomical Context for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3

MalaCards organs/tissues related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3:

41
Bone, Temporal Lobe, Spinal Cord, Brain, Skeletal Muscle

Publications for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3

Variations for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3

UniProtKB/Swiss-Prot genetic disease variations for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3:

75 (show all 24)
# Symbol AA change Variation ID SNP ID
1 SQSTM1 p.Pro387Leu VAR_023592 rs776749939
2 SQSTM1 p.Pro392Leu VAR_023593 rs104893941
3 SQSTM1 p.Gly411Ser VAR_023597 rs143511494
4 SQSTM1 p.Gly425Arg VAR_023598 rs757212984
5 SQSTM1 p.Ala16Val VAR_073899
6 SQSTM1 p.Ala33Val VAR_073901 rs200396166
7 SQSTM1 p.Asp80Glu VAR_073902 rs148366738
8 SQSTM1 p.Val90Met VAR_073903 rs181263868
9 SQSTM1 p.Arg107Trp VAR_073906 rs771903158
10 SQSTM1 p.Asp129Asn VAR_073912 rs753212399
11 SQSTM1 p.Val153Ile VAR_073914 rs145056421
12 SQSTM1 p.Arg212Cys VAR_073916 rs201263163
13 SQSTM1 p.Gly219Val VAR_073918
14 SQSTM1 p.Ser226Pro VAR_073919 rs765200636
15 SQSTM1 p.Pro228Leu VAR_073920 rs151191977
16 SQSTM1 p.Pro232Thr VAR_073921
17 SQSTM1 p.Asp258Asn VAR_073923 rs774986849
18 SQSTM1 p.Ser318Pro VAR_073927
19 SQSTM1 p.Arg321Cys VAR_073929 rs140226523
20 SQSTM1 p.Asp329Gly VAR_073930 rs148294622
21 SQSTM1 p.Pro348Leu VAR_073932 rs772889843
22 SQSTM1 p.Ser370Pro VAR_073934 rs143956614
23 SQSTM1 p.Ala381Val VAR_073935 rs772122047
24 SQSTM1 p.Thr430Pro VAR_073936 rs770118706

ClinVar genetic disease variations for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SQSTM1 NM_003900.4(SQSTM1): c.1160C> T (p.Pro387Leu) single nucleotide variant Likely pathogenic rs776749939 GRCh38 Chromosome 5, 179833777: 179833777
2 SQSTM1 NM_003900.4(SQSTM1): c.1160C> T (p.Pro387Leu) single nucleotide variant Likely pathogenic rs776749939 GRCh37 Chromosome 5, 179260777: 179260777
3 SQSTM1 NM_003900.4(SQSTM1): c.714_716delGAA (p.Lys238del) deletion Pathogenic rs796052214 GRCh38 Chromosome 5, 179825186: 179825188
4 SQSTM1 NM_003900.4(SQSTM1): c.714_716delGAA (p.Lys238del) deletion Pathogenic rs796052214 GRCh37 Chromosome 5, 179252186: 179252188
5 SQSTM1 NM_001142298.1(SQSTM1): c.-47-1924C> T single nucleotide variant Likely benign rs200396166 GRCh38 Chromosome 5, 179821034: 179821034
6 SQSTM1 NM_001142298.1(SQSTM1): c.-47-1924C> T single nucleotide variant Likely benign rs200396166 GRCh37 Chromosome 5, 179248034: 179248034

Expression for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3

Search GEO for disease gene expression data for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3.

Pathways for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3

GO Terms for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3

Sources for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
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49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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