FTDALS1
MCID: FRN044
MIFTS: 48

Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 (FTDALS1)

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

Aliases & Classifications for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

MalaCards integrated aliases for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:

Name: Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 58 12 76
Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia 58 12 76 13
Ftdals1 58 12 76 15
Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia 1 30 6 74
Frontotemporal Dementia and/or Motor Neuron Disease 58 12 76
Ftdmnd 58 12 76
Alsftd 58 12 76
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 58 30
Frontotemporal Dementia with Motor Neuron Disease 60 74
Frontotemporal Lobar Degeneration 45 74
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis; Ftdals 58
Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia; Alsftd 58
Frontotemporal Dementia and/or Motor Neuron Disease; Ftdmnd 58
Frontotemporal Dementia with Amyotrophic Lateral Sclerosis 60
Grn-Related Frontotemporal Dementia 74
Ftd-Als 60
Ftd-Mnd 60
Ftdals 58

Characteristics:

Orphanet epidemiological data:

60
frontotemporal dementia with motor neuron disease
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: adult;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in adulthood
rapidly progressive
patients can have als, ftd, or both
intrafamilial variability


HPO:

33
frontotemporal dementia and/or amyotrophic lateral sclerosis 1:
Onset and clinical course adult onset rapidly progressive
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

OMIM : 58 Frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) is an autosomal dominant neurodegenerative disorder characterized by adult onset of one or both of these features in an affected individual, with significant intrafamilial variation. The disorder is genetically and pathologically heterogeneous (summary by Vance et al., 2006). Patients with C9ORF72 repeat expansions tend to show a lower age of onset, shorter survival, bulbar symptom onset, increased incidence of neurodegenerative disease in relatives, and a propensity toward psychosis or hallucinations compared to patients with other forms of ALS and/or FTD (summary by Harms et al., 2013). Patients with C9ORF72 repeat expansions also show psychiatric disturbances that may predate the onset of dementia (Meisler et al., 2013; Gomez-Tortosa et al., 2013). For a general phenotypic description of frontotemporal dementia, also known as frontotemporal lobar degeneration (FTLD), see 600274. For a general discussion of motor neuron disease (MND), see amyotrophic lateral sclerosis-1 (ALS1; 105400). (105550)

MalaCards based summary : Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1, also known as amyotrophic lateral sclerosis and/or frontotemporal dementia, is related to frontotemporal lobar degeneration with tdp43 inclusions, grn-related and amyotrophic lateral sclerosis 10 with or without frontotemporal dementia, and has symptoms including muscle weakness, abnormality of extrapyramidal motor function and paraparesis. An important gene associated with Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 is C9orf72 (C9orf72-SMCR8 Complex Subunit), and among its related pathways/superpathways is Mitophagy - animal. Affiliated tissues include brain, temporal lobe and spinal cord, and related phenotypes are frontotemporal dementia and abnormal upper motor neuron morphology

Disease Ontology : 12 An amyotrophic lateral sclerosis that has material basis in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis.

UniProtKB/Swiss-Prot : 76 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1: An autosomal dominant neurodegenerative disorder characterized by adult onset of frontotemporal dementia and/or amyotrophic lateral sclerosis in an affected individual. 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.

Related Diseases for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Diseases in the Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 family:

Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

Diseases related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 34.7 GRN MAPT
2 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 33.1 TARDBP OPTN FUS
3 pick disease of brain 32.5 FUS GRN MAPT SQSTM1 TARDBP
4 semantic dementia 32.3 C9orf72 CHMP2B GRN MAPT TARDBP TMEM106B
5 progressive non-fluent aphasia 31.7 C9orf72 CHMP2B GRN MAPT TMEM106B VCP
6 apraxia 30.6 C9orf72 GRN MAPT
7 aphasia 30.4 C9orf72 CHMP2B GRN MAPT
8 paget's disease of bone 30.4 OPTN SQSTM1 VCP
9 inclusion body myositis 30.3 MAPT SQSTM1 TARDBP VCP
10 motor neuron disease 29.9 C9orf72 CHCHD10 FUS GRN MAPT OPTN
11 lateral sclerosis 29.3 ATXN2 C9orf72 CHCHD10 FUS OPTN SQSTM1
12 frontotemporal dementia 28.7 C9orf72 CHCHD10 CHMP2B FUS GRN IFT74
13 dementia 28.7 ATXN2 C9orf72 CHCHD10 CHMP2B FUS GRN
14 amyotrophic lateral sclerosis 1 27.0 ATXN2 C9orf72 CHCHD10 CHMP2B FUS GRN
15 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 13.1
16 grn-related frontotemporal dementia 11.7
17 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 11.1
18 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 11.1
19 alzheimer disease 11.1
20 intermittent claudication 10.8
21 sarcoma 10.5
22 supranuclear palsy, progressive, 1 10.4
23 corticobasal degeneration 10.4
24 phonagnosia 10.4 GRN TARDBP
25 associative agnosia 10.4 GRN TARDBP
26 postpoliomyelitis syndrome 10.4 TARDBP VCP
27 expressive language disorder 10.3 FUS TARDBP
28 multiple system atrophy 1 10.3
29 neuronal ceroid lipofuscinosis 10.3
30 inclusion body myopathy with paget disease of bone and frontotemporal dementia 10.3 TARDBP VCP
31 writing disorder 10.3 GRN TARDBP
32 amyotrophic lateral sclerosis type 6 10.3 FUS TARDBP
33 amyotrophic lateral sclerosis 18 10.3 C9orf72 FUS TARDBP
34 mills syndrome 10.3
35 brown-vialetto-van laere syndrome 10.3 UBQLN2 TARDBP C9orf72
36 perry syndrome 10.3 TARDBP GRN C9orf72
37 progressive muscular atrophy 10.3 C9orf72 TARDBP
38 polyglucosan body neuropathy, adult form 10.2
39 cognitive function 1, social 10.2
40 aging 10.2
41 frontotemporal dementia, chromosome 3-linked 10.2
42 adult polyglucosan body disease 10.2
43 amnestic disorder 10.2
44 pathological gambling 10.2
45 ideomotor apraxia 10.2 GRN MAPT
46 mutism 10.2 CHMP2B GRN
47 postencephalitic parkinson disease 10.2 MAPT TARDBP
48 spinocerebellar ataxia 36 10.2 ATXN2 TARDBP
49 amyotrophic lateral sclerosis 11 10.2 FUS TARDBP OPTN
50 antiphospholipid syndrome 10.2

Graphical network of the top 20 diseases related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:



Diseases related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Symptoms & Phenotypes for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Human phenotypes related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:

60 33 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontotemporal dementia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002145
2 abnormal upper motor neuron morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0002127
3 abnormal lower motor neuron morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0002366
4 depressivity 60 33 frequent (33%) Frequent (79-30%) HP:0000716
5 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
6 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
7 hallucinations 60 33 frequent (33%) Frequent (79-30%) HP:0000738
8 apraxia 60 33 frequent (33%) Frequent (79-30%) HP:0002186
9 progressive cerebellar ataxia 60 33 frequent (33%) Frequent (79-30%) HP:0002073
10 proximal muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003701
11 degeneration of the lateral corticospinal tracts 60 33 frequent (33%) Frequent (79-30%) HP:0002314
12 generalized amyotrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003700
13 distal muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0002460
14 parkinsonism 60 33 frequent (33%) Frequent (79-30%) HP:0001300
15 gliosis 60 33 frequent (33%) Frequent (79-30%) HP:0002171
16 apathy 60 33 frequent (33%) Frequent (79-30%) HP:0000741
17 tetraparesis 60 33 frequent (33%) Frequent (79-30%) HP:0002273
18 paraparesis 60 33 frequent (33%) Frequent (79-30%) HP:0002385
19 dyscalculia 60 33 frequent (33%) Frequent (79-30%) HP:0002442
20 neuronal loss in the cerebral cortex 60 33 frequent (33%) Frequent (79-30%) HP:0007190
21 babinski sign 60 33 occasional (7.5%) Occasional (29-5%) HP:0003487
22 fasciculations 60 33 occasional (7.5%) Occasional (29-5%) HP:0002380
23 hyporeflexia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001265
24 disinhibition 60 33 occasional (7.5%) Occasional (29-5%) HP:0000734
25 bulbar palsy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001283
26 supranuclear gaze palsy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000605
27 abnormal mitochondrial morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0008322
28 bilateral sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0008619
29 mutism 60 33 occasional (7.5%) Occasional (29-5%) HP:0002300
30 global brain atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0002283
31 perseveration 60 33 occasional (7.5%) Occasional (29-5%) HP:0030223
32 ptosis 60 33 very rare (1%) Very rare (<4-1%) HP:0000508
33 muscle weakness 33 HP:0001324
34 behavioral abnormality 60 Frequent (79-30%)
35 skeletal muscle atrophy 33 HP:0003202
36 amyotrophic lateral sclerosis 33 HP:0007354
37 abnormality of extrapyramidal motor function 60 Frequent (79-30%)
38 cerebral atrophy 33 HP:0002059
39 neuronal loss in central nervous system 33 HP:0002529
40 delusions 33 HP:0000746
41 extrapyramidal dyskinesia 33 HP:0007308
42 weakness due to upper motor neuron dysfunction 60 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
hallucinations
apraxia
parkinsonism
gliosis
more
Neurologic Behavioral Psychiatric Manifestations:
apathy
depression
executive dysfunction
poor judgement

Muscle Soft Tissue:
muscle weakness
muscle atrophy

Head And Neck Eyes:
supranuclear gaze palsy (less common)

Clinical features from OMIM:

105550

UMLS symptoms related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:


muscle weakness, abnormality of extrapyramidal motor function, paraparesis, quadriparesis

Drugs & Therapeutics for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Understanding Clinical Phenotype and Collecting Biomarker Samples in C9ORF72 ALS Completed NCT02686268
2 Diagnosing Frontotemporal Lobar Degeneration Recruiting NCT02964637

Search NIH Clinical Center for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Cochrane evidence based reviews: frontotemporal lobar degeneration

Genetic Tests for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Genetic tests related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:

# Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia 1 30 C9orf72
2 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 30

Anatomical Context for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

MalaCards organs/tissues related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:

42
Brain, Temporal Lobe, Spinal Cord, Bone, Cortex, Skeletal Muscle

Publications for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Articles related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:

(show all 11)
# Title Authors Year
1
C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration. ( 23284068 )
2013
2
Genetic analysis of SIGMAR1 as a cause of familial ALS with dementia. ( 22739338 )
2013
3
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder. ( 22692064 )
2013
4
A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats. ( 23111906 )
2013
5
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. ( 23393093 )
2013
6
Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. ( 22366793 )
2012
7
Chromosome 9 ALS and FTD locus is probably derived from a single founder. ( 21925771 )
2012
8
Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. ( 21072532 )
2011
9
Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family. ( 20562461 )
2011
10
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. ( 21944778 )
2011
11
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. ( 21944779 )
2011

Variations for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

ClinVar genetic disease variations for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:

6 (show top 50) (show all 104)
# Gene Variation Type Significance SNP ID Assembly Location
1 SQSTM1 NM_003900.4(SQSTM1): c.1175C> T (p.Pro392Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs104893941 GRCh37 Chromosome 5, 179263445: 179263445
2 SQSTM1 NM_003900.4(SQSTM1): c.1175C> T (p.Pro392Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs104893941 GRCh38 Chromosome 5, 179836445: 179836445
3 SQSTM1 NM_003900.4(SQSTM1): c.970_1165del single nucleotide variant Pathogenic rs796051870 GRCh38 Chromosome 5, 179833783: 179833783
4 SQSTM1 NM_003900.4(SQSTM1): c.970_1165del single nucleotide variant Pathogenic rs796051870 GRCh37 Chromosome 5, 179260783: 179260783
5 C9orf72 NM_001256054.1(C9orf72): c.-45+163_-45+168GGGGCC[(24_?)] NT expansion Pathogenic rs143561967 GRCh37 Chromosome 9, 27573527: 27573532
6 C9orf72 NM_001256054.1(C9orf72): c.-45+163_-45+168GGGGCC[(24_?)] NT expansion Pathogenic rs143561967 GRCh38 Chromosome 9, 27573529: 27573534
7 C9orf72 NM_001256054.2(C9orf72): c.-45+163_-45+180GGGGCC(2_25) NT expansion Benign rs143561967 GRCh38 Chromosome 9, 27573529: 27573534
8 C9orf72 NM_001256054.2(C9orf72): c.-45+163_-45+180GGGGCC(2_25) NT expansion Benign rs143561967 GRCh37 Chromosome 9, 27573527: 27573532
9 C9orf72 NG_031977.1: g.5321_5326GGGGCC(60_?) NT expansion Pathogenic rs143561967 GRCh38 Chromosome 9, 27573529: 27573534
10 C9orf72 NG_031977.1: g.5321_5326GGGGCC(60_?) NT expansion Pathogenic rs143561967 GRCh37 Chromosome 9, 27573527: 27573532
11 SQSTM1 NM_003900.4(SQSTM1): c.714_716delGAA (p.Lys238del) deletion Uncertain significance rs796052214 GRCh38 Chromosome 5, 179825186: 179825188
12 SQSTM1 NM_003900.4(SQSTM1): c.714_716delGAA (p.Lys238del) deletion Uncertain significance rs796052214 GRCh37 Chromosome 5, 179252186: 179252188
13 SQSTM1 NM_001142298.1(SQSTM1): c.-47-1924C> T single nucleotide variant Likely benign rs200396166 GRCh38 Chromosome 5, 179821034: 179821034
14 SQSTM1 NM_001142298.1(SQSTM1): c.-47-1924C> T single nucleotide variant Likely benign rs200396166 GRCh37 Chromosome 5, 179248034: 179248034
15 SQSTM1 NM_003900.4(SQSTM1): c.822G> C (p.Glu274Asp) single nucleotide variant Benign/Likely benign rs55793208 GRCh37 Chromosome 5, 179260099: 179260099
16 SQSTM1 NM_003900.4(SQSTM1): c.822G> C (p.Glu274Asp) single nucleotide variant Benign/Likely benign rs55793208 GRCh38 Chromosome 5, 179833099: 179833099
17 SQSTM1 NM_003900.4(SQSTM1): c.924G> A (p.Ala308=) single nucleotide variant Likely benign rs139482113 GRCh37 Chromosome 5, 179260201: 179260201
18 SQSTM1 NM_003900.4(SQSTM1): c.924G> A (p.Ala308=) single nucleotide variant Likely benign rs139482113 GRCh38 Chromosome 5, 179833201: 179833201
19 SQSTM1 NM_003900.4(SQSTM1): c.954C> T (p.Ser318=) single nucleotide variant Benign/Likely benign rs56092424 GRCh37 Chromosome 5, 179260231: 179260231
20 SQSTM1 NM_003900.4(SQSTM1): c.954C> T (p.Ser318=) single nucleotide variant Benign/Likely benign rs56092424 GRCh38 Chromosome 5, 179833231: 179833231
21 SQSTM1 NM_003900.4(SQSTM1): c.961C> T (p.Arg321Cys) single nucleotide variant Benign/Likely benign rs140226523 GRCh37 Chromosome 5, 179260238: 179260238
22 SQSTM1 NM_003900.4(SQSTM1): c.961C> T (p.Arg321Cys) single nucleotide variant Benign/Likely benign rs140226523 GRCh38 Chromosome 5, 179833238: 179833238
23 SQSTM1 NM_003900.4(SQSTM1): c.1044G> A (p.Pro348=) single nucleotide variant Benign/Likely benign rs10058037 GRCh37 Chromosome 5, 179260661: 179260661
24 SQSTM1 NM_003900.4(SQSTM1): c.1044G> A (p.Pro348=) single nucleotide variant Benign/Likely benign rs10058037 GRCh38 Chromosome 5, 179833661: 179833661
25 SQSTM1 NM_003900.4(SQSTM1): c.819A> G (p.Pro273=) single nucleotide variant Conflicting interpretations of pathogenicity rs200388590 GRCh38 Chromosome 5, 179833096: 179833096
26 SQSTM1 NM_003900.4(SQSTM1): c.819A> G (p.Pro273=) single nucleotide variant Conflicting interpretations of pathogenicity rs200388590 GRCh37 Chromosome 5, 179260096: 179260096
27 SQSTM1 NM_003900.4(SQSTM1): c.955G> A (p.Glu319Lys) single nucleotide variant Benign/Likely benign rs61748794 GRCh38 Chromosome 5, 179833232: 179833232
28 SQSTM1 NM_003900.4(SQSTM1): c.955G> A (p.Glu319Lys) single nucleotide variant Benign/Likely benign rs61748794 GRCh37 Chromosome 5, 179260232: 179260232
29 SQSTM1 NM_003900.4(SQSTM1): c.183C> T (p.Gly61=) single nucleotide variant Benign/Likely benign rs767340839 GRCh38 Chromosome 5, 179821119: 179821119
30 SQSTM1 NM_003900.4(SQSTM1): c.183C> T (p.Gly61=) single nucleotide variant Benign/Likely benign rs767340839 GRCh37 Chromosome 5, 179248119: 179248119
31 SQSTM1 NM_003900.4(SQSTM1): c.612A> G (p.Gly204=) single nucleotide variant Conflicting interpretations of pathogenicity rs878982215 GRCh38 Chromosome 5, 179824262: 179824262
32 SQSTM1 NM_003900.4(SQSTM1): c.612A> G (p.Gly204=) single nucleotide variant Conflicting interpretations of pathogenicity rs878982215 GRCh37 Chromosome 5, 179251262: 179251262
33 C9orf72 NM_001256054.2(C9orf72): c.870C> T (p.Ser290=) single nucleotide variant Benign rs10122902 GRCh38 Chromosome 9, 27556782: 27556782
34 C9orf72 NM_001256054.2(C9orf72): c.870C> T (p.Ser290=) single nucleotide variant Benign rs10122902 GRCh37 Chromosome 9, 27556780: 27556780
35 C9orf72 NM_001256054.2(C9orf72): c.620A> G (p.Asn207Ser) single nucleotide variant Likely benign rs17769294 GRCh38 Chromosome 9, 27561630: 27561630
36 C9orf72 NM_001256054.2(C9orf72): c.620A> G (p.Asn207Ser) single nucleotide variant Likely benign rs17769294 GRCh37 Chromosome 9, 27561628: 27561628
37 SQSTM1 NM_003900.4(SQSTM1): c.1230C> T (p.Gly410=) single nucleotide variant Likely benign rs766437927 GRCh37 Chromosome 5, 179263500: 179263500
38 SQSTM1 NM_003900.4(SQSTM1): c.1230C> T (p.Gly410=) single nucleotide variant Likely benign rs766437927 GRCh38 Chromosome 5, 179836500: 179836500
39 SQSTM1 NM_003900.4(SQSTM1): c.46G> A (p.Ala16Thr) single nucleotide variant Uncertain significance rs773552098 GRCh38 Chromosome 5, 179820982: 179820982
40 SQSTM1 NM_003900.4(SQSTM1): c.46G> A (p.Ala16Thr) single nucleotide variant Uncertain significance rs773552098 GRCh37 Chromosome 5, 179247982: 179247982
41 SQSTM1 NM_003900.4(SQSTM1): c.204C> G (p.Arg68=) single nucleotide variant Uncertain significance rs1449269769 GRCh37 Chromosome 5, 179248140: 179248140
42 SQSTM1 NM_003900.4(SQSTM1): c.204C> G (p.Arg68=) single nucleotide variant Uncertain significance rs1449269769 GRCh38 Chromosome 5, 179821140: 179821140
43 SQSTM1 NM_003900.4(SQSTM1): c.268G> A (p.Val90Met) single nucleotide variant Uncertain significance rs181263868 GRCh37 Chromosome 5, 179250020: 179250020
44 SQSTM1 NM_003900.4(SQSTM1): c.268G> A (p.Val90Met) single nucleotide variant Uncertain significance rs181263868 GRCh38 Chromosome 5, 179823020: 179823020
45 SQSTM1 NM_003900.4(SQSTM1): c.317G> A (p.Arg106Gln) single nucleotide variant Uncertain significance rs778554903 GRCh38 Chromosome 5, 179823873: 179823873
46 SQSTM1 NM_003900.4(SQSTM1): c.317G> A (p.Arg106Gln) single nucleotide variant Uncertain significance rs778554903 GRCh37 Chromosome 5, 179250873: 179250873
47 SQSTM1 NM_003900.4(SQSTM1): c.888G> A (p.Pro296=) single nucleotide variant Benign rs148984239 GRCh38 Chromosome 5, 179833165: 179833165
48 SQSTM1 NM_003900.4(SQSTM1): c.888G> A (p.Pro296=) single nucleotide variant Benign rs148984239 GRCh37 Chromosome 5, 179260165: 179260165
49 SQSTM1 NM_003900.4(SQSTM1): c.1178G> A (p.Arg393Gln) single nucleotide variant Uncertain significance rs200551825 GRCh37 Chromosome 5, 179263448: 179263448
50 SQSTM1 NM_003900.4(SQSTM1): c.1178G> A (p.Arg393Gln) single nucleotide variant Uncertain significance rs200551825 GRCh38 Chromosome 5, 179836448: 179836448

Copy number variations for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 112169 17 38100000 38400000 Deletion MAPT Frontotemporal lobar degeneration
2 112794 17 41065963 41505032 Insertion CRHR1 Frontotemporal lobar degeneration
3 112795 17 41065963 41505032 Insertion IMP5 Frontotemporal lobar degeneration
4 112796 17 41065963 41505032 Insertion MAPT Frontotemporal lobar degeneration
5 112797 17 41065963 41505032 Insertion STH Frontotemporal lobar degeneration
6 113644 17 44900000 47400000 Deletion GRN Frontotemporal lobar degeneration

Expression for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Search GEO for disease gene expression data for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1.

Pathways for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Pathways related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.61 OPTN SQSTM1 TBK1

GO Terms for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Cellular components related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.85 C9orf72 IFT74 OPTN SQSTM1 UBQLN2
2 endosome GO:0005768 9.73 C9orf72 CHMP2B GRN OPTN SQSTM1 TMEM106B
3 lysosome GO:0005764 9.72 C9orf72 CHMP2B GRN SQSTM1 TMEM106B
4 cytoplasmic stress granule GO:0010494 9.58 ATXN2 C9orf72 VCP
5 autophagosome GO:0005776 9.46 C9orf72 OPTN SQSTM1 UBQLN2
6 main axon GO:0044304 9.37 C9orf72 MAPT
7 guanyl-nucleotide exchange factor complex GO:0032045 9.13 C9orf72 SMCR8 WDR41
8 Atg1/ULK1 kinase complex GO:1990316 8.8 C9orf72 SMCR8 WDR41
9 cytoplasm GO:0005737 10.28 ATXN2 C9orf72 CHMP2B FUS MAPT OPTN

Biological processes related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.71 MAPT SMCR8 TARDBP TBK1
2 macroautophagy GO:0016236 9.61 CHMP2B SQSTM1 VCP
3 regulation of autophagy GO:0010506 9.46 C9orf72 MAPT SMCR8 WDR41
4 regulation of autophagosome assembly GO:2000785 9.37 C9orf72 UBQLN2
5 positive regulation of xenophagy GO:1904417 9.32 OPTN TBK1
6 regulation of TORC1 signaling GO:1903432 9.26 C9orf72 SMCR8
7 autophagy GO:0006914 9.23 C9orf72 CHMP2B OPTN SMCR8 SQSTM1 UBQLN2
8 stress granule assembly GO:0034063 9.13 ATXN2 C9orf72 MAPT

Molecular functions related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.7 FUS MAPT OPTN SQSTM1 TARDBP TBK1
2 protein binding GO:0005515 9.58 ATXN2 C9orf72 CHCHD10 CHMP2B FUS GRN
3 polyubiquitin modification-dependent protein binding GO:0031593 9.32 OPTN VCP
4 K63-linked polyubiquitin modification-dependent protein binding GO:0070530 9.26 OPTN SQSTM1
5 Rab guanyl-nucleotide exchange factor activity GO:0017112 9.13 C9orf72 SMCR8 WDR41

Sources for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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