FTDALS1
MCID: FRN044
MIFTS: 50

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 57 12 75
Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia 57 12 75 13
Ftdals1 57 12 75 15
Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia 1 29 6 73
Frontotemporal Dementia and/or Motor Neuron Disease 57 12 75
Ftdmnd 57 12 75
Alsftd 57 12 75
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 57 29
Frontotemporal Dementia with Motor Neuron Disease 59 73
Frontotemporal Lobar Degeneration 44 73
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis; Ftdals 57
Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia; Alsftd 57
Frontotemporal Dementia and/or Motor Neuron Disease; Ftdmnd 57
Frontotemporal Dementia with Amyotrophic Lateral Sclerosis 59
Grn-Related Frontotemporal Dementia 73
Ftd-Als 59
Ftd-Mnd 59
Ftdals 57

Characteristics:

Orphanet epidemiological data:

59
frontotemporal dementia with motor neuron disease
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: adult;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
frontotemporal dementia and/or amyotrophic lateral sclerosis 1:
Onset and clinical course adult onset rapidly progressive
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

OMIM : 57 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 pick disease of brain, 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 (Chromosome 9 Open Reading Frame 72). Affiliated tissues include brain, temporal lobe and spinal cord, and related phenotypes are depressivity and dysarthria

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 : 75 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 78)
# Related Disease Score Top Affiliating Genes
1 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 34.1 MAPT GRN
2 pick disease of brain 31.9 TARDBP SQSTM1 PSEN1 MAPT GRN FUS
3 semantic dementia 31.8 TMEM106B TARDBP PSEN1 MAPT GRN CHMP2B
4 progressive non-fluent aphasia 31.3 VCP TMEM106B PSEN1 MAPT GRN CHMP2B
5 prosopagnosia 30.3 PSEN1 GRN
6 motor neuron disease 30.3 VCP TBK1 TARDBP SQSTM1 MAPT GRN
7 apraxia 30.0 PSEN1 MAPT GRN C9orf72
8 inclusion body myositis 30.0 VCP TARDBP SQSTM1 MAPT
9 lateral sclerosis 29.9 VCP UBQLN2 TBK1 TARDBP SQSTM1 FUS
10 aphasia 29.8 PSEN1 MAPT GRN CHMP2B C9orf72
11 supranuclear palsy, progressive, 1 29.8 TARDBP PSEN1 MAPT GRN CBS C9orf72
12 frontotemporal dementia 28.7 VCP UBQLN2 TMEM106B TBK1 TARDBP SQSTM1
13 dementia 28.7 VCP UBQLN2 TMEM106B TBK1 TARDBP SQSTM1
14 amyotrophic lateral sclerosis 1 28.2 WDR41 VCP UNC13A UBQLN2 TMEM106B TBK1
15 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 13.0
16 grn-related frontotemporal dementia 11.6
17 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 11.6
18 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 11.1
19 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 11.1
20 alzheimer disease 11.0
21 sarcoma 10.5
22 intermittent claudication 10.5
23 multiple system atrophy 1 10.3
24 neuronal ceroid lipofuscinosis 10.3
25 corticobasal degeneration 10.3
26 mills syndrome 10.3
27 frontotemporal dementia with parkinsonism-17 10.3
28 polyglucosan body neuropathy, adult form 10.2
29 cognitive function 1, social 10.2
30 aging 10.2
31 adult polyglucosan body disease 10.2
32 postpoliomyelitis syndrome 10.2 VCP TARDBP
33 pathological gambling 10.2
34 inclusion body myopathy with paget disease of bone and frontotemporal dementia 10.2 VCP TARDBP
35 amyotrophic lateral sclerosis type 6 10.2 TARDBP FUS
36 amyotrophic lateral sclerosis 18 10.2 TARDBP FUS C9orf72
37 brown-vialetto-van laere syndrome 10.2 UBQLN2 TARDBP C9orf72
38 progressive muscular atrophy 10.2 TARDBP C9orf72
39 perry syndrome 10.2 TARDBP GRN C9orf72
40 mutism 10.1 GRN CHMP2B
41 amyotrophic lateral sclerosis 21 10.1 VCP TARDBP FUS C9orf72
42 spinocerebellar ataxia 36 10.1 TARDBP ATXN2
43 alexia 10.1 TARDBP PSEN1
44 autoimmune disease 10.1
45 myositis 10.1
46 obsessive-compulsive disorder 10.1
47 parkinson disease, late-onset 10.1
48 schizophrenia 10.1
49 schizophrenia 1 10.1
50 anxiety 10.1

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
hallucinations
apraxia
parkinsonism
paraparesis
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

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

59 32 (show all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressivity 59 32 Frequent (79-30%) HP:0000716
2 dysarthria 59 32 Frequent (79-30%) HP:0001260
3 hallucinations 59 32 Frequent (79-30%) HP:0000738
4 apraxia 59 32 Frequent (79-30%) HP:0002186
5 parkinsonism 59 32 Frequent (79-30%) HP:0001300
6 apathy 59 32 Frequent (79-30%) HP:0000741
7 tetraparesis 59 32 Frequent (79-30%) HP:0002273
8 paraparesis 59 32 Frequent (79-30%) HP:0002385
9 frontotemporal dementia 59 32 Very frequent (99-80%) HP:0002145
10 supranuclear gaze palsy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000605
11 gliosis 59 32 Frequent (79-30%) HP:0002171
12 dyscalculia 59 32 Frequent (79-30%) HP:0002442
13 abnormal lower motor neuron morphology 59 32 Very frequent (99-80%) HP:0002366
14 ptosis 59 Very rare (<4-1%)
15 muscle weakness 32 HP:0001324
16 dysphagia 59 Frequent (79-30%)
17 behavioral abnormality 59 Frequent (79-30%)
18 skeletal muscle atrophy 32 HP:0003202
19 babinski sign 59 Occasional (29-5%)
20 amyotrophic lateral sclerosis 32 HP:0007354
21 fasciculations 59 Occasional (29-5%)
22 abnormality of extrapyramidal motor function 59 Frequent (79-30%)
23 progressive cerebellar ataxia 59 Frequent (79-30%)
24 hyporeflexia 59 Occasional (29-5%)
25 proximal muscle weakness 59 Frequent (79-30%)
26 degeneration of the lateral corticospinal tracts 59 Frequent (79-30%)
27 generalized amyotrophy 59 Frequent (79-30%)
28 distal muscle weakness 59 Frequent (79-30%)
29 cerebral atrophy 32 HP:0002059
30 disinhibition 59 Occasional (29-5%)
31 bulbar palsy 59 Occasional (29-5%)
32 delusions 32 HP:0000746
33 neuronal loss in central nervous system 32 HP:0002529
34 abnormal mitochondrial morphology 59 Occasional (29-5%)
35 abnormal upper motor neuron morphology 59 Very frequent (99-80%)
36 mutism 59 Occasional (29-5%)
37 bilateral sensorineural hearing impairment 59 Occasional (29-5%)
38 neuronal loss in the cerebral cortex 59 Frequent (79-30%)
39 weakness due to upper motor neuron dysfunction 59 Frequent (79-30%)
40 global brain atrophy 59 Occasional (29-5%)
41 perseveration 59 Occasional (29-5%)
42 extrapyramidal dyskinesia 32 HP:0007308

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


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

MGI Mouse Phenotypes related to Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.32 ATXN2 C9orf72 CHMP2B GRN MAPT PSEN1

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

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 29 C9orf72
2 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 29

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

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

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

Publications for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

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

# Title Authors Year
1
Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. ( 22366793 )
2012

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.819A> G (p.Pro273=) single nucleotide variant Conflicting interpretations of pathogenicity rs200388590 GRCh38 Chromosome 5, 179833096: 179833096
2 SQSTM1 NM_003900.4(SQSTM1): c.819A> G (p.Pro273=) single nucleotide variant Conflicting interpretations of pathogenicity rs200388590 GRCh37 Chromosome 5, 179260096: 179260096
3 SQSTM1 NM_003900.4(SQSTM1): c.955G> A (p.Glu319Lys) single nucleotide variant Benign/Likely benign rs61748794 GRCh37 Chromosome 5, 179260232: 179260232
4 SQSTM1 NM_003900.4(SQSTM1): c.955G> A (p.Glu319Lys) single nucleotide variant Benign/Likely benign rs61748794 GRCh38 Chromosome 5, 179833232: 179833232
5 SQSTM1 NM_003900.4(SQSTM1): c.204C> G (p.Arg68=) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 179821140: 179821140
6 SQSTM1 NM_003900.4(SQSTM1): c.204C> G (p.Arg68=) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 179248140: 179248140
7 SQSTM1 NM_003900.4(SQSTM1): c.46G> A (p.Ala16Thr) single nucleotide variant Uncertain significance rs773552098 GRCh37 Chromosome 5, 179247982: 179247982
8 SQSTM1 NM_003900.4(SQSTM1): c.46G> A (p.Ala16Thr) single nucleotide variant Uncertain significance rs773552098 GRCh38 Chromosome 5, 179820982: 179820982
9 C9orf72 NM_001256054.2(C9orf72): c.870C> T (p.Ser290=) single nucleotide variant Benign rs10122902 GRCh37 Chromosome 9, 27556780: 27556780
10 C9orf72 NM_001256054.2(C9orf72): c.870C> T (p.Ser290=) single nucleotide variant Benign rs10122902 GRCh38 Chromosome 9, 27556782: 27556782
11 SQSTM1 NM_003900.4(SQSTM1): c.612A> G (p.Gly204=) single nucleotide variant Conflicting interpretations of pathogenicity rs878982215 GRCh37 Chromosome 5, 179251262: 179251262
12 SQSTM1 NM_003900.4(SQSTM1): c.612A> G (p.Gly204=) single nucleotide variant Conflicting interpretations of pathogenicity rs878982215 GRCh38 Chromosome 5, 179824262: 179824262
13 SQSTM1 NM_003900.4(SQSTM1): c.1044G> A (p.Pro348=) single nucleotide variant Benign/Likely benign rs10058037 GRCh38 Chromosome 5, 179833661: 179833661
14 SQSTM1 NM_003900.4(SQSTM1): c.1044G> A (p.Pro348=) single nucleotide variant Benign/Likely benign rs10058037 GRCh37 Chromosome 5, 179260661: 179260661
15 SQSTM1 NM_003900.4(SQSTM1): c.961C> T (p.Arg321Cys) single nucleotide variant Benign/Likely benign rs140226523 GRCh38 Chromosome 5, 179833238: 179833238
16 SQSTM1 NM_003900.4(SQSTM1): c.961C> T (p.Arg321Cys) single nucleotide variant Benign/Likely benign rs140226523 GRCh37 Chromosome 5, 179260238: 179260238
17 SQSTM1 NM_003900.4(SQSTM1): c.954C> T (p.Ser318=) single nucleotide variant Benign/Likely benign rs56092424 GRCh38 Chromosome 5, 179833231: 179833231
18 SQSTM1 NM_003900.4(SQSTM1): c.954C> T (p.Ser318=) single nucleotide variant Benign/Likely benign rs56092424 GRCh37 Chromosome 5, 179260231: 179260231
19 SQSTM1 NM_003900.4(SQSTM1): c.924G> A (p.Ala308=) single nucleotide variant Likely benign rs139482113 GRCh38 Chromosome 5, 179833201: 179833201
20 SQSTM1 NM_003900.4(SQSTM1): c.924G> A (p.Ala308=) single nucleotide variant Likely benign rs139482113 GRCh37 Chromosome 5, 179260201: 179260201
21 SQSTM1 NM_003900.4(SQSTM1): c.822G> C (p.Glu274Asp) single nucleotide variant Benign/Likely benign rs55793208 GRCh38 Chromosome 5, 179833099: 179833099
22 SQSTM1 NM_003900.4(SQSTM1): c.822G> C (p.Glu274Asp) single nucleotide variant Benign/Likely benign rs55793208 GRCh37 Chromosome 5, 179260099: 179260099
23 SQSTM1 NM_001142298.1(SQSTM1): c.-47-1924C> T single nucleotide variant Likely benign rs200396166 GRCh37 Chromosome 5, 179248034: 179248034
24 SQSTM1 NM_001142298.1(SQSTM1): c.-47-1924C> T single nucleotide variant Likely benign rs200396166 GRCh38 Chromosome 5, 179821034: 179821034
25 SQSTM1 NM_003900.4(SQSTM1): c.714_716delGAA (p.Lys238del) deletion Uncertain significance rs796052214 GRCh37 Chromosome 5, 179252186: 179252188
26 SQSTM1 NM_003900.4(SQSTM1): c.714_716delGAA (p.Lys238del) deletion Uncertain significance rs796052214 GRCh38 Chromosome 5, 179825186: 179825188
27 C9orf72 NM_001256054.1(C9orf72): c.-45+163_-45+168GGGGCC[(24_?)] NT expansion Pathogenic rs71492753 GRCh38 Chromosome 9, 27573529: 27573534
28 C9orf72 NM_001256054.1(C9orf72): c.-45+163_-45+168GGGGCC[(24_?)] NT expansion Pathogenic rs71492753 GRCh37 Chromosome 9, 27573527: 27573532
29 SQSTM1 NM_003900.4(SQSTM1): c.970_1165del single nucleotide variant Pathogenic rs796051870 GRCh37 Chromosome 5, 179260783: 179260783
30 SQSTM1 NM_003900.4(SQSTM1): c.970_1165del single nucleotide variant Pathogenic rs796051870 GRCh38 Chromosome 5, 179833783: 179833783
31 SQSTM1 NM_003900.4(SQSTM1): c.1175C> T (p.Pro392Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs104893941 GRCh38 Chromosome 5, 179836445: 179836445
32 SQSTM1 NM_003900.4(SQSTM1): c.1175C> T (p.Pro392Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs104893941 GRCh37 Chromosome 5, 179263445: 179263445
33 SQSTM1 NM_003900.4(SQSTM1): c.1166-5G> A single nucleotide variant Uncertain significance rs765613974 GRCh38 Chromosome 5, 179836431: 179836431
34 SQSTM1 NM_003900.4(SQSTM1): c.1166-5G> A single nucleotide variant Uncertain significance rs765613974 GRCh37 Chromosome 5, 179263431: 179263431
35 SQSTM1 NM_003900.4(SQSTM1): c.352C> T (p.Pro118Ser) single nucleotide variant Uncertain significance rs200152247 GRCh38 Chromosome 5, 179823908: 179823908
36 SQSTM1 NM_003900.4(SQSTM1): c.352C> T (p.Pro118Ser) single nucleotide variant Uncertain significance rs200152247 GRCh37 Chromosome 5, 179250908: 179250908
37 SQSTM1 NM_003900.4(SQSTM1): c.763G> A (p.Val255Ile) single nucleotide variant Uncertain significance rs182522590 GRCh38 Chromosome 5, 179833040: 179833040
38 SQSTM1 NM_003900.4(SQSTM1): c.763G> A (p.Val255Ile) single nucleotide variant Uncertain significance rs182522590 GRCh37 Chromosome 5, 179260040: 179260040
39 SQSTM1 NM_003900.4(SQSTM1): c.457G> A (p.Val153Ile) single nucleotide variant Uncertain significance rs145056421 GRCh37 Chromosome 5, 179251013: 179251013
40 SQSTM1 NM_003900.4(SQSTM1): c.457G> A (p.Val153Ile) single nucleotide variant Uncertain significance rs145056421 GRCh38 Chromosome 5, 179824013: 179824013
41 SQSTM1 NM_003900.4(SQSTM1): c.106G> A (p.Glu36Lys) single nucleotide variant Uncertain significance rs376158712 GRCh38 Chromosome 5, 179821042: 179821042
42 SQSTM1 NM_003900.4(SQSTM1): c.106G> A (p.Glu36Lys) single nucleotide variant Uncertain significance rs376158712 GRCh37 Chromosome 5, 179248042: 179248042
43 SQSTM1 NM_003900.4(SQSTM1): c.683C> T (p.Pro228Leu) single nucleotide variant Uncertain significance rs151191977 GRCh38 Chromosome 5, 179825155: 179825155
44 SQSTM1 NM_003900.4(SQSTM1): c.683C> T (p.Pro228Leu) single nucleotide variant Uncertain significance rs151191977 GRCh37 Chromosome 5, 179252155: 179252155
45 SQSTM1 NM_003900.4(SQSTM1): c.1242C> A (p.Thr414=) single nucleotide variant Likely benign GRCh38 Chromosome 5, 179836512: 179836512
46 SQSTM1 NM_003900.4(SQSTM1): c.1242C> A (p.Thr414=) single nucleotide variant Likely benign GRCh37 Chromosome 5, 179263512: 179263512
47 SQSTM1 NM_003900.4(SQSTM1): c.1088G> A (p.Gly363Glu) single nucleotide variant Likely benign rs375495050 GRCh38 Chromosome 5, 179833705: 179833705
48 SQSTM1 NM_003900.4(SQSTM1): c.1088G> A (p.Gly363Glu) single nucleotide variant Likely benign rs375495050 GRCh37 Chromosome 5, 179260705: 179260705
49 SQSTM1 NM_003900.4(SQSTM1): c.906C> T (p.Gly302=) single nucleotide variant Benign rs11548642 GRCh38 Chromosome 5, 179833183: 179833183
50 SQSTM1 NM_003900.4(SQSTM1): c.906C> T (p.Gly302=) single nucleotide variant Benign rs11548642 GRCh37 Chromosome 5, 179260183: 179260183

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

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:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 endosome GO:0005768 9.89 C9orf72 CHMP2B GRN SQSTM1 TMEM106B
2 axon GO:0030424 9.83 C9orf72 MAPT PSEN1 UNC13A
3 growth cone GO:0030426 9.69 C9orf72 MAPT PSEN1
4 neuron projection GO:0043005 9.65 C9orf72 MAPT PSEN1 RAB39B UNC13A
5 cytoplasmic vesicle GO:0031410 9.63 C9orf72 IFT74 PSEN1 RAB39B SQSTM1 UBQLN2
6 autophagosome GO:0005776 9.61 C9orf72 SQSTM1 UBQLN2
7 cytoplasmic stress granule GO:0010494 9.54 ATXN2 C9orf72 VCP
8 guanyl-nucleotide exchange factor complex GO:0032045 9.46 C9orf72 WDR41
9 Atg1/ULK1 kinase complex GO:1990316 9.4 C9orf72 WDR41
10 lysosome GO:0005764 9.35 C9orf72 CHMP2B GRN SQSTM1 TMEM106B
11 main axon GO:0044304 9.32 C9orf72 MAPT
12 aggresome GO:0016235 8.8 PSEN1 SQSTM1 TBK1
13 cytoplasm GO:0005737 10.32 ATXN2 C9orf72 CBS CHMP2B FUS MAPT

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 macroautophagy GO:0016236 9.61 CHMP2B SQSTM1 VCP
2 negative regulation of protein phosphorylation GO:0001933 9.5 C9orf72 PSEN1 TARDBP
3 T cell activation involved in immune response GO:0002286 9.48 IFNK PSEN1
4 amyloid-beta metabolic process GO:0050435 9.46 PSEN1 UNC13A
5 regulation of autophagy GO:0010506 9.46 C9orf72 MAPT RAB39B WDR41
6 synapse organization GO:0050808 9.43 MAPT PSEN1 RAB39B
7 regulation of autophagosome assembly GO:2000785 9.4 C9orf72 UBQLN2
8 astrocyte activation GO:0048143 9.37 MAPT PSEN1
9 autophagy GO:0006914 9.23 C9orf72 CHMP2B PSEN1 RAB39B SQSTM1 UBQLN2
10 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 protein binding GO:0005515 9.58 ATXN2 C9orf72 CBS CHCHD10 CHMP2B FUS
2 identical protein binding GO:0042802 9.5 CBS FUS MAPT SQSTM1 TARDBP TBK1
3 myosin V binding GO:0031489 9.16 FUS RAB39B

Sources for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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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