MCID: FRN044
MIFTS: 43

Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental 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 54 12 24 71
Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia 12 71 13
Ftdals1 12 71 14
Alsftd 12 24 71
Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia 1 29 69
Frontotemporal Dementia and/or Motor Neuron Disease 12 71
Frontotemporal Dementia with Motor Neuron Disease 56 69
Frontotemporal Lobar Degeneration 42 69
Ftdmnd 12 71
Frontotemporal Dementia with Amyotrophic Lateral Sclerosis 56
Grn-Related Frontotemporal Dementia 69
Ftd-Als 56
Ftd-Mnd 56

Characteristics:

Orphanet epidemiological data:

56
frontotemporal dementia with motor neuron disease
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: adult;

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:

Orphanet: 56  
Rare neurological diseases


Summaries for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

OMIM : 54
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 ubiquitin-positive inclusions and dementia, frontotemporal, and has symptoms including dysarthria, cerebral atrophy and delusions. 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.

UniProtKB/Swiss-Prot : 71 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.

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.

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 3 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia
Ubqln2-Related Amyotrophic Lateral Sclerosis/frontotemporal Dementia Vcp-Related Amyotrophic Lateral Sclerosis/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 51)
id Related Disease Score Top Affiliating Genes
1 frontotemporal lobar degeneration with ubiquitin-positive inclusions 12.3
2 dementia, frontotemporal 11.1
3 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 10.8
4 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 10.8
5 meninges hemangiopericytoma 10.7 TARDBP VCP
6 seow najjar syndrome 10.6 GRN TARDBP
7 tremor, hereditary essential, 4 10.6 FUS TARDBP
8 syndromic intellectual disability 10.5 SQSTM1 TARDBP VCP
9 retinitis pigmentosa 13 10.5 C9orf72 FUS TARDBP
10 arthrogryposis, lethal, with anterior horn cell disease 10.5 FUS TARDBP
11 fetal alcohol spectrum disorder 10.5 C9orf72 TARDBP UBQLN2
12 ceroid lipofuscinosis, neuronal, 11 10.4 GRN SQSTM1 TARDBP
13 perry syndrome 10.4 C9orf72 GRN TARDBP
14 motor neuron disease 10.4
15 dementia 10.4
16 neuronitis 10.4
17 allergic bronchopulmonary aspergillosis, familial 10.4 SQSTM1 TARDBP VCP
18 yunis-varon syndrome 10.4 FUS TARDBP
19 neuromyotonia and axonal neuropathy, autosomal recessive 10.3 C9orf72 FUS TARDBP VCP
20 hyperglycemia 10.3 CHMP2B GRN
21 cogan syndrome 10.2 FUS TARDBP UBQLN2 VCP
22 spinal cord oligodendroglioma 10.1 C9orf72 TARDBP
23 hypogonadotropic hypogonadism 3 with or without anosmia 10.0 ATXN2 TARDBP
24 extraosseous ewings sarcoma-primitive neuroepithelial tumor 10.0 GRN PSEN1
25 urethritis 10.0 PSEN1 TARDBP
26 lateral sclerosis 10.0
27 autoimmune disease of urogenital tract 10.0 GRN PSEN1
28 cerebral arteritis 9.9 FUS PSEN1 TARDBP
29 simultanagnosia 9.9 GRN PSEN1 TARDBP
30 autotopagnosia 9.9 GRN PSEN1 TARDBP
31 cardiomyopathy, dilated, 1u 9.8 PSEN1 SQSTM1 TARDBP
32 parkinson disease 1 9.8 GRN PSEN1 TARDBP
33 hepatic angiomyolipoma 9.7 C9orf72 PSEN1 TARDBP
34 diffuse alopecia areata 9.6 GRN PSEN1
35 akinetic mutism 9.5 CBS GRN PSEN1
36 glucose metabolism disease 9.5 CBS GRN PSEN1
37 nosophobia 9.5 C9orf72 CHMP2B GRN PSEN1
38 prostate carcinoma in situ 9.4 C9orf72 FUS GRN PSEN1 TARDBP
39 3mc syndrome 9.4 CBS GRN PSEN1 TARDBP
40 mucopolysaccharidosis iii 9.2 C9orf72 CHCHD10 FUS GRN SQSTM1 TARDBP
41 tendinopathy 9.2 C9orf72 CBS GRN PSEN1 TARDBP
42 propriospinal myoclonus 9.1 C9orf72 CHMP2B GRN PSEN1 TMEM106B VCP
43 submandibular adenitis 9.1 CBS FUS GRN PSEN1 TARDBP
44 isolated focal cortical dysplasia type ic 8.9 C9orf72 CHMP2B GRN PSEN1 SQSTM1 TMEM106B
45 stereotypic movement disorder 8.1 ATXN2 C9orf72 CHCHD10 CHMP2B FUS SQSTM1
46 mesenchymal chondrosarcoma 8.0 C9orf72 CBS CHMP2B FUS GRN PSEN1
47 eumycotic mycetoma 7.7 C9orf72 CHCHD10 CHMP2B FUS GRN PSEN1
48 progressive bulbar palsy 7.5 C9orf72 CBS CHCHD10 CHMP2B FUS GRN
49 long qt syndrome 5 6.4 ATXN2 C9orf72 CHCHD10 CHMP2B FUS GRN
50 pick disease 6.0 ATXN2 C9orf72 CBS CHCHD10 CHMP2B FUS

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:

54

Neurologic- Central Nervous System:
dysarthria
delusions
parkinsonism
hallucinations
gliosis
more
Neurologic- Behavioral Psychiatric Manifestations:
depression
executive dysfunction
apathy
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:

32 (show all 20)
id Description HPO Frequency HPO Source Accession
1 dysarthria 32 HP:0001260
2 cerebral atrophy 32 HP:0002059
3 delusions 32 HP:0000746
4 muscle weakness 32 HP:0001324
5 parkinsonism 32 HP:0001300
6 depression 32 HP:0000716
7 hallucinations 32 HP:0000738
8 apathy 32 HP:0000741
9 tetraparesis 32 HP:0002273
10 supranuclear gaze palsy 32 occasional (7.5%) HP:0000605
11 gliosis 32 HP:0002171
12 paraparesis 32 HP:0002385
13 apraxia 32 HP:0002186
14 frontotemporal dementia 32 HP:0002145
15 dyscalculia 32 HP:0002442
16 amyotrophic lateral sclerosis 32 HP:0007354
17 extrapyramidal dyskinesia 32 HP:0007308
18 skeletal muscle atrophy 32 HP:0003202
19 neuronal loss in central nervous system 32 HP:0002529
20 abnormal lower motor neuron morphology 32 HP:0002366

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


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

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

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 F 18 T807 Tau PET Imaging in Familial Amyotrophic Lateral Sclerosis Recruiting NCT02414230 Phase 2 Drug: F 18 T807
2 Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Terminated NCT00159198 Phase 1
3 Genetics of Familial and Sporadic ALS Recruiting NCT00821132
4 Genetic Study of Familial and Sporadic ALS/Motor Neuron Disease, Miyoshi Myopathy and Other Neuromuscular Disorders Recruiting NCT01459302
5 Phenotype, Genotype & Biomarkers in ALS and Related Disorders Recruiting NCT02327845
6 Advancing Research and Treatment for Frontotemporal Lobar Degeneration (ARTFL) Recruiting NCT02365922

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:

id Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia 1 29
2 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 24

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

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

39
Brain, Temporal Lobe, Spinal Cord, Skeletal Muscle

Publications for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

Variations for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 C9orf72 NM_001256054.1(C9orf72): c.-45+163_-45+168GGGGCC[(24_?)] NT expansion Pathogenic GRCh37 Chromosome 9, 27573527: 27573532
2 C9orf72 NG_031977.1: g.5321_5326GGGGCC(60_?) NT expansion Pathogenic GRCh38 Chromosome 9, 27573529: 27573534

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:

id Name GO ID Score Top Affiliating Genes
1 endosome GO:0005768 9.65 C9orf72 CHMP2B GRN SQSTM1 TMEM106B
2 cytoplasmic vesicle GO:0031410 9.35 C9orf72 IFT74 PSEN1 SQSTM1 UBQLN2
3 autophagosome GO:0005776 9.33 C9orf72 SQSTM1 UBQLN2
4 lysosome GO:0005764 9.02 C9orf72 CHMP2B GRN SQSTM1 TMEM106B

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of macroautophagy GO:0016239 9.37 C9orf72 TBK1
2 regulation of synaptic transmission, glutamatergic GO:0051966 9.32 PSEN1 UNC13A
3 T cell activation involved in immune response GO:0002286 9.26 IFNK PSEN1
4 autophagy GO:0006914 9.17 C9orf72 CHMP2B PSEN1 RAB39B SQSTM1 UBQLN2
5 macroautophagy GO:0016236 9.16 CHMP2B SQSTM1
6 beta-amyloid metabolic process GO:0050435 8.96 PSEN1 UNC13A

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

id Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.02 CBS FUS SQSTM1 TARDBP VCP
2 myosin V binding GO:0031489 8.96 FUS RAB39B
3 ionotropic glutamate receptor binding GO:0035255 8.85 FUS
4 protein binding GO:0005515 10.1 ATXN2 C9orf72 CBS CHMP2B FUS GRN

Sources for Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....