MCID: AMY006
MIFTS: 36

Amyotrophic Lateral Sclerosis with Frontotemporal Dementia malady

Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases categories
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Summaries for Amyotrophic Lateral Sclerosis with Frontotemporal Dementia

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Sources:
47OMIM, 33MalaCards
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MalaCards: Amyotrophic Lateral Sclerosis with Frontotemporal Dementia, also known as amyotrophic lateral sclerosis and/or frontotemporal dementia 1, is related to lateral sclerosis and dementia. An important gene associated with Amyotrophic Lateral Sclerosis with Frontotemporal Dementia is C9orf72 (chromosome 9 open reading frame 72), and among its related pathways is Neuroscience. Related mouse phenotype no phenotypic analysis.

Description from OMIM:47 105550,608030,612069,615911

Aliases & Classifications for Amyotrophic Lateral Sclerosis with Frontotemporal Dementia

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Sources:
20GeneTests, 22GTR, 47OMIM, 49Orphanet, 62UMLS, 59SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Mental diseases


Characteristics (Orphanet epidemiological data):

49
frontotemporal dementia with amyotrophic lateral sclerosis:
Inheritance: Autosomal dominant; Age of onset: Adulthood; Age of death: Adult


Aliases & Descriptions:

amyotrophic lateral sclerosis with frontotemporal dementia 20 22
amyotrophic lateral sclerosis and/or frontotemporal dementia 1 62
amyotrophic lateral sclerosis and/or frontotemporal dementia 47
frontotemporal dementia with amyotrophic lateral sclerosis 49
frontotemporal dementia with motor neuron disease 49
frontotemporal dementia 62
ftd-mnd 49
ftd-als 49


External Ids:

SNOMED-CT via Orphanet59 230258005

Related Diseases for Amyotrophic Lateral Sclerosis with Frontotemporal Dementia

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Amyotrophic Lateral Sclerosis with Frontotemporal Dementia:



Diseases related to amyotrophic lateral sclerosis with frontotemporal dementia

Symptoms for Amyotrophic Lateral Sclerosis with Frontotemporal Dementia

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47OMIM
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Symptoms by clinical synopsis from OMIM:

105550

Clinical features from OMIM:

105550,608030,612069,615911

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis with Frontotemporal Dementia

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Amyotrophic Lateral Sclerosis with Frontotemporal Dementia

Search NIH Clinical Center for Amyotrophic Lateral Sclerosis with Frontotemporal Dementia

Genetic Tests for Amyotrophic Lateral Sclerosis with Frontotemporal Dementia

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20GeneTests, 22GTR
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Genetic tests related to Amyotrophic Lateral Sclerosis with Frontotemporal Dementia:

id Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis with Frontotemporal Dementia20
2 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis22

Anatomical Context for Amyotrophic Lateral Sclerosis with Frontotemporal Dementia

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Animal Models for Amyotrophic Lateral Sclerosis with Frontotemporal Dementia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis with Frontotemporal Dementia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.7TARDBP, C9orf72, FUS

Publications for Amyotrophic Lateral Sclerosis with Frontotemporal Dementia

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52PubMed
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Articles related to Amyotrophic Lateral Sclerosis with Frontotemporal Dementia:

idTitleAuthorsYear
1
Longitudinal cortical atrophy in amyotrophic lateral sclerosis with frontotemporal dementia. (19139315)
2009
2
Distinctions between the dementia in amyotrophic lateral sclerosis with frontotemporal dementia and the dementia of Alzheimer's disease. (17917849)
2007
3
Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3. (16495328)
2006
4
Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22. (11015796)
2000

Variations for Amyotrophic Lateral Sclerosis with Frontotemporal Dementia

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Amyotrophic Lateral Sclerosis with Frontotemporal Dementia:

1 (show all 15)
id Gene Name Type Significance SNP ID Assembly Location
1MAPTNM_016835.4(MAPT): c.1853C> T (p.Pro618Leu)single nucleotide variantPathogenicrs63751273GRCh37Chr 17, 44087755: 44087755
2MAPTNM_016835.4(MAPT): c.1766G> T (p.Gly589Val)single nucleotide variantPathogenicrs63750376GRCh37Chr 17, 44074023: 44074023
3MAPTNM_016835.4(MAPT): c.2167C> T (p.Arg723Trp)single nucleotide variantPathogenicrs63750424GRCh37Chr 17, 44101427: 44101427
4MAPTNM_016835.4(MAPT): c.1866+14C> Tsingle nucleotide variantPathogenicrs63750972GRCh37Chr 17, 44087782: 44087782
5MAPTNM_016835.4(MAPT): c.1960G> A (p.Val654Met)single nucleotide variantPathogenicrs63750570GRCh37Chr 17, 44095995: 44095995
6MAPTNM_016835.4(MAPT): c.1788T> G (p.Asn596Lys)single nucleotide variantPathogenicrs63750756GRCh37Chr 17, 44087690: 44087690
7MAPTNM_016835.4(MAPT): c.1865G> A (p.Ser622Asn)single nucleotide variantPathogenicrs63751165GRCh37Chr 17, 44087767: 44087767
8MAPTNM_016835.4(MAPT): c.1852C> T (p.Pro618Ser)single nucleotide variantPathogenicrs63751438GRCh37Chr 17, 44087754: 44087754
9MAPTNM_016835.4(MAPT): c.1839T> C (p.Asn613=)single nucleotide variantPathogenicrs63750912GRCh37Chr 17, 44087741: 44087741
10MAPTNM_016835.4(MAPT): c.1976A> T (p.Glu659Val)single nucleotide variantPathogenicrs63750711GRCh37Chr 17, 44096011: 44096011
11MAPTNM_016835.4(MAPT): c.14G> A (p.Arg5His)single nucleotide variantPathogenicrs63750959GRCh37Chr 17, 44039717: 44039717
12MAPTNM_016835.4(MAPT): c.1747C> G (p.Leu583Val)single nucleotide variantPathogenicrs63750349GRCh37Chr 17, 44074004: 44074004
13MAPTNM_016835.4(MAPT): c.1901A> T (p.Lys634Met)single nucleotide variantPathogenicrs63750092GRCh37Chr 17, 44091643: 44091643
14PSEN1NM_000021.3(PSEN1): c.338T> C (p.Leu113Pro)single nucleotide variantPathogenicrs63751399GRCh37Chr 14, 73637755: 73637755
15C9orf72NM_001256054.1: c.-45+163_-40+180GGGGCC(24_?)NT expansionPathogenic

Expression for genes affiliated with Amyotrophic Lateral Sclerosis with Frontotemporal Dementia

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Amyotrophic Lateral Sclerosis with Frontotemporal Dementia

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis with Frontotemporal Dementia.

Pathways for genes affiliated with Amyotrophic Lateral Sclerosis with Frontotemporal Dementia

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50PathCards, 5Cell Signaling Technology
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Pathways related to Amyotrophic Lateral Sclerosis with Frontotemporal Dementia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4TARDBP, SOD1

Compounds for genes affiliated with Amyotrophic Lateral Sclerosis with Frontotemporal Dementia

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GO Terms for genes affiliated with Amyotrophic Lateral Sclerosis with Frontotemporal Dementia

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Sources:
16Gene Ontology
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Biological processes related to Amyotrophic Lateral Sclerosis with Frontotemporal Dementia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA splicingGO:0083809.1TARDBP, FUS
2cell deathGO:0082198.4TARDBP, C9orf72, FUS

Molecular functions related to Amyotrophic Lateral Sclerosis with Frontotemporal Dementia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:0428028.6TARDBP, SOD1, FUS

Products for genes affiliated with Amyotrophic Lateral Sclerosis with Frontotemporal Dementia

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  • Antibodies
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Sources for Amyotrophic Lateral Sclerosis with Frontotemporal Dementia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet