MCID: AMY006
MIFTS: 36

Amyotrophic Lateral Sclerosis with Frontotemporal Dementia malady

Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases categories

Summaries for Amyotrophic Lateral Sclerosis with Frontotemporal Dementia

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48OMIM, 34MalaCards
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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:48 105550,608030,612069,615911

Aliases & Classifications for Amyotrophic Lateral Sclerosis with Frontotemporal Dementia

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21GeneTests, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 60SNOMED-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):

50
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 21 23
amyotrophic lateral sclerosis and/or frontotemporal dementia 1 63
amyotrophic lateral sclerosis and/or frontotemporal dementia 48
frontotemporal dementia with amyotrophic lateral sclerosis 50
frontotemporal dementia with motor neuron disease 50
frontotemporal dementia 63
ftd-mnd 50
ftd-als 50


External Ids:

SNOMED-CT via Orphanet60 230258005

Related Diseases for Amyotrophic Lateral Sclerosis with Frontotemporal Dementia

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18GeneCards, 19GeneDecks
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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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48OMIM
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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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Amyotrophic Lateral Sclerosis with Frontotemporal Dementia

Drug clinical trials:

Search ClinicalTrials for Amyotrophic Lateral Sclerosis with Frontotemporal Dementia

Search NIH Clinical Center for Amyotrophic Lateral Sclerosis with Frontotemporal Dementia

Search CenterWatch for Amyotrophic Lateral Sclerosis with Frontotemporal Dementia

Genetic Tests for Amyotrophic Lateral Sclerosis with Frontotemporal Dementia

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21GeneTests, 23GTR
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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 Dementia21
2 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis23

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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38MGI
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MGI Mouse Phenotypes related to Amyotrophic Lateral Sclerosis with Frontotemporal Dementia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.7TARDBP, C9orf72, FUS

Publications for Amyotrophic Lateral Sclerosis with Frontotemporal Dementia

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53PubMed
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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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2BioGPS, 16Gene 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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51PathCards, 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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17Gene 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
  • Proteins
  • Lysates
  • Antibodies

Sources for Amyotrophic Lateral Sclerosis with Frontotemporal Dementia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet