PPA
MCID: PRM052
MIFTS: 42

Primary Progressive Aphasia (PPA) malady

Neuronal diseases category

Summaries for Primary Progressive Aphasia

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Sources:
42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 Primary progressive aphasia (ppa) is a type of dementia characterized by language disturbance, including difficulty making or understanding speech (aphasia). ppa can be part of frontotemporal dementia or alzheimer disease. spatial skills and memory usually remain intact. in early stages, ppa often manifests as deficits in naming, word finding, or word comprehension. in late stages, affected individuals often become mute and lose their ability to communicate. in some cases, ppa is inherited in an autosomal dominant fashion and caused by mutations in the grn gene.ppa can be classified into three distinct variants based on language profiles, which include progressive non-fluent aphasia (pnfa), semantic dementia (sd), and the recently characterized logopenic variant (lpa). last updated: 8/22/2011

MalaCards: Primary Progressive Aphasia, also known as aphasia, primary progressive, is related to aphasia and dementia. An important gene associated with Primary Progressive Aphasia is GRN (granulin), and among its related pathways are Glypican 1 network and A-beta Uptake & Degradation. The compounds thioflavin and memantine have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotypes are other and hematopoietic system.

NINDS:43 Frontotemporal dementia (FTD) describes a clinical syndrome associated with shrinking of the frontal and temporal anterior lobes of the brain. Originally known as Pick?s disease, the name and classification of FTD has been a topic of discussion for over a century.

Wikipedia:63 Primary progressive aphasia (PPA) is characterized by progressive language and speech disorders. It was... more...

Description from OMIM:46 607485

Aliases & Classifications for Primary Progressive Aphasia

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Sources:
42NIH Rare Diseases, 43NINDS, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
primary progressive aphasia:
Inheritance: Multigenic/multifactorial,Sporadic; Age of onset: Adulthood


Aliases & Descriptions:

primary progressive aphasia 42 43 48 60
aphasia, primary progressive 42 46
ppa 42 48
primary progressive aphasia syndrome 42
aphasia primary progressive 44
mesulam syndrome 48


External Ids:

MESH via Orphanet35 D018888
ICD10 via Orphanet26 G31.0
UMLS via Orphanet61 C0282513

Related Diseases for Primary Progressive Aphasia

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Primary Progressive Aphasia family:

Aphasia

Diseases related to Primary Progressive Aphasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 71)
idRelated DiseaseScoreTop Affiliating Genes
1aphasia31.9TARDBP, MAPT, GRN
2dementia31.1APP, APOE, APOC1, PRNP, GRN, MAPT
3frontotemporal dementia31.0APP, APOE, GRN, MAPT, TARDBP, LRRK2
4alzheimer's disease30.8APP, APOE, APOC1, TOMM40, PRNP, GRN
5apraxia30.7MAPT, FOXP2
6semantic dementia30.5GRN, MAPT
7frontotemporal lobar degeneration with ubiquitin-positive inclusions30.4GRN
8progressive supranuclear palsy30.4APOE, GRN, MAPT, TARDBP
9pick's disease30.4APP, APOE, MAPT, TARDBP
10tauopathy30.3APP, GRN, MAPT, LRRK2
11amyloidosis29.9APP, APOE, PRNP, MAPT
12logopenic progressive aphasia10.4
13cerebritis10.3
14transient global amnesia10.2
15neuronitis10.2
16dysgraphia10.2
17agnosia10.2
18progressive non-fluent aphasia10.2
19ideomotor apraxia10.1
20learning disability10.1
21reading disorder10.1
22lateral sclerosis10.0TARDBP
23genetic prion diseases10.0PRNP
24wilson disease10.0PRNP
25neuroblastoma10.0PRNP
26lrrk2-related parkinson disease10.0LRRK2
27hereditary cerebral amyloid angiopathy10.0APP
28encephalitis10.0APP
29hydrocephalus10.0MAPT
30schizophrenia10.0FOXP2
31speech and communication disorders10.0FOXP2
32scrapie10.0MAPT, PRNP
33myopathy10.0APP, PRNP
34vascular dementia10.0APOE
35gerstmann-straussler-scheinker disease10.0APP, PRNP
36multiple sclerosis10.0APOE
37parkinson disease type 310.0LRRK2, MAPT
38inclusion body myositis10.0MAPT, APP
39niemann-pick disease10.0APP, MAPT
40motor neuron disease10.0TARDBP, MAPT, GRN
41spinocerebellar ataxia10.0MAPT, PRNP
42multiple system atrophy10.0PRNP, MAPT, LRRK2
43ischemia10.0MAPT, FOXP2
44myositis10.0MAPT, PRNP, APP
45familial creutzfeldt-jakob disease10.0PRNP, APOE
46movement disease10.0LRRK2, MAPT
47brain disease10.0APP, PRNP, MAPT
48huntington's disease10.0APP, PRNP, MAPT
49binswanger's disease10.0APP, APOE
50stroke, hemorrhagic10.0APP, APOE

Graphical network of the top 20 diseases related to Primary Progressive Aphasia:



Diseases related to primary progressive aphasia

Clinical Features for Primary Progressive Aphasia

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Sources:
46OMIM
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Clinical features from OMIM:

607485

Drugs & Therapeutics for Primary Progressive Aphasia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Primary Progressive Aphasia

Drug clinical trials:

Search ClinicalTrials for Primary Progressive Aphasia

Search NIH Clinical Center for Primary Progressive Aphasia

Search CenterWatch for Primary Progressive Aphasia

Genetic Tests for Primary Progressive Aphasia

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Anatomical Context for Primary Progressive Aphasia

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Sources:
32MalaCards
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MalaCards organs/tissues related to Primary Progressive Aphasia:

32
Brain

Animal Models for Primary Progressive Aphasia or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Primary Progressive Aphasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053958.6APP, APOE, PRNP, MAPT
2MP:00053977.7LRRK2, MAPT, GRN, PRNP, FOXP2, APOE
3MP:00053697.6APP, APOE, FOXP2, PRNP, MAPT
4MP:00053877.3APP, APOE, FOXP2, PRNP, GRN, MAPT
5MP:00036317.2APP, APOE, FOXP2, PRNP, GRN, MAPT
6MP:00030127.1LRRK2, APP, APOE, FOXP2, PRNP, GRN
7MP:00053867.1APP, APOE, FOXP2, PRNP, GRN, MAPT
8MP:00053847.1APP, APOE, FOXP2, PRNP, GRN, MAPT
9MP:00107687.0APP, APOE, FOXP2, PRNP, GRN, MAPT
10MP:00053766.9APP, APOE, APOC1, FOXP2, PRNP, GRN

Publications for Primary Progressive Aphasia

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Genetic Variations for Primary Progressive Aphasia

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Primary Progressive Aphasia:

62
id Symbol AA change Variation ID SNP ID
1GRNp.Ala9AspVAR_044451

Expression for genes affiliated with Primary Progressive Aphasia

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Primary Progressive Aphasia

Search GEO for disease gene expression data for Primary Progressive Aphasia.

Pathways for genes affiliated with Primary Progressive Aphasia

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Sources:
37NCBI BioSystems Database, 52R&D Systems, 49PharmGKB, 51QIAGEN, 53Reactome, 29KEGG, 4Cell Signaling Technology
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Compounds for genes affiliated with Primary Progressive Aphasia

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 2BitterDB
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Compounds related to Primary Progressive Aphasia according to GeneCards/GeneDecks:

(show all 37)
idCompoundScoreTop Affiliating Genes
1thioflavin4410.0MAPT, APP
2memantine44 28 1111.9MAPT, APP
3tmao449.8MAPT, APOC1
4metrifonate449.6APOE, APP
524s-hydroxy-cholesterol449.5APP, APOE
6thioflavin t449.5APP, APOE
7formaldehyde44 2410.5MAPT, PRNP, APP
8guanidine44 11 2411.3MAPT, PRNP, APOE
9dimyristoylphosphatidylcholine449.2APOC1, APOE
10thioflavine s449.2APP, APOE, MAPT
11tacrine44 1110.2APP, APOE, MAPT
12donepezil44 11 2411.2MAPT, APOE, APP
13galantamine44 49 1111.2APP, APOE, MAPT
144-hydroxynonenal44 2410.1MAPT, APOE, APP
15chloroquine44 2 49 28 1113.1APP, APOE, MAPT
16lactacystin449.1MAPT, APOE, APP
17spec-t448.9MAPT, APOE
18folate448.9APP, APOE, MAPT
19antivirals for treatment of hiv infections, combinations498.9TOMM40, APOC1, APOE
20nicotine44 49 28 1111.9MAPT, APOE, APP
21ritonavir44 49 1110.9APOE, APOC1, TOMM40
22formate448.9MAPT, PRNP, APOE, APP
23valine448.9APP, APOE, PRNP, MAPT
24nmda44 289.8MAPT, APOE, APP
25aspartate448.7APP, APOE, PRNP, MAPT
26heparin44 28 11 2411.7APP, APOE, PRNP, MAPT
27dopamine44 28 11 2411.7LRRK2, MAPT, APOE, APP
28glutamine448.6MAPT, FOXP2, APOE, APP
29h2o2448.5APP, APOE, PRNP, MAPT
30vegf448.4GRN, FOXP2, APOE, APP
31arginine448.4APP, APOE, PRNP, MAPT
32glutamate448.3APP, APOE, FOXP2, PRNP, MAPT
33sodium dodecylsulfate448.3MAPT, PRNP, APOC1, APOE, APP
34cholesterol44 28 11 2411.1APP, APOE, APOC1, TOMM40, PRNP
35estrogen448.1APOE, APOC1, FOXP2, GRN, MAPT
36lipid447.7LRRK2, PRNP, TOMM40, APOC1, APOE, APP
37alanine447.7APP, APOE, APOC1, FOXP2, PRNP, MAPT

GO Terms for genes affiliated with Primary Progressive Aphasia

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Sources:
16Gene Ontology
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Cellular components related to Primary Progressive Aphasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1high-density lipoprotein particleGO:0343649.0APOC1, APOE
2chylomicronGO:0426278.9APOC1, APOE
3very-low-density lipoprotein particleGO:0343618.7APOC1, APOE

Biological processes related to Primary Progressive Aphasia according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1cellular copper ion homeostasisGO:0068789.8PRNP, APP
2axon cargo transportGO:0080889.8APP, MAPT
3response to oxidative stressGO:0069799.5LRRK2, PRNP, APP
4very-low-density lipoprotein particle clearanceGO:0344479.3APOC1, APOE
5positive regulation of axon extensionGO:0457739.3MAPT, APOE
6chylomicron remnant clearanceGO:0343829.3APOC1, APOE
7positive regulation of cholesterol esterificationGO:0108739.3APOE, APOC1
8phospholipid effluxGO:0337009.2APOE, APOC1
9high-density lipoprotein particle remodelingGO:0343759.1APOC1, APOE
10lipoprotein metabolic processGO:0421579.0APOC1, APOE
11cell deathGO:0082199.0APOE, GRN, TARDBP
12cholesterol effluxGO:0333448.9APOC1, APOE
13cholesterol metabolic processGO:0082038.8APOC1, APOE, APP
14triglyceride metabolic processGO:0066418.7APOC1, APOE

Molecular functions related to Primary Progressive Aphasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1tubulin bindingGO:0156319.8LRRK2, PRNP
2lipoprotein particle bindingGO:0718139.1APOE, MAPT
3phosphatidylcholine-sterol O-acyltransferase activator activityGO:0602288.7APOE, APOC1
4identical protein bindingGO:0428028.2LRRK2, TARDBP, PRNP, APOE, APP

Products for genes affiliated with Primary Progressive Aphasia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Primary Progressive Aphasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet