PPA
MCID: PRM052
MIFTS: 55

Primary Progressive Aphasia (PPA) malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases categories

Summaries for Primary Progressive Aphasia

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44NIH Rare Diseases, 45NINDS, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 semantic dementia. An important gene associated with Primary Progressive Aphasia is GRN (granulin), and among its related pathways are Statin Pathway and Glypican 1 network. The compounds dimyristoylphosphatidylcholine and metrifonate have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and cortex, and related mouse phenotypes are pigmentation and other.

NINDS:45 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:66 Primary progressive aphasia (PPA) is characterized by progressive language and speech disorders. It was... more...

Description from OMIM:48 607485

Aliases & Classifications for Primary Progressive Aphasia

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44NIH Rare Diseases, 45NINDS, 50Orphanet, 63UMLS, 48OMIM, 46Novoseek, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
primary progressive aphasia:
Inheritance: Multigenic/multifactorial,Sporadic; Age of onset: Adulthood


Aliases & Descriptions:

primary progressive aphasia 44 45 50 63
aphasia, primary progressive 44 48
ppa 44 50
primary progressive aphasia syndrome 44
aphasia primary progressive 46
mesulam syndrome 50


External Ids:

MESH via Orphanet37 D018888
ICD10 via Orphanet27 G31.0
UMLS via Orphanet64 C0282513

Related Diseases for Primary Progressive Aphasia

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18GeneCards, 19GeneDecks
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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 65)
idRelated DiseaseScoreTop Affiliating Genes
1aphasia32.0MAPT, GRN, TARDBP
2semantic dementia30.9GRN, MAPT
3dementia30.9TARDBP, LRRK2, GRN, MAPT, PRNP, APP
4frontotemporal dementia30.9LRRK2, APOE, APP, MAPT, GRN, TARDBP
5apraxia30.8GRN, MAPT
6frontotemporal lobar degeneration with ubiquitin-positive inclusions30.7GRN
7alzheimer's disease30.5LRRK2, APOE, APOC1, APP, TOMM40, PRNP
8progressive supranuclear palsy30.4APOE, MAPT, GRN, TARDBP
9pick's disease30.4APOE, APP, MAPT, TARDBP
10tauopathy30.3LRRK2, APP, MAPT, GRN
11creutzfeldt-jakob disease30.1APOE, APP, PRNP, MAPT
12amyloidosis29.9MAPT, PRNP, APP, APOE
13corticobasal degeneration10.5
14logopenic progressive aphasia10.5
15cerebritis10.4
16neuronitis10.3
17dysgraphia10.3
18transient global amnesia10.3
19agnosia10.3
20progressive non-fluent aphasia10.3
21kuru10.1PRNP
22ideomotor apraxia10.1
23learning disability10.1
24reading disorder10.1
25foix chavany marie syndrome10.1
26cerebral atrophy10.1
27genetic prion diseases10.1PRNP
28hereditary cerebral amyloid angiopathy10.1APP
29lrrk2-related parkinson disease10.1LRRK2
30inclusion body myositis10.1APP
31familial creutzfeldt-jakob disease10.1APOE, PRNP
32gerstmann-straussler-scheinker syndrome10.1APP, PRNP
33stroke, hemorrhagic10.0APOE, APP
34binswanger's disease10.0APOE, APP
35speech and communication disorders10.0APOE, FOXP2
36cerebrovascular disease10.0APOE, APP
37hemorrhage, intracerebral10.0PRNP, APP, APOE
38scrapie10.0MAPT, PRNP
39spinocerebellar ataxia10.0MAPT, PRNP
40parkinson disease type 310.0LRRK2, MAPT
41hypertriglyceridemia10.0APOE, APOC1
42hypertensive retinopathy10.0
43hypertension10.0
44niemann-pick disease10.0MAPT, APP
45brain ischemia10.0MAPT, APP
46movement disease10.0MAPT, LRRK2
47motor neuron disease10.0TARDBP, GRN, MAPT
48prion disease10.0APP, PRNP, MAPT
49multiple system atrophy10.0MAPT, PRNP, LRRK2
50glioblastoma multiforme10.0GRN, PRNP, APP

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



Diseases related to primary progressive aphasia

Symptoms for Primary Progressive Aphasia

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48OMIM
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Clinical features from OMIM:

607485

Drugs & Therapeutics for Primary Progressive Aphasia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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34MalaCards
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MalaCards organs/tissues related to Primary Progressive Aphasia:

34
Brain, Temporal lobe, Cortex, Testes

Animal Models for Primary Progressive Aphasia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Primary Progressive Aphasia:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.9LRRK2, APOE, GRN
2MP:00053958.3APOE, APP, PRNP, MAPT
3MP:00053918.2MAPT, FOXP2, PRNP, APOE
4MP:00053697.4APOE, APP, PRNP, FOXP2, MAPT, TARDBP
5MP:00053787.2APOE, APP, PRNP, FOXP2, MAPT, TARDBP
6MP:00053767.1LRRK2, APOE, APOC1, APP, PRNP, FOXP2
7MP:00053977.1LRRK2, APOE, PRNP, FOXP2, MAPT, GRN
8MP:00030126.7TARDBP, LRRK2, APOE, APP, PRNP, FOXP2
9MP:00053866.7LRRK2, APOE, APP, PRNP, FOXP2, MAPT
10MP:00053876.7LRRK2, APOE, APP, PRNP, FOXP2, MAPT
11MP:00053846.7LRRK2, APOE, APP, PRNP, FOXP2, MAPT
12MP:00036316.6LRRK2, APOE, APP, PRNP, FOXP2, MAPT
13MP:00107686.5LRRK2, APOE, APP, PRNP, FOXP2, MAPT

Publications for Primary Progressive Aphasia

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Sources:
53PubMed
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Articles related to Primary Progressive Aphasia:

(show top 50)    (show all 268)
idTitleAuthorsYear
1
Patterns of longitudinal brain atrophy in the logopenic variant of primary progressive aphasia. (23395096)
2013
2
Classification and pathology of primary progressive aphasia. (24142474)
2013
3
A case of primary progressive aphasia associated with psychosis. (24247878)
2013
4
Words and objects at the tip of the left temporal lobe in primary progressive aphasia. (23361063)
2013
5
An area essential for linking word meanings to word forms: evidence from primary progressive aphasia. (24183469)
2013
6
FOXP2, APOE, and PRNP: new modulators in primary progressive aphasia. (22129783)
2012
7
Crossed aphasia in a dextral patient with logopenic/phonological variant of primary progressive aphasia. (21959362)
2012
8
Gray matter density of auditory association cortex relates to knowledge of sound concepts in primary progressive aphasia. (22674273)
2012
9
Alzheimer's pathology in primary progressive aphasia. (20580129)
2012
10
Anatomic, clinical, and neuropsychological correlates of spelling errors in primary progressive aphasia. (22579708)
2012
11
Semantic interference during object naming in agrammatic and logopenic primary progressive aphasia (PPA). (22244508)
2012
12
Parkinsonian motor features distinguish the agrammatic from logopenic variant of primary progressive aphasia. (22575236)
2012
13
Automated classification of primary progressive aphasia subtypes from narrative speech transcripts. (23332818)
2012
14
Asymmetric TDP-43 distribution in primary progressive aphasia with progranulin mutation. (20479359)
2010
15
Phenomenology and anatomy of abnormal behaviours in primary progressive aphasia. (20400120)
2010
16
The Portuguese who could no longer speak French: primary progressive aphasia in a bilingual man. (20160239)
2010
17
Multimodal predictors for Alzheimer disease in nonfluent primary progressive aphasia. (20713948)
2010
18
The nature of naming errors in primary progressive aphasia versus acute post-stroke aphasia. (20804246)
2010
19
The logopenic variant of primary progressive aphasia. (20852419)
2010
20
Primary progressive aphasia: clinicopathological correlations. (20139998)
2010
21
Loss of word-meaning with spared object semantics in a case of mixed primary progressive aphasia. (20034661)
2010
22
Progranulin-associated primary progressive aphasia: a distinct phenotype? (19766663)
2010
23
Cortical neuroanatomic correlates of symptom severity in primary progressive aphasia. (20660866)
2010
24
Reading disorders in primary progressive aphasia: a behavioral and neuroimaging study. (19428421)
2009
25
Perispinal etanercept produces rapid improvement in primary progressive aphasia: identification of a novel, rapidly reversible TNF-mediated pathophysiologic mechanism. (18679537)
2008
26
Foreign accent syndrome as the initial sign of primary progressive aphasia. (17635973)
2008
27
Self-awareness and self-monitoring of cognitive and behavioral deficits in behavioral variant frontotemporal dementia, primary progressive aphasia and probable Alzheimer's disease. (18194832)
2008
28
Cognitive deficits and reduced insight in primary progressive aphasia. (18836134)
2008
29
Primary progressive aphasia: relationship between gender and severity of language impairment. (17356343)
2007
30
A review on primary progressive aphasia. (19300609)
2007
31
The mini-mental state examination in behavioral variant frontotemporal dementia and primary progressive aphasia. (18166606)
2007
32
Primary progressive aphasia: a case report. (17965034)
2007
33
Primary progressive aphasia. (17373342)
2007
34
Apoe epsilon2-epsilon4 genotype is a possible risk factor for primary progressive aphasia. (16437577)
2006
35
A case study of Primary Progressive Aphasia: improvement on verbs after rTMS treatment. (17182394)
2006
36
Different patterns of Mini Mental Status Examination responses in primary progressive aphasia and Alzheimer's disease. (16987166)
2006
37
Semantic dementia and fluent primary progressive aphasia: two sides of the same coin? (17071925)
2006
38
Deterioration of naming nouns versus verbs in primary progressive aphasia. (14755731)
2004
39
Primary progressive aphasia: a review. (15849155)
2004
40
Emotional prosody in primary progressive aphasia. (15249645)
2004
41
Primary progressive aphasia--a language-based dementia. (14561797)
2003
42
Frontotemporal decreases in rCBF correlate with degree of dysnomia in primary progressive aphasia. (10688104)
2000
43
An autopsy case of Alzheimer's disease presenting with primary progressive aphasia: a clinicopathological and immunohistochemical study. (11132942)
2000
44
Primary progressive aphasia: a patient with stress assignment impairment in reading aloud. (10938201)
2000
45
Apolipoprotein E genotypes in primary progressive aphasia. (9222169)
1997
46
Imaging in primary progressive aphasia. (9272491)
1997
47
Primary progressive aphasia and frontal lobe involvement. (8559410)
1996
48
Unilateral basal ganglia involvement in primary progressive aphasia. (7543938)
1995
49
Primary progressive aphasia. An uncommon masquerader of psychiatric disorders. (8171172)
1994
50
Pathologic findings in a case of primary progressive aphasia. (8309574)
1994

Variations for Primary Progressive Aphasia

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Primary Progressive Aphasia:

65
id Symbol AA change Variation ID SNP ID
1GRNp.Ala9AspVAR_044451

Clinvar genetic disease variations for Primary Progressive Aphasia:

1 (show all 15)
id Gene Name Type Significance SNP ID Assembly Location
1GRNGRN, IVS0, G-C, +5single nucleotide variantPathogenic
2GRNNM_002087.2(GRN): c.373C> T (p.Gln125Ter)single nucleotide variantPathogenicrs63750077GRCh37Chr 17, 42427619: 42427619
3GRNNM_002087.2(GRN): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs63751006GRCh37Chr 17, 42426534: 42426534
4GRNNM_002087.2(GRN): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs63750331GRCh37Chr 17, 42426535: 42426535
5GRNGRN, 4-BP INS, NT90insertionPathogenic
6GRNGRN, 4-BP DEL, NT388deletionPathogenic
7GRNGRN, IVS8, G-A, +1single nucleotide variantPathogenic
8GRNNM_002087.2(GRN): c.26C> A (p.Ala9Asp)single nucleotide variantPathogenicrs63751243GRCh37Chr 17, 42426558: 42426558
9GRNNM_002087.2(GRN): c.1477C> T (p.Arg493Ter)single nucleotide variantPathogenicrs63751294GRCh37Chr 17, 42429772: 42429772
10GRNGRN, 1-BP INS, 1145AinsertionPathogenic
11GRNGRN, IVS6AS, A-G, -2single nucleotide variantPathogenic
12GRNNM_002087.2(GRN): c.813_816delCACT (p.Thr272Serfs)deletionPathogenicrs63749877GRCh37Chr 17, 42428509: 42428512
13GRNGRN, 1-BP DEL, 102CdeletionPathogenic
14GRNGRN, 1-BP DEL, 154AdeletionPathogenic
15GRNGRN, IVS6AS, G-A, -1single nucleotide variantPathogenic

Expression for genes affiliated with Primary Progressive Aphasia

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2BioGPS, 16Gene 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:
51PathCards, 39NCBI BioSystems Database, 52PharmGKB, 55R&D Systems, 31KEGG, 54QIAGEN, 5Cell Signaling Technology
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Pathways related to Primary Progressive Aphasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.7APOC1, APOE
29.6APP, PRNP
39.5APP, APOE
4
Show member pathways
Alzheimers Disease39
8.7MAPT, APP, APOE
58.7MAPT, APP, APOE
68.7APOE, APP, MAPT
77.7TARDBP, MAPT, APP, APOE, LRRK2

Compounds for genes affiliated with Primary Progressive Aphasia

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Sources:
46Novoseek, 52PharmGKB, 12DrugBank, 30IUPHAR, 25HMDB, 3BitterDB, 62Tocris Bioscience
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Compounds related to Primary Progressive Aphasia according to GeneCards/GeneDecks:

(show all 47)
idCompoundScoreTop Affiliating Genes
1dimyristoylphosphatidylcholine4610.0APOC1, APOE
2metrifonate469.9APOE, APP
324s-hydroxy-cholesterol469.9APOE, APP
4thioflavin t469.9APOE, APP
5antivirals for treatment of hiv infections, combinations529.8APOE, APOC1, TOMM40
6ritonavir46 52 1211.8APOE, APOC1, TOMM40
7tmao469.7APOC1, MAPT
8guanidine hydrochloride469.6PRNP, APOE
9thioflavin469.5MAPT, APP
10ibuprofen46 30 52 25 1213.5APP, APOE
11memantine46 30 52 1212.5MAPT, APP
12spec-t469.4APOE, MAPT
13valproate469.3MAPT, APP
14guanidine46 25 1211.2MAPT, PRNP, APOE
15thioflavine s469.1MAPT, APP, APOE
16tacrine46 1210.1MAPT, APP, APOE
17donepezil46 52 25 1212.1APOE, APP, MAPT
18galantamine46 52 1211.1MAPT, APP, APOE
19vitamin b12469.1MAPT, APOE
20formaldehyde46 2510.1APP, PRNP, MAPT
214-hydroxynonenal46 2510.1MAPT, APP, APOE
22chloroquine46 3 52 30 1213.1MAPT, APP, APOE
23lactacystin469.0MAPT, APP, APOE
24folate469.0APOE, APP, MAPT
25nicotine46 30 52 1212.0MAPT, APP, APOE
26paraffin468.9MAPT, PRNP, APOE
27nmda46 309.9MAPT, APP, APOE
28acetylcholine46 52 30 25 1212.9MAPT, APP, APOE
29cholesterol46 30 25 1211.9PRNP, TOMM40, APP, APOC1, APOE
30vegf468.9APOE, APP, FOXP2, GRN
31actinomycin d468.9APOE, APP, MAPT
32c2ceramide468.8MAPT, APP
33cyclosporin a46 30 6210.7APOE, APP, MAPT
34formate468.7APOE, APP, PRNP, MAPT
35valine468.7APOE, APP, PRNP, MAPT
36aspartate468.7MAPT, PRNP, APP, APOE
37heparin46 30 25 1211.6APOE, APP, PRNP, MAPT
38h2o2468.6MAPT, PRNP, APP, APOE
39cysteine468.6GRN, MAPT, APP, APOE
40arginine468.6APOE, APP, PRNP, MAPT
41dopamine46 30 25 1211.5LRRK2, APOE, APP, MAPT
42glutamine468.4APOE, APP, FOXP2, MAPT
43sodium dodecylsulfate468.4MAPT, PRNP, APP, APOC1, APOE
44lipid468.4LRRK2, APOE, APOC1, APP, TOMM40, PRNP
45estrogen468.3GRN, MAPT, FOXP2, APOC1, APOE
46glutamate468.1APOE, APP, PRNP, FOXP2, MAPT
47alanine467.8APOE, APOC1, APP, PRNP, FOXP2, MAPT

GO Terms for genes affiliated with Primary Progressive Aphasia

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17Gene Ontology
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Cellular components related to Primary Progressive Aphasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chylomicronGO:0426279.7APOC1, APOE
2high-density lipoprotein particleGO:0343649.7APOC1, APOE
3very-low-density lipoprotein particleGO:0343619.4APOC1, APOE
4axonGO:0304248.5MAPT, APP, LRRK2

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1very-low-density lipoprotein particle clearanceGO:03444710.0APOC1, APOE
2chylomicron remnant clearanceGO:03438210.0APOC1, APOE
3positive regulation of cholesterol esterificationGO:0108739.9APOE, APOC1
4phospholipid effluxGO:0337009.9APOE, APOC1
5high-density lipoprotein particle remodelingGO:0343759.8APOC1, APOE
6cellular copper ion homeostasisGO:0068789.7APP, PRNP
7lipoprotein metabolic processGO:0421579.7APOC1, APOE
8cholesterol effluxGO:0333449.6APOC1, APOE
9cholesterol metabolic processGO:0082039.4APP, APOC1, APOE
10triglyceride metabolic processGO:0066419.4APOC1, APOE
11cell deathGO:0082199.4TARDBP, GRN, APOE
12axon cargo transportGO:0080889.3MAPT, APP
13response to oxidative stressGO:0069799.3PRNP, APP, LRRK2
14positive regulation of axon extensionGO:0457739.2APOE, MAPT

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

idNameGO IDScoreTop Affiliating Genes
1phosphatidylcholine-sterol O-acyltransferase activator activityGO:0602289.6APOE, APOC1
2tubulin bindingGO:0156319.3LRRK2, PRNP
3lipoprotein particle bindingGO:0718139.2APOE, MAPT
4identical protein bindingGO:0428028.3TARDBP, PRNP, APP, APOE, LRRK2
5protein bindingGO:0055157.1TARDBP, GRN, MAPT, PRNP, APP, APOE

Products for genes affiliated with Primary Progressive Aphasia

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Sources for Primary Progressive Aphasia

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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