MCID: PRG033
MIFTS: 52

Progressive Non-Fluent Aphasia

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Progressive Non-Fluent Aphasia

MalaCards integrated aliases for Progressive Non-Fluent Aphasia:

Name: Progressive Non-Fluent Aphasia 20 58
Non-Fluent Variant Ppa 20 58
Agramatic Variant of Primary Progressive Aphasia 58
Non-Fluent Primary Progressive Aphasia 20
Primary Progressive Non Fluent Aphasia 6
Primary Progressive Nonfluent Aphasia 70
Progressive Nonfluent Aphasia 54
Agramatic Variant of Ppa 58

Characteristics:

Orphanet epidemiological data:

58
progressive non-fluent aphasia
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

MESH via Orphanet 45 D057178
ICD10 via Orphanet 33 G31.0
UMLS via Orphanet 71 C0751706
Orphanet 58 ORPHA100070
UMLS 70 C0751706

Summaries for Progressive Non-Fluent Aphasia

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 100070 Definition Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved.

MalaCards based summary : Progressive Non-Fluent Aphasia, also known as non-fluent variant ppa, is related to frontotemporal lobar degeneration with tdp43 inclusions, grn-related and corticobasal degeneration. An important gene associated with Progressive Non-Fluent Aphasia is GRN (Granulin Precursor), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Neuroscience. The drugs Aluminum hydroxide and Corticosterone have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and temporal lobe, and related phenotypes are dysphasia and thickened nuchal skin fold

Wikipedia : 73 Progressive nonfluent aphasia (PNFA) is one of three clinical syndromes associated with frontotemporal... more...

Related Diseases for Progressive Non-Fluent Aphasia

Diseases related to Progressive Non-Fluent Aphasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 32.2 MAPT GRN
2 corticobasal degeneration 30.7 TBK1 MAPT
3 apraxia 30.2 PSEN1 MAPT GRN C9orf72
4 echolalia 30.1 MAPT GRN C9orf72
5 lateral sclerosis 30.0 VCP TBK1 CHMP2B C9orf72
6 dysgraphia 29.8 MAPT GRN CHMP2B C9orf72
7 mutism 29.7 MAPT GRN CHMP2B C9orf72
8 pick disease of brain 29.5 VCP TREM2 TMEM106B PSEN1 MAPT GRN
9 aphasia 29.3 VCP TMEM106B TBK1 PSEN1 MAPT GRN
10 alzheimer disease 29.2 VCP TREM2 PSEN1 MAPT GRN
11 nominal aphasia 29.1 VCP PSEN1 MAPT GRN CHMP2B C9orf72
12 movement disease 29.0 VCP PSEN1 MAPT GRN CHMP2B C9orf72
13 semantic dementia 28.9 TREM2 TMEM106B PSEN1 MAPT GRN CHMP2B
14 speech and communication disorders 28.6 VCP TMEM106B PSEN1 MAPT GRN CHMP2B
15 supranuclear palsy, progressive, 1 28.2 VCP TREM2 TMEM106B PSEN1 MAPT GRN
16 frontotemporal dementia 28.1 VCP TREM2 TMEM106B TBK1 PSEN1 MAPT
17 dementia 28.1 VCP TREM2 TMEM106B TBK1 PSEN1 MAPT
18 amyotrophic lateral sclerosis 1 27.8 VCP TREM2 TMEM106B TBK1 PSEN1 MAPT
19 progressive supranuclear palsy-progressive non-fluent aphasia syndrome 11.4
20 creutzfeldt-jakob disease 10.2
21 parkinsonism 10.2
22 cerebral degeneration 10.2
23 logopenic progressive aphasia 10.2
24 apperceptive agnosia 10.2 GRN C9orf72
25 anosognosia 10.1 PSEN1 C9orf72
26 ataxia and polyneuropathy, adult-onset 10.1
27 apraxia of eyelid opening 10.1
28 hereditary spastic paraplegia 10.1
29 paraplegia 10.1
30 spasticity 10.1
31 amyotrophic lateral sclerosis type 15 10.1 CHMP2B C9orf72
32 simultanagnosia 10.1 PSEN1 MAPT
33 amyotrophic lateral sclerosis 10 with or without frontotemporal dementia 10.0 CHMP2B C9orf72
34 pica disease 10.0 MAPT C9orf72
35 alzheimer disease 2 10.0 PSEN1 MAPT
36 epilepsy, idiopathic generalized 2 10.0 MAPT C9orf72
37 alzheimer disease 9 10.0 PSEN1 MAPT
38 amyotrophic lateral sclerosis type 14 10.0 VCP CHMP2B
39 communicating hydrocephalus 10.0 PSEN1 MAPT
40 amyotrophic lateral sclerosis 16, juvenile 10.0 VCP CHMP2B
41 amyotrophic lateral sclerosis 8 10.0 VCP C9orf72
42 multisystem proteinopathy 10.0 VCP C9orf72
43 ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension 9.9 PSEN1 MAPT
44 gerstmann syndrome 9.9 PSEN1 MAPT GRN
45 visual agnosia 9.9 PSEN1 MAPT GRN
46 arteriolosclerosis 9.9 TMEM106B MAPT
47 ideomotor apraxia 9.9 MAPT GRN C9orf72
48 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 9.9 MAPT C9orf72
49 amnestic disorder 9.9 PSEN1 MAPT
50 speech disorder 9.9 MAPT GRN C9orf72

Graphical network of the top 20 diseases related to Progressive Non-Fluent Aphasia:



Diseases related to Progressive Non-Fluent Aphasia

Symptoms & Phenotypes for Progressive Non-Fluent Aphasia

Human phenotypes related to Progressive Non-Fluent Aphasia:

58 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002357
2 thickened nuchal skin fold 58 31 hallmark (90%) Very frequent (99-80%) HP:0000474
3 memory impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002354
4 temporal cortical atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0007112
5 frontotemporal dementia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002145
6 frontotemporal cerebral atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0006892
7 grammar-specific speech disorder 58 31 hallmark (90%) Very frequent (99-80%) HP:0006977
8 spoken word recognition deficit 58 31 hallmark (90%) Very frequent (99-80%) HP:0030391
9 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
10 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
11 abnormality of the cerebral white matter 58 31 frequent (33%) Frequent (79-30%) HP:0002500
12 apraxia 58 31 frequent (33%) Frequent (79-30%) HP:0002186
13 abnormal brain fdg positron emission tomography 58 31 frequent (33%) Frequent (79-30%) HP:0012658
14 alexia 58 31 frequent (33%) Frequent (79-30%) HP:0010523
15 eeg with continuous slow activity 58 31 frequent (33%) Frequent (79-30%) HP:0011204
16 dysgraphia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010526
17 restlessness 58 31 occasional (7.5%) Occasional (29-5%) HP:0000711
18 personality changes 58 31 occasional (7.5%) Occasional (29-5%) HP:0000751
19 mutism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002300
20 parkinsonism 58 31 occasional (7.5%) Occasional (29-5%) HP:0001300
21 astrocytosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002446
22 abnormal lower motor neuron morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0002366
23 motor aphasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002427
24 perseveration 58 31 occasional (7.5%) Occasional (29-5%) HP:0030223
25 senile plaques 58 31 occasional (7.5%) Occasional (29-5%) HP:0100256
26 behavioral abnormality 58 Occasional (29-5%)
27 stroke 58 Excluded (0%)
28 abnormality of extrapyramidal motor function 58 Occasional (29-5%)
29 mental deterioration 58 Very frequent (99-80%)
30 aphasia 58 Very frequent (99-80%)
31 neurofibrillary tangles 58 Excluded (0%)
32 brain neoplasm 58 Excluded (0%)
33 lewy bodies 58 Excluded (0%)

MGI Mouse Phenotypes related to Progressive Non-Fluent Aphasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.02 C9orf72 CHMP2B GRN MAPT PSEN1 TBK1
2 cardiovascular system MP:0005385 9.98 C9orf72 CHMP2B MAPT PSEN1 TBK1 TREM2
3 cellular MP:0005384 9.95 C9orf72 GRN MAPT PSEN1 TMEM106B TREM2
4 homeostasis/metabolism MP:0005376 9.92 C9orf72 CHMP2B GRN MAPT PSEN1 TBK1
5 immune system MP:0005387 9.91 C9orf72 CHMP2B GRN MAPT PSEN1 TBK1
6 integument MP:0010771 9.7 C9orf72 GRN MAPT PSEN1 TBK1 TMEM106B
7 nervous system MP:0003631 9.56 C9orf72 CHMP2B GRN MAPT PSEN1 TMEM106B
8 no phenotypic analysis MP:0003012 9.02 C9orf72 GRN MAPT TBK1 TREM2

Drugs & Therapeutics for Progressive Non-Fluent Aphasia

Drugs for Progressive Non-Fluent Aphasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aluminum hydroxide Approved, Investigational Phase 1 21645-51-2
2
Corticosterone Experimental Phase 1 50-22-6 5753
3 Fluorodeoxyglucose F18 Phase 1
4 Deoxyglucose Phase 1
5 Vaccines Phase 1
6 Keyhole-limpet hemocyanin Phase 1
7 Immunoglobulins Phase 1
8 Antibodies Phase 1
9 Antibodies, Monoclonal Phase 1
10 Flutemetamol Investigational 637003-10-2
11 Radiopharmaceuticals

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Longitudinal Multi-Modality Imaging in Progressive Apraxia of Speech Recruiting NCT01818661 Phase 4 AV-1451
2 PiB PET Scanning in Speech and Language Based Dementias Completed NCT01623284 Phase 1 C-11 PiB;F-18 FDG
3 A 12 Week Randomized, Double Blind, Placebo-Controlled Pilot Study of Davunetide (NAP, AL-108) in Predicted Tauopathies Completed NCT01056965 Phase 1 davunetide (AL-108, NAP);Placebo nasal spray
4 A 24-month Randomised Parallel Group Single-blinded Multi-centre Phase 1 Pilot Study of AADvac1 in Patients With Non Fluent Primary Progressive Aphasia Active, not recruiting NCT03174886 Phase 1 AADvac1 40 µg;AADvac1 160 µg
5 A Phase 1b, Randomized, Double-Blind, Placebo-Controlled, Parallel Cohort Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Preliminary Efficacy Study of Intravenously Infused BIIB092 in Patients With Four Different Primary Tauopathy Syndromes Terminated NCT03658135 Phase 1 BIIB092
6 Multimodal Assessment For Predicting Specific Pathological Substrate in Frontotemporal Lobar Degeneration Unknown status NCT02964637
7 Communication Bridge Speech Therapy Research Study: Using Internet-Based Speech Therapy to Improve Quality of Life and Access to Care Completed NCT02439853
8 Language in Primary Progressive Aphasia Recruiting NCT00537004
9 A Randomized, Double-blinded, Sham-controlled Cross-over Study of Theta-burst Transcranial Magnetic Stimulation in Nonfluent/Agrammatic Variant Primary Progressive Aphasia Recruiting NCT03153540
10 Pilot Study of Repetitive Transcranial Magnetic Stimulation in Patients With Primary Progressive Aphasia. Recruiting NCT03406429 Early Phase 1
11 The Neurobiology of Two Distinct Types of Progressive Apraxia of Speech Recruiting NCT03313011
12 The Swedish BioFINDER 2 Study Recruiting NCT03174938

Search NIH Clinical Center for Progressive Non-Fluent Aphasia

Genetic Tests for Progressive Non-Fluent Aphasia

Anatomical Context for Progressive Non-Fluent Aphasia

MalaCards organs/tissues related to Progressive Non-Fluent Aphasia:

40
Brain, Cortex, Temporal Lobe, Prefrontal Cortex, Parietal Lobe, Caudate Nucleus, Amygdala

Publications for Progressive Non-Fluent Aphasia

Articles related to Progressive Non-Fluent Aphasia:

(show top 50) (show all 206)
# Title Authors PMID Year
1
Serum progranulin levels in patients with frontotemporal lobar degeneration and Alzheimer's disease: detection of GRN mutations in a Spanish cohort. 6 61
22647257 2012
2
A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series. 6 61
18234697 2008
3
Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series. 6
30279455 2020
4
Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy. 6
28264768 2017
5
GRN and MAPT Mutations in 2 Frontotemporal Dementia Research Centers in Brazil. 6
27082848 2016
6
Analyses MAPT, GRN, and C9orf72 mutations in Chinese patients with frontotemporal dementia. 6
27311648 2016
7
A Novel Splice-Acceptor Site Mutation in GRN (c.709-2 A>T) Causes Frontotemporal Dementia Spectrum in a Large Family from Southern Italy. 6
27258413 2016
8
Asymmetric pathology in primary progressive aphasia with progranulin mutations and TDP inclusions. 6
26791154 2016
9
Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort. 6
23338682 2013
10
Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. 6
22608501 2012
11
Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. 6
22366795 2012
12
FTLD-TDP with motor neuron disease, visuospatial impairment and a progressive supranuclear palsy-like syndrome: broadening the clinical phenotype of TDP-43 proteinopathies. A report of three cases. 6
21569259 2011
13
Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration. 6
21482928 2011
14
Accelerated lipofuscinosis and ubiquitination in granulin knockout mice suggest a role for progranulin in successful aging. 6
20522652 2010
15
Alzheimer disease-like phenotype associated with the c.154delA mutation in progranulin. 6
20142525 2010
16
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration. 6
20142524 2010
17
The heritability and genetics of frontotemporal lobar degeneration. 6
19884572 2009
18
"Frontotemporoparietal" dementia: clinical phenotype associated with the c.709-1G>A PGRN mutation. 6
19858458 2009
19
Frontotemporal dementia in a large Swedish family is caused by a progranulin null mutation. 6
18855025 2009
20
Distinct genetic forms of frontotemporal dementia. 6
18703462 2008
21
Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series. 6
18392865 2008
22
Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia. 6
18183624 2008
23
Parietal lobe deficits in frontotemporal lobar degeneration caused by a mutation in the progranulin gene. 6
18413474 2008
24
Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion. 6
17984093 2008
25
Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family. 6
17923627 2007
26
Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative. 6
17826340 2007
27
Clinicopathologic correlation in PGRN mutations. 6
17522386 2007
28
Clinical, genetic, and pathologic characteristics of patients with frontotemporal dementia and progranulin mutations. 6
17698705 2007
29
Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation. 6
17620546 2007
30
A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology. 6
17439980 2007
31
Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia. 6
17345602 2007
32
Progranulin mutations in Dutch familial frontotemporal lobar degeneration. 6
17228326 2007
33
Clinicopathologic features of frontotemporal dementia with progranulin sequence variation. 6
17202431 2007
34
Neuropathologic heterogeneity in HDDD1: a familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation. 6
17334266 2007
35
Progranulin mutations in primary progressive aphasia: the PPA1 and PPA3 families. 6
17210807 2007
36
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. 6
16950801 2006
37
Characteristics of frontotemporal dementia patients with a Progranulin mutation. 6
16983677 2006
38
HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin. 6
16983685 2006
39
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. 6
16862115 2006
40
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. 6
16862116 2006
41
A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17. 6
16401619 2006
42
A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD. 6
16495329 2006
43
Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cM interval. 6
12476321 2002
44
Hereditary dysphasic disinhibition dementia: a frontotemporal dementia linked to 17q21-22. 6
9633693 1998
45
Mapping of a disease locus for familial rapidly progressive frontotemporal dementia to chromosome 17q12-21. 6
9259373 1997
46
Clinical characteristics of a chromosome 17-linked rapidly progressive familial frontotemporal dementia. 6
9152110 1997
47
Hereditary dysphasic dementia and the Pick-Alzheimer spectrum. 6
6497355 1984
48
Case of early-onset Alzheimer's disease with atypical manifestation. 61
33585790 2021
49
Examining prefrontal contributions to past- and future-oriented memory disturbances in daily life in dementia. 61
33333361 2021
50
Breakdowns in Informativeness of Naturalistic Speech Production in Primary Progressive Aphasia. 61
33498260 2021

Variations for Progressive Non-Fluent Aphasia

ClinVar genetic disease variations for Progressive Non-Fluent Aphasia:

6 (show top 50) (show all 165)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GRN GRN, IVS6AS, G-A, -1 SNV Pathogenic 29743 GRCh37:
GRCh38:
2 GRN NM_002087.3(GRN):c.708+1G>A SNV Pathogenic 203460 rs63749817 GRCh37: 17:42428169-42428169
GRCh38: 17:44350801-44350801
3 GRN NM_002087.3(GRN):c.907del (p.Ala303fs) Deletion Pathogenic 437406 rs1555611256 GRCh37: 17:42428798-42428798
GRCh38: 17:44351430-44351430
4 GRN NM_002087.3(GRN):c.80dup (p.Val28fs) Duplication Pathogenic 540277 rs1392550887 GRCh37: 17:42426609-42426610
GRCh38: 17:44349241-44349242
5 GRN NM_002087.3(GRN):c.1414-2A>G SNV Pathogenic 447471 rs1555611412 GRCh37: 17:42429707-42429707
GRCh38: 17:44352339-44352339
6 GRN NM_002087.3(GRN):c.991C>T (p.Gln331Ter) SNV Pathogenic 569790 rs1567887496 GRCh37: 17:42428975-42428975
GRCh38: 17:44351607-44351607
7 GRN NM_002087.4(GRN):c.836-1G>C SNV Pathogenic 98157 rs63751296 GRCh37: 17:42428730-42428730
GRCh38: 17:44351362-44351362
8 GRN NM_002087.4(GRN):c.709-2A>G SNV Pathogenic 98150 rs63750548 GRCh37: 17:42428403-42428403
GRCh38: 17:44351035-44351035
9 GRN GRN, 1-BP DEL, 154A Deletion Pathogenic 16022 GRCh37:
GRCh38:
10 GRN GRN, 1-BP DEL, 102C Deletion Pathogenic 16021 GRCh37:
GRCh38:
11 GRN GRN, IVS6AS, A-G, -2 SNV Pathogenic 16019 GRCh37:
GRCh38:
12 GRN NM_002087.3(GRN):c.1144dup (p.Thr382Asnfs) Duplication Pathogenic 98169 rs63749905 GRCh37: 17:42429127-42429128
GRCh38: 17:44351759-44351760
13 GRN NM_002087.4(GRN):c.1477C>T (p.Arg493Ter) SNV Pathogenic 16014 rs63751294 GRCh37: 17:42429772-42429772
GRCh38: 17:44352404-44352404
14 GRN NM_002087.4(GRN):c.26C>A (p.Ala9Asp) SNV Pathogenic 16013 rs63751243 GRCh37: 17:42426558-42426558
GRCh38: 17:44349190-44349190
15 GRN NM_002087.3(GRN):c.835+1G>A SNV Pathogenic 16012 rs606231221 GRCh37: 17:42428532-42428532
GRCh38: 17:44351164-44351164
16 GRN NM_002087.3(GRN):c.388_391del (p.Gln130fs) Deletion Pathogenic 16011 rs63749801 GRCh37: 17:42427631-42427634
GRCh38: 17:44350263-44350266
17 GRN NM_002087.3(GRN):c.93_96dup (p.Asp33fs) Duplication Pathogenic 16010 rs606231220 GRCh37: 17:42426621-42426622
GRCh38: 17:44349253-44349254
18 GRN NM_002087.4(GRN):c.3G>A (p.Met1Ile) SNV Pathogenic 16009 rs63750331 GRCh37: 17:42426535-42426535
GRCh38: 17:44349167-44349167
19 GRN NM_002087.4(GRN):c.2T>C (p.Met1Thr) SNV Pathogenic 16008 rs63751006 GRCh37: 17:42426534-42426534
GRCh38: 17:44349166-44349166
20 GRN NM_002087.4(GRN):c.373C>T (p.Gln125Ter) SNV Pathogenic 16007 rs63750077 GRCh37: 17:42427619-42427619
GRCh38: 17:44350251-44350251
21 GRN GRN, IVS0DS, G-C, +5 SNV Pathogenic 16006 GRCh37:
GRCh38:
22 GRN NM_002087.3(GRN):c.768_769dup (p.Gln257fs) Duplication Pathogenic 803427 rs1567887004 GRCh37: 17:42428463-42428464
GRCh38: 17:44351095-44351096
23 GRN NM_002087.4(GRN):c.1402C>T (p.Gln468Ter) SNV Pathogenic 98184 rs63749908 GRCh37: 17:42429605-42429605
GRCh38: 17:44352237-44352237
24 GRN NM_002087.3(GRN):c.918C>A (p.Cys306Ter) SNV Pathogenic 807426 rs1598364782 GRCh37: 17:42428813-42428813
GRCh38: 17:44351445-44351445
25 GRN NM_002087.4(GRN):c.1252C>T (p.Arg418Ter) SNV Pathogenic 98177 rs63751180 GRCh37: 17:42429455-42429455
GRCh38: 17:44352087-44352087
26 GRN NM_002087.3(GRN):c.146G>A (p.Trp49Ter) SNV Pathogenic 807610 rs1598362746 GRCh37: 17:42426801-42426801
GRCh38: 17:44349433-44349433
27 GRN NM_002087.4(GRN):c.264G>A (p.Glu88=) SNV Pathogenic 98130 rs63751166 GRCh37: 17:42426919-42426919
GRCh38: 17:44349551-44349551
28 GRN NM_002087.3(GRN):c.349+1G>C SNV Pathogenic 807611 rs1598363083 GRCh37: 17:42427120-42427120
GRCh38: 17:44349752-44349752
29 GRN NM_002087.3(GRN):c.424dup (p.Met142fs) Duplication Pathogenic 807612 rs1598363490 GRCh37: 17:42427669-42427670
GRCh38: 17:44350301-44350302
30 GRN NM_002087.3(GRN):c.709-4_713del Deletion Pathogenic 807613 rs1598364296 GRCh37: 17:42428397-42428405
GRCh38: 17:44351029-44351037
31 GRN NM_002087.4(GRN):c.709-2A>G SNV Pathogenic 98150 rs63750548 GRCh37: 17:42428403-42428403
GRCh38: 17:44351035-44351035
32 GRN NM_002087.3(GRN):c.753_754TG[3] (p.Cys253_Asp254delinsTer) Microsatellite Pathogenic 98152 rs63751035 GRCh37: 17:42428449-42428450
GRCh38: 17:44351081-44351082
33 GRN NM_002087.4(GRN):c.328C>T (p.Arg110Ter) SNV Pathogenic 98134 rs63750411 GRCh37: 17:42427098-42427098
GRCh38: 17:44349730-44349730
34 GRN NM_002087.4(GRN):c.1477C>T (p.Arg493Ter) SNV Pathogenic 16014 rs63751294 GRCh37: 17:42429772-42429772
GRCh38: 17:44352404-44352404
35 GRN NM_002087.4(GRN):c.138+1G>A SNV Pathogenic 98126 rs63749844 GRCh37: 17:42426671-42426671
GRCh38: 17:44349303-44349303
36 GRN NM_002087.4(GRN):c.-8+5G>C SNV Pathogenic 98119 rs63750313 GRCh37: 17:42422707-42422707
GRCh38: 17:44345339-44345339
37 GRN NM_002087.3(GRN):c.898C>T (p.Gln300Ter) SNV Pathogenic 447479 rs1555611253 GRCh37: 17:42428793-42428793
GRCh38: 17:44351425-44351425
38 GRN NM_002087.4(GRN):c.383_386del (p.Asp128fs) Deletion Pathogenic 949246 GRCh37: 17:42427628-42427631
GRCh38: 17:44350260-44350263
39 GRN NM_002087.4(GRN):c.103G>A (p.Gly35Arg) SNV Pathogenic 976698 GRCh37: 17:42426635-42426635
GRCh38: 17:44349267-44349267
40 GRN NM_002087.3(GRN):c.882T>G (p.Tyr294Ter) SNV Pathogenic 203456 rs794729670 GRCh37: 17:42428777-42428777
GRCh38: 17:44351409-44351409
41 GRN NM_002087.3(GRN):c.102del (p.Gly35fs) Deletion Pathogenic 98125 rs63751073 GRCh37: 17:42426631-42426631
GRCh38: 17:44349263-44349263
42 GRN NM_002087.3(GRN):c.813_816del (p.Thr272fs) Deletion Pathogenic 16020 rs63749877 GRCh37: 17:42428507-42428510
GRCh38: 17:44351139-44351142
43 GRN NM_002087.3(GRN):c.675_676del (p.Ser226fs) Deletion Pathogenic 98246 rs63751085 GRCh37: 17:42428135-42428136
GRCh38: 17:44350767-44350768
44 GRN NM_002087.3(GRN):c.675_676del (p.Ser226fs) Deletion Pathogenic 98246 rs63751085 GRCh37: 17:42428135-42428136
GRCh38: 17:44350767-44350768
45 GRN NM_002087.4(GRN):c.933+1G>A SNV Likely pathogenic 98163 rs63750707 GRCh37: 17:42428829-42428829
GRCh38: 17:44351461-44351461
46 TBK1 NM_013254.4(TBK1):c.2107G>T (p.Glu703Ter) SNV Likely pathogenic 619188 rs1565825132 GRCh37: 12:64891788-64891788
GRCh38: 12:64498008-64498008
47 GRN NM_002087.4(GRN):c.1253G>A (p.Arg418Gln) SNV Conflicting interpretations of pathogenicity 98178 rs63751100 GRCh37: 17:42429456-42429456
GRCh38: 17:44352088-44352088
48 GRN NM_002087.3(GRN):c.1288C>G (p.Pro430Ala) SNV Uncertain significance 451952 rs200645022 GRCh37: 17:42429491-42429491
GRCh38: 17:44352123-44352123
49 GRN NM_002087.3(GRN):c.1647C>T (p.Gly549=) SNV Uncertain significance 323538 rs745391227 GRCh37: 17:42430031-42430031
GRCh38: 17:44352663-44352663
50 GRN NM_002087.3(GRN):c.100C>G (p.Pro34Ala) SNV Uncertain significance 323531 rs748147151 GRCh37: 17:42426632-42426632
GRCh38: 17:44349264-44349264

Expression for Progressive Non-Fluent Aphasia

Search GEO for disease gene expression data for Progressive Non-Fluent Aphasia.

Pathways for Progressive Non-Fluent Aphasia

Pathways related to Progressive Non-Fluent Aphasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.28 VCP TBK1 PSEN1 MAPT CHMP2B C9orf72
2 11.97 TREM2 PSEN1 MAPT
3 11.82 VCP MAPT CHMP2B
4 10.61 PSEN1 MAPT

GO Terms for Progressive Non-Fluent Aphasia

Cellular components related to Progressive Non-Fluent Aphasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 9.5 TMEM106B PSEN1 GRN
2 lysosome GO:0005764 9.46 TMEM106B GRN CHMP2B C9orf72
3 growth cone GO:0030426 9.43 PSEN1 MAPT C9orf72
4 endosome GO:0005768 9.02 TMEM106B PSEN1 GRN CHMP2B C9orf72
5 main axon GO:0044304 8.96 MAPT C9orf72

Biological processes related to Progressive Non-Fluent Aphasia according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 9.74 TREM2 TBK1 PSEN1
2 negative regulation of gene expression GO:0010629 9.7 TBK1 PSEN1 MAPT
3 synapse organization GO:0050808 9.56 PSEN1 MAPT
4 regulation of synaptic plasticity GO:0048167 9.55 PSEN1 MAPT
5 cellular response to heat GO:0034605 9.54 VCP MAPT
6 cellular response to amyloid-beta GO:1904646 9.51 TREM2 PSEN1
7 lysosome organization GO:0007040 9.49 TMEM106B GRN
8 positive regulation of macroautophagy GO:0016239 9.48 TBK1 C9orf72
9 microglial cell activation GO:0001774 9.46 TREM2 MAPT
10 stress granule assembly GO:0034063 9.43 MAPT C9orf72
11 lysosomal transport GO:0007041 9.4 TMEM106B GRN
12 positive regulation of ATP biosynthetic process GO:2001171 9.37 VCP TREM2
13 regulation of resting membrane potential GO:0060075 9.32 TREM2 PSEN1
14 microglial cell activation involved in immune response GO:0002282 9.26 TREM2 GRN
15 autophagy GO:0006914 9.26 VCP PSEN1 CHMP2B C9orf72
16 astrocyte activation involved in immune response GO:0002265 9.16 PSEN1 GRN
17 astrocyte activation GO:0048143 8.8 TREM2 PSEN1 MAPT

Molecular functions related to Progressive Non-Fluent Aphasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apolipoprotein binding GO:0034185 8.96 TREM2 MAPT
2 lipoprotein particle binding GO:0071813 8.62 TREM2 MAPT

Sources for Progressive Non-Fluent Aphasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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