Aliases & Classifications for Aphasia

MalaCards integrated aliases for Aphasia:

Name: Aphasia 12 53 54 6 42 43 15 71


External Ids:

Disease Ontology 12 DOID:0060046
MeSH 43 D001037
UMLS 71 C0003537

Summaries for Aphasia

NINDS : 53 Aphasia is a neurological disorder caused by damage to the portions of the brain that are responsible for language production or processing.  It may occur suddenly or progressively, depending on the type and location of brain tissue involved.  Primary signs of the disorder include difficulty in expressing oneself when speaking, trouble understanding speech, and difficulty with reading and writing. Aphasia is not a disease, but a symptom of brain damage. Although it is primarily seen in individuals who have suffered a stroke, aphasia can also result from a brain tumor, infection, inflammation, head injury, or dementia that affect language-associated regions of the brain. It is estimated that about 1 million people in the United States today suffer from aphasia. The type and severity of language dysfunction depends on the precise location and extent of the damaged brain tissue. Generally, aphasia can be divided into four broad categories: (1) Expressive aphasia (also called Broca's aphasia) involves difficulty in conveying thoughts through speech or writing. The person knows what she/he wants to say, but cannot find the words he needs. (2) Receptive aphasia (Wernicke's aphasia) involves difficulty understanding spoken or written language. The individual hears the voice or sees the print but cannot make sense of the words. (3) Global aphasia results from severe and extensive damage to the language areas of the brain.  People lose almost all language function, both comprehension and expression. They cannot speak or understand speech, nor can they read or write.  (4) Individuals with anomic or amnesia aphasia, the least severe form of aphasia, have difficulty in using the correct names for particular objects, people, places, or events.

MalaCards based summary : Aphasia is related to epilepsy-aphasia spectrum and frontotemporal lobar degeneration with tdp43 inclusions, grn-related, and has symptoms including seizures, tremor and fever. An important gene associated with Aphasia is L1CAM (L1 Cell Adhesion Molecule), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Neuroscience. The drugs Levodopa and Memantine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and cortex, and related phenotypes are behavior/neurological and cellular

Disease Ontology : 12 A language disorder that involves an acquired impairment of any laguage modality such as producting or comprehending spoken or written language.

MedlinePlus : 42 Aphasia is a disorder caused by damage to the parts of the brain that control language. It can make it hard for you to read, write, and say what you mean to say. It is most common in adults who have had a stroke. Brain tumors, infections, injuries, and dementia can also cause it. The type of problem you have and how bad it is depends on which part of your brain is damaged and how much damage there is. There are four main types: Expressive aphasia - you know what you want to say, but you have trouble saying or writing what you mean Receptive aphasia - you hear the voice or see the print, but you can't make sense of the words Anomic aphasia - you have trouble using the correct word for objects, places, or events Global aphasia - you can't speak, understand speech, read, or write Some people recover from aphasia without treatment. Most, however, need language therapy as soon as possible. NIH: National Institute of Neurological Disorders and Stroke

Wikipedia : 74 Aphasia is an inability to comprehend or formulate language because of damage to specific brain regions.... more...

Related Diseases for Aphasia

Diseases related to Aphasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 468)
# Related Disease Score Top Affiliating Genes
1 epilepsy-aphasia spectrum 34.8 GRIN2A CNKSR2
2 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 34.6 MAPT GRN
3 nominal aphasia 34.4 TARDBP MAPT GRN CHMP2B C9orf72 APOE
4 progressive non-fluent aphasia 34.4 TBK1 PSEN1 MAPT GRN CHMP2B C9orf72
5 landau-kleffner syndrome 34.1 SRPX2 GRIN2A CNKSR2
6 gerstmann syndrome 33.6 PSEN1 PRNP MAPT APOE
7 semantic dementia 33.5 TARDBP PSEN1 MAPT GRN CHMP2B C9orf72
8 agraphia 32.8 TARDBP PRNP MAPT GRN C9orf72
9 apraxia 32.7 PSEN1 MAPT GRN FOXP2 C9orf72 APOE
10 inclusion body myopathy with paget disease of bone and frontotemporal dementia 32.0 TARDBP OPTN GRN CHMP2B C9orf72
11 frontotemporal dementia 31.9 TBK1 TARDBP SNCA PSEN1 PRNP MAPT
12 alexia 31.7 MAPT GRN APOE
13 supranuclear palsy, progressive, 1 31.6 TARDBP SNCA PSEN1 PRNP MAPT LRRK2
14 corticobasal degeneration 31.5 TARDBP MAPT LRRK2
15 pick disease of brain 31.5 TARDBP SNCA PSEN1 PRNP OPTN MAPT
16 dysgraphia 31.5 TARDBP MAPT GRN CHMP2B C9orf72
17 ideomotor apraxia 31.4 TARDBP MAPT GRN
18 amnestic disorder 31.2 PSEN1 BDNF APP APOE
19 speech disorder 31.2 TARDBP MAPT GRN GRIN2A FOXP2 C9orf72
20 visual agnosia 31.1 PSEN1 MAPT GRN APOE
21 echolalia 31.1 MAPT GRN FOXP2 C9orf72
22 brain injury 31.0 MAPT BDNF APOE
23 anosognosia 31.0 C9orf72 APOE
24 posterior cortical atrophy 31.0 MAPT APOE
25 epilepsy 30.9 SRPX2 MAPT GRIN2A GRIN1 BDNF APP
27 tremor 30.9 SNCA MAPT LRRK2
28 dyscalculia 30.8 TARDBP GRN CHMP2B
29 lateral sclerosis 30.8 TBK1 TARDBP OPTN CHMP2B C9orf72
30 creutzfeldt-jakob disease 30.8 SNCA PRNP MAPT BDNF APP APOE
31 meningoencephalitis 30.8 PSEN1 BDNF APP
32 associative agnosia 30.7 TARDBP MAPT GRN CHMP2B C9orf72
33 primary lateral sclerosis, adult, 1 30.7 SNCA MAPT
34 anxiety 30.6 GRIN2A BDNF APP APOE
35 cerebral degeneration 30.6 MAPT L1CAM APP APOE
36 akinetic mutism 30.6 TARDBP PRNP MAPT
37 prosopagnosia 30.6 TARDBP MAPT GRN CHMP2B C9orf72
38 early-onset, autosomal dominant alzheimer disease 30.3 PSEN1 APP
39 simultanagnosia 30.3 MAPT APOE
40 benign epilepsy with centrotemporal spikes 30.3 SRPX2 GRIN2A GRIN1 FOXP2 BDNF
41 multiple system atrophy 1 30.3 SNCA PRNP MAPT LRRK2
42 lrrk2 parkinson disease 30.3 SNCA LRRK2
43 movement disease 30.3 TARDBP SNCA MAPT LRRK2 C9orf72
44 speech and communication disorders 30.3 TARDBP SRPX2 PSEN1 MAPT GRN GRIN2A
45 basal ganglia calcification 30.3 PSEN1 MAPT APP
46 ocular dominance 30.2 GRIN2A GRIN1 BDNF
47 motor neuron disease 30.2 TBK1 TARDBP SNCA OPTN MAPT GRN
48 vascular dementia 30.2 PSEN1 PRNP MAPT GRIN2A APP APOE
49 aceruloplasminemia 30.2 SNCA PSEN1 PRNP MAPT C9orf72 APP
50 leukoencephalopathy, hereditary diffuse, with spheroids 30.2 SNCA PRNP MAPT APP

Graphical network of the top 20 diseases related to Aphasia:

Diseases related to Aphasia

Symptoms & Phenotypes for Aphasia

UMLS symptoms related to Aphasia:

seizures, tremor, fever, dyspnea, edema, cachexia, back pain, vertigo, pain, headache, syncope, scanning speech, cyanosis, chronic pain, sciatica, sore throat, icterus, signs and symptoms, signs and symptoms, digestive, other symbolic dysfunction, hot flushes, vertigo/dizziness, sleeplessness, other symptoms involving head and neck, swelling, mass, or lump in head and neck, aprosodia, aphasic, symptoms involving head and neck, other and unspecified speech disturbances, other speech disturbances, central nervous system signs and symptoms

MGI Mouse Phenotypes related to Aphasia:

45 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.44 APOE APP BDNF C9orf72 CNKSR2 GRIN1
2 cellular MP:0005384 10.34 APOE APP BDNF C9orf72 GRIN1 GRN
3 homeostasis/metabolism MP:0005376 10.32 APOE APP BDNF C9orf72 GRIN1 GRN
4 mortality/aging MP:0010768 10.31 APOE APP BDNF C9orf72 CHMP2B GRIN1
5 growth/size/body region MP:0005378 10.29 APOE APP BDNF C9orf72 GRIN1 GRN
6 nervous system MP:0003631 10.27 APOE APP BDNF C9orf72 CHMP2B GRIN1
7 integument MP:0010771 10.25 APOE APP BDNF C9orf72 GRIN2A GRN
8 hematopoietic system MP:0005397 10.24 APOE APP C9orf72 GRIN1 GRN LRRK2
9 immune system MP:0005387 10.23 APOE APP C9orf72 GRN LRRK2 MAPT
10 no phenotypic analysis MP:0003012 10.17 APOE APP BDNF C9orf72 GRIN1 GRN
11 reproductive system MP:0005389 9.81 APOE APP BDNF GRIN1 GRN L1CAM
12 renal/urinary system MP:0005367 9.8 APOE GRN LRRK2 MAPT PSEN1 SNCA
13 taste/olfaction MP:0005394 9.35 APOE BDNF GRIN1 MAPT SNCA
14 vision/eye MP:0005391 9.28 APOE BDNF CHMP2B GRIN1 GRN L1CAM

Drugs & Therapeutics for Aphasia

Drugs for Aphasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 173)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Levodopa Approved Phase 4 59-92-7 6047
Memantine Approved, Investigational Phase 4 19982-08-2 4054
Carbidopa Approved Phase 4 28860-95-9 34359
Citalopram Approved Phase 4 59729-33-8 2771
tannic acid Approved Phase 4 1401-55-4
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
Topiramate Approved Phase 4 97240-79-4 5284627
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
Atorvastatin Approved Phase 4 134523-00-5 60823
Corticosterone Experimental Phase 4 50-22-6 5753
11 Anticonvulsants Phase 4
12 Sympathomimetics Phase 4
13 Cholinergic Agents Phase 4
14 Excitatory Amino Acid Antagonists Phase 4
15 Excitatory Amino Acids Phase 4
16 Aromatic Amino Acid Decarboxylase Inhibitors Phase 4
17 Carbidopa, levodopa drug combination Phase 4
18 Serotonin Uptake Inhibitors Phase 4
19 Psychotropic Drugs Phase 4
20 Serotonin Agents Phase 4
21 Muscarinic Antagonists Phase 4
22 Cholinergic Antagonists Phase 4
23 Antidepressive Agents Phase 4
24 Parasympatholytics Phase 4
25 Hypoglycemic Agents Phase 4
26 Adjuvants, Immunologic Phase 4
27 Botulinum Toxins Phase 4
28 Hypolipidemic Agents Phase 4
29 Anticholesteremic Agents Phase 4
30 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
31 Antimetabolites Phase 4
32 Lipid Regulating Agents Phase 4
33 abobotulinumtoxinA Phase 4
34 Acetylcholine Release Inhibitors Phase 4
35 Neuromuscular Agents Phase 4
36 Botulinum Toxins, Type A Phase 4
37 Fluorodeoxyglucose F18 Phase 4
38 Anti-Inflammatory Agents Phase 4
39 Pharmaceutical Solutions Phase 4
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
Miglustat Approved Phase 3 72599-27-0 51634
Donepezil Approved Phase 3 120014-06-4 3152
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
Methylprednisolone Approved, Vet_approved Phase 3 83-43-2 6741
Methylprednisolone hemisuccinate Approved Phase 3 2921-57-5
Prednisolone Approved, Vet_approved Phase 3 50-24-8 5755
Prednisolone phosphate Approved, Vet_approved Phase 3 302-25-0
49 Prednisolone acetate Approved, Vet_approved Phase 3 52-21-1
Methylene blue Approved, Investigational Phase 3 61-73-4

Interventional clinical trials:

(show top 50) (show all 403)
# Name Status NCT ID Phase Drugs
1 A 24-Week Pilot, Double-Blind, Randomized, Parallel, Placebo-Controlled Study of Memantine and Constraint-Induced Language Therapy in Chronic Poststroke Aphasia:Correlation With Cognitive Evoked Potentials During Recovery. Unknown status NCT00196703 Phase 4 memantine
2 Dopaminergic Enhancement of Learning and Memory (LL_001, Project on Aphasia) Completed NCT00102869 Phase 4 levodopa
3 Treatment With Donepezil of Chronic Aphasia and Sensorimotor Deficits Associated to Cerebrovascular Accidents: a Double-Blind,Placebo-Controlled, Randomized Parallel Trial. Completed NCT00196690 Phase 4 Donepezil
4 A 24-Week Pilot, Double-Blind, Randomized, Parallel, Placebo-Controlled Study of Memantine and Constraint-Induced Language Therapy in Chronic Poststroke Aphasia:Correlation With Cognitive Evoked Potentials During Recovery. Completed NCT00640198 Phase 4 memantine;memantine;placebo
5 A Prospective, Randomized, Multi-Center, Double-Blind, 26 Week, Placebo-Controlled Trial of Memantine (10mg BID) for the Frontal and Temporal Subtypes of Frontotemporal Dementia Completed NCT00545974 Phase 4 memantine;Placebo pill
6 Effect of Serotonin and Levodopa Functional Recovery in Patients With Cerebral Infarction Completed NCT02386475 Phase 4 citalopram;sinemet plus
7 Serotonergic Function and Behavioural and Psychological Symptoms of Frontotemporal Dementia Completed NCT00376051 Phase 4 Citalopram
8 A Randomized, Pilot Study to Evaluate the Tolerability of OnabotulinumtoxinA Plus Topiramate vs. OnabotulinumtoxinA Plus Placebo and Long Term Effect of Treatment on Cognitive Efficiency and Continuation of Care Completed NCT01700387 Phase 4 onabotulinumtoxinA;Topiramate;Placebo
9 Effects of Early Atorvastatin Treatment During the Acute Phase of Stroke on Immunoinflammatory Markers and Outcome in Patients With Acute Ischemic Stroke Classified as LAAS According TOAST Classification Completed NCT02225834 Phase 4 Atorvastatin
10 Longitudinal Multi-Modality Imaging in Progressive Apraxia of Speech Recruiting NCT01818661 Phase 4 AV-1451
11 Brain Amyloid Imaging With Pittsburgh Compound B in Normal Aging, Mild Cognitive Impairment, and Dementia Enrolling by invitation NCT00950430 Phase 4 Pittsburgh Compound B (C-11 PiB);F-18 FDG;Tau (18-F-AV-1451)
12 A Training and Fidelity Model to Move and Scale Evidence-based Dementia Care and Caregiver Support Programs Into Practice: The Case for COPE in PACE Service Settings Not yet recruiting NCT04165213 Phase 4
13 Randomized, Double Blind, Placebo Controlled, Two Parallel Group Study to Evaluate the Efficacy and Safety of Piracetam, 12 g Intravenous (IV) Infusion Within 7 Hour (h) Post Stroke Onset, Followed by 12 g/d for 4 Weeks (IV Ampoules, Oral Solution) and 4.8 g/d for 8 Weeks (Tablets) in Adult Subjects With an Acute Ischemic Middle Cerebral Artery Stroke Terminated NCT01883011 Phase 4 Piracetam
14 Amantadine for the Treatment of Behavioral Disturbance in Frontotemporal Dementia (FTD) Withdrawn NCT00127114 Phase 4 Amantadine;Placebo
15 COGNITIVE - Comparison of Cognitive Function After Sevoflurane or Propofol Anesthesia for Open-heart Operations Withdrawn NCT00541918 Phase 4 Diprivan (propofol, Astra Zeneca);Sevorane (sevoflurane, Abbott)
16 Improvement of Aphasia After Stroke by Intensive Training and Transcranial Direct Current Stimulation Unknown status NCT00822068 Phase 2, Phase 3
17 Effects of Repetitive Magnetic Transcranial Stimulation of Low Frequency on Speech Production in Patients With Non-fluent Aphasia Post-ischemic Stroke Unknown status NCT02241213 Phase 3
18 Augmenting Language Therapy for Aphasia: A Randomized Double-Blind Placebo-Controlled Trial of Levodopa in Combination With Speech-Language Therapy Completed NCT01429077 Phase 2, Phase 3 levodopa/carbidopa;Placebo comparator
19 Application of Miglustat in Patients With Niemann-Pick Type C Completed NCT01760564 Phase 3 Miglustat
20 A Double-Blind, Placebo-Controlled, Randomized, Parallel Group, 12-Month Safety and Efficacy Trial of TRx0237 in Subjects With Behavioral Variant Frontotemporal Dementia (bvFTD) Completed NCT01626378 Phase 3 TRx0237;Placebo
21 An Open Label Pilot Study of the Effects of Memantine Administration on FDG-PET in Frontotemporal Dementia Completed NCT00594737 Phase 3 memantine hydrochloride
22 Behavioral and Neural Correlates of Melodic-Intonation-Therapy (MIT) and Speech-Repetition-Therapy (SRT) for Patients With Non-fluent Aphasia Recruiting NCT00903266 Phase 3
23 Effects of Combining Donepezil, Intensive Language Rehabilitation and Transcranial Direct Current Stimulation on Language Recovery and Brain Reorganization in Chronic Post-stroke Aphasia Recruiting NCT04134416 Phase 3 Donepezil
24 The Role of Palliative Care Interventions to Reduce Circadian Rhythm Disorders in Persons With Dementia: The Healthy Patterns Study Recruiting NCT03682185 Phase 3
25 Effects of Intraoperative Local Steroid Utilization in a Single-Level Minimally Invasive Transforaminal Lumbar Interbody Fusion Active, not recruiting NCT03308084 Phase 3 Methylprednisolone;Dexamethasone
26 Multicenter Study of Non-invasive Repetitive Paraorbital Alternating Current Stimulation of the Brain: Therapy for Aphasy Terminated NCT01277575 Phase 3
27 An Open-Label, Extension Study of the Effects of TRx0237 in Subjects With Alzheimer's Disease or Behavioral Variant Frontotemporal Dementia (bvFTD) Terminated NCT02245568 Phase 3 TRx0237
28 Chronic Aphasia - Improved by Intensive Training and Electrical Brain Stimulation (CATS) Unknown status NCT01924702 Phase 2
29 Chronic Aphasia - Improved by Intensive Training and Electrical Brain Unknown status NCT01221779 Phase 2
30 A Randomized, Double-Blind, Placebo-Controlled, Dose-Escalating, Phase 2a Safety, Tolerability, and Pharmacodynamic Study of Two Doses of an Histone Deacetylase Inhibitor (FRM-0334) in Subjects With Prodromal to Moderate Frontotemporal Dementia With Granulin Mutation Unknown status NCT02149160 Phase 2 FRM-0334;Placebo
31 Effectiveness of Rehabilitation (Phasic Alerting and Visual Spatial Scanning Training) on the Recovery of Patients Post Right Stroke With Unilateral Spatial Neglect: Using Functional Imaging PET and Standardized Neurobehavioral and Functional Tests Unknown status NCT00305513 Phase 2
32 Transcranial Direct Current Stimulation and Aphasia Treatment Outcomes Completed NCT01686373 Phase 2
33 Treating Intention In Aphasia: Neuroplastic Substrates Completed NCT00567242 Phase 1, Phase 2
34 Effect Of Verb Network Strengthening Treatment on Lexical Retrieval in Aphasia Completed NCT01300624 Phase 2
35 Psychosocial Wellbeing Following Stroke: Developing and Testing a Psychosocial Nursing Intervention for Primary Care Completed NCT01912014 Phase 1, Phase 2
36 A Study Evaluating the Imaging Characteristics of Florbetapir 18F (18F-AV-45) in Patients With Frontotemporal Dementia Compared to Patients With Alzheimer's Disease and Normal Controls. Completed NCT01890343 Phase 2 florbetapir 18F;18F-FDG
37 Transcranial Direct Current Stimulation and Melodic Intonation Therapy Combined With Dextroamphetamine in Chronic Stroke Patients With Non-fluent Aphasia; Safety and Efficacy Phase Completed NCT02514044 Phase 2 Dexedrine;Placebo
38 An Open Pilot Study to Evaluate the Safety and Efficacy of Galantamine in the Treatment of Pick's Disease/Frontotemporal Dementia /Pick Complex Completed NCT00416169 Phase 2 galantamine hydrobromide
39 Impact of Emotional Mimicry and Oxytocin on Frontotemporal Dementia Completed NCT01937013 Phase 2 Intranasal oxytocin;Saline Nasal Mist
40 A Feasibility Trial to Evaluate the MindFrame System in the Recanalization of Occluded Vessels in Patients Experiencing an Ischemic Stroke Completed NCT00810095 Phase 2
41 Tau PET Imaging With 18F-AV-1451 in Subjects With MAPT Mutations Completed NCT02676843 Phase 2 18F-AV-1451
42 Open-label, Exploratory Study of the Efficacy of Repetitive Transcranial Magnetic Stimulation on Naming and Verbal Fluency in Patients With Alzheimer's Disease With Functional Imaging Correlates Completed NCT00814697 Phase 2
43 Double-blind, Parallel Group, Placebo-controlled Trial of the Efficacy and Tolerability of Memantine (20 mg) in Frontotemporal Dementia (FTD) Patients Completed NCT00200538 Phase 2 memantine
44 Phase I/II Trial Of Hematopoietic Stem Cell Transplant (HSCT) For Children With A Genetic Disease Of Blood Cells Without An HLA-Matched Sibling Donor Completed NCT00730314 Phase 1, Phase 2
45 Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1 Completed NCT02124083 Phase 1, Phase 2 Vorinostat
46 Investigation of the Dopamine System in Frontotemporal Dementia Completed NCT00604591 Phase 2 Tolcapone;Placebo
47 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
48 Targeted Transcranial Electrotherapy for Stroke Rehabilitation - Exploratory Trial on Aphasia Recruiting NCT02540109 Phase 2
49 A Phase II, Randomized Blinded Study of the Effects of Transcranial Magnetic Stimulation and Constraint Induced Language Therapy for the Treatment of Chronic Aphasia Recruiting NCT03651700 Phase 2
50 A Phase 2 Clinical Trial of Intranasal Oxytocin for Frontotemporal Dementia Recruiting NCT03260920 Phase 2 Syntocinon

Search NIH Clinical Center for Aphasia

Cochrane evidence based reviews: aphasia

Genetic Tests for Aphasia

Anatomical Context for Aphasia

MalaCards organs/tissues related to Aphasia:

Brain, Testes, Cortex, Temporal Lobe, Eye, Liver, Heart

Publications for Aphasia

Articles related to Aphasia:

(show top 50) (show all 12512)
# Title Authors PMID Year
Effects of a short educational program about aphasia (SEPA) on the burden and quality of life of family caregivers of people with aphasia. 61 42
31483043 2019
Assessment of the quality and content of clinical practice guidelines for post-stroke rehabilitation of aphasia. 61 42
31374031 2019
Evaluation of a community of practice for speech-language pathologists in aphasia rehabilitation: a logic analysis. 61 42
31358002 2019
Phenomenology and anatomy of abnormal behaviours in primary progressive aphasia. 54 61
20400120 2010
Expanding the phenotypic spectrum of L1CAM-associated disease. 54 61
16650080 2006
First case of L1CAM gene mutation identified in MASA syndrome in Asia. 54 61
15904436 2005
A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS). 54 61
9643285 1998
Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis. 54 61
9744477 1998
L1CAM mutation in a Japanese family with X-linked hydrocephalus: a study for genetic counseling. 54 61
9440802 1997
Thalamic nuclei in frontotemporal dementia: Mediodorsal nucleus involvement is universal but pulvinar atrophy is unique to C9orf72. 61
31696638 2020
The role of semantic memory in the recognition of emotional valence conveyed by written words. 61
31088253 2020
Advanced multimodality neuroimaging of a giant, thrombosed MCA aneurysm complicated by an acute stroke in a pediatric patient. 61
31956390 2020
Further Study of the Effects of Treatment Intensity on Outcomes of Sound Production Treatment for Acquired Apraxia of Speech: Does Dose Frequency Matter? 61
32011909 2020
Multimodal 18F-AV-1451 and MRI Findings in Nonfluent Variant of Primary Progressive Aphasia: Possible Insights on Nodal Propagation of Tau Protein Across the Syntactic Network. 61
31350322 2020
Impaired coherence for semantic but not episodic autobiographical memory in semantic variant primary progressive aphasia. 61
31760339 2020
Progression of behavioural disturbances in frontotemporal dementia: a longitudinal observational study. 61
31448481 2020
Brain Damage Associated with Impaired Sentence Processing in Acute Aphasia. 61
31596169 2020
Can gesture observation help people with aphasia name actions? 61
31760340 2020
A meta-analysis of poststroke depression risk factors comparing depressive-related factors versus others. 61
32014074 2020
Evidence-based guidelines on the therapeutic use of repetitive transcranial magnetic stimulation (rTMS): An update (2014-2018). 61
31901449 2020
Preoperative functional MRI use in neurooncology patients: a clinician survey. 61
32006949 2020
Charlie Chaplin and gesture training in severe aphasia: a randomized double-blind single-case experimental design. 61
32032804 2020
Single Word Repetition Predicts Long-Term Outcome of Aphasia Caused by an Ischemic Stroke. 61
31836358 2020
"Living in a foreign country": experiences of staff-patient communication in inpatient stroke settings for people with post-stroke aphasia and those supporting them. 61
30261762 2020
Setting the midpoint of sentences: The role of the left hemisphere. 61
31863803 2020
Task-Free Functional Language Networks: Reproducibility and Clinical Application. 61
31852732 2020
Cortical stimulation in aphasia following ischemic stroke: toward model-guided electrical neuromodulation. 61
32020368 2020
An interesting case of expressive aphasia: Enterococcus faecalis-related infective endocarditis complicating as septic emboli. 61
31268537 2020
Effects of prosody on the cognitive and neural resources supporting sentence comprehension: A behavioral and lesion-symptom mapping study. 61
32032865 2020
Repetitive transcranial magnetic stimulation for management of post-stroke impairments: An overview of systematic reviews. 61
31922207 2020
The potential effects of transcranial direct current stimulation (tDCS) on language functioning: Combining neuromodulation and behavioral intervention in aphasia. 61
29289680 2020
Baseline MRI associates with later naming status in primary progressive aphasia. 61
31864209 2020
Differences in neuroimaging features of early- versus late-onset nonfluent/agrammatic primary progressive aphasia. 61
31784276 2020
A case of TDP-43 type C pathology presenting as nonfluent variant primary progressive aphasia. 61
31747857 2020
The Nonverbal Processing of Actions Is an Area of Relative Strength in the Semantic Variant of Primary Progressive Aphasia. 61
32013713 2020
The Cincinnati Prehospital Stroke Scale Compared to Stroke Severity Tools for Large Vessel Occlusion Stroke Prediction. 61
32017644 2020
Delayed Rebleeding from Pseudoaneurysm After Mechanical Thrombectomy Using Stent Retriever Due to Small Artery Avulsion Confirmed by Open Surgery. 61
31589986 2020
Transient neurological deterioration due to watershed shift after STA-MCA bypass surgery in acute atherosclerotic occlusion. 61
31987633 2020
Decline in drawing ability and cerebral perfusion in Parkinson's disease patients after subthalamic nucleus deep brain stimulation surgery. 61
31865064 2020
Disruption of Frontal Aslant Tract Is Not Associated with Long-Term Postoperative Language Deficits. 61
31574328 2020
Endovascular Treatment of Spontaneous Internal Carotid Artery Dissection with Proximal Embolic Protection Device. 61
31904520 2020
Cerebral arterial air embolism secondary to iatrogenic left atrial-esophageal fistula: a case report. 61
31926563 2020
Patients with MELAS with negative myopathology for characteristic ragged-red fibers. 61
31726383 2020
Delay in diagnosing patients with right-sided glioblastoma induced by hemispheric-specific clinical presentation. 61
31713017 2020
Differential neurocognitive network perturbation in amnestic and aphasic Alzheimer disease. 61
31969462 2020
Auditory Agnosia for Environmental Sounds in Alzheimer's Disease: Not Hearing and Not Listening? 61
31958091 2020
The Landscape Montage Technique for diagnosing frontotemporal dementia starting as primary progressive aphasia: a case report. 61
31915061 2020
Physiological, behavioral, and subjective sadness reactivity in frontotemporal dementia subtypes. 61
31993653 2020
A multi-disciplinary clinic for SCN8A-related epilepsy. 61
31887642 2020
How biological elements interact with language: The biolinguistic inquiry. 61
31585924 2020

Variations for Aphasia

ClinVar genetic disease variations for Aphasia:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 46;XY;t(12;14)(q15;q13)matTranslocation Uncertain significance 267936

Expression for Aphasia

Search GEO for disease gene expression data for Aphasia.

Pathways for Aphasia

GO Terms for Aphasia

Cellular components related to Aphasia according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.44 TBK1 TARDBP SRPX2 SNCA PSEN1 PRNP
2 extracellular space GO:0005615 10.24 SRPX2 SNCA LRRK2 GRN C9orf72 BDNF
3 Golgi apparatus GO:0005794 10.19 SNCA PSEN1 PRNP OPTN LRRK2 GRN
4 cell projection GO:0042995 10.14 PSEN1 MAPT LRRK2 L1CAM GRIN2A C9orf72
5 cell junction GO:0030054 10.11 SRPX2 SNCA PSEN1 LRRK2 GRIN2A GRIN1
6 synapse GO:0045202 10.11 SRPX2 SNCA PSEN1 LRRK2 GRIN2A GRIN1
7 cytoplasmic vesicle GO:0031410 10.1 PSEN1 OPTN LRRK2 GRIN2A C9orf72 BDNF
8 endosome GO:0005768 10.05 PSEN1 OPTN LRRK2 GRN CHMP2B C9orf72
9 cell surface GO:0009986 10.04 SRPX2 PSEN1 PRNP L1CAM GRIN2A GRIN1
10 lysosome GO:0005764 10.01 SNCA LRRK2 GRN CHMP2B C9orf72
11 cell GO:0005623 10 SNCA PSEN1 PRNP MAPT LRRK2 GRN
12 neuronal cell body GO:0043025 9.98 SNCA PSEN1 MAPT LRRK2 L1CAM CNKSR2
13 postsynaptic density GO:0014069 9.97 PRNP GRIN2A GRIN1 CNKSR2 CHMP2B
14 neuron projection GO:0043005 9.97 PSEN1 MAPT LRRK2 GRIN2A GRIN1 CNKSR2
15 membrane raft GO:0045121 9.95 PSEN1 PRNP MAPT LRRK2 APP
16 glutamatergic synapse GO:0098978 9.95 LRRK2 GRIN2A GRIN1 CNKSR2 CHMP2B APOE
17 axon GO:0030424 9.92 SNCA PSEN1 MAPT LRRK2 L1CAM C9orf72
18 dendritic spine GO:0043197 9.89 MAPT GRIN2A GRIN1 APP
19 dendrite GO:0030425 9.81 PSEN1 PRNP MAPT LRRK2 L1CAM GRIN1
20 rough endoplasmic reticulum GO:0005791 9.79 SNCA PSEN1 APP
21 terminal bouton GO:0043195 9.78 SNCA LRRK2 GRIN1
22 synaptic membrane GO:0097060 9.71 SRPX2 PSEN1 GRIN2A GRIN1
23 inclusion body GO:0016234 9.7 SNCA PRNP LRRK2
24 synaptic cleft GO:0043083 9.64 GRIN1 APOE
25 ciliary rootlet GO:0035253 9.63 PSEN1 APP
26 main axon GO:0044304 9.63 MAPT C9orf72 APP
27 NMDA selective glutamate receptor complex GO:0017146 9.62 GRIN2A GRIN1
28 growth cone GO:0030426 9.5 SNCA PSEN1 MAPT LRRK2 L1CAM C9orf72
29 synaptic vesicle GO:0008021 9.17 SNCA PSEN1 LRRK2 GRIN2A GRIN1 BDNF

Biological processes related to Aphasia according to GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 10 SNCA PSEN1 APP APOE
2 regulation of gene expression GO:0010468 10 TBK1 PSEN1 LRRK2 APP APOE
3 negative regulation of gene expression GO:0010629 9.97 TBK1 TARDBP PSEN1 MAPT APP APOE
4 autophagy GO:0006914 9.96 PSEN1 OPTN LRRK2 CHMP2B C9orf72
5 neuron projection development GO:0031175 9.94 MAPT L1CAM APP APOE
6 cellular calcium ion homeostasis GO:0006874 9.91 PSEN1 GRIN1 APOE
7 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.89 TBK1 SNCA APP
8 calcium-mediated signaling GO:0019722 9.89 LRRK2 GRIN2A GRIN1
9 cerebral cortex development GO:0021987 9.88 PSEN1 GRIN1 FOXP2
10 regulation of autophagy GO:0010506 9.88 MAPT LRRK2 C9orf72
11 forebrain development GO:0030900 9.87 PSEN1 FOXP2 APP
12 positive regulation of protein binding GO:0032092 9.87 PSEN1 LRRK2 APP
13 learning GO:0007612 9.87 GRIN2A GRIN1 APP
14 negative regulation of neuron death GO:1901215 9.85 SNCA LRRK2 APOE
15 excitatory postsynaptic potential GO:0060079 9.85 SNCA LRRK2 GRIN2A GRIN1
16 response to oxidative stress GO:0006979 9.85 PSEN1 PRNP LRRK2 APP APOE
17 adult locomotory behavior GO:0008344 9.83 SNCA GRIN1 APP
18 visual learning GO:0008542 9.83 GRIN2A GRIN1 APP
19 regulation of synaptic plasticity GO:0048167 9.83 PSEN1 MAPT GRIN2A GRIN1
20 memory GO:0007613 9.83 PSEN1 MAPT GRIN2A GRIN1 BDNF
21 positive regulation of neuron death GO:1901216 9.82 SNCA PRNP MAPT
22 long-term memory GO:0007616 9.81 PRNP GRIN1 APOE
23 regulation of NMDA receptor activity GO:2000310 9.8 GRIN2A GRIN1 APP
24 microglial cell activation GO:0001774 9.8 SNCA MAPT APP
25 negative regulation of neuron apoptotic process GO:0043524 9.8 SNCA PSEN1 GRN GRIN1 BDNF APOE
26 cellular response to copper ion GO:0071280 9.79 SNCA PRNP APP
27 ionotropic glutamate receptor signaling pathway GO:0035235 9.77 GRIN2A GRIN1 APP
28 regulation of long-term neuronal synaptic plasticity GO:0048169 9.77 SNCA GRIN1 APP
29 regulation of neuronal synaptic plasticity GO:0048168 9.76 SNCA GRIN1 APOE
30 regulation of neuron death GO:1901214 9.75 TBK1 SNCA LRRK2
31 astrocyte activation GO:0048143 9.74 PSEN1 MAPT APP
32 stress granule assembly GO:0034063 9.73 MAPT C9orf72
33 startle response GO:0001964 9.73 GRIN2A GRIN1
34 positive regulation of receptor recycling GO:0001921 9.73 SNCA PSEN1
35 axon development GO:0061564 9.73 MAPT L1CAM
36 dopamine metabolic process GO:0042417 9.73 SNCA GRIN2A
37 negative regulation of protein processing GO:0010955 9.73 PRNP LRRK2
38 cellular copper ion homeostasis GO:0006878 9.72 PRNP APP
39 negative regulation of amyloid-beta formation GO:1902430 9.72 PRNP APOE
40 supramolecular fiber organization GO:0097435 9.72 SNCA MAPT
41 suckling behavior GO:0001967 9.72 GRIN1 APP
42 amyloid fibril formation GO:1990000 9.71 MAPT APP
43 locomotory exploration behavior GO:0035641 9.71 LRRK2 APOE
44 amyloid precursor protein metabolic process GO:0042982 9.71 PSEN1 APOE
45 negative regulation of long-term synaptic potentiation GO:1900272 9.71 PRNP APP APOE
46 cellular response to manganese ion GO:0071287 9.7 LRRK2 APP
47 excitatory chemical synaptic transmission GO:0098976 9.69 GRIN2A GRIN1
48 neuron projection maintenance GO:1990535 9.69 PSEN1 PRNP APP
49 regulation of mitochondrial fission GO:0090140 9.68 MAPT LRRK2
50 intracellular distribution of mitochondria GO:0048312 9.68 MAPT LRRK2

Molecular functions related to Aphasia according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.96 TBK1 TARDBP SRPX2 SNCA PSEN1 PRNP
2 microtubule binding GO:0008017 9.76 SNCA PRNP MAPT LRRK2
3 chaperone binding GO:0051087 9.69 PRNP MAPT GRN
4 calcium channel activity GO:0005262 9.67 PSEN1 GRIN2A GRIN1
5 tubulin binding GO:0015631 9.54 PRNP MAPT LRRK2
6 ionotropic glutamate receptor activity GO:0004970 9.48 GRIN2A GRIN1
7 amyloid-beta binding GO:0001540 9.46 PRNP GRIN2A GRIN1 APOE
8 lipoprotein particle binding GO:0071813 9.43 MAPT APOE
9 NMDA glutamate receptor activity GO:0004972 9.4 GRIN2A GRIN1
10 identical protein binding GO:0042802 9.4 TBK1 TARDBP SRPX2 SNCA PRNP OPTN
11 cuprous ion binding GO:1903136 9.32 SNCA PRNP
12 glutamate-gated calcium ion channel activity GO:0022849 9.26 GRIN2A GRIN1

Sources for Aphasia

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
Loading form....