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MCID: SPC031
MIFTS: 36

Specific Learning Disability

Categories: Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways
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Aliases & Classifications for Specific Learning Disability

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MalaCards integrated aliases for Specific Learning Disability:

Name: Specific Learning Disability 58 29 6
Specific Learning Difficulty 58
Specific Learning Disorder 58

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
Orphanet: 58  
Rare neurological diseases


External Ids:

Orphanet 58 ORPHA211047
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Summaries for Specific Learning Disability

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MalaCards based summary : Specific Learning Disability, also known as specific learning difficulty, is related to alacrima, achalasia, and mental retardation syndrome and microcephaly. An important gene associated with Specific Learning Disability is MAPK1 (Mitogen-Activated Protein Kinase 1), and among its related pathways/superpathways are MAPK signaling pathway and EGF/EGFR Signaling Pathway. Affiliated tissues include brain and eye, and related phenotypes are growth/size/body region and behavior/neurological

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Related Diseases for Specific Learning Disability

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Diseases related to Specific Learning Disability via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 28.9 TBC1D24 RPS6KA3 NF1 MAPK1 IQSEC2 CACNA1A
2 microcephaly 28.8 TBC1D24 PTPN11 NF1 MAPK1 IQSEC2 ADAR
3 learning disability 28.1 TBC1D24 SYNE2 RYR1 RPS6KA3 PTPN11 OTUD7A
4 dysgraphia 11.1
5 dyslexia 10.3
6 attention deficit-hyperactivity disorder 10.3
7 dyscalculia 10.2
8 keratosis pilaris atrophicans faciei 10.2 PTPN11 NF1
9 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 10.2
10 skin granular cell tumor 10.1 PTPN11 NF1
11 gliofibroma 10.1 PTPN11 NF1
12 cardiofaciocutaneous syndrome 1 10.0 PTPN11 NF1 MAPK1
13 legius syndrome 10.0 PTPN11 NF1
14 autism spectrum disorder 10.0
15 rasopathy 9.9 PTPN11 NF1 MAPK1 BBIP1
16 neurofibromatosis 9.9
17 seizure disorder 9.9
18 coronary ostial stenosis or atresia 9.9
19 autism 9.9
20 phobia, specific 9.9
21 oppositional defiant disorder 9.9
22 common cold 9.9
23 conduct disorder 9.9
24 reading disorder 9.9
25 neonatal jaundice 9.9
26 benign epilepsy with centrotemporal spikes 9.9
27 mutism 9.9
28 sleep disorder 9.9
29 developmental coordination disorder 9.9
30 elective mutism 9.9
31 brain injury 9.9
32 developmental dyspraxia 9.9
33 traumatic brain injury 9.9
34 neurofibromatosis-noonan syndrome 9.8 PTPN11 NF1
35 noonan syndrome 1 9.8 PTPN11 NF1 MAPK1 GHR
36 dravet syndrome 9.8 TBC1D24 IQSEC2 CACNA1A
37 familial periodic paralysis 9.8 RYR1 CACNA1A
38 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.5 RYR1 NF1 CACNA1A
39 autosomal genetic disease 9.4 RYR1 NF1 CACNA1A
40 scoliosis 9.4 RYR1 RPS6KA3 PTPN11 NF1 GHR
41 disease of mental health 9.1 TBC1D24 RPS6KA3 PTPN11 NF1 MAPK1 IQSEC2

Graphical network of the top 20 diseases related to Specific Learning Disability:



Diseases related to Specific Learning Disability
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Symptoms & Phenotypes for Specific Learning Disability

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MGI Mouse Phenotypes related to Specific Learning Disability:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.3 ADAR BBIP1 CACNA1A GHR IQSEC2 KMT2B
2 behavior/neurological MP:0005386 10.26 BBIP1 CACNA1A GHR IQSEC2 MAPK1 NF1
3 cardiovascular system MP:0005385 10.25 ADAR GHR KMT2B MAPK1 MED13 NF1
4 cellular MP:0005384 10.19 ADAR CACNA1A GHR KMT2B MAPK1 NF1
5 mortality/aging MP:0010768 10.18 ADAR BBIP1 CACNA1A GHR IQSEC2 KMT2B
6 nervous system MP:0003631 10.07 ADAR BBIP1 CACNA1A GHR IQSEC2 KMT2B
7 integument MP:0010771 10.03 CACNA1A GHR MAPK1 NF1 PTPN11 RPS6KA3
8 adipose tissue MP:0005375 10.01 GHR KMT2B MED13 PTPN11 RPS6KA3 RYR1
9 liver/biliary system MP:0005370 10.01 ADAR GHR KMT2B MAPK1 MED13 NF1
10 craniofacial MP:0005382 9.95 MAPK1 NF1 OTUD7A PTPN11 RPS6KA3 RYR1
11 muscle MP:0005369 9.92 CACNA1A GHR MAPK1 NF1 PTPN11 RPS6KA3
12 reproductive system MP:0005389 9.76 BBIP1 CACNA1A GHR KMT2B MAPK1 NF1
13 respiratory system MP:0005388 9.5 CACNA1A MAPK1 NF1 PTPN11 RPS6KA3 RYR1
14 skeleton MP:0005390 9.23 ADAR GHR MAPK1 NF1 OTUD7A PTPN11
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Drugs & Therapeutics for Specific Learning Disability

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Development of a Resiliency Training Program for Parents of Children With Specific Learning Disabilities Completed NCT02772432
2 Sensitivity of the Search for a Heterophory-Vertical-Labile (HV-Labile) for Ambulatory Screening for Specific Learning Disabilities (SLD) or Developmental Coordination Disorder (DCD). Recruiting NCT04122820
3 Severe LD in Juvenile Delinquents: Presentation, Course, and Remediation Recruiting NCT03261076
4 Assessment of the Diagnostic Approach to Specific Language Disorders and Learning Using a New Calibrated Tool: the Modular Battery Tests Computerized (BMTi) Recruiting NCT03919357

Search NIH Clinical Center for Specific Learning Disability

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Genetic Tests for Specific Learning Disability

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Genetic tests related to Specific Learning Disability:

# Genetic test Affiliating Genes
1 Specific Learning Disability 29
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Anatomical Context for Specific Learning Disability

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MalaCards organs/tissues related to Specific Learning Disability:

40
Brain, Eye
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Publications for Specific Learning Disability

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Articles related to Specific Learning Disability:

(show top 50) (show all 253)
# Title Authors PMID Year
1
Magnitude Comparisons, Number Knowledge and Calculation in VeryPreterm Children and Children With Specific Learning Disability: A Cross-Population Study Using Eye-Tracking. 61
32814504 2021
2
Self-efficacy and psychological well-being in a sample of Italian university students with and without Specific Learning Disorder. 61
33465731 2021
3
Cognitive differences between adults with traumatic brain injury and specific learning disorder. 61
33523722 2021
4
Specific learning disability in the context of current diagnostic systems and policies in India: Implications for assessment and certification. 61
33310687 2021
5
Neurodevelopmental disorders among Spanish school-age children: prevalence and sociodemographic correlates. 61
33436129 2021
6
The nature of the risk faced by pedestrians with neurodevelopmental disorders: A systematic review. 61
33248701 2021
7
Arithmetic processing in children with dyscalculia: an event-related potential study. 61
33569247 2021
8
Children at risk for dyslexia show deficient left-hemispheric memory representations for new spoken word forms. 61
33454404 2021
9
Elementary visuospatial perception deficit in children with neurodevelopmental disorders. 61
33314050 2020
10
Priorities in the Interdisciplinary Approach of Specific Learning Disorders (SLD) in Children with Type I Diabetes Mellitus (T1DM). From Theory to Practice. 61
33374577 2020
11
A retrospective investigation of the added clinical value of SCT symptoms on neuropsychological assessments in youth with ADHD. 61
33243064 2020
12
Learning Disorder Confers Setting-Specific Treatment Resistance for Children with ADHD, Predominantly Inattentive Presentation. 61
31433688 2020
13
[Intelligence structure and clinical features of school-age children with attention deficit hyperactivity disorder and specific learning disorder]. 61
33172551 2020
14
Do children have Bayesian intuitions? 61
33119349 2020
15
Long-term melatonin treatment for the sleep problems and aberrant behaviors of children with neurodevelopmental disorders. 61
32912180 2020
16
Validation and diagnostic accuracy of coin rotation task for manual dexterity and coordination in children with specific learning disorder. 61
32878495 2020
17
The prevalence and comorbidity rates of specific learning disorder among primary school children in Turkey. 61
32186228 2020
18
Reliability and Preliminary Outcomes of a Protocol for Selection of Test Accommodations for Higher Education Students With Dysgraphia: A Pilot Study. 61
32602447 2020
19
Using Video-Based Instruction via Augmented Reality to Teach Mathematics to Middle School Students With Learning Disabilities. 61
32065040 2020
20
Salivary cortisol and alpha-amylase daily profiles and stress responses to an academic performance test and a moral cognition task in children with neurodevelopmental disorders. 61
32608561 2020
21
Facial Emotion Recognition in Children and Adolescents with Specific Learning Disorder. 61
32717966 2020
22
Similarities and differences in psycho-educational assessments of adolescents with specific language impairments and specific learning disabilities: A challenging differential diagnosis. 61
33099464 2020
23
The Importance of Speech-Language Pathologists' Explicit Knowledge of Morphology. 61
32692963 2020
24
Identifying schizophrenia patients who carry pathogenic genetic copy number variants using standard clinical assessment: retrospective cohort study. 61
31964429 2020
25
Development of a Battery to Assess Perceptual-Motor, Cognition, Language, and Scholastic Skills among Bengali Children with Neuro Developmental Disorders. 61
32612328 2020
26
The Prevalence of Specific Learning Disorder among School-going Children in Ernakulam District, Kerala, India: Ernakulam Learning Disorder (ELD) Study. 61
32612329 2020
27
Sleep disturbances in specific learning disorders: a qualitative and quantitative investigation. 61
32241099 2020
28
Study of functional magnetic resonance imaging (fMRI) in children and adolescents with specific learning disorder (dyslexia). 61
32086175 2020
29
Specific Learning Disability Unmasked by Psychophysiological Insomnia. 61
32351858 2020
30
Clinically Historical and Prospective Associations Between Learning Disorders and Concussion in Young Adult Athletes. 61
32231484 2020
31
Panel 5: Impact of otitis media on quality of life and development. 61
31883704 2020
32
Normal variability within a collegiate athlete sample: A rationale for comprehensive baseline testing. 61
32191157 2020
33
Prevalence estimates of neurodevelopmental disorders in Japan: A community sample questionnaire study. 61
31657492 2020
34
Disorder of written expression and dysgraphia: definition, diagnosis, and management. 61
32206583 2020
35
The role of ADHD symptoms in the relationship between academic achievement and psychopathological symptoms. 61
31884314 2020
36
Specific Learning Disability in India: Challenges and Opportunities. 61
31900846 2020
37
Children 'At Risk' of Developing Specific Learning Disability in Primary Schools. 61
31865523 2020
38
Participation in Everyday Activities of Children with and without Specific Learning Disorder. 61
31928288 2020
39
Serum Brain-Derived Neurotrophic Factor (BDNF) Level in Children with Specific Learning Disabilities. 61
32978954 2020
40
Predicting risk of dyslexia with an online gamified test. 61
33264301 2020
41
Developmental dyslexia: A new look at clinical features and brain mechanisms. 61
32977895 2020
42
Impaired large numerosity estimation and intact subitizing in developmental dyscalculia. 61
33382740 2020
43
Students with specific learning disabilities experiences of pre-registration physiotherapy education: a qualitative study. 61
31892332 2019
44
Sleep-related rhythmic movements and rhythmic movement disorder beyond early childhood. 61
31683092 2019
45
[Executive function deficits and neurodevelopmental disorders in childhood and adolescence]. 61
31762001 2019
46
The Effectiveness of Web-Based Interventions Delivered to Children and Young People With Neurodevelopmental Disorders: Systematic Review and Meta-Analysis. 61
31682573 2019
47
Post-weaning social isolation of mice: A putative animal model of developmental disorders. 61
31708401 2019
48
Differences in specific learning disability identification with the Woodcock-Johnson IV. 61
31697146 2019
49
Comorbidity in Specific Learning Disorder: Issues in Assessment. 61
31853167 2019
50
Psychiatric Comorbidities in Children with Specific Learning Disorder-Mixed Type: A Cross-sectional Study. 61
31844375 2019
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Variations for Specific Learning Disability

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ClinVar genetic disease variations for Specific Learning Disability:

6 (show all 23)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NF1 NM_000267.3(NF1):c.7419G>A (p.Trp2473Ter) SNV Pathogenic 216067 rs863224493 17:29679299-29679299 17:31352281-31352281
2 PTPN11 NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) SNV Pathogenic 40554 rs397507542 12:112926873-112926873 12:112489069-112489069
3 MAPK1 NM_002745.5(MAPK1):c.221T>A (p.Ile74Asn) SNV Pathogenic 917742 22:22162034-22162034 22:21807745-21807745
4 MAPK1 NM_002745.5(MAPK1):c.238C>T (p.His80Tyr) SNV Pathogenic 917743 22:22162017-22162017 22:21807728-21807728
5 MAPK1 NM_002745.5(MAPK1):c.521C>T (p.Ala174Val) SNV Pathogenic 917744 22:22153389-22153389 22:21799100-21799100
6 MAPK1 NM_002745.5(MAPK1):c.952G>A (p.Asp318Asn) SNV Pathogenic 917745 22:22127176-22127176 22:21772887-21772887
7 MAPK1 NM_002745.5(MAPK1):c.953A>G (p.Asp318Gly) SNV Pathogenic 917746 22:22127175-22127175 22:21772886-21772886
8 MAPK1 NM_002745.5(MAPK1):c.964G>C (p.Glu322Gln) SNV Pathogenic 917748 22:22127164-22127164 22:21772875-21772875
9 MAPK1 NM_002745.5(MAPK1):c.968C>G (p.Pro323Arg) SNV Pathogenic 917749 22:22123608-22123608 22:21769319-21769319
10 OTUD7A NM_001382637.1(OTUD7A):c.697C>T (p.Leu233Phe) SNV Pathogenic 983496 15:31819467-31819467 15:31527264-31527264
11 GHR NM_000163.5(GHR):c.718T>C (p.Tyr240His) SNV Pathogenic 198398 rs143814221 5:42711408-42711408 5:42711306-42711306
12 BBIP1 NM_001195307.1(BBIP1):c.38-1015C>T SNV Pathogenic 626905 rs1590746439 10:112661299-112661299 10:110901541-110901541
13 KMT2B NM_014727.3(KMT2B):c.3143_3149del (p.Gly1048fs) Deletion Pathogenic 813003 rs1599677213 19:36214713-36214719 19:35723812-35723818
14 TBC1D24 NM_001199107.2(TBC1D24):c.605C>T (p.Ser202Leu) SNV Likely pathogenic 207501 rs796053400 16:2546754-2546754 16:2496753-2496753
15 TBC1D24 NM_001199107.2(TBC1D24):c.901C>T (p.Gln301Ter) SNV Likely pathogenic 812998 rs1596969013 16:2547050-2547050 16:2497049-2497049
16 RPS6KA3 NM_004586.3(RPS6KA3):c.533C>G (p.Ala178Gly) SNV Likely pathogenic 374121 rs1057518914 X:20211665-20211665 X:20193547-20193547
17 IQSEC2 NM_001111125.3(IQSEC2):c.599G>C (p.Arg200Pro) SNV Uncertain significance 375456 rs1057519497 X:53349723-53349723 X:53320525-53320525
18 LRRC38 GRCh37/hg19 1p36.21(chr1:13801823-14012604) copy number gain Uncertain significance 523268 1:13801823-14012604
19 RYR1 NM_000540.2(RYR1):c.10097G>T (p.Arg3366Leu) SNV Uncertain significance 598974 rs137932199 19:39009932-39009932 19:38519292-38519292
20 SYNE2 NM_182914.2(SYNE2):c.19624G>T (p.Gly6542Trp) SNV Uncertain significance 598975 rs746433383 14:64685197-64685197 14:64218479-64218479
21 ADAR NM_001111.5(ADAR):c.1646C>A (p.Ala549Asp) SNV Uncertain significance 598987 rs1557882064 1:154571017-154571017 1:154598541-154598541
22 CACNA1A NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del) Deletion Uncertain significance 598990 rs775428832 19:13318377-13318382 19:13207563-13207568
23 MED13 NM_005121.3(MED13):c.1568A>G (p.His523Arg) SNV Uncertain significance 978189 17:60088310-60088310 17:62010949-62010949
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Expression for Specific Learning Disability

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Search GEO for disease gene expression data for Specific Learning Disability.
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Pathways for Specific Learning Disability

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Pathways related to Specific Learning Disability according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
MAPK signaling pathway 36 1
12.42 RPS6KA3 NF1 MAPK1 CACNA1A
2
EGF/EGFR Signaling Pathway 1
11.82 RPS6KA3 PTPN11 MAPK1
3
Kit receptor signaling pathway 1
Show member pathways
 11.79 RPS6KA3 PTPN11 MAPK1
4
Brain-Derived Neurotrophic Factor (BDNF) signaling pathway 1
11.66 RPS6KA3 PTPN11 MAPK1
5
Long-term depression 36
11.21 RYR1 MAPK1 CACNA1A
6
MAP Kinase Signaling 4
10.98 RPS6KA3 PTPN11 NF1 MAPK1
7
EGF receptor (ErbB1) signaling pathway 1
10.77 PTPN11 MAPK1
8
Growth hormone receptor signaling 65
Show member pathways
 10.74 PTPN11 MAPK1 GHR
9
Pilocytic astrocytoma 1
9.76 PTPN11 NF1
Sources

GO Terms for Specific Learning Disability

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Cellular components related to Specific Learning Disability according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.44 TBC1D24 SYNE2 RYR1 RPS6KA3 PTPN11 OTUD7A
2 presynapse GO:0098793 9.13 TBC1D24 NF1 CACNA1A

Biological processes related to Specific Learning Disability according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 activation of MAPK activity GO:0000187 9.43 PTPN11 MAPK1 GHR
2 hormone metabolic process GO:0042445 9.16 PTPN11 GHR
3 Bergmann glial cell differentiation GO:0060020 8.96 PTPN11 MAPK1
4 ERBB signaling pathway GO:0038127 8.62 PTPN11 MAPK1
Sources

Sources for Specific Learning Disability

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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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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