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MCID: SPC031
MIFTS: 39

Specific Learning Disability

Categories: Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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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 59 29 6
Specific Learning Difficulty 59
Specific Learning Disorder 59

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 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 learning disability and neurofibromatosis, type iv, of riccardi. An important gene associated with Specific Learning Disability is NF1 (Neurofibromin 1), and among its related pathways/superpathways are Long-term depression and Netrin Signaling. The drugs Guanfacine and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and heart, and related phenotypes are cardiovascular system and cellular

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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 50)
# Related Disease Score Top Affiliating Genes
1 learning disability 30.6 RPS6KA3 NF1
2 neurofibromatosis, type iv, of riccardi 29.8 PTPN11 NF1
3 specific developmental disorder 11.1
4 dyslexia 10.5
5 dysgraphia 10.4
6 attention deficit-hyperactivity disorder 10.3
7 neurofibromatosis-noonan syndrome 10.3 PTPN11 NF1
8 leopard syndrome 10.2 PTPN11 NF1
9 dyscalculia 10.2
10 legius syndrome 10.2 PTPN11 NF1
11 reading disorder 10.0
12 pulmonic stenosis 10.0 PTPN11 NF1
13 alacrima, achalasia, and mental retardation syndrome 9.9
14 asthenopia 9.9
15 autism 9.8
16 autism spectrum disorder 9.8
17 substance abuse 9.8
18 anxiety 9.8
19 speech and communication disorders 9.8
20 writing disorder 9.8
21 apraxia 9.8
22 visual epilepsy 9.8
23 gonadal dysgenesis 9.8
24 turner syndrome 9.8
25 developmental coordination disorder 9.8
26 microcephaly 9.8
27 developmental dyspraxia 9.8
28 seizure disorder 9.8
29 coronary ostial stenosis or atresia 9.8
30 alcohol dependence 9.8
31 asthma 9.8
32 hemiplegia 9.8
33 cerebral palsy 9.8
34 alzheimer disease 9.7
35 phobia, specific 9.7
36 major depressive disorder 9.7
37 oppositional defiant disorder 9.7
38 pervasive developmental disorder 9.7
39 common cold 9.7
40 mental depression 9.7
41 neonatal jaundice 9.7
42 benign epilepsy with centrotemporal spikes 9.7
43 mutism 9.7
44 sleep disorder 9.7
45 arachnoid cysts 9.7
46 elective mutism 9.7
47 depression 9.7
48 x-linked non-specific intellectual disability 9.7 RPS6KA3 IQSEC2
49 scoliosis 9.5 RYR1 PTPN11 NF1
50 autosomal genetic disease 9.5 RYR1 NF1 CACNA1A

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 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.08 ADAR GHR NF1 PTPN11 RPS6KA3 RYR1
2 cellular MP:0005384 10.07 ADAR CACNA1A GHR NF1 PTPN11 RYR1
3 integument MP:0010771 10.06 ADAR CACNA1A GHR NF1 PTPN11 RPS6KA3
4 growth/size/body region MP:0005378 10.05 ADAR CACNA1A GHR NF1 PTPN11 RPS6KA3
5 homeostasis/metabolism MP:0005376 10.02 ADAR CACNA1A GHR NF1 PTPN11 RPS6KA3
6 hematopoietic system MP:0005397 9.97 ADAR CACNA1A GHR NF1 PTPN11 RPS6KA3
7 mortality/aging MP:0010768 9.91 ADAR CACNA1A GHR NF1 PTPN11 RYR1
8 muscle MP:0005369 9.87 CACNA1A GHR NF1 PTPN11 RPS6KA3 RYR1
9 adipose tissue MP:0005375 9.85 GHR PTPN11 RPS6KA3 RYR1
10 liver/biliary system MP:0005370 9.8 ADAR GHR NF1 PTPN11 RPS6KA3
11 nervous system MP:0003631 9.8 ADAR CACNA1A GHR NF1 PTPN11 RPS6KA3
12 limbs/digits/tail MP:0005371 9.73 GHR NF1 PTPN11 RYR1
13 respiratory system MP:0005388 9.63 CACNA1A NF1 PTPN11 RPS6KA3 RYR1 SYNE2
14 skeleton MP:0005390 9.43 ADAR GHR NF1 PTPN11 RPS6KA3 RYR1
15 vision/eye MP:0005391 9.02 CACNA1A NF1 PTPN11 RPS6KA3 SYNE2
Sources

Drugs & Therapeutics for Specific Learning Disability

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Drugs for Specific Learning Disability (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Guanfacine Approved, Investigational Phase 4 29110-47-2 3519
2
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
3
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
4
Amphetamine Approved, Illicit, Investigational Phase 4 300-62-9 5826 3007
5 Antihypertensive Agents Phase 4
6 Adrenergic alpha-2 Receptor Agonists Phase 4
7 Adrenergic Agonists Phase 4
8 Adrenergic alpha-Agonists Phase 4
9 Neurotransmitter Agents Phase 4
10 Sympathomimetics Phase 4
11 Dopamine Agents Phase 4
12 Central Nervous System Stimulants Phase 4
13 Neurotransmitter Uptake Inhibitors Phase 4
14 Peripheral Nervous System Agents Phase 4
15 Dopamine Uptake Inhibitors Phase 4
16 Adrenergic Agents Phase 4
17 Autonomic Agents Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Language-based Learning Skills and ADHD: Impact of Treatment With Sustained-release Guanfacine Completed NCT01146002 Phase 4 Guanfacine (sustained release)
2 Adaptive Response to Intervention (RTI) for Students With ADHD Recruiting NCT03511976 Phase 4 Stimulant
3 Building Complex Language: Effect of Treatment and Dosage Completed NCT01337232 Phase 1, Phase 2
4 Computerized Working Memory Training for Children With Dyslexia Completed NCT02429739
5 Functional MRI Study of the Involvement of Cortico-cerebellar and Cortico-striatal Networks in Children With a Developmental Coordination Disorder (DCD) and/or Developmental Dyslexia (DD) Completed NCT02393729
6 Severe LD in Juvenile Delinquents: Presentation, Course, and Remediation Recruiting NCT03261076
7 Assessment of the Diagnostic Approach to Specific Language Disorders and Learning Using a New Calibrated Tool: the Modular Battery Tests Computerized (BMTi) Recruiting NCT03919357
8 Enhancing IEPs of Children With ADHD Using Daily Report Cards: An Efficacy Trial Recruiting NCT03747887

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:

41
Brain, Testes, Heart
Sources

Publications for Specific Learning Disability

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Articles related to Specific Learning Disability:

(show top 50) (show all 202)
# Title Authors PMID Year
1
Learning Disorder Confers Setting-Specific Treatment Resistance for Children with ADHD, Predominantly Inattentive Presentation. 38
31433688 2019
2
Serum concentrations and detection rates of selected organochlorine pesticides in a sample of Greek school-aged children with neurodevelopmental disorders. 38
31209749 2019
3
Agreement between telehealth and face-to-face assessment of intellectual ability in children with specific learning disorder. 38
29874968 2019
4
Economic burden of specific learning disability: A prevalence-based cost of illness study of its direct, indirect, and intangible costs. 38
31169134 2019
5
Conditional Longitudinal Relations of Elementary Literacy Skills to High School Reading Comprehension. 38
31204614 2019
6
Serious Games and Their Effect Improving Attention in Students with Learning Disabilities. 38
31336804 2019
7
Seizures in children with epilepsy and attention deficit hyperactivity disorder. 38
31298788 2019
8
Intellectual functioning and executive functions in children and adolescents with attention deficit hyperactivity disorder (ADHD) and specific learning disorder (SLD). 38
31242533 2019
9
Current Pattern of Psychiatric Comorbidity and Psychotropic Drug Prescription in Child and Adolescent Patients. 38
31108992 2019
10
Understanding Comorbidity Between Specific Learning Disabilities. 38
31070302 2019
11
The discrepancy between verbal and visuoperceptual IQ in children with a specific learning disorder: An analysis of 1624 cases. 38
30776739 2019
12
Does the Efferent Auditory System Have a Role in Children with Specific Learning Disabilities? 38
31049250 2019
13
Participation in Peer-Play Activities Among Children With Specific Learning Disability: A Randomized Controlled Trial. 38
30915972 2019
14
Special education use in elementary school by children with nonsyndromic orofacial clefts. 38
30516876 2019
15
Auditory processing disorder evaluations and cognitive profiles of children with specific learning disorder. 38
31249906 2019
16
Brain SPECT scans in students with specific learning disability: Preliminary results. 38
29882521 2019
17
Brain SPECT scans: A promising research tool for specific learning disability. 38
30693872 2019
18
What Factors Facilitate Resilience in Developmental Dyslexia? Examining Protective and Compensatory Mechanisms Across the Neurodevelopmental Trajectory. 38
30510595 2018
19
The Relationship of Clinical Symptoms with Social Cognition in Children Diagnosed with Attention Deficit Hyperactivity Disorder, Specific Learning Disorder or Autism Spectrum Disorder. 38
30518170 2018
20
Comparison of the Effect of Cognitive Rehabilitation and Neurofeedback on Sustained Attention Among Elementary School Students with Specific Learning Disorder: A Preliminary Randomized Controlled Clinical Trial. 38
30128952 2018
21
Daily motor characteristics in children with developmental coordination disorder and in children with specific learning disorder. 38
30094891 2018
22
The prevalence of specific learning disorder in mathematics and comorbidity with other developmental disorders in primary school-age children. 38
29974939 2018
23
Neurodevelopmental and emotional-behavioral outcomes in late-preterm infants: an observational descriptive case study. 38
30296934 2018
24
Specific learning disability. 38
30294983 2018
25
Frequency of Visual Deficits in Children With Developmental Dyslexia. 38
30027208 2018
26
Impact of dance therapy on children with specific learning disability: a two arm cluster randomized control study on Italian sample. 38
30299024 2018
27
Perception of Families of Children with Specific Learning Disorder: An Exploratory Study. 38
30275614 2018
28
Correlation between sleep profile and behavior in individuals with specific learning disorder. 38
29972444 2018
29
Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations. 38
29744066 2018
30
Assessment of Psychiatric Comorbidity and WISC-R Profiles in Cases Diagnosed with Specific Learning Disorder According to DSM-5 Criteria. 38
30057453 2018
31
Recognizing Psychiatric Comorbidity With Reading Disorders. 38
29636707 2018
32
Specific learning disability in mathematics: a comprehensive review. 38
29441282 2018
33
Investigating the influence of ubiquinone blood level on the abilities of children with specific learning disorder. 38
30546250 2018
34
Efficacy of vision therapy in children with learning disability and associated binocular vision anomalies. 38
28599912 2018
35
Movement Issues Identified in Movement ABC2 Checklist Parent Ratings for Students with Persisting Dysgraphia, Dyslexia, and OWL LD and Typical Literacy Learners. 38
29606845 2018
36
Dyscalculia and dyslexia: Different behavioral, yet similar brain activity profiles during arithmetic. 38
29876258 2018
37
Asymmetrical interference between number and item size perception provides evidence for a domain specific impairment in dyscalculia. 38
30550549 2018
38
Cognitive Clusters in Specific Learning Disorder. 38
27856603 2018
39
The Probable Prevalence and Sociodemographic Characteristics of Specific Learning Disorder in Primary School Children in Edirne. 38
29321709 2017
40
ATP2C2 and DYX1C1 are putative modulators of dyslexia-related MMR. 38
29201552 2017
41
Evaluating the impact of dyslexia laws on the identification of specific learning disability and dyslexia. 38
29134483 2017
42
The Impact of Affiliate Stigma on the Psychological Well-Being of Mothers of Children with Specific Learning Disabilities in India: The Mediating Role of Subjective Burden. 38
27878938 2017
43
Focus on fluid reasoning: The relationship between fluid reasoning and the Pattern of Strengths and Weaknesses model. 38
28497989 2017
44
Need to Develop a Home-based Intervention for Specific Learning Disorder in Indian setting. 38
28852263 2017
45
Auditory Processing Disorder: What Does It Mean and What Can Be Done? 38
28538047 2017
46
Awareness about Specific Learning Disorder among teachers and parents: An Indian perspective. 38
28483081 2017
47
Association analysis of dyslexia candidate genes in a Dutch longitudinal sample. 38
28074887 2017
48
[Learning disorders in neurofibromatosis type 1]. 38
28256688 2017
49
[Oral healthcare for the persons with special needs.] 38
28947693 2017
50
Defective Number Sense or Impaired Access? Differential Impairments in Different Subgroups of Children With Mathematics Difficulties. 38
26054725 2017
Sources

Variations for Specific Learning Disability

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ClinVar genetic disease variations for Specific Learning Disability:

6 (show all 28)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PTPN11 NM_002834.4(PTPN11): c.1493G> T (p.Arg498Leu) single nucleotide variant Pathogenic rs397507542 12:112926873-112926873 12:112489069-112489069
2 46;XY;t(15;17)(q24;q21.3)dn Translocation Pathogenic
3 46;XX;t(7;13)(p13;q34)dn Translocation Pathogenic
4 46;XX;t(11;12)(p12;p12.1)dn Translocation Pathogenic
5 46;XX;t(19;21)(q13.3;q22.3)dn Translocation Pathogenic
6 46;XX;t(2;10)(q22;22.3)dn Translocation Pathogenic
7 46;XY;t(3;18)(q13.31;q22.1)dn Translocation Pathogenic
8 46;XX;inv(7)(q11.23q36.3)dn inversion Pathogenic
9 NF1 NM_000267.3(NF1): c.7419G> A (p.Trp2473Ter) single nucleotide variant Pathogenic rs863224493 17:29679299-29679299 17:31352281-31352281
10 46;X;t(Y;3)(p11.2;p12.3)dn Translocation Likely pathogenic
11 Translocation Likely pathogenic
12 Translocation Likely pathogenic
13 46;XX;t(10;14)(p13;q21)dn Translocation Likely pathogenic
14 RPS6KA3 NM_004586.3(RPS6KA3): c.533C> G (p.Ala178Gly) single nucleotide variant Likely pathogenic rs1057518914 X:20211665-20211665 X:20193547-20193547
15 GHR NM_000163.5(GHR): c.718T> C (p.Tyr240His) single nucleotide variant Conflicting interpretations of pathogenicity rs143814221 5:42711408-42711408 5:42711306-42711306
16 IQSEC2 NM_001111125.3(IQSEC2): c.599G> C (p.Arg200Pro) single nucleotide variant Uncertain significance rs1057519497 X:53349723-53349723 X:53320525-53320525
17 LRRC38 ; PDPN GRCh37/hg19 1p36.21(chr1: 13801823-14012604) copy number gain Uncertain significance 1:13801823-14012604 :0-0
18 46;XX;t(5;7)(q12.2;q21.2)mat Translocation Uncertain significance
19 ADAR NM_001111.5(ADAR): c.1646C> A (p.Ala549Asp) single nucleotide variant Uncertain significance 1:154571017-154571017 1:154598541-154598541
20 SYNE2 NM_182914.2(SYNE2): c.19624G> T (p.Gly6542Trp) single nucleotide variant Uncertain significance 14:64685197-64685197 14:64218479-64218479
21 CACNA1A NM_001127221.1(CACNA1A): c.*478_*483del deletion Uncertain significance 19:13318381-13318387 19:13207563-13207568
22 RYR1 NM_000540.2(RYR1): c.10097G> T (p.Arg3366Leu) single nucleotide variant Uncertain significance 19:39009932-39009932 19:38519292-38519292
23 Translocation Uncertain significance
24 46;XY;t(10;14)(q11.2;q21)dn Translocation Uncertain significance
25 46;XX;t(12;17)(q13.1;q11.2)dn Translocation Uncertain significance
26 46;XX;inv(12)(p11.2q15) inversion Uncertain significance
27 46;XY;t(2;10)(p15;p14)dn Translocation Uncertain significance
28 46;XY;t(6;11)(q23;q21)or(q25;q21)dn Translocation Uncertain significance
Sources

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
Long-term depression 37
11.03 RYR1 CACNA1A
2
Netrin Signaling 64
10.85 RYR1 CACNA1A
3
MAP Kinase Signaling 4
10.85 RPS6KA3 PTPN11 NF1
4
Growth hormone receptor signaling 66
Show member pathways
 10.57 PTPN11 GHR
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 9.28 SYNE2 RYR1 RPS6KA3 PTPN11 NF1 IQSEC2
2 sarcoplasmic reticulum GO:0016529 9.16 SYNE2 RYR1
3 sarcoplasmic reticulum membrane GO:0033017 8.96 SYNE2 RYR1

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

# Name GO ID Score Top Affiliating Genes
1 hormone-mediated signaling pathway GO:0009755 9.26 PTPN11 GHR
2 positive regulation of cell differentiation GO:0045597 9.16 RPS6KA3 GHR
3 regulation of multicellular organism growth GO:0040014 8.65 GHR
4 hormone metabolic process GO:0042445 8.62 PTPN11 GHR

Molecular functions related to Specific Learning Disability according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated calcium channel activity GO:0005245 8.62 RYR1 CACNA1A
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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 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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