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MCID: SPC031
MIFTS: 37

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 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 learning disability. An important gene associated with Specific Learning Disability is BBIP1 (BBSome Interacting Protein 1), and among its related pathways/superpathways are Netrin Signaling and MAP Kinase Signaling. The drugs Guanfacine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and heart, 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 top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 29.5 TBC1D24 IQSEC2 CACNA1A
2 learning disability 27.0 TBC1D24 SYNE2 RYR1 RPS6KA3 PTPN11 NF1
3 specific developmental disorder 11.1
4 dyslexia 10.5
5 dysgraphia 10.4
6 attention deficit-hyperactivity disorder 10.3
7 dyscalculia 10.2
8 skin granular cell tumor 10.2 PTPN11 NF1
9 legius syndrome 10.2 PTPN11 NF1
10 neurofibromatosis-noonan syndrome 10.2 PTPN11 NF1
11 pulmonic stenosis 10.2 PTPN11 NF1
12 myelodysplastic/myeloproliferative neoplasm 10.1 PTPN11 NF1
13 epileptic encephalopathy, early infantile, 1 10.1 TBC1D24 CACNA1A
14 rasopathy 10.1 PTPN11 NF1
15 neonatal period electroclinical syndrome 10.1 TBC1D24 CACNA1A
16 reading disorder 10.0
17 periodic paralysis 9.9 TBC1D24 RYR1
18 epileptic encephalopathy, early infantile, 6 9.8 TBC1D24 IQSEC2 CACNA1A
19 autism 9.8
20 autism spectrum disorder 9.8
21 conduct disorder 9.8
22 substance abuse 9.8
23 sleep disorder 9.8
24 familial periodic paralysis 9.8 RYR1 CACNA1A
25 west syndrome 9.8 TBC1D24 IQSEC2 CACNA1A
26 anxiety 9.8
27 speech and communication disorders 9.8
28 writing disorder 9.8
29 apraxia 9.8
30 microcephaly 9.8
31 visual epilepsy 9.8
32 gonadal dysgenesis 9.8
33 turner syndrome 9.8
34 neurofibromatosis 9.8
35 developmental coordination disorder 9.8
36 developmental dyspraxia 9.8
37 seizure disorder 9.8
38 coronary ostial stenosis or atresia 9.8
39 alcohol dependence 9.8
40 asthma 9.8
41 hemiplegia 9.8
42 cerebral palsy 9.8
43 familial adult myoclonic epilepsy 9.7 TBC1D24 CACNA1A
44 early infantile epileptic encephalopathy 9.7 TBC1D24 IQSEC2 CACNA1A
45 alzheimer disease 9.7
46 migraine with or without aura 1 9.7
47 arachnoid cysts, intracranial 9.7
48 phobia, specific 9.7
49 major depressive disorder 9.7
50 oppositional defiant disorder 9.7

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:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.2 ADAR BBIP1 CACNA1A GHR IQSEC2 KMT2B
2 behavior/neurological MP:0005386 10.16 BBIP1 CACNA1A GHR IQSEC2 NF1 PTPN11
3 cellular MP:0005384 10.13 ADAR CACNA1A GHR KMT2B NF1 PTPN11
4 mortality/aging MP:0010768 10.11 ADAR BBIP1 CACNA1A GHR IQSEC2 KMT2B
5 cardiovascular system MP:0005385 10.1 ADAR GHR KMT2B NF1 PTPN11 RPS6KA3
6 integument MP:0010771 10.03 ADAR CACNA1A GHR NF1 PTPN11 RPS6KA3
7 nervous system MP:0003631 10 ADAR BBIP1 CACNA1A GHR IQSEC2 KMT2B
8 adipose tissue MP:0005375 9.92 GHR KMT2B PTPN11 RPS6KA3 RYR1
9 liver/biliary system MP:0005370 9.88 ADAR GHR KMT2B NF1 PTPN11 RPS6KA3
10 muscle MP:0005369 9.87 CACNA1A GHR NF1 PTPN11 RPS6KA3 RYR1
11 reproductive system MP:0005389 9.7 BBIP1 CACNA1A GHR KMT2B NF1 PTPN11
12 respiratory system MP:0005388 9.43 CACNA1A NF1 PTPN11 RPS6KA3 RYR1 SYNE2
13 vision/eye MP:0005391 9.1 BBIP1 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 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Guanfacine Approved, Investigational Phase 4 29110-47-2 3519
2
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
3
Amphetamine Approved, Illicit, Investigational Phase 4 300-62-9 5826 3007
4
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
5 Adrenergic alpha-Agonists Phase 4
6 Antihypertensive Agents Phase 4
7 Adrenergic Agonists Phase 4
8 Central Nervous System Stimulants Phase 4
9 Adrenergic Agents Phase 4
10 Sympathomimetics Phase 4
11 Neurotransmitter Agents Phase 4
12 Dopamine Agents Phase 4

Interventional clinical trials:

(show all 11)
# 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 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
8 Evaluation of the Performance and Safety of a Scintillating Lamp Developed to Improve the Reading of Dyslexic Patients Recruiting NCT04157829
9 Assessment of the Diagnostic Approach to Specific Language Disorders and Learning Using a New Calibrated Tool: the Modular Battery Tests Computerized (BMTi) Recruiting NCT03919357
10 Enhancing IEPs of Children With ADHD Using Daily Report Cards: An Efficacy Trial Recruiting NCT03747887
11 Randomized Controlled Trial Comparing the Effect of a Parent-guided Speech and Language Therapy Program During the Summer Holidays With an Adapted Holiday Book on the Reading Level of Children With Visual-attentional Dyslexia Not yet recruiting NCT04384952

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
Sources

Anatomical Context for Specific Learning Disability

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MalaCards organs/tissues related to Specific Learning Disability:

40
Brain, Testes, Heart
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Publications for Specific Learning Disability

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Articles related to Specific Learning Disability:

(show top 50) (show all 228)
# Title Authors PMID Year
1
Using Video-Based Instruction via Augmented Reality to Teach Mathematics to Middle School Students With Learning Disabilities. 61
32065040 2020
2
Identifying schizophrenia patients who carry pathogenic genetic copy number variants using standard clinical assessment: retrospective cohort study. 61
31964429 2020
3
Study of functional magnetic resonance imaging (fMRI) in children and adolescents with specific learning disorder (dyslexia). 61
32086175 2020
4
Sleep disturbances in specific learning disorders: a qualitative and quantitative investigation. 61
32241099 2020
5
Specific Learning Disability Unmasked by Psychophysiological Insomnia. 61
32351858 2020
6
Normal variability within a collegiate athlete sample: A rationale for comprehensive baseline testing. 61
32191157 2020
7
Panel 5: Impact of otitis media on quality of life and development. 61
31883704 2020
8
Clinically Historical and Prospective Associations Between Learning Disorders and Concussion in Young Adult Athletes. 61
32231484 2020
9
The prevalence and comorbidity rates of specific learning disorder among primary school children in Turkey. 61
32186228 2020
10
Specific Learning Disability in India: Challenges and Opportunities. 61
31900846 2020
11
Disorder of written expression and dysgraphia: definition, diagnosis, and management. 61
32206583 2020
12
Children 'At Risk' of Developing Specific Learning Disability in Primary Schools. 61
31865523 2020
13
Prevalence estimates of neurodevelopmental disorders in Japan: A community sample questionnaire study. 61
31657492 2020
14
The role of ADHD symptoms in the relationship between academic achievement and psychopathological symptoms. 61
31884314 2020
15
Participation in Everyday Activities of Children with and without Specific Learning Disorder. 61
31928288 2020
16
Students with specific learning disabilities experiences of pre-registration physiotherapy education: a qualitative study. 61
31892332 2019
17
Sleep-related rhythmic movements and rhythmic movement disorder beyond early childhood. 61
31683092 2019
18
[Executive function deficits and neurodevelopmental disorders in childhood and adolescence]. 61
31762001 2019
19
Post-weaning social isolation of mice: A putative animal model of developmental disorders. 61
31708401 2019
20
The Effectiveness of Web-Based Interventions Delivered to Children and Young People With Neurodevelopmental Disorders: Systematic Review and Meta-Analysis. 61
31682573 2019
21
Differences in specific learning disability identification with the Woodcock-Johnson IV. 61
31697146 2019
22
Comorbidity in Specific Learning Disorder: Issues in Assessment. 61
31853167 2019
23
Psychiatric Comorbidities in Children with Specific Learning Disorder-Mixed Type: A Cross-sectional Study. 61
31844375 2019
24
Seizures in children with epilepsy and attention-deficit/hyperactivity disorder. 61
31298788 2019
25
Intellectual functioning and executive functions in children and adolescents with attention deficit hyperactivity disorder (ADHD) and specific learning disorder (SLD). 61
31242533 2019
26
Profile of students referred for the assessment of scholastic backwardness at a tertiary care center. 61
31579180 2019
27
A pediatric case of NF1 and moyamoya syndrome: neuropsychological evaluation pre- and post-EDAS. 61
31523973 2019
28
Serum concentrations and detection rates of selected organochlorine pesticides in a sample of Greek school-aged children with neurodevelopmental disorders. 61
31209749 2019
29
Learning Disorder Confers Setting-Specific Treatment Resistance for Children with ADHD, Predominantly Inattentive Presentation. 61
31433688 2019
30
Agreement between telehealth and face-to-face assessment of intellectual ability in children with specific learning disorder. 61
29874968 2019
31
Conditional Longitudinal Relations of Elementary Literacy Skills to High School Reading Comprehension. 61
31204614 2019
32
Economic burden of specific learning disability: A prevalence-based cost of illness study of its direct, indirect, and intangible costs. 61
31169134 2019
33
Serious Games and Their Effect Improving Attention in Students with Learning Disabilities. 61
31336804 2019
34
Current Pattern of Psychiatric Comorbidity and Psychotropic Drug Prescription in Child and Adolescent Patients. 61
31108992 2019
35
Understanding Comorbidity Between Specific Learning Disabilities. 61
31070302 2019
36
The discrepancy between verbal and visuoperceptual IQ in children with a specific learning disorder: An analysis of 1624 cases. 61
30776739 2019
37
Does the Efferent Auditory System Have a Role in Children with Specific Learning Disabilities? 61
31049250 2019
38
Participation in Peer-Play Activities Among Children With Specific Learning Disability: A Randomized Controlled Trial. 61
30915972 2019
39
Special education use in elementary school by children with nonsyndromic orofacial clefts. 61
30516876 2019
40
Auditory processing disorder evaluations and cognitive profiles of children with specific learning disorder. 61
31249906 2019
41
Brain SPECT scans in students with specific learning disability: Preliminary results. 61
29882521 2019
42
Brain SPECT scans: A promising research tool for specific learning disability. 61
30693872 2019
43
Psychometric Properties of Screening Questionnaires for Children With Handwriting Issues. 61
32038361 2019
44
What Factors Facilitate Resilience in Developmental Dyslexia? Examining Protective and Compensatory Mechanisms Across the Neurodevelopmental Trajectory. 61
30510595 2018
45
The Relationship of Clinical Symptoms with Social Cognition in Children Diagnosed with Attention Deficit Hyperactivity Disorder, Specific Learning Disorder or Autism Spectrum Disorder. 61
30518170 2018
46
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. 61
30128952 2018
47
Daily motor characteristics in children with developmental coordination disorder and in children with specific learning disorder. 61
30094891 2018
48
The prevalence of specific learning disorder in mathematics and comorbidity with other developmental disorders in primary school-age children. 61
29974939 2018
49
Frequency of Visual Deficits in Children With Developmental Dyslexia. 61
30027208 2018
50
Specific learning disability. 61
30294983 2018
Sources

Variations for Specific Learning Disability

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ClinVar genetic disease variations for Specific Learning Disability:

6 (show all 32) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KMT2B NM_014727.3(KMT2B):c.3143_3149del (p.Gly1048fs)deletion Pathogenic 813003 19:36214713-36214719 19:35723812-35723818
2 PTPN11 NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu)SNV Pathogenic 40554 rs397507542 12:112926873-112926873 12:112489069-112489069
3 BBIP1 NM_001195307.1(BBIP1):c.38-1015C>TSNV Pathogenic 626905 10:112661299-112661299 10:110901541-110901541
4 NF1 NM_000267.3(NF1):c.7419G>A (p.Trp2473Ter)SNV Pathogenic 216067 rs863224493 17:29679299-29679299 17:31352281-31352281
5 46;XY;t(15;17)(q24;q21.3)dnTranslocation Pathogenic 267840
6 46;XX;t(7;13)(p13;q34)dnTranslocation Pathogenic 267841
7 46;XX;t(11;12)(p12;p12.1)dnTranslocation Pathogenic 267870
8 46;XX;inv(7)(q11.23q36.3)dninversion Pathogenic 267882
9 46;XX;t(19;21)(q13.3;q22.3)dnTranslocation Pathogenic 268035
10 46;XX;t(2;10)(q22;22.3)dnTranslocation Pathogenic 268036
11 46;XY;t(3;18)(q13.31;q22.1)dnTranslocation Pathogenic 268039
12 46;XY;t(4;14;4;1)(q28.2;q13.1;28.2q21;p32.3)dnTranslocation Likely pathogenic 267905
13 RPS6KA3 NM_004586.3(RPS6KA3):c.533C>G (p.Ala178Gly)SNV Likely pathogenic 374121 rs1057518914 X:20211665-20211665 X:20193547-20193547
14 46;X;t(Y;16)(q11.23;p11.2);t(6;21)(p21.3;p13)dnTranslocation Likely pathogenic 267834
15 46;XX;t(10;14)(p13;q21)dnTranslocation Likely pathogenic 267875
16 46;X;t(Y;3)(p11.2;p12.3)dnTranslocation Likely pathogenic 267818
17 TBC1D24 NM_001199107.2(TBC1D24):c.901C>T (p.Gln301Ter)SNV Likely pathogenic 812998 16:2547050-2547050 16:2497049-2497049
18 GHR NM_000163.5(GHR):c.718T>C (p.Tyr240His)SNV Conflicting interpretations of pathogenicity 198398 rs143814221 5:42711408-42711408 5:42711306-42711306
19 CACNA1A NM_000068.4(CACNA1A):c.*478_*483deldeletion Conflicting interpretations of pathogenicity 598990 rs1568415991 19:13318377-13318382 19:13207563-13207568
20 RYR1 NM_000540.2(RYR1):c.10097G>T (p.Arg3366Leu)SNV Uncertain significance 598974 rs137932199 19:39009932-39009932 19:38519292-38519292
21 LRRC38 , PDPN GRCh37/hg19 1p36.21(chr1:13801823-14012604)copy number gain Uncertain significance 523268 1:13801823-14012604
22 ADAR NM_001111.5(ADAR):c.1646C>A (p.Ala549Asp)SNV Uncertain significance 598987 rs1557882064 1:154571017-154571017 1:154598541-154598541
23 SYNE2 NM_182914.2(SYNE2):c.19624G>T (p.Gly6542Trp)SNV Uncertain significance 598975 rs746433383 14:64685197-64685197 14:64218479-64218479
24 TBC1D24 NM_001199107.2(TBC1D24):c.605C>T (p.Ser202Leu)SNV Uncertain significance 207501 rs796053400 16:2546754-2546754 16:2496753-2496753
25 46;XY;t(6;11)(q23;q21)or(q25;q21)dnTranslocation Uncertain significance 267823
26 IQSEC2 NM_001111125.3(IQSEC2):c.599G>C (p.Arg200Pro)SNV Uncertain significance 375456 rs1057519497 X:53349723-53349723 X:53320525-53320525
27 46;XX;t(2;7;8;3;16)(q24.2;q31.32;q24.11;q26.2;q22)Translocation Uncertain significance 267913
28 46;XY;t(10;14)(q11.2;q21)dnTranslocation Uncertain significance 267916
29 46;XX;t(12;17)(q13.1;q11.2)dnTranslocation Uncertain significance 267931
30 46;XX;inv(12)(p11.2q15)inversion Uncertain significance 267991
31 46;XY;t(2;10)(p15;p14)dnTranslocation Uncertain significance 268032
32 46;XX;t(5;7)(q12.2;q21.2)matTranslocation Uncertain significance 268045
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
Netrin Signaling 63
10.85 RYR1 CACNA1A
2
MAP Kinase Signaling 4
10.85 RPS6KA3 PTPN11 NF1
3
Growth hormone receptor signaling 65
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 9.36 TBC1D24 SYNE2 RYR1 RPS6KA3 PTPN11 NF1
2 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 positive regulation of cell differentiation GO:0045597 9.16 RPS6KA3 GHR
2 regulation of cilium assembly GO:1902017 8.96 TBC1D24 SYNE2
3 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 protein binding GO:0005515 9.4 TBC1D24 SYNE2 RYR1 RPS6KA3 PTPN11 NF1
2 voltage-gated calcium channel activity GO:0005245 8.96 RYR1 CACNA1A
Sources

Sources for Specific Learning Disability

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
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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