MCID: SPC031
MIFTS: 38

Specific Learning Disability

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Specific Learning Disability

MalaCards integrated aliases for Specific Learning Disability:

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

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Orphanet 58 ORPHA211047

Summaries for Specific Learning Disability

MalaCards based summary : Specific Learning Disability, also known as specific learning difficulty, is related to neurofibromatosis, type iv, of riccardi and learning disability. An important gene associated with Specific Learning Disability is BBIP1 (BBSome Interacting Protein 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 growth/size/body region and behavior/neurological

Related Diseases for Specific Learning Disability

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

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 neurofibromatosis, type iv, of riccardi 29.5 PTPN11 NF1
2 learning disability 27.0 SYNE2 RYR1 RPS6KA3 PTPN11 NF1 IQSEC2
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 neurofibromatosis-noonan syndrome 10.2 PTPN11 NF1
10 legius syndrome 10.2 PTPN11 NF1
11 pulmonic stenosis 10.2 PTPN11 NF1
12 myelodysplastic/myeloproliferative neoplasm 10.1 PTPN11 NF1
13 rasopathy 10.1 PTPN11 NF1
14 costello syndrome 10.0 PTPN11 NF1
15 reading disorder 10.0
16 alacrima, achalasia, and mental retardation syndrome 9.9
17 autism 9.8
18 autism spectrum disorder 9.8
19 substance abuse 9.8
20 anxiety 9.8
21 speech and communication disorders 9.8
22 writing disorder 9.8
23 apraxia 9.8
24 microcephaly 9.8
25 visual epilepsy 9.8
26 gonadal dysgenesis 9.8
27 turner syndrome 9.8
28 developmental coordination disorder 9.8
29 developmental dyspraxia 9.8
30 seizure disorder 9.8
31 coronary ostial stenosis or atresia 9.8
32 alcohol dependence 9.8
33 asthma 9.8
34 hemiplegia 9.8
35 cerebral palsy 9.8
36 cardiofaciocutaneous syndrome 1 9.8 PTPN11 NF1
37 familial periodic paralysis 9.7 RYR1 CACNA1A
38 alzheimer disease 9.7
39 arachnoid cysts, intracranial 9.7
40 phobia, specific 9.7
41 major depressive disorder 9.7
42 oppositional defiant disorder 9.7
43 pervasive developmental disorder 9.7
44 common cold 9.7
45 conduct disorder 9.7
46 mental depression 9.7
47 neonatal jaundice 9.7
48 benign epilepsy with centrotemporal spikes 9.7
49 mutism 9.7
50 sleep disorder 9.7

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



Diseases related to Specific Learning Disability

Symptoms & Phenotypes for Specific Learning Disability

MGI Mouse Phenotypes related to Specific Learning Disability:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.11 ADAR BBIP1 CACNA1A GHR NF1 PTPN11
2 behavior/neurological MP:0005386 10.09 BBIP1 CACNA1A GHR NF1 PTPN11 RPS6KA3
3 cardiovascular system MP:0005385 10.08 ADAR GHR NF1 PTPN11 RPS6KA3 RYR1
4 cellular MP:0005384 10.07 ADAR CACNA1A GHR NF1 PTPN11 RYR1
5 integument MP:0010771 10.06 ADAR CACNA1A GHR NF1 PTPN11 RPS6KA3
6 hematopoietic system MP:0005397 10.04 ADAR CACNA1A GHR NF1 PTPN11 RPS6KA3
7 immune system MP:0005387 10.02 ADAR CACNA1A GHR NF1 PTPN11 RPS6KA3
8 mortality/aging MP:0010768 10.01 ADAR BBIP1 CACNA1A GHR NF1 PTPN11
9 nervous system MP:0003631 9.92 ADAR BBIP1 CACNA1A GHR NF1 PTPN11
10 muscle MP:0005369 9.91 CACNA1A GHR NF1 PTPN11 RPS6KA3 RYR1
11 liver/biliary system MP:0005370 9.83 ADAR GHR NF1 PTPN11 RPS6KA3
12 reproductive system MP:0005389 9.73 BBIP1 CACNA1A GHR NF1 PTPN11 RPS6KA3
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 9.1 BBIP1 CACNA1A NF1 PTPN11 RPS6KA3 SYNE2

Drugs & Therapeutics for Specific Learning Disability

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

(show all 14)
# 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 Agonists Phase 4
7 Adrenergic alpha-2 Receptor Agonists Phase 4
8 Sympathomimetics Phase 4
9 Neurotransmitter Agents Phase 4
10 Dopamine Agents Phase 4
11 Dopamine Uptake Inhibitors Phase 4
12 Central Nervous System Stimulants Phase 4
13 Autonomic Agents Phase 4
14 Adrenergic 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 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 Assessment of the Diagnostic Approach to Specific Language Disorders and Learning Using a New Calibrated Tool: the Modular Battery Tests Computerized (BMTi) Recruiting NCT03919357
9 Enhancing IEPs of Children With ADHD Using Daily Report Cards: An Efficacy Trial Recruiting NCT03747887
10 Evaluation of the Performance and Safety of a Scintillating Lamp Developed to Improve the Reading of Dyslexic Patients Not yet recruiting NCT04157829

Search NIH Clinical Center for Specific Learning Disability

Genetic Tests for Specific Learning Disability

Genetic tests related to Specific Learning Disability:

# Genetic test Affiliating Genes
1 Specific Learning Disability 29

Anatomical Context for Specific Learning Disability

MalaCards organs/tissues related to Specific Learning Disability:

40
Brain, Testes, Heart, Bone, Skin

Publications for Specific Learning Disability

Articles related to Specific Learning Disability:

(show top 50) (show all 220)
# Title Authors PMID Year
1
Prevalence estimates of neurodevelopmental disorders in Japan: A community sample questionnaire study. 61
31657492 2020
2
The role of ADHD symptoms in the relationship between academic achievement and psychopathological symptoms. 61
31884314 2020
3
Children 'At Risk' of Developing Specific Learning Disability in Primary Schools. 61
31865523 2020
4
Specific Learning Disability in India: Challenges and Opportunities. 61
31900846 2020
5
Participation in Everyday Activities of Children with and without Specific Learning Disorder. 61
31928288 2020
6
Identifying schizophrenia patients who carry pathogenic genetic copy number variants using standard clinical assessment: retrospective cohort study. 61
31964429 2020
7
Students with specific learning disabilities experiences of pre-registration physiotherapy education: a qualitative study. 61
31892332 2019
8
[Executive function deficits and neurodevelopmental disorders in childhood and adolescence]. 61
31762001 2019
9
Sleep-related rhythmic movements and rhythmic movement disorder beyond early childhood. 61
31683092 2019
10
Panel 5: Impact of otitis media on quality of life and development. 61
31883704 2019
11
The Effectiveness of Web-Based Interventions Delivered to Children and Young People With Neurodevelopmental Disorders: Systematic Review and Meta-Analysis. 61
31682573 2019
12
Post-weaning social isolation of mice: A putative animal model of developmental disorders. 61
31708401 2019
13
Differences in specific learning disability identification with the Woodcock-Johnson IV. 61
31697146 2019
14
Comorbidity in Specific Learning Disorder: Issues in Assessment. 61
31853167 2019
15
Psychiatric Comorbidities in Children with Specific Learning Disorder-Mixed Type: A Cross-sectional Study. 61
31844375 2019
16
Seizures in children with epilepsy and attention-deficit/hyperactivity disorder. 61
31298788 2019
17
Intellectual functioning and executive functions in children and adolescents with attention deficit hyperactivity disorder (ADHD) and specific learning disorder (SLD). 61
31242533 2019
18
A pediatric case of NF1 and moyamoya syndrome: neuropsychological evaluation pre- and post-EDAS. 61
31523973 2019
19
Profile of students referred for the assessment of scholastic backwardness at a tertiary care center. 61
31579180 2019
20
Serum concentrations and detection rates of selected organochlorine pesticides in a sample of Greek school-aged children with neurodevelopmental disorders. 61
31209749 2019
21
Learning Disorder Confers Setting-Specific Treatment Resistance for Children with ADHD, Predominantly Inattentive Presentation. 61
31433688 2019
22
Agreement between telehealth and face-to-face assessment of intellectual ability in children with specific learning disorder. 61
29874968 2019
23
Conditional Longitudinal Relations of Elementary Literacy Skills to High School Reading Comprehension. 61
31204614 2019
24
Economic burden of specific learning disability: A prevalence-based cost of illness study of its direct, indirect, and intangible costs. 61
31169134 2019
25
Serious Games and Their Effect Improving Attention in Students with Learning Disabilities. 61
31336804 2019
26
Current Pattern of Psychiatric Comorbidity and Psychotropic Drug Prescription in Child and Adolescent Patients. 61
31108992 2019
27
Understanding Comorbidity Between Specific Learning Disabilities. 61
31070302 2019
28
The discrepancy between verbal and visuoperceptual IQ in children with a specific learning disorder: An analysis of 1624 cases. 61
30776739 2019
29
Does the Efferent Auditory System Have a Role in Children with Specific Learning Disabilities? 61
31049250 2019
30
Participation in Peer-Play Activities Among Children With Specific Learning Disability: A Randomized Controlled Trial. 61
30915972 2019
31
Special education use in elementary school by children with nonsyndromic orofacial clefts. 61
30516876 2019
32
Auditory processing disorder evaluations and cognitive profiles of children with specific learning disorder. 61
31249906 2019
33
Brain SPECT scans: A promising research tool for specific learning disability. 61
30693872 2019
34
Brain SPECT scans in students with specific learning disability: Preliminary results. 61
29882521 2019
35
Psychometric Properties of Screening Questionnaires for Children With Handwriting Issues. 61
32038361 2019
36
What Factors Facilitate Resilience in Developmental Dyslexia? Examining Protective and Compensatory Mechanisms Across the Neurodevelopmental Trajectory. 61
30510595 2018
37
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
38
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
39
Daily motor characteristics in children with developmental coordination disorder and in children with specific learning disorder. 61
30094891 2018
40
The prevalence of specific learning disorder in mathematics and comorbidity with other developmental disorders in primary school-age children. 61
29974939 2018
41
Frequency of Visual Deficits in Children With Developmental Dyslexia. 61
30027208 2018
42
Specific learning disability. 61
30294983 2018
43
Neurodevelopmental and emotional-behavioral outcomes in late-preterm infants: an observational descriptive case study. 61
30296934 2018
44
Impact of dance therapy on children with specific learning disability: a two arm cluster randomized control study on Italian sample. 61
30299024 2018
45
Perception of Families of Children with Specific Learning Disorder: An Exploratory Study. 61
30275614 2018
46
Correlation between sleep profile and behavior in individuals with specific learning disorder. 61
29972444 2018
47
Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations. 61
29744066 2018
48
Dyscalculia and dyslexia: Different behavioral, yet similar brain activity profiles during arithmetic. 61
29876258 2018
49
Asymmetrical interference between number and item size perception provides evidence for a domain specific impairment in dyscalculia. 61
30550549 2018
50
Investigating the influence of ubiquinone blood level on the abilities of children with specific learning disorder. 61
30546250 2018

Variations for Specific Learning Disability

ClinVar genetic disease variations for Specific Learning Disability:

6 (show all 29) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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_002834.4(PTPN11):c.1493G>T (p.Arg498Leu)SNV Pathogenic 40554 rs397507542 12:112926873-112926873 12:112489069-112489069
3 46;XY;t(15;17)(q24;q21.3)dnTranslocation Pathogenic 267840
4 46;XX;t(7;13)(p13;q34)dnTranslocation Pathogenic 267841
5 46;XX;t(11;12)(p12;p12.1)dnTranslocation Pathogenic 267870
6 46;XX;inv(7)(q11.23q36.3)dninversion Pathogenic 267882
7 46;XX;t(19;21)(q13.3;q22.3)dnTranslocation Pathogenic 268035
8 46;XX;t(2;10)(q22;22.3)dnTranslocation Pathogenic 268036
9 46;XY;t(3;18)(q13.31;q22.1)dnTranslocation Pathogenic 268039
10 BBIP1 NM_001195307.1(BBIP1):c.38-1015C>TSNV Pathogenic 626905 10:112661299-112661299 10:110901541-110901541
11 RPS6KA3 NM_004586.3(RPS6KA3):c.533C>G (p.Ala178Gly)SNV Likely pathogenic 374121 rs1057518914 X:20211665-20211665 X:20193547-20193547
12 46;X;t(Y;16)(q11.23;p11.2);t(6;21)(p21.3;p13)dnTranslocation Likely pathogenic 267834
13 46;XY;t(4;14;4;1)(q28.2;q13.1;28.2q21;p32.3)dnTranslocation Likely pathogenic 267905
14 46;XX;t(10;14)(p13;q21)dnTranslocation Likely pathogenic 267875
15 46;X;t(Y;3)(p11.2;p12.3)dnTranslocation Likely pathogenic 267818
16 GHR NM_000163.5(GHR):c.718T>C (p.Tyr240His)SNV Conflicting interpretations of pathogenicity 198398 rs143814221 5:42711408-42711408 5:42711306-42711306
17 CACNA1A NM_001127221.1(CACNA1A):c.*478_*483deldeletion Conflicting interpretations of pathogenicity 598990 rs1568415991 19:13318377-13318382 19:13207563-13207568
18 RYR1 NM_000540.2(RYR1):c.10097G>T (p.Arg3366Leu)SNV Uncertain significance 598974 rs137932199 19:39009932-39009932 19:38519292-38519292
19 IQSEC2 NM_001111125.3(IQSEC2):c.599G>C (p.Arg200Pro)SNV Uncertain significance 375456 rs1057519497 X:53349723-53349723 X:53320525-53320525
20 LRRC38 , PDPN GRCh37/hg19 1p36.21(chr1:13801823-14012604)copy number gain Uncertain significance 523268 1:13801823-14012604
21 ADAR NM_001111.5(ADAR):c.1646C>A (p.Ala549Asp)SNV Uncertain significance 598987 rs1557882064 1:154571017-154571017 1:154598541-154598541
22 SYNE2 NM_182914.2(SYNE2):c.19624G>T (p.Gly6542Trp)SNV Uncertain significance 598975 rs746433383 14:64685197-64685197 14:64218479-64218479
23 46;XY;t(6;11)(q23;q21)or(q25;q21)dnTranslocation Uncertain significance 267823
24 46;XX;t(2;7;8;3;16)(q24.2;q31.32;q24.11;q26.2;q22)Translocation Uncertain significance 267913
25 46;XY;t(10;14)(q11.2;q21)dnTranslocation Uncertain significance 267916
26 46;XX;t(12;17)(q13.1;q11.2)dnTranslocation Uncertain significance 267931
27 46;XX;inv(12)(p11.2q15)inversion Uncertain significance 267991
28 46;XY;t(2;10)(p15;p14)dnTranslocation Uncertain significance 268032
29 46;XX;t(5;7)(q12.2;q21.2)matTranslocation Uncertain significance 268045

Expression for Specific Learning Disability

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

Pathways for Specific Learning Disability

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

# Super pathways Score Top Affiliating Genes
1 11.03 RYR1 CACNA1A
2 10.85 RYR1 CACNA1A
3 10.85 RPS6KA3 PTPN11 NF1
4
Show member pathways
10.57 PTPN11 GHR

GO Terms for Specific Learning Disability

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.32 SYNE2 RYR1 RPS6KA3 PTPN11 NF1 IQSEC2
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 hormone-mediated signaling pathway GO:0009755 9.16 PTPN11 GHR
2 positive regulation of cell differentiation GO:0045597 8.96 RPS6KA3 GHR
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 9.65 SYNE2 RYR1 RPS6KA3 PTPN11 NF1 IQSEC2
2 voltage-gated calcium channel activity GO:0005245 8.62 RYR1 CACNA1A

Sources for Specific Learning Disability

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
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