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Atlas / Disease / Learning disability

Learning disability

disease
On this page

Also known as learning disorder

Summary

Learning disability (MONDO:0004681) is a disease with 1 cohort gene (1 GWAS associations across 4 studies) and 47 clinical trials. Top therapeutic interventions include lovastatin, memantine, and risperidone.

At a glance

  • Cohort genes: 1
  • GWAS associations: 1
  • ClinVar variants: 1
  • Clinical trials: 47

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namelearning disability
Mondo IDMONDO:0004681
MeSHD007859
DOIDDOID:8927
NCITC89334
SNOMED CT1855002
UMLSC0751265
MedGen199623
Is cancer (heuristic)no

Also known as: learning disorder

Data availability: 1 ClinVar variant · 1 GWAS association (4 studies).

Disease family

An umbrella term covering 3 Mondo subtypes.

Classification path: disease › human disease › disease by developmental or physiological process › psychiatric disorder › mental disorder › developmental disorder of mental health › specific developmental disorder › learning disability

Related subtypes (9): fetal alcohol spectrum disorder, oppositional defiant disorder, fetal nicotine spectrum disorder, communication disorder, stereotypic movement disorder, tic disorder, developmental coordination disorder, conduct disorder, attention deficit-hyperactivity disorder

Subtypes (3): writing disorder, dyscalculia, reading disorder

Genetics & variants

GWAS landscape

1 GWAS associations across 4 studies. Top hits map to 1 distinct genes (as reported by GWAS).

Top associations by p-value

rsIDp-valueGeneRisk alleleOdds ratio
rs13472409e-08KCNIP4?

Top studies (by case count)

StudyLead authorYearCasesControlsTitle
GCST90651818Liu TY2025755231,742Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90481843Verma A2024333450,669Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90727063Kim HI202630343,723Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity.
GCST90435886Zhou W2018164408,378Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

TierVariants
Tier 1: coding0
Tier 2: splice/UTR0
Tier 3: regulatory0
Tier 4: intronic/intergenic1

MAF distribution

BucketVariants
common (>=0.05)1
low_freq (0.01-0.05)0
rare (<0.01)0
unknown0

Functional consequences

ConsequenceCount
intron_variant1

Top variants

rsIDChrPosAllelesMAFConsequenceGenep-valueTier
rs1347240421158626A>C,G0.05intron_variantKCNIP49e-08Tier 4: intronic/intergenic

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 pathogenic/likely pathogenic

ClinVarVariant (HGVS)GeneClassificationReview
189359NM_004214.5(FIBP):c.652C>T (p.Gln218Ter)FIBPPathogenic/Likely pathogenicno assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
FIBPOrphanet:500095Tall stature-intellectual disability-renal anomalies syndrome

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

SubsetGenes
multi_evidence1

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
FIBPHGNC:3705ENSG00000172500O43427Acidic fibroblast growth factor intracellular-binding proteinclinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
FIBPAcidic fibroblast growth factor intracellular-binding proteinMay be involved in mitogenic function of FGF1.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

FamilyGenesFoldFDR
Other/Unknown11.8×0.558

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
FIBPOther/UnknownnoFIBP

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)0
broad (>20)1
unknown0

Top tissues across cohort

TissueCohort genes
prefrontal cortex1
right frontal lobe1
stromal cell of endometrium1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
FIBP290ubiquitousmarkerstromal cell of endometrium, right frontal lobe, prefrontal cortex

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

SymbolInteractor count
FIBP1,462

Structural data

PDB: 0 · AlphaFold-only: 1 · No structure: 0

AlphaFold-only cohort genes (top 30 by pLDDT)

SymbolUniProtpLDDT
FIBPO4342792.33

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
platelet aggregation1337.0×0.004FIBP
fibroblast growth factor receptor signaling pathway1285.6×0.004FIBP

Therapeutics

Drugs indicated for this disease

No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Lovastatin.

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

SymbolMoleculesMax phase
FIBP00

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

SymbolAssaysType breakdown
FIBP1Binding:1

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

TierDefinitionGenesSymbols
AApproved (phase 4 drug)0
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug0
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug1FIBP

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

SymbolChEMBL assaysDrugged partners (top 3)
FIBP1—

Clinical trials & evidence

Clinical trials

Clinical trials: 47.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified43
PHASE2/PHASE31
PHASE31
PHASE1/PHASE21
PHASE21

Top trials by phase / activity

NCTPhaseStatusTitle
NCT00246792PHASE2/PHASE3UNKNOWNEnhancing Self-Understanding and Social Integration of Middle School Students With Learning Disabilities
NCT00254930PHASE3COMPLETEDA Prospective Study of Risperdal (Risperidone) for the Treatment of Behavioral Disorder Following Psychological Therapy for Challenging Behavior in Learning Disabled Children
NCT02964884PHASE2ACTIVE_NOT_RECRUITINGInterventions for Reading Disabilities in NF1
NCT01337232PHASE1/PHASE2COMPLETEDBuilding Complex Language
NCT05201534Not specifiedRECRUITINGInterventions in Mathematics and Cognitive Skills
NCT05686473Not specifiedRECRUITINGPsychoeducation of Parents to Children With FASD
NCT05767242Not specifiedRECRUITINGEarly Neurophysiological Markers of Language Impairments
NCT06479850Not specifiedNOT_YET_RECRUITINGA Strength-Based Intervention to Improve Job Interview Skills in Neurodiverse Young Adults
NCT06508853Not specifiedNOT_YET_RECRUITINGTransforming Care Experiences of Support Workers and Managers
NCT06780501Not specifiedRECRUITINGNeuropsychiatric Research Databases for People With Intellectual Disabilities and Epilepsy (REFINE)
NCT06902610Not specifiedRECRUITINGExamining the Medium-term Effect on Non Inferiority of the Previous Training With the DMD Poppins Clinical for Cognitive, Musical Training in Addition to Bi-monthly Speech and Reading Therapy on Reading Writing Abilities of Pediatric Patients With SLD Reading VS Control Group
NCT07230093Not specifiedNOT_YET_RECRUITINGExercise and Physical Fitness in Children With Specific Learning Disabilities
NCT07419477Not specifiedNOT_YET_RECRUITINGBalance and Motor Skills in SLD Children
NCT07546292Not specifiedRECRUITINGEnhancing Letter-Speech Sound Learning and Reading Network Activation With Transcranial Electrical Stimulation
NCT07585708Not specifiedNOT_YET_RECRUITINGLearning Differences in Medical Education
NCT00061412Not specifiedCOMPLETEDComprehensive Program to Improve Reading and Writing Skills in At-Risk and Dyslexic Children
NCT00240760Not specifiedUNKNOWNMemantine and Down’s Syndrome
NCT00930449Not specifiedCOMPLETEDEffects Of A Computerized Working Memory Training Program On Attention, Working Memory, And Academics, In Adolescents With Severe ADHD/LD
NCT01032369Not specifiedUNKNOWNThe Additive Effect of Cognitive Behavioral Treatment (CBT) to Conventional Weight Loss Intervention Program for Young Adults With Intellectual Disabilities
NCT01426451Not specifiedCOMPLETEDAssessment of a Drama Workshop Program for Immigrant and Refugee Adolescents
NCT01652651Not specifiedUNKNOWNRisk and Resilience Factors in Learning Disabilities Population
NCT01818778Not specifiedCOMPLETEDThe Efficacy of Using Volunteers to Implement a Cognitive Stimulation Program in Two Long-Term Care Homes
NCT02160886Not specifiedCOMPLETEDEffects of a Task Oriented Intervention With Two Goal-setting Approaches
NCT02227381Not specifiedCOMPLETEDAction Medical Research
NCT02345512Not specifiedCOMPLETEDInvestigating the Clinical and Cost Effectiveness of Lycra Splinting
NCT02797301Not specifiedCOMPLETEDA Computerised Test for Assessing the Early Reading Skills
NCT02827396Not specifiedCOMPLETEDEffectiveness of a Training Intervention on Mental Health of Parents for Intellectually Disabled Children in Malawi
NCT02919215Not specifiedTERMINATEDTeacher Help for Children and Youth With Mental Health Disorders
NCT02970825Not specifiedUNKNOWNMove and Feel Good : Effects of Intensive Physical Training on Brain Plasticity, Cognition and Psychological Well-being.
NCT03255499Not specifiedUNKNOWNEfficacy of the MovinCog Intervention in Children
NCT03522337Not specifiedCOMPLETEDOral Health Promotion Among Preschool Children With Special Needs
NCT03626272Not specifiedUNKNOWNEffects of the in Situ Simulation to Competencies in Cardiopulmonary Resuscitation in the Nursing Team.
NCT03695068Not specifiedUNKNOWNEfficacy of a Two-Year Intensive Reading Intervention for Middle School English Learners With Reading Difficulties
NCT03717922Not specifiedCOMPLETEDLow Intensity Focused Ultrasound for Learning and Memory and Emotion Regulation
NCT03846271Not specifiedUNKNOWNEffects of Oxytocin on Reinforcement Learning
NCT04048213Not specifiedUNKNOWNThe Becoming of Children With Doose Syndrome
NCT04178421Not specifiedCOMPLETEDComputerized Eye-tracking Attention Training for Children With Special Needs
NCT04280367Not specifiedCOMPLETEDLearning and Executive Function Disorders in Children and Psychosis Risk at Adult-age
NCT04325282Not specifiedCOMPLETEDTranscranial Magnetic Stimulation for BECTS
NCT04365894Not specifiedCOMPLETEDAffective Learning in Disabled Health Training

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
LOVASTATIN41
MEMANTINE41
RISPERIDONE41

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 68

This page pulls from 68 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_assaychembl_documentchembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondbsnpdepmapdiamond_similaritydoidefoensemblentrezesm2_similarityfantom5_genefantom5_promotergenccgenerifgogtopdbgwasgwas_studyhgncintactinterpromedgenmeshmimmondomondochildmondoparentncitorphanetpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralsctidscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureumlsuniprot