disease 1,531 words KG: ent-dise-e99318e1
Contents

Intellectual Disability

Disease Info
Mild ID (IQ 50-70)Individuals may have delayed language and learning difficulties but can achieve independence in daily living with support
Moderate ID (IQ 35-50)Requires more support for academic, vocational, and daily living skills
Severe ID (IQ 20-35)Significant support needs for all daily activities
Profound ID (IQ <20)Continuous support required for all aspects of life
EpilepsyOccurs in 15-30% of individuals with ID, with certain genetic etiologies having particularly high epilepsy risk
Autism spectrum disorderApproximately 30-40% of individuals with ID meet criteria for ASD
Cerebral palsyCommon in individuals with ID due to shared prenatal/perinatal risk factors
Sensory impairmentsVision and hearing deficits are more common
Fragile X syndrome (FXS)Caused by CGG repeat expansion in the FMR1 gene, leading to transcriptional silencing. FXS is the most common inherited cause of ID and the leading single-gene cause of autism.
Synaptic scaffoldingSHANK2, SHANK3, DLGAP1, DLGAP2
Synaptic receptorsGRIN2A, GRIN2B (NMDA receptor subunits)
Presynaptic proteinsSYNGAP1, STXBP1, MUNC18-1
DatabasesOMIMOrphanetClinicalTrialsPubMed

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Related Hypotheses (27)

Circadian Glymphatic Entrainment via Targeted Orexin Recepto
Score: 0.86
Selective Acid Sphingomyelinase Modulation Therapy
Score: 0.75
Aquaporin-4 Polarization Rescue
Score: 0.73
Senescence-Associated Myelin Lipid Remodeling
Score: 0.73
Circadian Rhythm Entrainment of Reactive Astrocytes
Score: 0.72
HDAC3-Selective Inhibition for Clock Reset
Score: 0.71
Autophagosome Maturation Checkpoint Control
Score: 0.71
TET2-Mediated Demethylation Rejuvenation Therapy
Score: 0.71
Cross-Seeding Prevention Strategy
Score: 0.69
Oligodendrocyte Protectin D1 Mimetic for Myelin Resolution
Score: 0.68
Lipid Droplet Dynamics as Phenotype Switches
Score: 0.67
DNMT1-Targeting Antisense Oligonucleotide Reset
Score: 0.65
Pharmacological Enhancement of APOE4 Glycosylation
Score: 0.62
Lysosomal Membrane Repair Enhancement
Score: 0.54
Microbiome-Derived Tryptophan Metabolite Neuroprotection
Score: 0.43
APOE-Dependent Autophagy Restoration
Score: 0.88
Senescent Cell Mitochondrial DNA Release
Score: 0.74
Near-infrared light therapy stimulates COX4-dependent mitoch
Score: 0.74
SIRT3-Mediated Mitochondrial Deacetylation Failure with PINK
Score: 0.74
TFAM overexpression creates mitochondrial donor-recipient gr
Score: 0.73
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Related Analyses (13)

Autophagy-lysosome pathway convergence across neurodegenerat
neurodegeneration · archived
Protein aggregation cross-seeding across neurodegenerative d
neurodegeneration · completed
Metabolic reprogramming in neurodegenerative disease
neurodegeneration · completed
Senolytic therapy for age-related neurodegeneration
neurodegeneration · archived
Neuroinflammation resolution mechanisms and pro-resolving me
neurodegeneration · archived

Related Experiments (2)

Cytochrome Therapeutics
clinical · proposed · Score: 0.40
FXTAS Phenotypic Penetrance: Why Only 40% of FMR1 Premutatio
validation · proposed · Score: 0.40

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