MCID: INT063
MIFTS: 58

Intellectual Disability

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases, Fetal diseases

Aliases & Classifications for Intellectual Disability

MalaCards integrated aliases for Intellectual Disability:

Name: Intellectual Disability 24 29 69

Classifications:



Summaries for Intellectual Disability

MalaCards based summary : Intellectual Disability is related to syndromic x-linked intellectual disability and harel-yoon syndrome, and has symptoms including lethargy and neurobehavioral manifestations. An important gene associated with Intellectual Disability is ANKRD11 (Ankyrin Repeat Domain 11), and among its related pathways/superpathways are Neuroscience and Chromatin Regulation / Acetylation. The drugs Acetazolamide and Carbamazepine have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and bone, and related phenotypes are Increased cell death HMECs cells and behavior/neurological

Wikipedia : 72 Intellectual disability (ID), also known as general learning disability, and mental retardation (MR), is... more...

Related Diseases for Intellectual Disability

Diseases in the Intellectual Disability family:

Dyrk1a-Related Intellectual Disability Syndrome Trio-Related Intellectual Disability
Autosomal Dominant Intellectual Disability 30 Autosomal Recessive Intellectual Disability 58
Ddx3x-Related Intellectual Disability Hivep2-Related Intellectual Disability
Cask-Related Intellectual Disability Ppp2r5d-Related Intellectual Disability
Syngap1-Related Intellectual Disability Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation
Tbck-Related Intellectual Disability Syndrome

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

(show top 50) (show all 1106)
id Related Disease Score Top Affiliating Genes
1 syndromic x-linked intellectual disability 34.1 DYRK1A GRIN1 TCF4
2 harel-yoon syndrome 32.6 BRPF1 EBF3
3 pervasive developmental disorder 30.7 ATRX FMR1 IL1RAPL1 MECP2
4 personality disorder 30.2 FMR1 MECP2 SHANK3
5 alpha thalassemia-x-linked intellectual disability syndrome 12.2
6 syndromic intellectual disability 12.1
7 spastic paraplegia, intellectual disability, nystagmus, and obesity 12.1
8 non-syndromic x-linked intellectual disability 12.1
9 non-syndromic intellectual disability 12.1
10 dandy-walker malformation with intellectual disability, basal ganglia disease and seizures 12.1
11 blepharophimosis intellectual disability syndromes 12.1
12 hivep2-related intellectual disability 12.0
13 muscular dystrophy, congenital, with cataracts and intellectual disability 12.0
14 aniridia - ptosis - intellectual disability - familial obesity 12.0
15 hypoparathyroidism-intellectual disability-dysmorphism syndrome 12.0
16 intellectual disability-severe speech delay-mild dysmorphism syndrome 12.0
17 severe intellectual disability-progressive spastic diplegia syndrome 12.0
18 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 12.0
19 autosomal dominant non-syndromic intellectual disability 12.0
20 syndromic x-linked intellectual disability 7 12.0
21 intellectual disability-developmental delay-contractures syndrome 12.0
22 autosomal recessive non-syndromic intellectual disability 12.0
23 syndromic x-linked intellectual disability 12 12.0
24 syndromic x-linked intellectual disability type 10 12.0
25 aortic arch anomaly - peculiar facies - intellectual disability 12.0
26 arachnodactyly - intellectual disability - dysmorphism 12.0
27 syndromic x-linked intellectual disability siderius type 12.0
28 mbd25-related intellectual disability 12.0
29 syngap1-related non-syndromic intellectual disability 12.0
30 x-linked intellectual disability, siderius type 12.0
31 syngap1-related intellectual disability 12.0
32 ppp2r5d-related intellectual disability 12.0
33 syndromic x-linked intellectual disability abidi type 12.0
34 syndromic x-linked intellectual disability 14 12.0
35 autosomal recessive intellectual disability 58 12.0
36 megalocornea-intellectual disability syndrome 12.0
37 cask-related intellectual disability 12.0
38 adnp-related intellectual disability and autism spectrum disorder 11.9
39 dyrk1a-related intellectual disability syndrome 11.9
40 trio-related intellectual disability 11.9
41 x-linked intellectual disability, najm type 11.9
42 alpha thalassemia-intellectual disability syndrome type 1 11.8
43 intellectual disability - athetosis - microphthalmia 11.8
44 x-linked non-specific intellectual disability 11.8
45 intellectual disability - hypoplastic corpus callosum - preauricular tag 11.8
46 rare intellectual disability without developmental anomaly 11.8
47 x-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis 11.8
48 congenital insensitivity to pain with severe intellectual disability 11.8
49 alopecia-intellectual disability syndrome 11.8
50 brachydactyly-mesomelia-intellectual disability-heart defects syndrome 11.8

Graphical network of the top 20 diseases related to Intellectual Disability:



Diseases related to Intellectual Disability

Symptoms & Phenotypes for Intellectual Disability

UMLS symptoms related to Intellectual Disability:


lethargy, neurobehavioral manifestations

GenomeRNAi Phenotypes related to Intellectual Disability according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death HMECs cells GR00103-A-0 9.17 TCF4 ATRX CUL4B DYRK1A KAT6A KDM5C

MGI Mouse Phenotypes related to Intellectual Disability:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 ATRX BRPF1 KAT6A CUL4B MECP2 DYRK1A
2 cellular MP:0005384 9.97 ATRX KAT6A CUL4B MECP2 DYRK1A MED12
3 growth/size/body region MP:0005378 9.93 ATRX KAT6A BRPF1 CUL4B MECP2 DYRK1A
4 embryo MP:0005380 9.86 KAT6A CUL4B KDM5C MECP2 DYRK1A MED12
5 mortality/aging MP:0010768 9.73 ATRX KAT6A KDM5C CUL4B MECP2 DYRK1A
6 nervous system MP:0003631 9.4 IL1RAPL1 KAT6A CUL4B MECP2 DYRK1A MED12

Drugs & Therapeutics for Intellectual Disability

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

(show top 50) (show all 418)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
2
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
3
Clobazam Approved, Illicit Phase 4 22316-47-8 2789
4
Clonazepam Approved, Illicit Phase 4 1622-61-3 2802
5
Ethosuximide Approved Phase 4 77-67-8 3291
6
Felbamate Approved Phase 4 25451-15-4 3331
7
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
8
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
9
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 83-43-2 6741
10
Nitrazepam Approved Phase 4 146-22-5 4506
11
Oxcarbazepine Approved Phase 4 28721-07-5 34312
12
Phenobarbital Approved Phase 4 50-06-6 4763
13
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
14
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 50-24-8 5755
15
Pregabalin Approved, Illicit, Investigational Phase 4 148553-50-8 5486971
16
Tiagabine Approved Phase 4 115103-54-3 60648
17
Topiramate Approved Phase 4,Phase 3 97240-79-4 5284627
18
Valproic Acid Approved, Investigational Phase 4,Phase 2 99-66-1 3121
19
Vigabatrin Approved Phase 4 68506-86-5, 60643-86-9 5665
20
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
21
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
22
Memantine Approved, Investigational Phase 4,Phase 2 19982-08-2 4054
23
Methylphenidate Approved, Investigational Phase 4,Phase 2 113-45-1 4158
24
Milnacipran Approved Phase 4 92623-85-3 65833
25
Celiprolol Approved, Investigational Phase 4 56980-93-9
26
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
27
Lovastatin Approved, Investigational Phase 4,Phase 2 75330-75-5 53232
28
Risperidone Approved, Investigational Phase 4,Phase 3 106266-06-2 5073
29
Liraglutide Approved Phase 4,Phase 3 204656-20-2 44147092
30 Etiracetam Investigational Phase 4 33996-58-6
31 Anticonvulsants Phase 4,Phase 3,Phase 2
32 Methylprednisolone acetate Phase 4,Phase 2,Phase 3
33 Methylprednisolone Hemisuccinate Phase 4,Phase 2,Phase 3
34 Prednisolone acetate Phase 4,Phase 2,Phase 3
35 Prednisolone hemisuccinate Phase 4,Phase 2,Phase 3
36 Prednisolone phosphate Phase 4,Phase 2,Phase 3
37 Anti-Obesity Agents Phase 4,Phase 3,Phase 2
38 Neuroprotective Agents Phase 4,Phase 3,Phase 2,Phase 1
39 Protective Agents Phase 4,Phase 3,Phase 2,Phase 1
40 Antioxidants Phase 4,Phase 3,Phase 2,Phase 1
41 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
42 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
43 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1
44 Adrenergic Agents Phase 4,Phase 2
45 Antidepressive Agents Phase 4,Phase 3,Phase 2
46 Neurotransmitter Uptake Inhibitors Phase 4,Phase 3,Phase 2
47
Serotonin Phase 4,Phase 3,Phase 2 50-67-9 5202
48 Serotonin Agents Phase 4,Phase 3,Phase 2
49 Serotonin Uptake Inhibitors Phase 4,Phase 3,Phase 2
50 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 593)

id Name Status NCT ID Phase Drugs
1 Ketogenic Diet vs.Antiepileptic Drug Treatment in Drug Resistant Epilepsy Unknown status NCT00552526 Phase 4 Antiepileptic drug (AED)
2 Topiramate Treatment for Patients With Epilepsy and Learning Disability : A Prospective Observational Study Unknown status NCT00956696 Phase 4 topiramate
3 Open Label Study of Zonisamide in the Treatment of Epilepsy in Patients With Mental Retardation Completed NCT00298818 Phase 4
4 Use of Sustained Release Antiepileptic Medication (Depakote® ER) for Pediatric Epilepsy in a Mental Retardation/Developmental Disorder Population Completed NCT00207935 Phase 4
5 Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism Completed NCT01337700 Phase 4 Milnacipran;Placebo
6 Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type Completed NCT00190411 Phase 4 celiprolol;Control
7 Riluzole in Fragile X Syndrome Completed NCT00895752 Phase 4 Riluzole
8 Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Therapy Completed NCT00607386 Phase 4
9 Efficacy and Safety of Memantine Hydrochloride in Enhancing the Cognitive Abilities of Young Adults With Down Syndrome Completed NCT01112683 Phase 4 Memantine;Placebo
10 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4 Growth hormone (Genotonorm® or Omnitrope®)
11 Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome Recruiting NCT02642653 Phase 4 Lovastatin
12 Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of Age Recruiting NCT02455622 Phase 4 Elaprase for intravenous (IV) infusion
13 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome Recruiting NCT00768820 Phase 4 methylphenidate, fluoxetin, risperidone
14 Oxygen Versus Medical Air for Treatment of CSA in Prader Will Syndrome Recruiting NCT03031626 Phase 4
15 Liraglutide Use in Prader-Willi Syndrome Terminated NCT01542242 Phase 4 Liraglutide
16 Clinical and Cost Effectiveness of Positive Behaviour Support: a Trial Unknown status NCT01680276 Phase 3
17 Repetitive Behavior Disorders in People With Severe Mental Retardation Unknown status NCT00491478 Phase 3 sertraline
18 Self-Injury: Diagnosis and Treatment Unknown status NCT00065936 Phase 3 Naltrexone hydrochloride
19 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3 Everolimus;Placebo
20 Magnesium Sulfate to Prevent Brain Injury in Premature Infants Unknown status NCT00065949 Phase 3 magnesium sulfate
21 Independent Studies of Dextromethorphan and of Donepezil Hydrochloride for Rett Syndrome Unknown status NCT00069550 Phase 3 dextromethorphan;donepezil hydrochloride
22 Study to Assess the Efficacy and Safety of Eutropin in Prader-Willi Syndrome Unknown status NCT02204163 Phase 3 Eutropin;Genotropin
23 Growth Hormone Use in Adults With Prader-Willi Syndrome Unknown status NCT00444964 Phase 3 Nutropin AQ
24 Vitamin E in Aging Persons With Down Syndrome Unknown status NCT00056329 Phase 3 Vitamin E;multivitamin;Placebo
25 Effect of Rimonabant on Weight Gain and Body Composition in Adults With Prader Willi Syndrome Unknown status NCT00603109 Phase 3 rimonabant;placebo
26 Vibration and Cold for Pain Relief During Peripheral Intravenous Cannulation in Children With Intellectual Disability Completed NCT02434731 Phase 3
27 Atypical Neuroleptic Drugs in People With Mental Retardation/Developmental Delay Completed NCT00065273 Phase 3 risperidone;clozapine;olanzapine
28 Akathisia (Restless Legs Syndrome) in People With Schizophrenia and Mental Retardation Completed NCT00065286 Phase 3
29 A Study of the Safety and Effectiveness of Risperidone Versus Placebo for the Treatment of Conduct Disorder in Children With Mild, Moderate, or Borderline Mental Retardation Completed NCT00266552 Phase 3 risperidone
30 A Study of the Safety and Effectiveness of Risperidone for the Treatment of Conduct Disorder and Other Disruptive Behavior Disorders in Children Ages 5 to 12 With Mild, Moderate, or Borderline Mental Retardation Completed NCT00250354 Phase 3 Risperidone oral solution
31 Safety and Efficacy Study of Oral Glycopyrrolate Liquid for the Treatment of Pathologic (Chronic Moderate to Severe) Drooling in Pediatric Patients 3 to 18 Years of Age With Cerebral Palsy or Other Neurologic Conditions Completed NCT00491894 Phase 3 Oral Glycopyrrolate Liquid
32 Short-Term vs. Long-Term Valganciclovir Therapy for Symptomatic Congenital CMV Infections Completed NCT00466817 Phase 3 Valganciclovir
33 A Study of the Effectiveness and Safety of Risperidone Versus Placebo in the Treatment of Children With Autistic Disorder and Other Pervasive Developmental Disorders (PDD) Completed NCT00261508 Phase 3 risperidone
34 Efficacy and Safety Study of STX209 (Arbaclofen) for the Treatment of Social Withdrawal in Children With Fragile X Syndrome Completed NCT01325220 Phase 3 arbaclofen;arbaclofen;arbaclofen;Placebo
35 Efficacy and Safety Study of STX209 (Arbaclofen) for Social Withdrawal in Adolescents and Adults With Fragile X Syndrome Completed NCT01282268 Phase 3 arbaclofen;placebo
36 Safety and Efficacy of Hunterase Completed NCT01645189 Phase 3
37 Acamprosate in Youth With Fragile X Syndrome Completed NCT01300923 Phase 3 Acamprosate
38 MD1003-AMN MD1003 in Adrenomyeloneuropathy Completed NCT02961803 Phase 2, Phase 3 MD1003 100 mg capsule;Placebo
39 Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase Completed NCT00630747 Phase 2, Phase 3
40 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
41 Iduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II) Completed NCT00069641 Phase 2, Phase 3
42 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3 Cholic Acids
43 Study of the Efficacy of Topiramate in Patients With Prader Willi Syndrome Over 8 Weeks Completed NCT02810483 Phase 3 Topiramate;Placebo Comparator
44 Efficacy Study of Folinic Acid to Improve Mental Development of Children With Down Syndrome Completed NCT00294593 Phase 2, Phase 3 folinic acid
45 Multicenter Vitamin E Trial in Aging Persons With Down Syndrome Completed NCT01594346 Phase 3 Alpha-Tocopherol;Sugar Pill
46 Combination Chemotherapy in Treating Young Patients With Down Syndrome and Acute Myeloid Leukemia or Myelodysplastic Syndromes Completed NCT00369317 Phase 3 asparaginase;daunorubicin hydrochloride;cytarabine;thioguanine;etoposide
47 Low-Dose or High-Dose Conditioning Followed by Peripheral Blood Stem Cell Transplant in Treating Patients With Myelodysplastic Syndrome or Acute Myelogenous Leukemia Completed NCT00322101 Phase 3 cyclophosphamide;mycophenolate mofetil;busulfan;cyclosporine;fludarabine phosphate;tacrolimus;methotrexate
48 Chemotherapy in Treating Children With Down Syndrome and Myeloproliferative Disorder, Acute Myelogenous Leukemia, or Myelodysplastic Syndrome Completed NCT00003593 Phase 3 asparaginase;cytarabine;daunorubicin hydrochloride;methotrexate;therapeutic hydrocortisone;thioguanine
49 Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability Recruiting NCT02270736 Phase 3 IncobotulinumtoxinA;Placebo
50 Clinical Trial for Asses the Safety and Efficacy of Vitamin C and Vitamin E in Combination Versus Placebo for Treating Cognitive and Behavior Disorder in Children With Fragile X Syndrome Recruiting NCT02942498 Phase 3 Vitamin C 10mg/Kg Vitamin E 10 mg/Kg;Placebo

Search NIH Clinical Center for Intellectual Disability

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Intellectual Disability

Genetic tests related to Intellectual Disability:

id Genetic test Affiliating Genes
1 Intellectual Disability 29 24

Anatomical Context for Intellectual Disability

MalaCards organs/tissues related to Intellectual Disability:

39
Brain, Testes, Bone, Myeloid, Thyroid, Heart, Endothelial

Publications for Intellectual Disability

Articles related to Intellectual Disability:

(show top 50) (show all 1137)
id Title Authors Year
1
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features. ( 28686853 )
2017
2
Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformation. ( 28453519 )
2017
3
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome. ( 28343630 )
2017
4
MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability. ( 28633435 )
2017
5
Expanding the genetic heterogeneity of intellectual disability. ( 28940097 )
2017
6
Novel LINS1 missense mutation in a family with non-syndromic intellectual disability. ( 28181389 )
2017
7
Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function. ( 28127865 )
2017
8
Environment as therapy: neuroscience for intellectual disability and dementia. ( 28086230 )
2017
9
Isolated chromosome 8p23.2a89pter deletion: Novel evidence for developmental delay, intellectual disability, microcephaly and neurobehavioral disorders. ( 28901431 )
2017
10
Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. ( 27598823 )
2017
11
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. ( 28575647 )
2017
12
Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping. ( 27102954 )
2017
13
WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family. ( 27983999 )
2017
14
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. ( 28251352 )
2017
15
Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability. ( 27787898 )
2017
16
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH). ( 28783747 )
2017
17
Identification of C12orf4 as a gene for autosomal recessive intellectual disability. ( 27311568 )
2017
18
EIF2S3 Mutations Associated with Severe X-linked Intellectual Disability Syndrome MEHMO. ( 28055140 )
2017
19
Progressive Encephalomyelitis with Rigidity and Myoclonus in an Intellectually Disabled Patient Mimicking Neuroleptic Malignant Syndrome. ( 28352055 )
2017
20
Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. ( 28051072 )
2017
21
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. ( 27431290 )
2017
22
Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy. ( 28434495 )
2017
23
Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly. ( 28257693 )
2017
24
Self-injurious behaviour in people with intellectual disability and autism spectrum disorder. ( 28030375 )
2017
25
Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis. ( 28463240 )
2017
26
Intellectual disability, hate crime and other social constructions: A view from South Yorkshire. ( 28901202 )
2017
27
Pain underreporting associated with profound intellectual disability in emergency departments. ( 28054733 )
2017
28
Prevalence of psychotropic medication use and association with challenging behaviour in adults with an intellectual disability. A total population study. ( 28090687 )
2017
29
Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability. ( 28236339 )
2017
30
ADHD and Challenging behaviour in People with Intellectual Disability: should we screen for ADHD? ( 28953828 )
2017
31
Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability. ( 28794130 )
2017
32
Effects of music on seizure frequency in institutionalized subjects with severe/profound intellectual disability and drug-resistant epilepsy. ( 28953798 )
2017
33
Molecular Characterization of Koolen De Vries Syndrome in Two Girls with Idiopathic Intellectual Disability from Central Brazil. ( 28588437 )
2017
34
Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder? ( 28933790 )
2017
35
Psychiatric Comorbidity in Older Adults with Intellectual Disability. ( 28953835 )
2017
36
The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures. ( 28620718 )
2017
37
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. ( 28393272 )
2017
38
Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases. ( 28077840 )
2017
39
Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia. ( 28895081 )
2017
40
Holding Ashley (X): Bestowing Identity Through Caregiving in Profound Intellectual Disability. ( 28930704 )
2017
41
Acute respiratory infection, diarrhoea and fever in young children at-risk of intellectual disability in 24 low- and middle-income countries. ( 28057204 )
2017
42
Study on the use of Antipsychotic Medication in an Intellectual Disability (ID) community caseload. ( 28953833 )
2017
43
At-Home Transcranial Direct Current Stimulation in Prader-Willi Syndrome With Severe Intellectual Disability: A Case Study. ( 28383347 )
2017
44
Exome sequencing identifies a novel mutation of the GDI1 gene in a Chinese non-syndromic X-linked intellectual disability family. ( 28863211 )
2017
45
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability. ( 28724449 )
2017
46
The nationwide register-based prevalence of intellectual disability during childhood and adolescence. ( 28090701 )
2017
47
Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability. ( 28414775 )
2017
48
Altered fronto-striatal functions in the Gdi1-null mouse model of X-linked Intellectual Disability. ( 28057534 )
2017
49
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. ( 28343629 )
2017
50
Pharmacological rescue of adult hippocampal neurogenesis in a mouse model of X-linked intellectual disability. ( 28088401 )
2017

Variations for Intellectual Disability

ClinVar genetic disease variations for Intellectual Disability:

6 (show top 50) (show all 78)
id Gene Variation Type Significance SNP ID Assembly Location
1 CUL4B NM_003588.3(CUL4B): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs121434616 GRCh37 Chromosome X, 119678034: 119678034
2 MED12 NM_005120.2(MED12): c.2881C> T (p.Arg961Trp) single nucleotide variant Pathogenic rs80338758 GRCh37 Chromosome X, 70347217: 70347217
3 SLC16A2 NM_006517.4(SLC16A2): c.1190T> C (p.Leu397Pro) single nucleotide variant Pathogenic rs122455132 GRCh37 Chromosome X, 73749067: 73749067
4 ATRX NM_000489.4(ATRX): c.109C> T (p.Arg37Ter) single nucleotide variant Pathogenic rs122445108 GRCh37 Chromosome X, 76972632: 76972632
5 MECP2 NM_004992.3(MECP2): c.419C> T (p.Ala140Val) single nucleotide variant Pathogenic/Likely pathogenic rs28934908 GRCh37 Chromosome X, 153296860: 153296860
6 MECP2 NM_004992.3(MECP2): c.916C> T (p.Arg306Cys) single nucleotide variant Pathogenic rs28935468 GRCh37 Chromosome X, 153296363: 153296363
7 MECP2 NM_004992.3(MECP2): c.502C> T (p.Arg168Ter) single nucleotide variant Pathogenic rs61748421 GRCh37 Chromosome X, 153296777: 153296777
8 VPS13B NM_017890.4(VPS13B): c.11314C> T (p.Gln3772Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834061 GRCh37 Chromosome 8, 100880540: 100880540
9 VPS13B NM_017890.4(VPS13B): c.1219C> T (p.Gln407Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386834070 GRCh37 Chromosome 8, 100146872: 100146872
10 PHC1 NM_004426.2(PHC1): c.2974C> T (p.Leu992Phe) single nucleotide variant Pathogenic/Likely pathogenic rs587777036 GRCh37 Chromosome 12, 9092014: 9092014
11 HCFC1 NM_005334.2(HCFC1): c.218C> T (p.Ala73Val) single nucleotide variant Pathogenic rs397515486 GRCh37 Chromosome X, 153230153: 153230153
12 TCF4 NM_001083962.1(TCF4): c.514_517delAAAG (p.Lys172Phefs) deletion Pathogenic rs398123561 GRCh37 Chromosome 18, 53017622: 53017625
13 AHDC1 NM_001029882.3(AHDC1): c.2373_2374delTG (p.Cys791Trpfs) deletion Pathogenic rs587779766 GRCh37 Chromosome 1, 27876253: 27876254
14 AHDC1 NM_001029882.3(AHDC1): c.2898delC (p.Tyr967Thrfs) deletion Pathogenic rs587779767 GRCh37 Chromosome 1, 27875729: 27875729
15 AHDC1 NM_001029882.3(AHDC1): c.2547delC (p.Ser850Profs) deletion Pathogenic rs587779768 GRCh37 Chromosome 1, 27876080: 27876080
16 PURA NM_005859.4(PURA): c.812_814delTCT (p.Phe271del) deletion Pathogenic rs587782991 GRCh38 Chromosome 5, 140114993: 140114995
17 PURA NM_005859.4(PURA): c.307_308delTC (p.Ser103Hisfs) deletion Pathogenic rs587782992 GRCh38 Chromosome 5, 140114488: 140114489
18 PURA NM_005859.4(PURA): c.556C> T (p.Gln186Ter) single nucleotide variant Pathogenic rs587782993 GRCh38 Chromosome 5, 140114737: 140114737
19 PURA NM_005859.4(PURA): c.289A> G (p.Lys97Glu) single nucleotide variant Pathogenic rs587782994 GRCh38 Chromosome 5, 140114470: 140114470
20 PURA NM_005859.4(PURA): c.299T> C (p.Leu100Pro) single nucleotide variant Pathogenic rs587782995 GRCh37 Chromosome 5, 139494065: 139494065
21 PURA NM_005859.4(PURA): c.363C> G (p.Tyr121Ter) single nucleotide variant Pathogenic rs587782996 GRCh38 Chromosome 5, 140114544: 140114544
22 PURA NM_005859.4(PURA): c.783C> G (p.Tyr261Ter) single nucleotide variant Pathogenic rs587782997 GRCh37 Chromosome 5, 139494549: 139494549
23 PURA NM_005859.4(PURA): c.470T> A (p.Met157Lys) single nucleotide variant Pathogenic rs587782998 GRCh37 Chromosome 5, 139494236: 139494236
24 PURA NM_005859.4(PURA): c.265G> C (p.Ala89Pro) single nucleotide variant Pathogenic rs587782999 GRCh37 Chromosome 5, 139494031: 139494031
25 PURA NM_005859.4(PURA): c.263_265delTCG (p.Ile88_Ala89delinsThr) deletion Pathogenic rs587783000 GRCh38 Chromosome 5, 140114444: 140114446
26 PURA NM_005859.4(PURA): c.596G> C (p.Arg199Pro) single nucleotide variant Pathogenic rs587783001 GRCh38 Chromosome 5, 140114777: 140114777
27 subset of 12 genes:DYRK1A NC_000021.8: g.(?_38007970)_(39747620_?)del deletion Pathogenic GRCh37 Chromosome 21, 38007970: 39747620
28 DYRK1A NM_001396.3(DYRK1A): c.613C> T (p.Arg205Ter) single nucleotide variant Pathogenic rs724159949 GRCh38 Chromosome 21, 37486563: 37486563
29 DYRK1A NM_001396.3(DYRK1A): c.621_624delTGAGinsGAA (p.Glu208Asnfs) indel Pathogenic rs724159950 GRCh38 Chromosome 21, 37486571: 37486574
30 DYRK1A NM_001396.3(DYRK1A): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs724159948 GRCh38 Chromosome 21, 37490273: 37490273
31 DYRK1A NM_001396.4(DYRK1A): c.844dup (p.Ser282Lysfs) duplication Pathogenic rs724159954 GRCh38 Chromosome 21, 37490354: 37490354
32 DYRK1A NM_001396.4(DYRK1A): c.945dup (p.Gln316Alafs) duplication Pathogenic rs724159952 GRCh38 Chromosome 21, 37490455: 37490455
33 DYRK1A NM_001396.4(DYRK1A): c.1232dup (p.Arg413Thrfs) duplication Pathogenic rs724159956 GRCh38 Chromosome 21, 37496251: 37496251
34 DYRK1A NM_001396.3(DYRK1A): c.1309C> T (p.Arg437Ter) single nucleotide variant Pathogenic rs724159953 GRCh38 Chromosome 21, 37505352: 37505352
35 KAT6A NM_006766.4(KAT6A): c.3116_3117delCT (p.Ser1039Terfs) deletion Pathogenic rs786200959 GRCh37 Chromosome 8, 41795009: 41795010
36 LOC101927919; NUS1; SLC35F1 NC_000006.12 deletion Pathogenic GRCh37 Chromosome 6, 117961791: 118280044
37 LOC101927919; NUS1 NC_000006.12 deletion Pathogenic GRCh37 Chromosome 6, 117971549: 118218720
38 covers 24 genes, none of which curated to show dosage sensitivity NC_000006.11 deletion Pathogenic GRCh37 Chromosome 6, 116681080: 119775014
39 KAT6A NM_006766.4(KAT6A): c.3879dupA (p.Glu1294Argfs) duplication Pathogenic rs786200952 GRCh38 Chromosome 8, 41934341: 41934341
40 COG6 NM_020751.2(COG6): c.1167-24A> G single nucleotide variant Pathogenic/Likely pathogenic rs730882236 GRCh38 Chromosome 13, 39699477: 39699477
41 SLC2A1 NM_006516.2(SLC2A1): c.724C> T (p.Gln242Ter) single nucleotide variant Pathogenic rs794729221 GRCh37 Chromosome 1, 43395407: 43395407
42 EBF3 NM_001005463.2(EBF3): c.1101+1G> T single nucleotide variant Pathogenic rs797046136 GRCh37 Chromosome 10, 131646655: 131646655
43 MED13L NM_015335.4(MED13L): c.6118_6125delGGCATATT (p.Gly2040Asnfs) deletion Pathogenic rs869025287 GRCh37 Chromosome 12, 116406845: 116406852
44 GNB1 NM_002074.4(GNB1): c.976G> A (p.Ala326Thr) single nucleotide variant Pathogenic rs869312826 GRCh37 Chromosome 1, 1718817: 1718817
45 GNB1 NM_002074.4(GNB1): c.301A> G (p.Met101Val) single nucleotide variant Pathogenic/Likely pathogenic rs869312825 GRCh37 Chromosome 1, 1735987: 1735987
46 GNB1 NM_002074.4(GNB1): c.284T> C (p.Leu95Pro) single nucleotide variant Pathogenic rs869312824 GRCh37 Chromosome 1, 1736004: 1736004
47 GNB1 NM_002074.4(GNB1): c.227A> G (p.Asp76Gly) single nucleotide variant Pathogenic rs869312821 GRCh38 Chromosome 1, 1806515: 1806515
48 GRIN1 NM_007327.3(GRIN1): c.1670C> G (p.Pro557Arg) single nucleotide variant Pathogenic rs878853143 GRCh38 Chromosome 9, 137162209: 137162209
49 RAI1 NM_030665.3(RAI1): c.2332_2336delGGCAT (p.Gly778Glnfs) deletion Pathogenic rs878853142 GRCh38 Chromosome 17, 17795280: 17795284
50 TCF4 NM_001083962.1(TCF4): c.520C> T (p.Arg174Ter) single nucleotide variant Pathogenic rs878853149 GRCh38 Chromosome 18, 55350388: 55350388

Copy number variations for Intellectual Disability from CNVD:

7 (show top 50) (show all 230)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 14809 1 110328830 110367887 Amplification AHCYL1 Intellectual disability
2 18404 1 145479805 145564639 Amplification BCL9 Intellectual disability
3 20790 1 154318992 154376502 Deletion LMNA Intellectual disability
4 25568 1 191357783 191487679 Deletion CDC73 Intellectual disability
5 26008 1 195504030 195714208 Amplification CRB1 Intellectual disability
6 26062 1 196392816 196555392 Deletion NEK7 Intellectual disability
7 27599 1 21005560 21375927 Deletion EIF4G3 Intellectual disability
8 29199 1 228844880 228896351 Amplification COG2 Intellectual disability
9 29770 1 235537560 237086860 Deletion Intellectual disability
10 33809 1 48460990 48486903 Deletion SLC5A9 Intellectual disability
11 34281 1 54291861 54350780 Deletion C1orf83 Intellectual disability
12 35404 1 63278601 174979260 Duplication Intellectual disability
13 35871 1 68336738 68470841 Amplification GPR177 Intellectual disability
14 36503 1 76466419 77200494 Duplication Intellectual disability
15 37402 1 90483825 90786224 Duplication Intellectual disability
16 38249 10 100208866 100985609 Amplification HPSE2 Intellectual disability
17 39670 10 118177413 118227458 Amplification PNLIPRP3 Intellectual disability
18 40487 10 128662416 129042087 Deletion Intellectual disability
19 41143 10 13725711 14412872 Deletion FRMD4A Intellectual disability
20 42897 10 42100000 46100000 Deletion ZNF487 Intellectual disability
21 43203 10 45480000 51585000 Deletion Intellectual disability
22 43209 10 45512000 51585000 Deletion Intellectual disability
23 43225 10 45612000 51585000 Deletion Intellectual disability
24 43250 10 45927753 51581847 Deletion Intellectual disability
25 43254 10 45947671 51263703 Deletion Intellectual disability
26 43263 10 45979000 56907000 Deletion Intellectual disability
27 43292 10 46100000 53300000 Deletion Intellectual disability
28 43382 10 46384979 51265056 Deletion Intellectual disability
29 43389 10 46384979 52085077 Deletion Intellectual disability
30 43411 10 46400346 51237832 Deletion Intellectual disability
31 43734 10 48871525 50765047 Deletion Intellectual disability
32 43745 10 48941000 52218000 Deletion Intellectual disability
33 43760 10 49062854 52062367 Deletion Intellectual disability
34 43770 10 49121974 50641724 Deletion Intellectual disability
35 43868 10 50239677 50581445 Duplication Intellectual disability
36 43876 10 50334496 50417153 Deletion ERCC6 Intellectual disability
37 49425 11 106880543 106941637 Amplification ALKBH8 Intellectual disability
38 49436 11 106967286 107042715 Amplification ELMOD1 Intellectual disability
39 51015 11 121813520 134447248 Deletion Intellectual disability
40 51445 11 12633728 121813520 Deletion Intellectual disability
41 51830 11 131586860 131711926 Amplification HNT Intellectual disability
42 52967 11 22232079 25091772 Deletion Intellectual disability
43 55056 11 48800000 51400000 Duplication Intellectual disability
44 58769 11 6934067 9220605 Duplication ZNF214 Intellectual disability
45 59763 11 77603989 77806414 Amplification GAB2 Intellectual disability
46 61307 11 98397080 99732683 Amplification CNTN5 Intellectual disability
47 66448 12 29384845 29425410 Amplification ERGIC2 Intellectual disability
48 66460 12 29545023 29828959 Amplification TMTC1 Intellectual disability
49 66846 12 33200000 35400000 Duplication Intellectual disability
50 71529 12 7138290 7153069 Deletion C1RL Intellectual disability

Expression for Intellectual Disability

Search GEO for disease gene expression data for Intellectual Disability.

Pathways for Intellectual Disability

Pathways related to Intellectual Disability according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.77 DYRK1A FMR1 GRIN1 MECP2
2 11.39 ATRX HCFC1 KDM5C MECP2 MED12

GO Terms for Intellectual Disability

Cellular components related to Intellectual Disability according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.83 ANKRD11 ATRX BRPF1 CUL4B DYRK1A EBF3
2 postsynaptic membrane GO:0045211 9.56 FMR1 GRIN1 IL1RAPL1 SHANK3
3 dendritic spine GO:0043197 9.5 FMR1 GRIN1 SHANK3
4 nucleoplasm GO:0005654 9.36 ANKRD11 ATRX BRPF1 CUL4B DYRK1A FMR1
5 MOZ/MORF histone acetyltransferase complex GO:0070776 9.16 BRPF1 KAT6A

Biological processes related to Intellectual Disability according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.9 ATRX BRPF1 EBF3 HCFC1 KAT6A KDM5C
2 memory GO:0007613 9.63 GRIN1 MECP2 SHANK3
3 learning GO:0007612 9.58 GRIN1 MECP2 SHANK3
4 social behavior GO:0035176 9.54 GRIN1 MECP2 SHANK3
5 positive regulation of excitatory postsynaptic potential GO:2000463 9.52 GRIN1 SHANK3
6 positive regulation of dendritic spine development GO:0060999 9.51 FMR1 SHANK3
7 positive regulation of transcription, DNA-templated GO:0045893 9.5 BRPF1 EBF3 KAT6A MECP2 MED12 PHF8
8 neuromuscular process GO:0050905 9.49 GRIN1 MECP2
9 startle response GO:0001964 9.48 GRIN1 MECP2
10 cellular response to hydroxyurea GO:0072711 9.43 ATRX FMR1
11 regulation of synaptic plasticity GO:0048167 9.43 GRIN1 MECP2 SHANK3
12 covalent chromatin modification GO:0016569 9.1 ATRX BRPF1 HCFC1 KAT6A KDM5C PHF8
13 transcription, DNA-templated GO:0006351 10.02 ATRX BRPF1 EBF3 KAT6A KDM5C MECP2
14 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.01 ATRX EBF3 GRIN1 HCFC1 MED12 TCF4

Molecular functions related to Intellectual Disability according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 histone demethylase activity GO:0032452 9.37 KDM5C PHF8
2 protein self-association GO:0043621 9.33 DYRK1A SHANK3 TCF4
3 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors GO:0016706 9.32 KDM5C PHF8
4 siRNA binding GO:0035197 9.26 FMR1 MECP2
5 chromatin binding GO:0003682 9.17 ATRX FMR1 HCFC1 MECP2 MED12 PHF8
6 methylated histone binding GO:0035064 9.13 ATRX FMR1 PHF8

Sources for Intellectual Disability

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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