MCID: INT063
MIFTS: 49

Intellectual Disability malady

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

Aliases & Classifications for Intellectual Disability

Aliases & Descriptions for Intellectual Disability:

Name: Intellectual Disability 24 29 69

Classifications:



Summaries for Intellectual Disability

MalaCards based summary : Intellectual Disability is related to alpha thalassemia-x-linked intellectual disability syndrome and non-syndromic x-linked intellectual disability, and has symptoms including lethargy and neurobehavioral manifestations. An important gene associated with Intellectual Disability is MED13L (Mediator Complex Subunit 13 Like). The drugs Dopamine and Vigabatrin have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and breast.

Wikipedia : 71 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 Autosomal Dominant Intellectual Disability 30
Ddx3x-Related Intellectual Disability Hivep2-Related Intellectual Disability
Cask-Related Intellectual Disability Syngap1-Related Intellectual Disability
Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

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

(show top 50) (show all 983)
id Related Disease Score Top Affiliating Genes
1 alpha thalassemia-x-linked intellectual disability syndrome 12.2
2 non-syndromic x-linked intellectual disability 12.1
3 blepharophimosis intellectual disability syndromes 12.1
4 non-syndromic intellectual disability 12.1
5 hivep2-related intellectual disability 12.1
6 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 12.0
7 syndromic x-linked intellectual disability type 10 12.0
8 intellectual disability-severe speech delay-mild dysmorphism syndrome 12.0
9 syndromic x-linked intellectual disability 34 12.0
10 severe intellectual disability-progressive spastic diplegia syndrome 12.0
11 hypoparathyroidism-intellectual disability-dysmorphism syndrome 12.0
12 syndromic x-linked intellectual disability 7 12.0
13 autosomal dominant non-syndromic intellectual disability 12.0
14 intellectual disability-developmental delay-contractures syndrome 12.0
15 syngap1-related intellectual disability 12.0
16 syndromic x-linked intellectual disability siderius type 12.0
17 cask-related intellectual disability 12.0
18 mbd25-related intellectual disability 12.0
19 x-linked intellectual disability, siderius type 12.0
20 syngap1-related non-syndromic intellectual disability 12.0
21 autosomal recessive non-syndromic intellectual disability 12.0
22 syndromic x-linked intellectual disability 12 12.0
23 syndromic x-linked intellectual disability shashi type 12.0
24 syndromic x-linked intellectual disability abidi type 12.0
25 syndromic x-linked intellectual disability 14 12.0
26 syndromic x-linked intellectual disability 12.0
27 dandy-walker malformation with intellectual disability, basal ganglia disease and seizures 11.9
28 autosomal dominant intellectual disability 30 11.9
29 autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to tud deficiency 11.9
30 adnp-related intellectual disability and autism spectrum disorder 11.9
31 dyrk1a-related intellectual disability syndrome 11.9
32 x-linked intellectual disability, najm type 11.9
33 alpha thalassemia-intellectual disability syndrome type 1 11.8
34 intellectual disability - athetosis - microphthalmia 11.8
35 arachnodactyly - intellectual disability - dysmorphism 11.8
36 x-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis 11.8
37 congenital insensitivity to pain with severe intellectual disability 11.8
38 aniridia - ptosis - intellectual disability - familial obesity 11.8
39 intellectual disability - hypoplastic corpus callosum - preauricular tag 11.8
40 rare intellectual disability without developmental anomaly 11.8
41 x-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability 11.8
42 trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina 11.8
43 focal epilepsy-intellectual disability-cerebro-cerebellar malformation 11.8
44 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome 11.8
45 brachydactyly-mesomelia-intellectual disability-heart defects syndrome 11.8
46 male pseudohermaphroditism intellectual disability syndrome, verloes type 11.8
47 x-linked intellectual disability with or without nystagmus 11.8
48 x-linked intellectual disability, shashi type 11.8
49 x-linked intellectual disability, abidi type 11.8
50 x-linked intellectual disability, cilliers type 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

Drugs & Therapeutics for Intellectual Disability

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

(show top 50) (show all 414)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
2
Vigabatrin Approved Phase 4 68506-86-5, 60643-86-9 5665
3
Tiagabine Approved Phase 4 115103-54-3 60648
4
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
5
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
6
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
7
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
8
Phenobarbital Approved Phase 4 50-06-6 4763
9
Valproic Acid Approved, Investigational Phase 4,Phase 2 99-66-1 3121
10
Memantine Approved, Investigational Phase 4,Phase 2 19982-08-2 4054
11
Topiramate Approved Phase 4,Phase 3 97240-79-4 5284627
12
Methylphenidate Approved, Investigational Phase 4,Phase 2 113-45-1 4158
13
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 50-24-8 5755
14
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
15
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
16
Felbamate Approved Phase 4 25451-15-4 3331
17
Clonazepam Approved, Illicit Phase 4 1622-61-3 2802
18
Oxcarbazepine Approved Phase 4 28721-07-5 34312
19
Pregabalin Approved, Illicit, Investigational Phase 4 148553-50-8 5486971
20
Ethosuximide Approved Phase 4 77-67-8 3291
21
Clobazam Approved, Illicit Phase 4 22316-47-8 2789
22
Nitrazepam Approved Phase 4 146-22-5 4506
23
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3 83-43-2 6741
24
Celiprolol Approved, Investigational Phase 4 56980-93-9
25
Lovastatin Approved, Investigational Phase 4,Phase 2 75330-75-5 53232
26
Risperidone Approved, Investigational Phase 4,Phase 3 106266-06-2 5073
27
Riluzole Approved, Investigational Phase 4 1744-22-5 5070
28
Milnacipran Approved Phase 4 92623-85-3 65833
29
Liraglutide Approved Phase 4,Phase 3 204656-20-2
30 Prednisolone acetate Phase 4,Phase 2,Phase 3
31
Serotonin Phase 4,Phase 3,Phase 2 50-67-9 5202
32 Serotonin Agents Phase 4,Phase 3,Phase 2
33 Adrenergic Agents Phase 4,Phase 2
34 Serotonin Uptake Inhibitors Phase 4,Phase 3,Phase 2
35 Neuroprotective Agents Phase 4,Phase 3,Phase 2,Phase 1
36 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
37 Neurotransmitter Uptake Inhibitors Phase 4,Phase 3,Phase 2
38 Hormone Antagonists Phase 4,Phase 3,Phase 2
39 Hormones Phase 4,Phase 3,Phase 2
40 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
41 Dopamine Agents Phase 4,Phase 3,Phase 2,Phase 1
42 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2
43 Dopamine Uptake Inhibitors Phase 4,Phase 2
44 Anti-Arrhythmia Agents Phase 4,Phase 3,Phase 2
45 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Phase 1
46 Etiracetam Phase 4
47 Excitatory Amino Acid Antagonists Phase 4,Phase 3,Phase 2,Phase 1
48 Prednisolone hemisuccinate Phase 4,Phase 2,Phase 3
49 Excitatory Amino Acids Phase 4,Phase 3,Phase 2,Phase 1
50 Prednisolone phosphate Phase 4,Phase 2,Phase 3

Interventional clinical trials:

(show top 50) (show all 572)
id Name Status NCT ID Phase
1 Ketogenic Diet vs.Antiepileptic Drug Treatment in Drug Resistant Epilepsy Unknown status NCT00552526 Phase 4
2 Topiramate Treatment for Patients With Epilepsy and Learning Disability : A Prospective Observational Study Unknown status NCT00956696 Phase 4
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
6 Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type Completed NCT00190411 Phase 4
7 Riluzole in Fragile X Syndrome Completed NCT00895752 Phase 4
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
10 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4
11 Combining Lovastatin and a Parent-Implemented Language Intervention for Fragile X Syndrome Recruiting NCT02642653 Phase 4
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
13 The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome Recruiting NCT00768820 Phase 4
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
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
18 Self-Injury: Diagnosis and Treatment Unknown status NCT00065936 Phase 3
19 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3
20 Magnesium Sulfate to Prevent Brain Injury in Premature Infants Unknown status NCT00065949 Phase 3
21 Independent Studies of Dextromethorphan and of Donepezil Hydrochloride for Rett Syndrome Unknown status NCT00069550 Phase 3
22 Growth Hormone Use in Adults With Prader-Willi Syndrome Unknown status NCT00444964 Phase 3
23 Vitamin E in Aging Persons With Down Syndrome Unknown status NCT00056329 Phase 3
24 Effect of Rimonabant on Weight Gain and Body Composition in Adults With Prader Willi Syndrome Unknown status NCT00603109 Phase 3
25 Vibration and Cold for Pain Relief During Peripheral Intravenous Cannulation in Children With Intellectual Disability Completed NCT02434731 Phase 3
26 Atypical Neuroleptic Drugs in People With Mental Retardation/Developmental Delay Completed NCT00065273 Phase 3
27 Akathisia (Restless Legs Syndrome) in People With Schizophrenia and Mental Retardation Completed NCT00065286 Phase 3
28 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
29 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
30 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
31 Short-Term vs. Long-Term Valganciclovir Therapy for Symptomatic Congenital CMV Infections Completed NCT00466817 Phase 3
32 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
33 Efficacy and Safety Study of STX209 (Arbaclofen) for the Treatment of Social Withdrawal in Children With Fragile X Syndrome Completed NCT01325220 Phase 3
34 Efficacy and Safety Study of STX209 (Arbaclofen) for Social Withdrawal in Adolescents and Adults With Fragile X Syndrome Completed NCT01282268 Phase 3
35 Safety and Efficacy of Hunterase Completed NCT01645189 Phase 3
36 Acamprosate in Youth With Fragile X Syndrome Completed NCT01300923 Phase 3
37 Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase Completed NCT00630747 Phase 2, Phase 3
38 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3
39 Iduronate-2-sulfatase Enzyme Replacement Therapy in Mucopolysaccharidosis II (MPS II) Completed NCT00069641 Phase 2, Phase 3
40 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid Completed NCT00007020 Phase 3
41 Study of the Efficacy of Topiramate in Patients With Prader Willi Syndrome Over 8 Weeks Completed NCT02810483 Phase 3
42 Efficacy Study of Folinic Acid to Improve Mental Development of Children With Down Syndrome Completed NCT00294593 Phase 2, Phase 3
43 Multicenter Vitamin E Trial in Aging Persons With Down Syndrome Completed NCT01594346 Phase 3
44 Combination Chemotherapy in Treating Young Patients With Down Syndrome and Acute Myeloid Leukemia or Myelodysplastic Syndromes Completed NCT00369317 Phase 3
45 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
46 Chemotherapy in Treating Children With Down Syndrome and Myeloproliferative Disorder, Acute Myelogenous Leukemia, or Myelodysplastic Syndrome Completed NCT00003593 Phase 3
47 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
48 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
49 Study of Acamprosate in Fragile x Syndrome Recruiting NCT01911455 Phase 2, Phase 3
50 A Phase 2/3 Study of the Efficacy and Safety of Hematopoietic Stem Cells Transduced With Lenti-D Lentiviral Vector for the Treatment of Cerebral Adrenoleukodystrophy (CALD) Recruiting NCT01896102 Phase 2, Phase 3

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, Breast, Heart, Bone, Thyroid, Skin

Publications for Intellectual Disability

Articles related to Intellectual Disability:

(show top 50) (show all 1067)
id Title Authors Year
1
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation. ( 27939640 )
2017
2
Acute respiratory infection, diarrhoea and fever in young children at-risk of intellectual disability in 24 low- and middle-income countries. ( 28057204 )
2017
3
Pain underreporting associated with profound intellectual disability in emergency departments. ( 28054733 )
2017
4
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. ( 28017373 )
2017
5
Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability. ( 27993705 )
2017
6
Intellectual Disability and Being Human: A Care Ethics Model Rogers Chrissie Intellectual Disability and Being Human: A Care Ethics Model 174pp AL95 Routledge 9780415664585 0415664586 [Formula: see text]. ( 28075310 )
2017
7
Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability. ( 27787898 )
2017
8
Intellectual disability in patients with MODY due to hepatocyte nuclear factor 1B (HNF1B) molecular defects. ( 27838256 )
2017
9
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome. ( 28343630 )
2017
10
Pharmacological rescue of adult hippocampal neurogenesis in a mouse model of X-linked intellectual disability. ( 28088401 )
2017
11
At-Home Transcranial Direct Current Stimulation in Prader-Willi Syndrome With Severe Intellectual Disability: A Case Study. ( 28383347 )
2017
12
Self-injurious behaviour in people with intellectual disability and autism spectrum disorder. ( 28030375 )
2017
13
Altered fronto-striatal functions in the Gdi1-null mouse model of X-linked Intellectual Disability. ( 28057534 )
2017
14
A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins. ( 28126652 )
2017
15
The nationwide register-based prevalence of intellectual disability during childhood and adolescence. ( 28090701 )
2017
16
Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases. ( 28077840 )
2017
17
Intellectual disability and patient activation after release from prison: a prospective cohort study. ( 28090702 )
2017
18
The Support Needs of Children with Intellectual Disability and Autism: Implications for Supports Planning and Subgroup Classification. ( 28070781 )
2017
19
Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly. ( 28257693 )
2017
20
Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function. ( 28127865 )
2017
21
Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability. ( 28414775 )
2017
22
Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. ( 28051072 )
2017
23
Loss of Function of KCNC1 is associated with intellectual disability without seizures. ( 28145425 )
2017
24
Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability. ( 28236339 )
2017
25
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features. ( 28343629 )
2017
26
The experience of adult children of mothers with intellectual disability: A qualitative retrospective study from Poland. ( 28070932 )
2017
27
EIF2S3 Mutations Associated with Severe X-linked Intellectual Disability Syndrome MEHMO. ( 28055140 )
2017
28
Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen-Goldberg syndrome: a report on a family over 4 generations: Case report. ( 28328806 )
2017
29
WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family. ( 27983999 )
2017
30
Adaptive and maladaptive functioning in Kleefstra syndrome compared to other rare genetic disorders with intellectual disabilities. ( 28498556 )
2017
31
Prevalence of psychotropic medication use and association with challenging behaviour in adults with an intellectual disability. A total population study. ( 28090687 )
2017
32
Identification of C12orf4 as a gene for autosomal recessive intellectual disability. ( 27311568 )
2017
33
Environment as therapy: neuroscience for intellectual disability and dementia. ( 28086230 )
2017
34
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability. ( 28132689 )
2017
35
De novo mutations in SON disrupt RNA splicing of genes essential for brain development and metabolism, causing an intellectual-disability syndrome. ( 27545680 )
2016
36
Transition to adulthood for young people with intellectual disability: the experiences of their families. ( 27170424 )
2016
37
Early onset of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene. ( 27145725 )
2016
38
A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability. ( 27222290 )
2016
39
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia. ( 27040691 )
2016
40
Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings. ( 26395437 )
2016
41
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability. ( 26751395 )
2016
42
Autism with intellectual disability is associated with increased levels of maternal cytokines and chemokines during gestation. ( 27217154 )
2016
43
Reported Wandering Behavior among Children with Autism Spectrum Disorder and/or Intellectual Disability. ( 27157446 )
2016
44
Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability. ( 27179618 )
2016
45
An 8.4-Mb 3q26.33-3q28 microdeletion in a patient with blepharophimosis-intellectual disability syndrome and a review of the literature. ( 27525095 )
2016
46
Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation. ( 26754451 )
2016
47
Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration. ( 26173967 )
2016
48
The X-Linked-Intellectual-Disability-Associated Ubiquitin Ligase Mid2 Interacts with Astrin and Regulates Astrin Levels to Promote Cell Division. ( 26748699 )
2016
49
Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity. ( 27465203 )
2016
50
Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R. ( 26689622 )
2016

Variations for Intellectual Disability

ClinVar genetic disease variations for Intellectual Disability:

6 (show top 50) (show all 70)
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 PHC1 NM_004426.2(PHC1): c.2974C> T (p.Leu992Phe) single nucleotide variant Pathogenic/Likely pathogenic rs587777036 GRCh37 Chromosome 12, 9092014: 9092014
10 HCFC1 NM_005334.2(HCFC1): c.218C> T (p.Ala73Val) single nucleotide variant Pathogenic rs397515486 GRCh37 Chromosome X, 153230153: 153230153
11 TCF4 NM_001083962.1(TCF4): c.514_517delAAAG (p.Lys172Phefs) deletion Pathogenic rs398123561 GRCh37 Chromosome 18, 53017622: 53017625
12 AHDC1 NM_001029882.3(AHDC1): c.2373_2374delTG (p.Cys791Trpfs) deletion Pathogenic rs587779766 GRCh37 Chromosome 1, 27876253: 27876254
13 AHDC1 NM_001029882.3(AHDC1): c.2898delC (p.Tyr967Thrfs) deletion Pathogenic rs587779767 GRCh37 Chromosome 1, 27875729: 27875729
14 AHDC1 NM_001029882.3(AHDC1): c.2547delC (p.Ser850Profs) deletion Pathogenic rs587779768 GRCh37 Chromosome 1, 27876080: 27876080
15 PURA NM_005859.4(PURA): c.812_814delTCT (p.Phe271del) deletion Pathogenic rs587782991 GRCh38 Chromosome 5, 140114993: 140114995
16 PURA NM_005859.4(PURA): c.307_308delTC (p.Ser103Hisfs) deletion Pathogenic rs587782992 GRCh38 Chromosome 5, 140114488: 140114489
17 PURA NM_005859.4(PURA): c.556C> T (p.Gln186Ter) single nucleotide variant Pathogenic rs587782993 GRCh38 Chromosome 5, 140114737: 140114737
18 PURA NM_005859.4(PURA): c.289A> G (p.Lys97Glu) single nucleotide variant Pathogenic rs587782994 GRCh38 Chromosome 5, 140114470: 140114470
19 PURA NM_005859.4(PURA): c.299T> C (p.Leu100Pro) single nucleotide variant Pathogenic rs587782995 GRCh37 Chromosome 5, 139494065: 139494065
20 PURA NM_005859.4(PURA): c.363C> G (p.Tyr121Ter) single nucleotide variant Pathogenic rs587782996 GRCh38 Chromosome 5, 140114544: 140114544
21 PURA NM_005859.4(PURA): c.783C> G (p.Tyr261Ter) single nucleotide variant Pathogenic rs587782997 GRCh37 Chromosome 5, 139494549: 139494549
22 PURA NM_005859.4(PURA): c.470T> A (p.Met157Lys) single nucleotide variant Pathogenic rs587782998 GRCh37 Chromosome 5, 139494236: 139494236
23 PURA NM_005859.4(PURA): c.265G> C (p.Ala89Pro) single nucleotide variant Pathogenic rs587782999 GRCh37 Chromosome 5, 139494031: 139494031
24 PURA NM_005859.4(PURA): c.263_265delTCG (p.Ile88_Ala89delinsThr) deletion Pathogenic rs587783000 GRCh38 Chromosome 5, 140114444: 140114446
25 PURA NM_005859.4(PURA): c.596G> C (p.Arg199Pro) single nucleotide variant Pathogenic rs587783001 GRCh38 Chromosome 5, 140114777: 140114777
26 subset of 12 genes:DYRK1A NC_000021.8: g.(?_38007970)_(39747620_?)del deletion Pathogenic GRCh37 Chromosome 21, 38007970: 39747620
27 DYRK1A NM_001396.3(DYRK1A): c.613C> T (p.Arg205Ter) single nucleotide variant Pathogenic rs724159949 GRCh38 Chromosome 21, 37486563: 37486563
28 DYRK1A NM_001396.3(DYRK1A): c.621_624delTGAGinsGAA (p.Glu208Asnfs) indel Pathogenic rs724159950 GRCh38 Chromosome 21, 37486571: 37486574
29 DYRK1A NM_001396.3(DYRK1A): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs724159948 GRCh38 Chromosome 21, 37490273: 37490273
30 DYRK1A NM_001396.4(DYRK1A): c.844dupA (p.Ser282Lysfs) duplication Pathogenic rs724159954 GRCh38 Chromosome 21, 37490354: 37490354
31 DYRK1A NM_001396.4(DYRK1A): c.945dupG (p.Gln316Alafs) duplication Pathogenic rs724159952 GRCh38 Chromosome 21, 37490455: 37490455
32 DYRK1A NM_001396.4(DYRK1A): c.1232dupG (p.Arg413Thrfs) duplication Pathogenic rs724159956 GRCh38 Chromosome 21, 37496251: 37496251
33 DYRK1A NM_001396.3(DYRK1A): c.1309C> T (p.Arg437Ter) single nucleotide variant Pathogenic rs724159953 GRCh38 Chromosome 21, 37505352: 37505352
34 KAT6A NM_006766.4(KAT6A): c.3116_3117delCT (p.Ser1039Terfs) deletion Pathogenic rs786200959 GRCh37 Chromosome 8, 41795009: 41795010
35 LOC101927919; NUS1; SLC35F1 NC_000006.12 deletion Pathogenic GRCh38 Chromosome 6, 117640628: 117958881
36 LOC101927919; NUS1 NC_000006.12 deletion Pathogenic GRCh37 Chromosome 6, 117971549: 118218720
37 covers 24 genes, none of which curated to show dosage sensitivity NC_000006.11 deletion Pathogenic GRCh37 Chromosome 6, 116681080: 119775014
38 KAT6A NM_006766.4(KAT6A): c.3879dupA (p.Glu1294Argfs) duplication Pathogenic rs786200952 GRCh38 Chromosome 8, 41934341: 41934341
39 COG6 NM_020751.2(COG6): c.1167-24A> G single nucleotide variant Pathogenic/Likely pathogenic rs730882236 GRCh38 Chromosome 13, 39699477: 39699477
40 SLC2A1 NM_006516.2(SLC2A1): c.724C> T (p.Gln242Ter) single nucleotide variant Pathogenic rs794729221 GRCh37 Chromosome 1, 43395407: 43395407
41 EBF3 NM_001005463.2(EBF3): c.1101+1G> T single nucleotide variant Pathogenic rs797046136 GRCh37 Chromosome 10, 131646655: 131646655
42 MED13L NM_015335.4(MED13L): c.6118_6125delGGCATATT (p.Gly2040Asnfs) deletion Pathogenic rs869025287 GRCh37 Chromosome 12, 116406845: 116406852
43 EBF3 NM_001005463.2(EBF3): c.530C> T (p.Pro177Leu) single nucleotide variant Pathogenic rs869312668 GRCh37 Chromosome 10, 131755546: 131755546
44 TCF20 NM_005650.3(TCF20): c.5385_5386delTG (p.Cys1795Trpfs) deletion Pathogenic rs869312678 GRCh37 Chromosome 22, 42605926: 42605927
45 GNB1 NM_002074.4(GNB1): c.976G> A (p.Ala326Thr) single nucleotide variant Pathogenic rs869312826 GRCh37 Chromosome 1, 1718817: 1718817
46 GNB1 NM_002074.4(GNB1): c.301A> G (p.Met101Val) single nucleotide variant Pathogenic/Likely pathogenic rs869312825 GRCh37 Chromosome 1, 1735987: 1735987
47 GNB1 NM_002074.4(GNB1): c.284T> C (p.Leu95Pro) single nucleotide variant Pathogenic rs869312824 GRCh37 Chromosome 1, 1736004: 1736004
48 GNB1 NM_002074.4(GNB1): c.227A> G (p.Asp76Gly) single nucleotide variant Pathogenic rs869312821 GRCh38 Chromosome 1, 1806515: 1806515
49 GRIN1 NM_007327.3(GRIN1): c.1670C> G (p.Pro557Arg) single nucleotide variant Pathogenic rs878853143 GRCh37 Chromosome 9, 140056661: 140056661
50 RAI1 NM_030665.3(RAI1): c.2332_2336delGGCAT (p.Gly778Glnfs) deletion Pathogenic rs878853142 GRCh37 Chromosome 17, 17698594: 17698598

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

GO Terms for Intellectual Disability

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

id Name GO ID Score Top Affiliating Genes
1 cognition GO:0050890 8.8 PTCHD1 SLC1A4 SOBP

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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