MCID: INT063
MIFTS: 50

Intellectual Disability malady

Genetic diseases (common), Fetal diseases, Neuronal diseases, Mental diseases categories

Summaries for Intellectual Disability

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Sources:
9Disease Ontology, 66Wikipedia, 48OMIM, 34MalaCards
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Disease Ontology:9 A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills.

MalaCards: Intellectual Disability, also known as mental retardation, autosomal recessive 15, is related to short stature and microcephaly. An important gene associated with Intellectual Disability is MAN1B1 (mannosidase, alpha, class 1B, member 1). Affiliated tissues include testes, brain and bone.

Wikipedia:66 Intellectual disability (ID) or learning disability (UK) or general learning disability (UK and Ireland)... more...

Description from OMIM:48 300143, 300436, 300210, 300844, 300387 300558, 300849, 613192, 614202, 300486, 309583 more

Aliases & Classifications for Intellectual Disability

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Sources:
9Disease Ontology, 21GeneTests, 11DISEASES, 10diseasecard, 23GTR, 48OMIM, 41NCIt, 59SNOMED-CT, 28ICD9CM, 63UMLS, 36MeSH
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Classifications:



Aliases & Descriptions:

intellectual disability 9 21 11
mental retardation, autosomal recessive 15 9 10 23 48


Related Diseases for Intellectual Disability

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Intellectual Disability family:

Kansl1-Related Intellectual Disability Syndrome Cask-Related Intellectual Disability

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

(show top 50)    (show all 603)
idRelated DiseaseScoreTop Affiliating Genes
1short stature30.8ATRX
2microcephaly30.7CASK, ATRX
3alpha-thalassemia x-linked intellectual disability syndrome10.6
4autism spectrum disorder10.5
5down syndrome10.5
6blepharophimosis intellectual disability syndromes10.5
7fragile x syndrome10.4
8male pseudohermaphroditism intellectual disability syndrome, verloes type10.4
9obesity10.4
10mental retardation10.4
11dementia10.4
12spasticity10.4
13neuronitis10.3
14developmental disabilities10.3
15trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina10.3
16x-linked intellectual disability-retinitis pigmentosa syndrome10.3
17cask-related intellectual disability10.3
18blepharophimosis-ptosis-intellectual disability syndrome10.3
19mental retardation and microcephaly with pontine and cerebellar hypoplasia10.3
20alopecia-intellectual disability syndrome10.3
21kbg syndrome10.2
22cervicitis10.2
23schizophrenia10.2
24kansl1-related intellectual disability syndrome10.2
25snyder-robinson syndrome10.2
26fragile xe syndrome10.2
27potocki-shaffer syndrome10.2
28spastic tetraplegia - retinitis pigmentosa - intellectual disability10.2
29blepharophimosis-intellectual disability syndrome, verloes type10.2
30charcot-marie-tooth disease - deafness - intellectual disability10.2
31syndromic x-linked intellectual disability 710.2
32x-linked intellectual disability, shashi type10.2
33alpha-thalassemia - intellectual disability syndrome linked to chromosome 1610.2
34attention deficit hyperactivity disorder10.2
35angelman syndrome10.2
36williams-beuren syndrome10.2
37rett syndrome10.2
38renpenning syndrome10.2
39phenylketonuria10.2
40congenital hypothyroidism10.2
41cerebritis10.2
42west syndrome10.2
43allan-herndon-dudley syndrome10.2
44bipolar disorder10.2
45breast cancer10.2
46cerebral palsy10.2
47learning disability10.2
48paraplegia10.2
49sleep disorder10.2
50williams syndrome10.2

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



Diseases related to intellectual disability

Symptoms for Intellectual Disability

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

614202

Clinical features from OMIM:

300143, 300436, 300210, 300844, 300387, 300558, 300849, 613192, 614202, 300486 309583 more

Drugs & Therapeutics for Intellectual Disability

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Intellectual Disability

Drug clinical trials:

Search ClinicalTrials for Intellectual Disability

Search NIH Clinical Center for Intellectual Disability

Search CenterWatch for Intellectual Disability

Genetic Tests for Intellectual Disability

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Sources:
21GeneTests, 23GTR
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Genetic tests related to Intellectual Disability:

id Genetic test Affiliating Genes
1 Intellectual Disability Multi-Gene Panels21
2 Mental Retardation, Autosomal Recessive 1523

Anatomical Context for Intellectual Disability

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Sources:
34MalaCards
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MalaCards organs/tissues related to Intellectual Disability:

34
Testes, Brain, Bone, Breast, Heart, Skin, Eye, Thyroid, Kidney, Pituitary

Animal Models for Intellectual Disability or affiliated genes

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Publications for Intellectual Disability

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Sources:
53PubMed
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Articles related to Intellectual Disability:

(show top 50)    (show all 675)
idTitleAuthorsYear
1
Trends and synergies in intellectual disability research. (24313702)
2014
2
Array CGH analysis of a cohort of Russian patients with intellectual disability. (24291026)
2014
3
Correction: Ubiquitin Ligase HUWE1 Regulates Axon Branching through the Wnt/I^-Catenin Pathway in a Drosophila Model for Intellectual Disability. (24404120)
2014
4
Diagnostic Exome Sequencing Identifies Two Novel IQSEC2 Mutations Associated with X-Linked Intellectual Disability with Seizures: Implications for Genetic Counseling and Clinical Diagnosis. (24306141)
2013
5
Ubiquitin Ligase HUWE1 Regulates Axon Branching through the Wnt/I^-Catenin Pathway in a Drosophila Model for Intellectual Disability. (24303071)
2013
6
Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3. (23975261)
2013
7
Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy. (23685073)
2013
8
Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth. (23615299)
2013
9
Copy number variants are frequent in genetic generalized epilepsy with intellectual disability. (24068782)
2013
10
Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription. (23640545)
2013
11
The Sexuality of Adults with Intellectual Disability in Poland. (23704799)
2013
12
Urban adolescents with intellectual disability and challenging behaviour: costs and characteristics during transition to adult services. (23398559)
2013
13
Participant experience of invasive research in adults with intellectual disability. (23355224)
2013
14
An Amino Acid Deletion inSZT2 in a Family with Non-Syndromic Intellectual Disability. (24324832)
2013
15
Mutations of the synapse genes and intellectual disability syndromes. (23872408)
2013
16
Participation and service access rights for people with intellectual disability: a role for law? (23164093)
2013
17
Parent described pain responses in nonverbal children with intellectual disability. (23245455)
2013
18
Reconstructing the fall: individual, behavioural and contextual factors associated with falls in individuals with intellectual disability. (23373456)
2013
19
Perceptual factors influence visual search for meaningful symbols in individuals with intellectual disabilities and Down syndrome or autism spectrum disorders. (24245729)
2013
20
Electroconvulsive therapy in adolescents with intellectual disability and severe self-injurious behavior and aggression: a retrospective study. (22923049)
2013
21
Australians from a non-English speaking background with intellectual disability: the importance of research. (23244697)
2013
22
The age related prevalence of aggression and self-injury in persons with an intellectual disability: a review. (23220053)
2013
23
Classification of intellectual disability using the Wechsler Intelligence Scale for Children: Full Scale IQ or General Abilities Index? (23859669)
2013
24
6p21.3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability, seizures, and severe speech impairment. (23687080)
2013
25
Attitudes of Pakistani community members and staff toward people with intellectual disability. (23301901)
2013
26
See me, feel me. Using physiology to validate behavioural observations of emotions of people with severe or profound intellectual disability. (23464864)
2013
27
Frailty and intellectual disability: a different operationalization? (23949825)
2013
28
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation. (23335808)
2013
29
From diminished men to conditionally masculine: sexuality and Australian men and adolescent boys with intellectual disability. (23656632)
2013
30
Telephone administration of the aberrant behavior checklist: a pilot study of feasibility in children with intellectual disability and autism. (24003069)
2013
31
Estimating the severity of intellectual disability in adults: a Mokken scaling analysis of the learning disability screening questionnaire. (23544397)
2013
32
Computerized training of non-verbal reasoning and working memory in children with intellectual disability. (23060775)
2012
33
Cardiovascular risk factors (diabetes, hypertension, hypercholesterolemia and metabolic syndrome) in older people with intellectual disability: results of the HA-ID study. (22699246)
2012
34
Fact or faith?: on the evidence for psychotherapy for adults with intellectual disability and mental health needs. (22854415)
2012
35
A comparison of antiepileptic drug therapy in patients with severe intellectual disability and patients with normal intellect. (23032132)
2012
36
Health of ageing people with intellectual disability and the role of the nurse in Ireland. (23027837)
2012
37
A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features. (22842074)
2012
38
Behavioral features of Williams Beuren syndrome compared to Fragile X syndrome and subjects with intellectual disability without defined etiology. (21211940)
2011
39
A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics. (21630357)
2011
40
A de novo supernumerary genomic discontinuous ring chromosome 21 in a child with mild intellectual disability. (21574245)
2011
41
Plasma amyloid-I^ as a function of age, level of intellectual disability, and presence of dementia in Down syndrome. (21116050)
2011
42
Role of functional dopaminergic gene polymorphisms in the etiology of idiopathic intellectual disability. (21609749)
2011
43
Mental retardation or intellectual disability? Time for a change. (22052863)
2011
44
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. (21981781)
2011
45
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. (20797691)
2010
46
Attention-deficit hyperactivity disorder and intellectual disability: a study of association with brain-derived neurotrophic factor gene polymorphisms. (20943059)
2010
47
Swallowing foreign bodies as an example of impulse control disorder in a patient with intellectual disabilities: a case report. (20941350)
2010
48
Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability. (19012874)
2008
49
Behavioural flexibility in individuals with Angelman syndrome, Down syndrome, non-specific intellectual disability and Autism spectrum disorder. (18384537)
2008
50
Identifying bipolar disorders in individuals with intellectual disability. (12558693)
2003

Variations for Intellectual Disability

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Intellectual Disability:

65
id Symbol AA change Variation ID SNP ID
1MAN1B1p.Arg334CysVAR_066592
2MAN1B1p.Glu397LysVAR_066593

Clinvar genetic disease variations for Intellectual Disability:

1
id Gene Name Type Significance SNP ID Assembly Location
1MAN1B1NM_016219.4(MAN1B1): c.1189G> A (p.Glu397Lys)single nucleotide variantPathogenicrs387906885GRCh37Chr 9, 139996059: 139996059
2MAN1B1NM_016219.4(MAN1B1): c.1000C> T (p.Arg334Cys)single nucleotide variantPathogenicrs387906886GRCh37Chr 9, 139995540: 139995540

Expression for genes affiliated with Intellectual Disability

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Intellectual Disability

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Pathways for genes affiliated with Intellectual Disability

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Compounds for genes affiliated with Intellectual Disability

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GO Terms for genes affiliated with Intellectual Disability

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17Gene Ontology
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Biological processes related to Intellectual Disability according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ER-associated ubiquitin-dependent protein catabolic processGO:03043310.0ERLIN2, MAN1B1

Products for genes affiliated with Intellectual Disability

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Sources for Intellectual Disability

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet