MCID: INT063
MIFTS: 51

Intellectual Disability malady

Neuronal diseases category

Summaries for Intellectual Disability

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Sources:
8Disease Ontology, 63Wikipedia, 46OMIM, 32MalaCards
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Disease Ontology:8 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 mental retardation and alpha-thalassemia x-linked intellectual disability syndrome. An important gene associated with Intellectual Disability is MAN1B1 (mannosidase, alpha, class 1B, member 1). Affiliated tissues include testes, brain and breast.

Wikipedia:63 Intellectual disability (ID) or general learning disability is a generalized disorder appearing before... more...

Description from OMIM:46 309583, 614202, 300436, 300387, 300849 300486, 300210, 300844, 300143, 300558, 613192 more

Aliases & Classifications for Intellectual Disability

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Sources:
8Disease Ontology, 20GeneTests, 10DISEASES, 9diseasecard, 22GTR, 46OMIM, 27ICD9CM, 56SNOMED-CT, 60UMLS, 34MeSH, 39NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


Aliases & Descriptions:

intellectual disability 8 20 10
mental retardation, autosomal recessive 15 8 9 22 46


Related Diseases for Intellectual Disability

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Sources:
17GeneCards, 18GeneDecks
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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 370)
idRelated DiseaseScoreTop Affiliating Genes
1mental retardation30.4FRAXE, ATRX
2alpha-thalassemia x-linked intellectual disability syndrome10.6
3developmental disabilities10.5
4down syndrome10.5
5autism spectrum disorder10.5
6microcephaly10.4
7fragile x syndrome10.4
8obesity10.4
9blepharophimosis intellectual disability syndromes10.4
10male pseudohermaphroditism intellectual disability syndrome, verloes type10.3
11dementia10.3
12williams syndrome10.3
13cask-related intellectual disability10.3
14neuronitis10.3
15learning disability10.3
16trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina10.3
17x-linked intellectual disability-retinitis pigmentosa syndrome10.3
18bipolar disorder10.2
19attention deficit hyperactivity disorder10.2
20angelman syndrome10.2
21autistic disorder10.2
22phenylketonuria10.2
23cervicitis10.2
24epilepsy syndrome10.2
25schizophrenia10.2
26kansl1-related intellectual disability syndrome10.2
27snyder-robinson syndrome10.2
28fragile xe syndrome10.2
29rett syndrome10.1
30williams-beuren syndrome10.1
31kbg syndrome10.1
32congenital hypothyroidism10.1
33cerebritis10.1
34wolf-hirschhorn syndrome10.1
35lennox-gastaut syndrome10.1
36west syndrome10.1
37succinic semialdehyde dehydrogenase deficiency10.1
38cleft palate10.1
39breast cancer10.1
40cerebral palsy10.1
41cervical cancer10.1
42congenital heart defect10.1
43muscular dystrophy10.1
44paraplegia10.1
45sleep disorder10.1
46kabuki syndrome10.1
47pitt-hopkins syndrome10.1
48pallister-killian mosaic syndrome10.1
49ring chromosome 1410.1
50ppm-x syndrome10.1

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



Diseases related to intellectual disability

Clinical Features for Intellectual Disability

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Sources:
46OMIM
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Clinical features from OMIM:

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

Clinical synopsis from OMIM:

614202

Drugs & Therapeutics for Intellectual Disability

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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:
20GeneTests, 22GTR
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Genetic tests related to Intellectual Disability:

id Genetic test Affiliating Genes
1 Intellectual Disability Multi-Gene Panels20
2 Mental Retardation, Autosomal Recessive 1522

Anatomical Context for Intellectual Disability

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Sources:
32MalaCards
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MalaCards organs/tissues related to Intellectual Disability:

32
Testes, Brain, Breast, Bone, 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:
50PubMed
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Articles related to Intellectual Disability:

(show top 50)    (show all 797)
idTitleAuthorsYear
1
Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection. (24307393)
2014
2
Initial validation of the Brief Assessment of Service Satisfaction in Persons with an Intellectual Disability (BASSPID). (24169375)
2014
3
Conceptualizing inclusive research with people with intellectual disability. (24390972)
2014
4
Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy. (23685073)
2013
5
Participation and service access rights for people with intellectual disability: a role for law? (23164093)
2013
6
Adaptation and psychometric properties of the self-efficacy/social support for activity for persons with intellectual disability scale (SE/SS-AID) in a Spanish sample. (23593928)
2013
7
What makes offenders with an intellectual disability ready to engage with psychological therapy? A qualitative study. (23474993)
2013
8
Sox2 transcriptionally regulates PQBP1, an intellectual disability-microcephaly causative gene, in neural stem progenitor cells. (23874697)
2013
9
Stigma and intellectual disability: potential application of mental illness research. (23713731)
2013
10
Prevalence of depression and anxiety in older users of formal Dutch intellectual disability services. (22884239)
2013
11
Pathways into the criminal justice system for individuals with intellectual disability. (23925963)
2013
12
Metabolic profiles in adults with autism spectrum disorder and intellectual disabilities. (23849396)
2013
13
Congenital disorders of glycosylation and intellectual disability. (23798010)
2013
14
Intellectual disability in Indian children: experience with a stratified approach for etiological diagnosis. (23798638)
2013
15
Do individuals with intellectual disability select appropriate objects as landmarks when learning a new route? (23228196)
2013
16
Public attitudes towards intellectual disability: a multidimensional perspective. (23279318)
2013
17
The formal support experiences of family carers of people with an intellectual disability who also display challenging behaviour and/or mental health issues: what do carers say? (23325117)
2013
18
The intellectual disability of trisomy 21: differences in gene expression in a case series of patients with lower and higher IQ. (23422941)
2013
19
Responsivity to criminogenic need in forensic intellectual disability services. (22973966)
2013
20
The experiences of mothers of young adults with an intellectual disability transitioning from secondary school to adult life. (23672660)
2013
21
Prevalence and characteristics of children with mild intellectual disability in a French county. (23750884)
2013
22
Important aspects of participation and participation restrictions in people with a mild intellectual disability. (24160858)
2013
23
The impact of including children with intellectual disability in general education classrooms on the academic achievement of their low-, average-, and high-achieving peers. (23356213)
2013
24
Descriptive analysis of a staff injury-reduction intervention in a human services setting for children and youth with intellectual and developmental disabilities. (23682008)
2013
25
Neuron-specific chromatin remodeling: A missing link in epigenetic mechanisms underlying synaptic plasticity, memory, and intellectual disability disorders. (24140580)
2013
26
Do we need both cognitive and behavioural components in interventions for depressed mood in people with mild intellectual disability? (24372867)
2013
27
Comparison of two types of Actiwatch with polysomnography in older adults with intellectual disability: a pilot study. (23984885)
2013
28
Our experience with the aetiological diagnosis of global developmental delay and intellectual disability: 2006-2010. (24332781)
2013
29
Access to Medicare-funded annual comprehensive health assessments for rural people with intellectual disability. (23952526)
2013
30
A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features. (22842074)
2012
31
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability. (22541562)
2012
32
Decision-making after prenatal diagnosis of a syndrome predisposing to intellectual disability: what prospective parents need to know and the importance of non-medical information. (23062079)
2012
33
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. (23020937)
2012
34
Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: alternative definition and further delineation of MOMO syndrome. (22821547)
2012
35
End-of-life care and dying: issues raised by staff supporting older people with intellectual disability in community living services. (23055290)
2012
36
Examining rater effects of the TGMD-2 on children with intellectual disability. (23027147)
2012
37
Active aging for individuals with intellectual disability: meaningful community participation through employment, retirement, service, and volunteerism. (23167488)
2012
38
Predicting supportive behavior of parents and siblings to a family member with intellectual disability living in institutional care. (22900737)
2012
39
Supporting the generalist genes hypothesis for intellectual ability/disability: the case of SNAP25. (22762387)
2012
40
Homozygous deletion of Tenascin-R in a patient with intellectual disability. (22730557)
2012
41
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal- recessive intellectual disability. (21763484)
2011
42
Language disorder with mild intellectual disability in a child affected by a novel mutation of SLC6A8 gene. (21144783)
2011
43
Evidence-based practices in the field of intellectual and developmental disabilities: an international consensus approach. (21167602)
2011
44
Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability. (20972249)
2011
45
How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability? (21416592)
2011
46
Construct validity of the Nutrition and Activity Knowledge Scale in a French sample of adolescents with mild to moderate intellectual disability. (19836924)
2010
47
PPP2R2C, a gene disrupted in autosomal dominant intellectual disability. (20601260)
2010
48
An instructive case of an 8-year-old boy with intellectual disability. (19073314)
2008
49
Preference for water-related items in Angelman syndrome, Down syndrome and non-specific intellectual disability. (18300168)
2008
50
Synergistic effect of valproate coadministration and hypoalbuminemia on the serum-free phenytoin concentration in patients with severe motor and intellectual disabilities. (12151911)
2002

Genetic Variations for Intellectual Disability

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Intellectual Disability:

62
id Symbol AA change Variation ID SNP ID
1MAN1B1p.Arg334CysVAR_066592
2MAN1B1p.Glu397LysVAR_066593

Expression for genes affiliated with Intellectual Disability

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Intellectual Disability

Search GEO for disease gene expression data for Intellectual Disability.

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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Products for genes affiliated with Intellectual Disability

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Intellectual Disability

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet