MR
MCID: MNT147
MIFTS: 51

Mental Retardation (MR) malady

Neuronal category

Summaries for Mental Retardation

Sources:
64Wikipedia, 33MalaCards
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Wikipedia:64 Intellectual disability (ID) or general learning disability is a generalized disorder appearing before... more...

MalaCards: Mental Retardation, also known as MR, is related to microcephaly and autistic disorder. An important gene associated with Mental Retardation is AFF2 (AF4/FMR2 family, member 2), and among its related pathways is Rho GTPase cycle. The drugs buspirone and buspirone hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include skin, ovary and liver, and related mouse phenotypes are behavior/neurological and nervous system.

Aliases & Classifications for Mental Retardation

Sources:
20GeneTests, 45Novoseek, 39NCBI Bookshelf, 61UMLS
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Classifications:

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


Aliases & Descriptions:

mental retardation 20 45 61
mr 39


Related Diseases for Mental Retardation

Sources:
17GeneCards, 18GeneDecks
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Diseases in the mental retardation with language impairment and autistic features family:

mental retardation mental retardation, severe, with spasticity and tapetoretinal degeneration
mental retardation, with or without nystagmus

Diseases related to Mental Retardation via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 2031)
idRelated DiseaseScoreTop Affiliating Genes
1microcephaly31.2ATRX, MECP2, PQBP1
2autistic disorder30.5IL1RAPL1, MECP2, ARX
3cerebellar hypoplasia30.5OPHN1
4rett syndrome30.5MECP2
5fragile x syndrome30.4MECP2, AFF2, FXR2
6ohtahara syndrome29.8PCDH19
7mental retardation epilepsy10.8
8n syndrome10.8
9mental retardation, x-linked10.8
10micro syndrome10.8
11short stature10.8
12ataxia10.6
13short syndrome10.6
14alpha-thalassemia/mental retardation syndrome10.6
15cleft palate10.6
16alpha thalassemia10.6
17thalassemia10.6
18brachydactyly10.6
19hypotonia10.6
20wagr syndrome10.5
21char syndrome10.5
22coloboma10.5
23aniridia10.5
24syndactyly10.5
25blepharophimosis10.4
26megalocornea mental retardation syndrome10.4
27partington x-linked mental retardation syndrome10.4
28birk-barel syndrome10.4
29wilson-turner x-linked mental retardation syndrome10.4
30coffin-lowry syndrome10.4
31lubs x-linked mental retardation syndrome10.4
32alopecia contractures dwarfism mental retardation10.4
33hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome10.4
34dandy-walker malformation with mental retardation basal ganglia disease and seizures10.4
35epilepsy, female restricted, with mental retardation10.4
36prieto x-linked mental retardation syndrome10.4
37seizure disorder10.4
38corpus callosum agenesis10.4
39parkinsonism, early onset with mental retardation10.4
40deafness onychodystrophy osteodystrophy and mental retardation syndrome10.4
41x-linked mental retardation gustavson type10.4
42ppm-x syndrome10.4
43miles-carpenter x-linked mental retardation syndrome10.4
44wernicke encephalopathy10.4
45angelman syndrome10.3
46dwarfism10.3
47alpha-thalassemia x-linked intellectual disability syndrome10.3
48aminoaciduria10.3
49aniridia mental retardation syndrome10.3
50schimke x-linked mental retardation syndrome10.3

Graphical network of the top 20 diseases related to Mental Retardation:



Diseases related to mental retardation

Clinical Features for Mental Retardation

Drugs & Therapeutics for Mental Retardation

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Mental Retardation

Drug clinical trials:

Search ClinicalTrials for Mental Retardation

Search NIH Clinical Center for Mental Retardation

Search CenterWatch for Mental Retardation

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Mental Retardation

Sources:
20GeneTests
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Genetic tests related to Mental Retardation:

id Genetic test Affiliating Genes
1 Mental Retardation20

Anatomical Context for Mental Retardation

Sources:
33MalaCards
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MalaCards organs/tissues related to Mental Retardation:

33
Skin, Ovary, Liver, Spinal cord, Brain, Kidney, Lung, Spleen, Whole blood, Cortex, Cerebellum, Heart, Skeletal muscle, Small intestine, Colon, Thyroid, Breast, Testis, T cells, B cells, Fetal brain, Prefrontal cortex, Cingulate cortex, Parietal lobe, Temporal lobe, Globus pallidus, Olfactory bulb, Amygdala, Fetal liver, Fetal lung, Fetal thyroid, Adrenal cortex, Testis germ

Animal Models for Mental Retardation or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Mental Retardation:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538612.4SMS, CC2D1A, OPHN1, ARX, ARHGEF6, MECP2
2MP:000363112.2MECP2, ARHGEF6, ARX, OPHN1, CC2D1A, ATRX
3MP:000538911.7MECP2, ATRX, CLN8, FXR2, ACSL4, SMS

Publications for Mental Retardation

Sources:
51PubMed
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Articles related to Mental Retardation:

(show top 50)    (show all 1693)
idTitleAuthorsYear
1
Genetic and Pharmacological Recovery of Current in Mutated TASK3 Potassium Channels Underlying Birk Barel Mental Retardation Syndrome. (24342771)
2013
2
Change in terminology: "mental retardation" to "intellectual disability." Final rule. (23923138)
2013
3
"Back to the future": toward Luria's holistic cultural science of human brain and mind in a historical study of mental retardation. (24027508)
2013
4
Alpha thalassemia/mental retardation syndrome X-linked gene product ATRX is required for proper replication restart and cellular resistance to replication stress. (23329831)
2013
5
The Fragile X mental retardation protein regulates matrix metalloproteinase 9 mRNA at synapses. (24227732)
2013
6
The impact of caring for children with mental retardation on families as perceived by mothers in Karachi, Pakistan. (24397086)
2013
7
372A kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment. (22333924)
2012
8
A study of the risk of mental retardation among children of pregnant women who have attempted suicide by means of a drug overdose. (21502792)
2012
9
Molecular investigation of mental retardation locus gene PRSS12 by linkage analysis. (22090715)
2011
10
Severe mental retardation and recessive congenital methemoglobinemia in three Indian patients: compound heterozygous for NADH-cytochrome b5 reductase gene mutations. (21328435)
2011
11
Heads-up: new roles for the fragile X mental retardation protein in neural stem and progenitor cells. (21404421)
2011
12
De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features. (21626670)
2011
13
The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings. (21567902)
2011
14
Altered mRNA transport, docking, and protein translation in neurons lacking fragile X mental retardation protein. (20713728)
2010
15
Mental retardation, premature balding, small genitalia, small acra and small patellae in brothers: confirmation of an entity. (20624501)
2010
16
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism. (19238151)
2010
17
Turning the educability narrative: Samuel A. Kirk at the intersection of learning disability and "mental retardation". (20597729)
2010
18
Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C. (20333642)
2010
19
Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene. (20052367)
2010
20
A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms. (19752158)
2010
21
Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: case report and overview. (19625955)
2009
22
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion. (19073947)
2009
23
Crusted Piloleiomyoma with mental retardation: a rare association. (20049278)
2009
24
Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation. (18688080)
2008
25
Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation. (18348270)
2008
26
Effects of stretching and heat treatment on hamstring extensibility in children with severe mental retardation and hypertonia. (18728130)
2008
27
Different-sized duplications of Xq28, including MECP2, in three males with mental retardation, absent or delayed speech, and recurrent infections. (18165974)
2008
28
Infant C677T MTHFR polymorphism and severe mental retardation. (17149733)
2007
29
Association of adenosine deaminase polymorphism with mild mental retardation. (16970880)
2006
30
Lack of association of the thyroid transcription factor 1 gene with mental retardation in the iodine-deficient areas of China. (16314749)
2005
31
Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: description of a second patient and exclusion of HOXD13. (15887301)
2005
32
A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation. (15173243)
2004
33
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. (15060094)
2004
34
Prognostic factors for mental retardation in patients with tuberous sclerosis complex. (15315295)
2004
35
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation. (14564667)
2003
36
Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. (12966029)
2003
37
Angelman syndrome methylation screening of 15q11-q13 in institutionalized individuals with severe mental retardation. (12215253)
2002
38
Evidence that a dodecamer duplication in the gene HOPA in Xq13 is not associated with mental retardation. (10982179)
2000
39
Asperger's syndrome, X-linked mental retardation (MRX23), and chronic vocal tic disorder. (11063087)
2000
40
Mental retardation and seizure disorder in Schimke immunoosseous dysplasia. (10710226)
2000
41
X-linked nonspecific mental retardation (MRX16) mapping to distal Xq28: linkage study and neuropsychological data in a large family. (10232754)
1999
42
MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to xp21.1-p22.13. (9781023)
1998
43
Localization of a gene for X-linked nonspecific mental retardation (MRX24) in Xp22.2-p22.3. (7726242)
1995
44
X-linked mental retardation: variations in the fragile X mutations and genetic counseling]. (8219287)
1993
45
X-linked syndrome: mental retardation, hip luxation, and G6PD variant [Gd(+) Butantan]. (2063914)
1991
46
X-linked mental retardation with dystonic movements of the hands. (3177452)
1988
47
X-linked ichthyosis, bilateral cryptorchidism, hypogenitalism and mental retardation in two siblings. (4250)
1976
48
Localized supravalvular aortic stenosis combined with mental retardation and peculiar facial appearance. (5038225)
1972
49
Hypotonia, mental retardation, obesity, and cryptorchidism associated with dwarfism and diabetes in children. (4381583)
1967
50
FAMILIAL HYPERPROLINEMIA. REPORT OF A SECOND CASE, ASSOCIATED WITH CONGENITAL RENAL MALFORMATIONS, HEREDITARY HEMATURIA AND MILD MENTAL RETARDATION, WITH DEMONSTRATION OF AN ENZYME DEFECT. (14290545)
1965

Genetic Variations for Mental Retardation

Expression for genes affiliated with Mental Retardation

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

Search GEO for disease gene expression data for Mental Retardation.

Pathways for genes affiliated with Mental Retardation

Sources:
54Reactome
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Pathways related to Mental Retardation according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
11.0GDI1, ARHGEF6, OPHN1

Compounds for genes affiliated with Mental Retardation

GO Terms for genes affiliated with Mental Retardation

Sources:
16Gene Ontology
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Biological processes related to Mental Retardation according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dendrite developmentGO:01635810.8PAK3, MECP2
2lipid biosynthetic processGO:00861010.7ACSL4, CLN8
3regulation of small GTPase mediated signal transductionGO:05105610.7GDI1, ARHGEF6, OPHN1

Products for genes affiliated with Mental Retardation

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Sources for Mental Retardation

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet