MR
MCID: MNT147
MIFTS: 51

Mental Retardation (MR) malady

Genetic diseases (common), Neuronal diseases, Mental diseases categories
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Summaries for Mental Retardation

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65Wikipedia, 33MalaCards
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Wikipedia:65 Intellectual disability (ID) or learning disability (UK) or general learning disability (UK and Ireland)... more...

MalaCards: Mental Retardation, also known as MR, is related to microcephaly and alpha-thalassemia/mental retardation syndrome. An important gene associated with Mental Retardation is AFF2 (AF4/FMR2 family, member 2), and among its related pathways are NgR-p75(NTR)-Mediated Signaling and Rho GTPase cycle. The drugs buspirone and buspirone hydrochloride and the compound Guanosine triphosphate have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and testes, and related mouse phenotypes are behavior/neurological and nervous system.

Aliases & Classifications for Mental Retardation

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20GeneTests, 45Novoseek, 62UMLS, 39NCBI Bookshelf
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Neuronal diseases, Mental diseases


Aliases & Descriptions:

mental retardation 20 45 62
mr 39


Related Diseases for Mental Retardation

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17GeneCards, 18GeneDecks
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Diseases related to Mental Retardation via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 2208)
idRelated DiseaseScoreTop Affiliating Genes
1microcephaly31.4ATRX, MECP2, PQBP1
2alpha-thalassemia/mental retardation syndrome31.0ATRX
3fragile x syndrome31.0FXR2, AFF2, MECP2
4cerebellar hypoplasia30.6OPHN1
5autistic disorder30.6MECP2, ARX, IL1RAPL1
6intellectual disability30.3GDI1, ARX, FXR2, OPHN1, PQBP1, ZNF81
7epilepsy syndrome30.1OPHN1, MECP2, ATRX, ARX
8myotonic dystrophy30.0AFF2
9short stature10.8
10ataxia10.7
11neuronitis10.6
12muscular dystrophy10.6
13thalassemia10.6
14alpha thalassemia10.6
15brachydactyly10.6
16hypotonia10.6
17spasticity10.6
18non-specific x-linked mental retardation10.6
19obesity10.6
20cataract10.6
21wagr syndrome10.5
22cleft palate10.5
23cerebritis10.5
24coloboma10.5
25aniridia10.5
26hypogonadism10.5
27syndactyly10.5
28congenital muscular dystrophy10.5
29retinitis10.5
30cleft lip10.5
31blepharophimosis10.5
32dandy-walker malformation with mental retardation basal ganglia disease and seizures10.5
33partington x-linked mental retardation syndrome10.5
34hypertrichosis10.5
35mental retardation epilepsy10.5
36ppm-x syndrome10.5
37pervasive developmental disorder10.4
38prieto x-linked mental retardation syndrome10.4
39wilson-turner x-linked mental retardation syndrome10.4
40coffin-lowry syndrome10.4
41cerebellar ataxia10.4
42hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome10.4
43lubs x-linked mental retardation syndrome10.4
44parkinsonism, early onset with mental retardation10.4
45birk-barel syndrome10.4
46alopecia contractures dwarfism mental retardation10.4
47mental retardation, with or without nystagmus10.4
48gingivitis10.4
49megalocornea mental retardation syndrome10.4
50miles-carpenter x-linked mental retardation syndrome10.4

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



Diseases related to mental retardation

Symptoms for Mental Retardation

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Drugs & Therapeutics for Mental Retardation

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Mental Retardation

Search NIH Clinical Center for Mental Retardation

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Mental Retardation

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20GeneTests
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Genetic tests related to Mental Retardation:

id Genetic test Affiliating Genes
1 Mental Retardation20

Anatomical Context for Mental Retardation

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33MalaCards
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MalaCards organs/tissues related to Mental Retardation:

33
Brain, Heart, Testes, Bone, Skin, Eye, Thyroid, Cortex, Kidney, Temporal lobe, Colon, Globus pallidus, Cingulate cortex, Prefrontal cortex, Spleen, Testis, Ovary, Breast, Cerebellum, Lung, Liver, Amygdala, Olfactory bulb

Animal Models for Mental Retardation or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Mental Retardation:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.8GDI1, ARX, FXR2, OPHN1, CC2D1A, MECP2
2MP:00036318.3GDI1, FXR2, OPHN1, IL1RAPL1, CC2D1A, MECP2

Publications for Mental Retardation

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52PubMed
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Articles related to Mental Retardation:

(show top 50)    (show all 1758)
idTitleAuthorsYear
1
Heterozygous somatic activating AKT1 mutation in a case of Proteus syndrome with mental retardation. (24387135)
2014
2
Eosinophilic meningitis caused by Angiostrongylus cantonensis in an adolescent with mental retardation and pica disorder. (23445744)
2013
3
Sporadic juvenile amyotrophic lateral sclerosis caused by mutant FUS/TLS: possible association of mental retardation with this mutation. (22057404)
2012
4
Homozygous deletion of an 80 kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy. (22647716)
2012
5
Complex chromosome rearrangement 46,XY, der(9)t(Y;9)(q12;p23) in a girl with sex reversal and mental retardation. (20974486)
2011
6
Homozygosity mapping in outbred families with mental retardation. (21248743)
2011
7
X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome? (21744492)
2011
8
Altered mRNA transport, docking, and protein translation in neurons lacking fragile X mental retardation protein. (20713728)
2010
9
Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax. (19291773)
2009
10
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. (19736351)
2009
11
A quantitative assessment of gene expression (QAGE) reveals differential overexpression of DOPEY2, a candidate gene for mental retardation, in Down syndrome brain regions. (19460634)
2009
12
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. (19557857)
2009
13
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. (18278044)
2008
14
Anassociation study between OPHN1 gene rs492933 polymorphism and mental retardation in children of the Qinba Mountain region.]. (18930891)
2008
15
Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation. (17603797)
2007
16
A microduplication of CBP in a patient with mental retardation and a congenital heart defect. (17702016)
2007
17
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. (17478476)
2007
18
Dynamic translational and proteasomal regulation of fragile X mental retardation protein controls mGluR-dependent long-term depression. (16908410)
2006
19
Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. (16896345)
2006
20
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. (16611748)
2006
21
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. (16249884)
2006
22
Alpha thalassaemia-mental retardation, X linked. (16722615)
2006
23
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. (16541399)
2006
24
Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. (17100996)
2006
25
Mental retardation in a boy with anterior cervical hypertrichosis. (15800907)
2005
26
The roles of Sp1, Sp3, USF1/USF2 and NRF-1 in the regulation and three-dimensional structure of the Fragile X mental retardation gene promoter. (15479157)
2005
27
Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation. (15915161)
2005
28
Rho GTPases, dendritic structure, and mental retardation. (15884002)
2005
29
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. (15627943)
2004
30
A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation. (15173243)
2004
31
Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2. (15300451)
2004
32
The N-terminus of the fragile X mental retardation protein contains a novel domain involved in dimerization and RNA binding. (12950170)
2003
33
Transport of fragile X mental retardation protein via granules in neurites of PC12 cells. (12417734)
2002
34
Activity-dependent regulation of genes implicated in X-linked non-specific mental retardation. (12207950)
2002
35
Penis agenesis associated with mental retardation: a case report. (12549651)
2002
36
Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation. (11357950)
2001
37
Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype. (10797441)
2000
38
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. (11017088)
2000
39
Oligomerization properties of fragile-X mental-retardation protein (FMRP) and the fragile-X-related proteins FXR1P and FXR2P. (10527928)
1999
40
Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome. (9832033)
1998
41
MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to xp21.1-p22.13. (9781023)
1998
42
Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation. (9727739)
1998
43
Two cases of essential myoclonus, epilepsy, mental retardation and anxiety disorders. (9339874)
1997
44
Sertraline response in adults with mental retardation and autistic disorder. (8778118)
1996
45
Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation. (7581396)
1995
46
Blepharophimosis, ptosis and mental retardation: further delineation of Ohdo syndrome. (7519949)
1994
47
Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy. (1877622)
1991
48
Pigmentary retinopathy, hearing loss, mental retardation, and dysmorphism in sibs: a new syndrome? (7139098)
1982
49
The Coffin-Lowry syndrome: a simply inherited trait comprising mental retardation, faciodigital anomalies and skeletal involvement. (1201338)
1975
50
The Rud syndrome: ichthyosis, hypogonadism, mental retardation. (5173271)
1971

Variations for Mental Retardation

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Expression for genes affiliated with Mental Retardation

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mental Retardation

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Pathways for genes affiliated with Mental Retardation

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50PathCards, 53QIAGEN, 55Reactome, 5Cell Signaling Technology
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Pathways related to Mental Retardation according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1ARHGEF6, PAK3
2
Show member pathways
9.9ARHGEF6, OPHN1, GDI1
39.8FXR2, OPHN1, MECP2

Compounds for genes affiliated with Mental Retardation

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24HMDB
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Compounds related to Mental Retardation according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Guanosine triphosphate249.8ARHGEF6, OPHN1, PAK3, GDI1

GO Terms for genes affiliated with Mental Retardation

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16Gene Ontology
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Cellular components related to Mental Retardation according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:0057378.7FXR2, ATRX, PAK3, FTSJ1, CC2D1A, ACSL4

Biological processes related to Mental Retardation according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dendrite developmentGO:01635810.1MECP2, PAK3
2regulation of RNA splicingGO:04348410.1PQBP1, AFF2
3regulation of small GTPase mediated signal transductionGO:0510569.9GDI1, OPHN1, ARHGEF6
4synapse organizationGO:0508089.8RAB39B, PAK3
5small GTPase mediated signal transductionGO:0072649.7ARHGEF6, OPHN1, RAB39B, GDI1

Products for genes affiliated with Mental Retardation

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Sources for Mental Retardation

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet