MCID: MNT147
MIFTS: 46

Mental Retardation malady

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

Aliases & Classifications for Mental Retardation

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Sources:
20GeneTests, 43Novoseek, 3CDC, 60UMLS, 37NCBI Bookshelf, 25ICD10
See all sources

Mental Retardation, Aliases & Descriptions:

Name: Mental Retardation 20 43 3 60
 
Mr 37


Classifications:

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


External Ids:

ICD1025 F70-F79

Summaries for Mental Retardation

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MalaCards based summary: 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 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.

Related Diseases for Mental Retardation

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Diseases in the Mental Retardation family:

Mental Retardation, Autosomal Dominant 14 Mental Retardation, Autosomal Dominant 18
Mental Retardation, Autosomal Recessive 47 Mental Retardation, Autosomal Dominant 22
Mental Retardation, Autosomal Recessive 42 Mental Retardation, Autosomal Recessive 2
Mental Retardation, Autosomal Dominant 23 Mental Retardation, Autosomal Dominant 19
Mental Retardation, Autosomal Recessive 31 Mental Retardation, Autosomal Recessive 29
Mental Retardation, Autosomal Recessive 5 Mental Retardation, Autosomal Dominant 31
Mental Retardation, Autosomal Recessive 46 Mental Retardation, Autosomal Recessive 24
Mental Retardation, Autosomal Recessive 30 Mental Retardation, Autosomal Recessive 18
Mental Retardation, Autosomal Dominant 12 Mental Retardation, Autosomal Recessive 28
Mental Retardation, Autosomal Dominant 26 Mental Retardation, Autosomal Recessive 39
Mental Retardation, Autosomal Recessive 40 Mental Retardation, Autosomal Recessive 16
Mental Retardation, Autosomal Dominant 8 Mental Retardation, Autosomal Recessive 15
Mental Retardation, Autosomal Dominant 30 Mental Retardation, Autosomal Dominant 24
Mental Retardation, Autosomal Recessive 23 Mental Retardation, Autosomal Dominant 17
Mental Retardation, Autosomal Dominant 6 Mental Retardation, Autosomal Recessive 25
Mental Retardation, Autosomal Recessive 34 Mental Retardation, Autosomal Recessive 43
Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Recessive 32
Mental Retardation, Autosomal Recessive 38 Mental Retardation, Autosomal Recessive 27
Mental Retardation, Autosomal Dominant 21 Mental Retardation, Autosomal Recessive 45
Mental Retardation, Autosomal Recessive 33 Mental Retardation, Autosomal Recessive 35
Mental Retardation, Autosomal Recessive 44 Mental Retardation, Autosomal Recessive 19
Mental Retardation, Autosomal Dominant 29 Mental Retardation, Autosomal Recessive 36
Mental Retardation, Autosomal Dominant 16 Mental Retardation, Autosomal Recessive 14
Mental Retardation, Autosomal Recessive 41 Mental Retardation, Autosomal Dominant 11
Mental Retardation, Autosomal Dominant 7 Mental Retardation, Autosomal Dominant 15
Mental Retardation, Autosomal Dominant 10 Mental Retardation, Autosomal Dominant, 27
Mental Retardation, Autosomal Recessive, 37 Mental Retardation, Autosomal Dominant, 28

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

(show top 50)    (show all 2112)
idRelated DiseaseScoreTop Affiliating Genes
1microcephaly31.8PQBP1, MECP2, ATRX
2alpha-thalassemia/mental retardation syndrome31.5ATRX
3fragile x syndrome31.5AFF2, MECP2, FXR2
4cerebellar hypoplasia31.1OPHN1
5autistic disorder31.0MECP2, IL1RAPL1, ARX
6myotonic dystrophy30.4AFF2
7epilepsy syndrome30.4ARX, OPHN1, MECP2, ATRX
8west syndrome30.1ARX, MECP2
9intellectual disability multi-gene panels28.7GDI1, OPHN1, PQBP1, ZNF81, IL1RAPL1, ACSL4
10ataxia10.7
11neuronitis10.7
12muscular dystrophy10.7
13thalassemia10.6
14hypotonia10.6
15partington syndrome10.6
16brachydactyly10.6
17spasticity10.6
18obesity10.6
19cataract10.6
20mental retardation, x-linked syndromic, lubs type10.5
21wagr syndrome10.5
22cerebritis10.5
23aniridia10.5
24coloboma10.5
25alopecia-mental retardation syndrome 110.5
26hypogonadism10.5
27ptosis10.5
28retinitis10.5
29prieto x-linked mental retardation syndrome10.5
30syndactyly10.5
31mental retardation epilepsy10.5
32mental retardation-hypotonic facies syndrome, x-linked10.5
33cleft lip10.5
34renpenning syndrome10.5
35wilson-turner syndrome10.5
36blepharophimosis10.5
37hypertrichosis10.5
38waisman syndrome10.5
39pervasive developmental disorder10.5
40alopecia contractures dwarfism mental retardation10.5
41megalocornea mental retardation syndrome10.5
42coffin-lowry syndrome10.4
43ichthyosis mental retardation dwarfism renal impairment10.4
44hyperphosphatasia with mental retardation syndrome 110.4
45birk-barel mental retardation dysmorphism syndrome10.4
46cerebellar ataxia10.4
47cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 110.4
48hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome10.4
49hypospadias mental retardation goldblatt type10.4
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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Drug clinical trials:

Search ClinicalTrials for Mental Retardation

Search NIH Clinical Center for Mental Retardation

Genetic Tests for Mental Retardation

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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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MalaCards organs/tissues related to Mental Retardation:

31
Brain, Heart, Testes, Bone, Skin, Eye, Cortex, Thyroid, Kidney, Temporal lobe, Spleen, Cerebellum, Colon, Liver, Lung, Breast, Ovary, Testis, Prefrontal cortex, Cingulate cortex, Globus pallidus, Amygdala, Olfactory bulb

Animal Models for Mental Retardation or affiliated genes

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MGI Mouse Phenotypes related to Mental Retardation:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053868.8ATRX, AFF2, PAK3, MECP2, CC2D1A, OPHN1
2MP:00036318.3ARHGEF6, GDI1, ATRX, AFF2, PAK3, MECP2

Publications for Mental Retardation

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Articles related to Mental Retardation:

(show top 50)    (show all 1810)
idTitleAuthorsYear
1
Case of fatal heart failure with biventricular noncompaction, genital skeletal abnormalities and mental retardation. (25550252)
2015
2
Heterozygous somatic activating AKT1 mutation in a case of Proteus syndrome with mental retardation. (24387135)
2014
3
Eosinophilic meningitis caused by Angiostrongylus cantonensis in an adolescent with mental retardation and pica disorder. (23445744)
2013
4
Sporadic juvenile amyotrophic lateral sclerosis caused by mutant FUS/TLS: possible association of mental retardation with this mutation. (22057404)
2012
5
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
6
Complex chromosome rearrangement 46,XY, der(9)t(Y;9)(q12;p23) in a girl with sex reversal and mental retardation. (20974486)
2011
7
Homozygosity mapping in outbred families with mental retardation. (21248743)
2011
8
X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome? (21744492)
2011
9
Altered mRNA transport, docking, and protein translation in neurons lacking fragile X mental retardation protein. (20713728)
2010
10
Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly. (20533527)
2010
11
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
12
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. (19736351)
2009
13
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
14
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. (19557857)
2009
15
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. (18278044)
2008
16
Anassociation study between OPHN1 gene rs492933 polymorphism and mental retardation in children of the Qinba Mountain region.]. (18930891)
2008
17
Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation. (17603797)
2007
18
A microduplication of CBP in a patient with mental retardation and a congenital heart defect. (17702016)
2007
19
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. (17478476)
2007
20
Dynamic translational and proteasomal regulation of fragile X mental retardation protein controls mGluR-dependent long-term depression. (16908410)
2006
21
Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. (16896345)
2006
22
CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. (16611748)
2006
23
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. (16249884)
2006
24
Alpha thalassaemia-mental retardation, X linked. (16722615)
2006
25
Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. (16541399)
2006
26
Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. (17100996)
2006
27
Mental retardation in a boy with anterior cervical hypertrichosis. (15800907)
2005
28
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
29
Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation. (15915161)
2005
30
Rho GTPases, dendritic structure, and mental retardation. (15884002)
2005
31
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. (15627943)
2004
32
A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation. (15173243)
2004
33
Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2. (15300451)
2004
34
Transport of fragile X mental retardation protein via granules in neurites of PC12 cells. (12417734)
2002
35
Activity-dependent regulation of genes implicated in X-linked non-specific mental retardation. (12207950)
2002
36
Penis agenesis associated with mental retardation: a case report. (12549651)
2002
37
Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation. (11357950)
2001
38
Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype. (10797441)
2000
39
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. (11017088)
2000
40
Oligomerization properties of fragile-X mental-retardation protein (FMRP) and the fragile-X-related proteins FXR1P and FXR2P. (10527928)
1999
41
Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome. (9832033)
1998
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
Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation. (9727739)
1998
44
Two cases of essential myoclonus, epilepsy, mental retardation and anxiety disorders. (9339874)
1997
45
Sertraline response in adults with mental retardation and autistic disorder. (8778118)
1996
46
Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation. (7581396)
1995
47
Blepharophimosis, ptosis and mental retardation: further delineation of Ohdo syndrome. (7519949)
1994
48
Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy. (1877622)
1991
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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Search GEO for disease gene expression data for Mental Retardation.

Pathways for genes affiliated with Mental Retardation

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Pathways related to Mental Retardation according to GeneCards Suite gene sharing:

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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Compounds related to Mental Retardation according to GeneCards Suite gene sharing:

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

GO Terms for genes affiliated with Mental Retardation

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Cellular components related to Mental Retardation according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:00057378.7FXR2, ATRX, PAK3, FTSJ1, CC2D1A, ACSL4

Biological processes related to Mental Retardation according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1dendrite developmentGO:001635810.1MECP2, PAK3
2regulation of RNA splicingGO:004348410.1PQBP1, AFF2
3regulation of small GTPase mediated signal transductionGO:00510569.9GDI1, OPHN1, ARHGEF6
4synapse organizationGO:00508089.8RAB39B, PAK3
5small GTPase mediated signal transductionGO:00072649.7ARHGEF6, OPHN1, RAB39B, GDI1

Products for genes affiliated with Mental Retardation

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Sources for Mental Retardation

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet