MRT40
MCID: MNT213
MIFTS: 26

Mental Retardation, Autosomal Recessive 40 (MRT40)

Categories: Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mental Retardation, Autosomal Recessive 40

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 40:

Name: Mental Retardation, Autosomal Recessive 40 57 72 29 6 70
Mrt40 57 72
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome 58
Mental Retardation, Autosomal Recessive, Type 40 39

Characteristics:

Orphanet epidemiological data:

58
microcephaly-thin corpus callosum-intellectual disability syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
two unrelated families have been reported (last curated january 2014)


HPO:

31
mental retardation, autosomal recessive 40:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Mental Retardation, Autosomal Recessive 40

UniProtKB/Swiss-Prot : 72 Mental retardation, autosomal recessive 40: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT40 affected individuals also show microcephaly, spasticity, thin corpus callosum, pyramidal signs.

MalaCards based summary : Mental Retardation, Autosomal Recessive 40, also known as mrt40, is related to alacrima, achalasia, and mental retardation syndrome and autosomal recessive disease, and has symptoms including muscle spasticity and abnormal pyramidal signs. An important gene associated with Mental Retardation, Autosomal Recessive 40 is TAF2 (TATA-Box Binding Protein Associated Factor 2). Related phenotypes are intellectual disability and spasticity

More information from OMIM: 615599 PS249500

Related Diseases for Mental Retardation, Autosomal Recessive 40

Diseases in the Mental Retardation, Autosomal Dominant 7 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Dominant 20
Mental Retardation, Autosomal Recessive 14 Mental Retardation, Autosomal Recessive 16
Mental Retardation, Autosomal Recessive 18 Mental Retardation, Autosomal Dominant 10
Mental Retardation, Autosomal Dominant 11 Mental Retardation, Autosomal Recessive 31
Mental Retardation, Autosomal Recessive 29 Mental Retardation, Autosomal Recessive 27
Mental Retardation, Autosomal Recessive 33 Mental Retardation, Autosomal Recessive 30
Mental Retardation, Autosomal Recessive 19 Mental Retardation, Autosomal Recessive 23
Mental Retardation, Autosomal Recessive 24 Mental Retardation, Autosomal Recessive 25
Mental Retardation, Autosomal Recessive 28 Mental Retardation, Autosomal Dominant 13
Mental Retardation, Autosomal Recessive 35 Mental Retardation, Autosomal Recessive 36
Mental Retardation, Autosomal Recessive 37 Mental Retardation, Autosomal Dominant 21
Mental Retardation, Autosomal Recessive 38 Mental Retardation, Autosomal Recessive 39
Mental Retardation, Autosomal Recessive 40 Mental Retardation, Autosomal Recessive 41
Mental Retardation, Autosomal Dominant 23 Mental Retardation, Autosomal Recessive 42
Mental Retardation, Autosomal Recessive 43 Mental Retardation, Autosomal Dominant 26
Mental Retardation, Autosomal Recessive 44 Mental Retardation, Autosomal Recessive 45
Mental Retardation, Autosomal Dominant 29 Mental Retardation, Autosomal Dominant 30
Mental Retardation, Autosomal Recessive 46 Mental Retardation, Autosomal Dominant 31
Mental Retardation, Autosomal Recessive 47 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Dominant 33 Mental Retardation, Autosomal Dominant 34
Mental Retardation, Autosomal Dominant 35 Mental Retardation, Autosomal Dominant 36
Mental Retardation, Autosomal Dominant 38 Mental Retardation, Autosomal Recessive 50
Mental Retardation, Autosomal Dominant 39 Mental Retardation, Autosomal Dominant 40
Mental Retardation, Autosomal Recessive 51 Mental Retardation, Autosomal Recessive 52
Mental Retardation, Autosomal Recessive 53 Mental Retardation, Autosomal Dominant 41
Mental Retardation, Autosomal Dominant 42 Mental Retardation, Autosomal Dominant 43
Mental Retardation, Autosomal Recessive 54 Mental Retardation, Autosomal Recessive 56
Mental Retardation, Autosomal Recessive 57 Mental Retardation, Autosomal Recessive 58
Mental Retardation, Autosomal Recessive 59 Mental Retardation, Autosomal Recessive 60
Mental Retardation, Autosomal Dominant 45 Mental Retardation, Autosomal Dominant 46
Mental Retardation, Autosomal Dominant 47 Mental Retardation, Autosomal Dominant 48
Mental Retardation, Autosomal Recessive 61 Mental Retardation, Autosomal Dominant 50
Mental Retardation, Autosomal Dominant 51 Mental Retardation, Autosomal Dominant 52
Mental Retardation, Autosomal Dominant 53 Mental Retardation, Autosomal Dominant 54
Mental Retardation, Autosomal Dominant 56 Mental Retardation, Autosomal Dominant 57
Mental Retardation, Autosomal Recessive 63 Mental Retardation, Autosomal Recessive 64
Mental Retardation, Autosomal Dominant 58 Mental Retardation, Autosomal Recessive 65
Mental Retardation, Autosomal Recessive 66 Autosomal Dominant Mental Retardation 55

Diseases related to Mental Retardation, Autosomal Recessive 40 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 10.3
2 autosomal recessive disease 10.3
3 microcephaly 10.3

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 40

Human phenotypes related to Mental Retardation, Autosomal Recessive 40:

58 31 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
3 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
4 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
5 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
6 babinski sign 58 31 frequent (33%) Frequent (79-30%) HP:0003487
7 hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0002079
8 postnatal microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0005484
9 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
10 delayed myelination 58 31 frequent (33%) Frequent (79-30%) HP:0012448
11 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
12 abnormality of retinal pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007703
13 bicuspid aortic valve 58 31 occasional (7.5%) Occasional (29-5%) HP:0001647
14 cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002059
15 horizontal nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000666
16 exotropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000577
17 nystagmus 31 occasional (7.5%) HP:0000639
18 abnormal foot morphology 31 occasional (7.5%) HP:0001760
19 abnormal pyramidal sign 58 Frequent (79-30%)
20 abnormality of the foot 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
delayed myelination
mental retardation
pyramidal signs
more
Head And Neck Eyes:
nystagmus (1 patient)
pigmentary retinal changes (1 patient)

Skeletal Feet:
foot deformities (1 family)

Cardiovascular Heart:
bicuspid aortic valve (1 patient)

Head And Neck Head:
microcephaly, postnatal (-2 to -5.5 sd)

Clinical features from OMIM®:

615599 (Updated 05-Apr-2021)

UMLS symptoms related to Mental Retardation, Autosomal Recessive 40:


muscle spasticity; abnormal pyramidal signs

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 40

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 40

Genetic Tests for Mental Retardation, Autosomal Recessive 40

Genetic tests related to Mental Retardation, Autosomal Recessive 40:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Recessive 40 29 TAF2

Anatomical Context for Mental Retardation, Autosomal Recessive 40

Publications for Mental Retardation, Autosomal Recessive 40

Articles related to Mental Retardation, Autosomal Recessive 40:

# Title Authors PMID Year
1
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 57 6
21937992 2011
2
Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2. 57
24084144 2013
3
Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12. 57
22633631 2012
4
The influence of strength and power on muscle endurance test performance. 61
19620916 2009

Variations for Mental Retardation, Autosomal Recessive 40

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 40:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TAF2 NM_003184.4(TAF2):c.1945T>C (p.Trp649Arg) SNV Pathogenic 92249 rs398124645 GRCh37: 8:120795788-120795788
GRCh38: 8:119783548-119783548
2 TAF2 NM_003184.4(TAF2):c.2531C>T (p.Pro844Leu) SNV Likely pathogenic 666328 rs750451843 GRCh37: 8:120774682-120774682
GRCh38: 8:119762442-119762442
3 TAF2 NM_003184.4(TAF2):c.1247C>A (p.Pro416His) SNV Uncertain significance 92250 rs398124655 GRCh37: 8:120805636-120805636
GRCh38: 8:119793396-119793396
4 TAF2 NM_003184.4(TAF2):c.557C>G (p.Thr186Arg) SNV Uncertain significance 92251 rs398124656 GRCh37: 8:120816121-120816121
GRCh38: 8:119803881-119803881
5 TAF2 NM_003184.4(TAF2):c.83+3A>G SNV Uncertain significance 1030638 GRCh37: 8:120844719-120844719
GRCh38: 8:119832479-119832479
6 TAF2 NM_003184.4(TAF2):c.157A>G (p.Ile53Val) SNV Uncertain significance 436942 rs112002462 GRCh37: 8:120831728-120831728
GRCh38: 8:119819488-119819488

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Recessive 40:

72
# Symbol AA change Variation ID SNP ID
1 TAF2 p.Trp649Arg VAR_070947 rs398124645

Expression for Mental Retardation, Autosomal Recessive 40

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 40.

Pathways for Mental Retardation, Autosomal Recessive 40

GO Terms for Mental Retardation, Autosomal Recessive 40

Sources for Mental Retardation, Autosomal Recessive 40

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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