MCID: MNT213
MIFTS: 24

Mental Retardation, Autosomal Recessive 40

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental diseases, Eye diseases, Cardiovascular diseases, Bone diseases, Metabolic diseases, Skin diseases, Gastrointestinal 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 75 29 6 73
Mrt40 57 75
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome 59
Mental Retardation, Autosomal Recessive, Type 40 40

Characteristics:

Orphanet epidemiological data:

59
microcephaly-thin corpus callosum-intellectual disability syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
mental retardation, autosomal recessive 40:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Recessive 40

UniProtKB/Swiss-Prot : 75 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 microcephaly, 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 nystagmus and intellectual disability

Description from OMIM: 615599

Related Diseases for Mental Retardation, Autosomal Recessive 40

Diseases in the Mental Retardation, Autosomal Dominant 20 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Recessive 14
Mental Retardation, Autosomal Dominant 7 Mental Retardation, Autosomal Recessive 15
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 Dominant 18
Mental Retardation, Autosomal Dominant 19 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 24 Mental Retardation, Autosomal Dominant 26
Mental Retardation, Autosomal Dominant 27 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 Dominant 32 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Recessive 49 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 55 Mental Retardation, Autosomal Dominant 44
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 Dominant 49
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 Autosomal Dominant Mental Retardation 55
Autosomal Dominant Mental Retardation 61

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 microcephaly 10.3

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 40

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Mental Retardation, Autosomal Recessive 40:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 occasional (7.5%) HP:0000639
2 intellectual disability 32 HP:0001249
3 spasticity 32 HP:0001257
4 hyperreflexia 32 HP:0001347
5 global developmental delay 32 HP:0001263
6 bicuspid aortic valve 32 occasional (7.5%) HP:0001647
7 babinski sign 32 HP:0003487
8 abnormality of the foot 32 occasional (7.5%) HP:0001760
9 hypoplasia of the corpus callosum 32 HP:0002079
10 postnatal microcephaly 32 HP:0005484
11 poor speech 32 HP:0002465
12 delayed myelination 32 HP:0012448

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 Year
1
Microcephaly thin corpus callosum intellectual disability syndrome caused by mutated TAF2. ( 24084144 )
2013

Variations for Mental Retardation, Autosomal Recessive 40

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

75
# Symbol AA change Variation ID SNP ID
1 TAF2 p.Trp649Arg VAR_070947 rs398124645

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TAF2 NM_003184.3(TAF2): c.1945T> C (p.Trp649Arg) single nucleotide variant Pathogenic rs398124645 GRCh37 Chromosome 8, 120795788: 120795788
2 TAF2 NM_003184.3(TAF2): c.1945T> C (p.Trp649Arg) single nucleotide variant Pathogenic rs398124645 GRCh38 Chromosome 8, 119783548: 119783548

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 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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45 MESH via Orphanet
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49 NCI
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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