MCID: ATS204
MIFTS: 44

Autosomal Recessive Non-Syndromic Intellectual Disability

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Non-Syndromic Intellectual Disability

MalaCards integrated aliases for Autosomal Recessive Non-Syndromic Intellectual Disability:

Name: Autosomal Recessive Non-Syndromic Intellectual Disability 12 58 29 6 15
Autosomal Recessive Mental Retardation 12 36
Autosomal Recessive Non-Syndromic Mental Retardation 12
Mental Retardation, Autosomal Recessive 39
Ar-Nsid 58
Ns-Arid 58

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive non-syndromic intellectual disability
Inheritance: Autosomal recessive; Age of onset: Infancy;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Autosomal Recessive Non-Syndromic Intellectual Disability

KEGG : 36 Mental retardation (MR) is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. Although X-linked MR has been extensively studied, and over 80 causal genes have been cloned, little is known about the genetic basis of autosomal recessive mental retardation (MRT). To date, several genes have been identified. These genes have a variety of functions and participate in multiple biochemical pathways. In addition, there are several known disease loci for which genes have not yet been identified.

MalaCards based summary : Autosomal Recessive Non-Syndromic Intellectual Disability, also known as autosomal recessive mental retardation, is related to mental retardation, autosomal recessive 2 and mental retardation, autosomal recessive 18. An important gene associated with Autosomal Recessive Non-Syndromic Intellectual Disability is EEF1D (Eukaryotic Translation Elongation Factor 1 Delta), and among its related pathways/superpathways are Various types of N-glycan biosynthesis and Transport to the Golgi and subsequent modification. Affiliated tissues include brain and liver, and related phenotypes are delayed speech and language development and global developmental delay

Disease Ontology : 12 A non-syndromic intellectual disability characterized by an autosomal recessive inheritance pattern.

Related Diseases for Autosomal Recessive Non-Syndromic Intellectual Disability

Diseases in the Non-Syndromic Intellectual Disability family:

Autosomal Dominant Non-Syndromic Intellectual Disability Autosomal Recessive Non-Syndromic Intellectual Disability
Autosomal Dominant Non-Syndromic Intellectual Disability 1 Autosomal Dominant Non-Syndromic Intellectual Disability 2
Autosomal Dominant Non-Syndromic Intellectual Disability 3 Autosomal Dominant Non-Syndromic Intellectual Disability 4
Autosomal Dominant Non-Syndromic Intellectual Disability 5 Autosomal Dominant Non-Syndromic Intellectual Disability 6
Autosomal Dominant Non-Syndromic Intellectual Disability 8 Autosomal Dominant Non-Syndromic Intellectual Disability 9
Autosomal Dominant Non-Syndromic Intellectual Disability 19 Autosomal Dominant Non-Syndromic Intellectual Disability 27
Syngap1-Related Non-Syndromic Intellectual Disability

Diseases related to Autosomal Recessive Non-Syndromic Intellectual Disability via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 100)
# Related Disease Score Top Affiliating Genes
1 mental retardation, autosomal recessive 2 12.7
2 mental retardation, autosomal recessive 18 12.7
3 mental retardation, autosomal recessive 37 12.7
4 mental retardation, autosomal recessive 36 12.7
5 mental retardation, autosomal recessive 38 12.7
6 mental retardation, autosomal recessive 39 12.7
7 mental retardation, autosomal recessive 40 12.7
8 mental retardation, autosomal recessive 41 12.7
9 mental retardation, autosomal recessive 42 12.7
10 mental retardation, autosomal recessive 43 12.7
11 mental retardation, autosomal recessive 44 12.7
12 mental retardation, autosomal recessive 45 12.7
13 mental retardation, autosomal recessive 46 12.7
14 mental retardation, autosomal recessive 47 12.7
15 mental retardation, autosomal recessive 48 12.6
16 mental retardation, autosomal recessive 49 12.6
17 mental retardation, autosomal recessive 50 12.6
18 mental retardation, autosomal recessive 52 12.6
19 mental retardation, autosomal recessive 53 12.6
20 mental retardation, autosomal recessive 64 12.6
21 mental retardation, autosomal recessive 51 12.6
22 mental retardation, autosomal recessive 54 12.6
23 mental retardation, autosomal recessive 55 12.6
24 mental retardation, autosomal recessive 56 12.6
25 mental retardation, autosomal recessive 57 12.6
26 mental retardation, autosomal recessive 58 12.6
27 mental retardation, autosomal recessive 59 12.6
28 mental retardation, autosomal recessive 60 12.6
29 mental retardation, autosomal recessive 63 12.6
30 mental retardation, autosomal recessive 65 12.6
31 mental retardation, autosomal recessive 66 12.6
32 mental retardation, autosomal recessive 34, with variant lissencephaly 12.6
33 mental retardation, autosomal recessive 30 12.4
34 mental retardation, autosomal recessive 19 12.4
35 mental retardation, autosomal recessive 23 12.4
36 mental retardation, autosomal recessive 24 12.4
37 mental retardation, autosomal recessive 25 12.4
38 mental retardation, autosomal recessive 28 12.4
39 mental retardation, autosomal recessive 35 12.4
40 hyperphosphatasia with mental retardation syndrome 3 11.8
41 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 11.5
42 glycosylphosphatidylinositol biosynthesis defect 16 11.5
43 intellectual developmental disorder, autosomal recessive 67 11.4
44 intellectual developmental disorder, autosomal recessive 68 11.4
45 intellectual developmental disorder, autosomal recessive 69 11.4
46 intellectual developmental disorder, autosomal recessive 70 11.4
47 mental retardation, autosomal recessive 61 11.3
48 kahrizi syndrome 11.3
49 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 11.3
50 intellectual developmental disorder, autosomal recessive 71 11.3

Graphical network of the top 20 diseases related to Autosomal Recessive Non-Syndromic Intellectual Disability:



Diseases related to Autosomal Recessive Non-Syndromic Intellectual Disability

Symptoms & Phenotypes for Autosomal Recessive Non-Syndromic Intellectual Disability

Human phenotypes related to Autosomal Recessive Non-Syndromic Intellectual Disability:

58 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
2 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
3 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
4 intellectual disability, moderate 58 31 frequent (33%) Frequent (79-30%) HP:0002342
5 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
6 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
7 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
8 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
9 sleep disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0002360
10 chorea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002072
11 dyskinesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100660
12 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
13 stereotypy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000733
14 hyperactivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000752
15 nasogastric tube feeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0040288
16 dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001332
17 poor speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0002465
18 generalized-onset seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002197
19 hypsarrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002521
20 focal-onset seizure 58 31 occasional (7.5%) Occasional (29-5%) HP:0007359
21 autistic behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0000729
22 short attention span 58 31 occasional (7.5%) Occasional (29-5%) HP:0000736
23 impulsivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0100710
24 absent septum pellucidum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001331
25 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
26 polymicrogyria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002126
27 cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002059
28 cortical dysplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002539
29 epileptic spasms 58 31 occasional (7.5%) Occasional (29-5%) HP:0011097
30 cerebral visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100704
31 multifocal epileptiform discharges 58 31 occasional (7.5%) Occasional (29-5%) HP:0010841
32 large basal ganglia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007048
33 depressivity 58 31 very rare (1%) Very rare (<4-1%) HP:0000716
34 intellectual disability, mild 58 31 very rare (1%) Very rare (<4-1%) HP:0001256
35 seizures 58 Frequent (79-30%)
36 muscular hypotonia 58 Occasional (29-5%)
37 eeg with generalized epileptiform discharges 58 Occasional (29-5%)
38 eeg with focal epileptiform discharges 58 Occasional (29-5%)

MGI Mouse Phenotypes related to Autosomal Recessive Non-Syndromic Intellectual Disability:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 AIMP1 CC2D1A CRBN FMN2 GRIK2 LHFPL5
2 nervous system MP:0003631 9.36 CC2D1A CRBN GRIK2 LHFPL5 MBOAT7 MED23

Drugs & Therapeutics for Autosomal Recessive Non-Syndromic Intellectual Disability

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Non-Syndromic Intellectual Disability

Genetic Tests for Autosomal Recessive Non-Syndromic Intellectual Disability

Genetic tests related to Autosomal Recessive Non-Syndromic Intellectual Disability:

# Genetic test Affiliating Genes
1 Autosomal Recessive Non-Syndromic Intellectual Disability 29

Anatomical Context for Autosomal Recessive Non-Syndromic Intellectual Disability

MalaCards organs/tissues related to Autosomal Recessive Non-Syndromic Intellectual Disability:

40
Brain, Liver

Publications for Autosomal Recessive Non-Syndromic Intellectual Disability

Articles related to Autosomal Recessive Non-Syndromic Intellectual Disability:

(show top 50) (show all 79)
# Title Authors PMID Year
1
A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family. 61 6
28143899 2017
2
A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family. 61 6
21739581 2011
3
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. 61 6
21063731 2011
4
Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. 61 6
20004765 2009
5
Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation. 61 6
20004764 2009
6
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. 61 6
17847003 2007
7
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. 61 6
17120046 2007
8
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. 6
27773430 2016
9
A null mutation in TNIK defines a novel locus for intellectual disability. 6
27106596 2016
10
Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family. 6
27148795 2016
11
Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family. 6
26566883 2016
12
Cerebral visual impairment and intellectual disability caused by PGAP1 variants. 6
25804403 2015
13
Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy. 6
25823418 2015
14
Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline. 6
26050939 2015
15
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability. 6
26206890 2015
16
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment. 6
25701870 2015
17
Expanding the spectrum of Grik2 mutations: intellectual disability, behavioural disorder, epilepsy and dystonia. 6
25039795 2015
18
Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability. 6
25480035 2014
19
NDST1 missense mutations in autosomal recessive intellectual disability. 6
25125150 2014
20
Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability. 6
24626631 2014
21
Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family. 6
24623383 2014
22
METTL23, a transcriptional partner of GABPA, is essential for human cognition. 6
24501276 2014
23
Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy. 6
24784135 2014
24
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 6
24482476 2014
25
Mutation for nonsyndromic mental retardation in the trans-2-enoyl-CoA reductase TER gene involved in fatty acid elongation impairs the enzyme activity and stability, leading to change in sphingolipid profile. 6
24220030 2013
26
A mental retardation-linked nonsense mutation in cereblon is rescued by proteasome inhibition. 6
23983124 2013
27
LINS, a modulator of the WNT signaling pathway, is involved in human cognition. 6
23773660 2013
28
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype. 6
22549410 2013
29
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 6
22981120 2012
30
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome. 6
22577224 2012
31
Mutations in NSUN2 cause autosomal-recessive intellectual disability. 6
22541559 2012
32
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability. 6
22541562 2012
33
Genetic mapping and exome sequencing identify variants associated with five novel diseases. 6
22279524 2012
34
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. 6
21629298 2011
35
Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. 6
21963049 2011
36
ST3GAL3 mutations impair the development of higher cognitive functions. 6
21907012 2011
37
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 6
21937992 2011
38
MED23 mutation links intellectual disability to dysregulation of immediate early gene expression. 6
21868677 2011
39
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. 6
21763484 2011
40
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP. 6
21498477 2011
41
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. 6
21212097 2011
42
A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly. 6
20004763 2009
43
Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. 6
19646678 2009
44
Dysregulation of large-conductance Ca2+-activated K+ channel expression in nonsyndromal mental retardation due to a cereblon p.R419X mutation. 6
18414909 2008
45
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. 6
18455129 2008
46
Consensus statement for standard of care in spinal muscular atrophy. 6
17761659 2007
47
The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation. 6
16033914 2006
48
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview 6
20301507 2005
49
A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation. 6
15557513 2004
50
Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation. 6
12459588 2002

Variations for Autosomal Recessive Non-Syndromic Intellectual Disability

ClinVar genetic disease variations for Autosomal Recessive Non-Syndromic Intellectual Disability:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LHFPL5 NM_182548.4(LHFPL5):c.575T>C (p.Leu192Pro)SNV Pathogenic 375705 rs1554147220 6:35782485-35782485 6:35814708-35814708
2 EEF1D NM_001960.6(EEF1D):c.-7-2282G>ASNV Pathogenic 599374 rs1563978827 8:144671304-144671304 8:143589134-143589134
3 CYHR1 NM_138496.1(CYHR1):c.246+13C>ASNV Uncertain significance 599376 rs752345868 8:145689830-145689830 8:144464447-144464447
4 MROH6 NM_001100878.2(MROH6):c.1904A>T (p.Asn635Ile)SNV Uncertain significance 599375 rs1173787317 8:144649810-144649810 8:143567640-143567640

Expression for Autosomal Recessive Non-Syndromic Intellectual Disability

Search GEO for disease gene expression data for Autosomal Recessive Non-Syndromic Intellectual Disability.

Pathways for Autosomal Recessive Non-Syndromic Intellectual Disability

Pathways related to Autosomal Recessive Non-Syndromic Intellectual Disability according to KEGG:

36
# Name Kegg Source Accession
1 Various types of N-glycan biosynthesis hsa00513

GO Terms for Autosomal Recessive Non-Syndromic Intellectual Disability

Cellular components related to Autosomal Recessive Non-Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.5 TUSC3 TECR PGAP1 MBOAT7 MAN1B1 LMAN2L
2 endoplasmic reticulum GO:0005783 9.32 TUSC3 TRAPPC9 TECR PGAP1 MBOAT7 MAN1B1
3 mediator complex GO:0016592 9.26 MED25 MED23
4 dendrite cytoplasm GO:0032839 9.16 ZC3H14 GRIK2

Biological processes related to Autosomal Recessive Non-Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 8.8 TUSC3 ST3GAL3 MAN1B1

Sources for Autosomal Recessive Non-Syndromic Intellectual Disability

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
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17 EFO
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33 ICD10 via Orphanet
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61 PubMed
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68 SNOMED-CT via HPO
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