MCID: ATS204
MIFTS: 33

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 59 6 15
Autosomal Recessive Mental Retardation 12 37
Autosomal Recessive Non-Syndromic Mental Retardation 12
Mental Retardation, Autosomal Recessive 40
Ar-Nsid 59
Ns-Arid 59

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive non-syndromic intellectual disability
Inheritance: Autosomal recessive; Age of onset: Infancy;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060308
KEGG 37 H00768
Orphanet 59 ORPHA88616

Summaries for Autosomal Recessive Non-Syndromic Intellectual Disability

KEGG : 37
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 CC2D1A (Coiled-Coil And C2 Domain Containing 1A), and among its related pathways/superpathways is Mannose type O-glycan biosynthesis. Affiliated tissues include brain, and related phenotype is no effect.

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

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

(show top 50) (show all 98)
# 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 12.6
5 mental retardation, autosomal recessive 38 12.6
6 mental retardation, autosomal recessive 39 12.6
7 mental retardation, autosomal recessive 40 12.6
8 mental retardation, autosomal recessive 41 12.6
9 mental retardation, autosomal recessive 42 12.6
10 mental retardation, autosomal recessive 43 12.6
11 mental retardation, autosomal recessive 44 12.6
12 mental retardation, autosomal recessive 45 12.6
13 mental retardation, autosomal recessive 46 12.6
14 mental retardation, autosomal recessive 47 12.6
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

GenomeRNAi Phenotypes related to Autosomal Recessive Non-Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 AIMP1 B3GALNT2 C12orf4 CC2D1A CLIP1 CRADD

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

Anatomical Context for Autosomal Recessive Non-Syndromic Intellectual Disability

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

41
Brain

Publications for Autosomal Recessive Non-Syndromic Intellectual Disability

Articles related to Autosomal Recessive Non-Syndromic Intellectual Disability:

(show top 50) (show all 77)
# 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. 38 71
28143899 2017
2
A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family. 38 71
21739581 2011
3
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. 38 71
21063731 2011
4
Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. 38 71
20004765 2009
5
Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation. 38 71
20004764 2009
6
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. 38 71
17847003 2007
7
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. 38 71
17120046 2007
8
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. 71
27773430 2016
9
Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family. 71
27148795 2016
10
A null mutation in TNIK defines a novel locus for intellectual disability. 71
27106596 2016
11
Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family. 71
26566883 2016
12
Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy. 71
25823418 2015
13
Cerebral visual impairment and intellectual disability caused by PGAP1 variants. 71
25804403 2015
14
Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline. 71
26050939 2015
15
Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability. 71
26206890 2015
16
Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment. 71
25701870 2015
17
Expanding the spectrum of Grik2 mutations: intellectual disability, behavioural disorder, epilepsy and dystonia. 71
25039795 2015
18
Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability. 71
25480035 2014
19
NDST1 missense mutations in autosomal recessive intellectual disability. 71
25125150 2014
20
Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability. 71
24626631 2014
21
Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family. 71
24623383 2014
22
METTL23, a transcriptional partner of GABPA, is essential for human cognition. 71
24501276 2014
23
Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy. 71
24784135 2014
24
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. 71
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. 71
24220030 2013
26
A mental retardation-linked nonsense mutation in cereblon is rescued by proteasome inhibition. 71
23983124 2013
27
LINS, a modulator of the WNT signaling pathway, is involved in human cognition. 71
23773660 2013
28
TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype. 71
22549410 2013
29
A population-based study of autosomal-recessive disease-causing mutations in a founder population. 71
22981120 2012
30
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome. 71
22577224 2012
31
Mutations in NSUN2 cause autosomal-recessive intellectual disability. 71
22541559 2012
32
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability. 71
22541562 2012
33
Genetic mapping and exome sequencing identify variants associated with five novel diseases. 71
22279524 2012
34
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. 71
21629298 2011
35
ST3GAL3 mutations impair the development of higher cognitive functions. 71
21907012 2011
36
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 71
21937992 2011
37
MED23 mutation links intellectual disability to dysregulation of immediate early gene expression. 71
21868677 2011
38
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. 71
21763484 2011
39
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP. 71
21498477 2011
40
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. 71
21212097 2011
41
A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly. 71
20004763 2009
42
Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. 71
19646678 2009
43
Dysregulation of large-conductance Ca2+-activated K+ channel expression in nonsyndromal mental retardation due to a cereblon p.R419X mutation. 71
18414909 2008
44
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. 71
18455129 2008
45
Consensus statement for standard of care in spinal muscular atrophy. 71
17761659 2007
46
The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation. 71
16033914 2006
47
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview 71
20301507 2005
48
A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation. 71
15557513 2004
49
Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation. 71
12459588 2002
50
The genetic dissection of complex traits in a founder population. 71
11590547 2001

Variations for Autosomal Recessive Non-Syndromic Intellectual Disability

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 LHFPL5 NM_182548.4(LHFPL5): c.575T> C (p.Leu192Pro) single nucleotide variant Pathogenic rs1554147220 6:35782485-35782485 6:35814708-35814708
2 CC2D1A NM_017721.5(CC2D1A): c.748+1G> T single nucleotide variant Pathogenic rs876657679 19:14024452-14024452 19:13913639-13913639
3 EEF1D NM_001960.6(EEF1D): c.-7-2282G> A single nucleotide variant Pathogenic 8:144671304-144671304 8:143589134-143589134
4 CYHR1 NM_138496.1(CYHR1): c.246+13C> A single nucleotide variant Uncertain significance 8:145689830-145689830 8:144464447-144464447
5 MROH6 NM_001100878.2(MROH6): c.1904A> T (p.Asn635Ile) single nucleotide variant Uncertain significance 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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.98 ST3GAL3 B3GALNT2

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 GO:0005783 9.17 TUSC3 TRAPPC9 TECR MAN1B1 EEF1D B3GALNT2

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

# Name GO ID Score Top Affiliating Genes
1 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay GO:0043928 8.96 EDC3 DCPS
2 protein glycosylation GO:0006486 8.92 TUSC3 ST3GAL3 MAN1B1 B3GALNT2

Sources for Autosomal Recessive Non-Syndromic Intellectual Disability

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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