MCID: ATS204
MIFTS: 29

Autosomal Recessive Non-Syndromic Intellectual Disability

Categories: Neuronal diseases, Rare diseases
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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 58 28 5
Ar-Nsid 58
Ns-Arid 58

Characteristics:


Inheritance:

Autosomal recessive 58

Age Of Onset:

Infancy 58

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Autosomal Recessive Non-Syndromic Intellectual Disability

MalaCards based summary: Autosomal Recessive Non-Syndromic Intellectual Disability, also known as ar-nsid, is related to autosomal recessive intellectual developmental disorder and syndromic intellectual disability. An important gene associated with Autosomal Recessive Non-Syndromic Intellectual Disability is CC2D1A (Coiled-Coil And C2 Domain Containing 1A). Related phenotypes are delayed speech and language development and global developmental delay

Related Diseases for Autosomal Recessive Non-Syndromic Intellectual Disability

Diseases in the Rare Non-Syndromic Intellectual Disability family:

Autosomal Dominant Non-Syndromic Intellectual Disability Autosomal Recessive Non-Syndromic Intellectual Disability

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

# Related Disease Score Top Affiliating Genes
1 autosomal recessive intellectual developmental disorder 32.3 TRAPPC9 LHFPL5 EEF1D CRBN CC2D1A
2 syndromic intellectual disability 10.2
3 microcephaly 10.2
4 non-syndromic x-linked intellectual disability 10.0 FBXO31 DCPS ALKBH8

Symptoms & Phenotypes for Autosomal Recessive Non-Syndromic Intellectual Disability

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

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

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.77 ABCA2 AIMP1 ALKBH8 C12orf4 CC2D1A CHKA
2 behavior/neurological MP:0005386 9.4 ABCA2 AIMP1 C12orf4 CC2D1A CRBN EDC3

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 28

Anatomical Context for Autosomal Recessive Non-Syndromic Intellectual Disability

Publications for Autosomal Recessive Non-Syndromic Intellectual Disability

Articles related to Autosomal Recessive Non-Syndromic Intellectual Disability:

(show all 15)
# Title Authors PMID Year
1
Biallelic loss of EEF1D function links heat shock response pathway to autosomal recessive intellectual disability. 5
30787422 2019
2
CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis. 5
25066123 2014
3
A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability. 62
36348459 2022
4
A novel variant of ST3GAL3 causes non-syndromic autosomal recessive intellectual disability in Iranian patients. 62
32666583 2020
5
Fine mapping of MRT9 locus through genome wide homozygosity mapping in a consanguineous Pakistani family. 62
31853126 2019
6
A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family. 62
28143899 2017
7
Ohgata, the Single Drosophila Ortholog of Human Cereblon, Regulates Insulin Signaling-dependent Organismic Growth. 62
27702999 2016
8
Multiplex PCR Analysis of 17 (11 Novels) STR Markers Linked to Six Autosomal Recessive Intellectual Disability Genes in Iranian Population. 62
27012031 2016
9
Examining non-syndromic autosomal recessive intellectual disability (NS-ARID) genes for an enriched association with intelligence differences. 62
26912939 2016
10
Frequencies of Six (Five Novel) STR Markers Linked to TUSC3 (MRT7) or NSUN2 (MRT5) Genes Used for Homozygosity Mapping of Recessive Intellectual Disability. 62
26427135 2015
11
Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers. 62
25626710 2015
12
New kid on the ID block: neural functions of the Nab2/ZC3H14 class of Cys₃His tandem zinc-finger polyadenosine RNA binding proteins. 62
22614829 2012
13
Behavioral characterization of cereblon forebrain-specific conditional null mice: a model for human non-syndromic intellectual disability. 62
21995942 2012
14
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. 62
21629298 2011
15
Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. 62
21763484 2011

Variations for Autosomal Recessive Non-Syndromic Intellectual Disability

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

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LHFPL5 NM_182548.4(LHFPL5):c.575T>C (p.Leu192Pro) SNV Pathogenic
375705 rs1554147220 GRCh37: 6:35782485-35782485
GRCh38: 6:35814708-35814708
2 EEF1D NM_001130053.5(EEF1D):c.948G>A (p.Trp316Ter) SNV Pathogenic
599374 rs1563978827 GRCh37: 8:144671304-144671304
GRCh38: 8:143589134-143589134
3 TRAPPC9 NM_001160372.4(TRAPPC9):c.1994dup (p.Val666fs) DUP Pathogenic
1683498 GRCh37: 8:141294107-141294108
GRCh38: 8:140284008-140284009
4 CC2D1A NM_017721.5(CC2D1A):c.2347C>T (p.Arg783Ter) SNV Pathogenic
1699097 GRCh37: 19:14038736-14038736
GRCh38: 19:13927923-13927923
5 ZFTRAF1, LOC84773-CYHR1, TMEM276 NM_032687.4(TMEM276):c.259C>A (p.Arg87Ser) SNV Uncertain Significance
599376 rs752345868 GRCh37: 8:145689830-145689830
GRCh38: 8:144464447-144464447
6 MROH6 NM_001100878.2(MROH6):c.1904A>T (p.Asn635Ile) SNV Uncertain Significance
599375 rs1173787317 GRCh37: 8:144649810-144649810
GRCh38: 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

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 eukaryotic translation elongation factor 1 complex GO:0005853 8.92 EEF1D EEF1B2

Sources for Autosomal Recessive Non-Syndromic Intellectual Disability

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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