MCID: ATS204
MIFTS: 28

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
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
Orphanet 59 ORPHA88616
KEGG 37 H00768

Summaries for Autosomal Recessive Non-Syndromic Intellectual Disability

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

MalaCards based summary : Autosomal Recessive Non-Syndromic Intellectual Disability, also known as autosomal recessive mental retardation, is related to hyperphosphatasia with mental retardation syndrome 3 and mental retardation, autosomal recessive 61. 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 Transport to the Golgi and subsequent modification. Related phenotypes are behavior/neurological and nervous system

Related Diseases for Autosomal Recessive Non-Syndromic Intellectual Disability

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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.65 CC2D1A CRBN FRRS1L GRIK2 HNMT LHFPL5
2 nervous system MP:0003631 9.32 CC2D1A GRIK2 HNMT 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

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 17)
# Title Authors Year
1
Genetics of non-syndromic autosomal recessive mental retardation. ( 23865144 )
2013
2
Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel. ( 21643797 )
2011
3
Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family. ( 20943778 )
2011
4
Non-syndromic autosomal recessive mental retardation in Tunisian families : exclusion of GRIK2 and TUSC3 genes. ( 21557188 )
2011
5
A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family. ( 21739581 )
2011
6
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. ( 21063731 )
2011
7
Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan. ( 20345473 )
2010
8
Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. ( 20004765 )
2009
9
Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation. ( 20004764 )
2009
10
Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. ( 19068953 )
2008
11
CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. ( 18387594 )
2008
12
A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. ( 18452889 )
2008
13
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. ( 17847003 )
2007
14
Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome. ( 17618476 )
2007
15
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. ( 16311745 )
2006
16
An autosomal recessive mental retardation syndrome with hepatic fibrosis and renal cysts. ( 3085498 )
1986
17
Two "new" autosomal recessive mental retardation syndromes observed among the Amish. ( 142529 )
1977

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 Assembly Location
1 CC2D1A NM_017721.4(CC2D1A): c.748+1G> T single nucleotide variant Pathogenic rs876657679 GRCh38 Chromosome 19, 13913639: 13913639
2 CC2D1A NM_017721.4(CC2D1A): c.748+1G> T single nucleotide variant Pathogenic rs876657679 GRCh37 Chromosome 19, 14024452: 14024452
3 LHFPL5 NM_182548.3(LHFPL5): c.575T> C (p.Leu192Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 35782485: 35782485
4 LHFPL5 NM_182548.3(LHFPL5): c.575T> C (p.Leu192Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 35814708: 35814708

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 membrane GO:0016020 9.8 CC2D1A CRBN FRRS1L GRIK2 LHFPL5 LMAN2L
2 endoplasmic reticulum membrane GO:0005789 9.1 LMAN2L MAN1B1 MBOAT7 PIGC TECR TUSC3

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 MAN1B1 ST3GAL3 TUSC3

Sources for Autosomal Recessive Non-Syndromic Intellectual Disability

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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45 MESH via Orphanet
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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