MCID: ATS204
MIFTS: 31

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 60 6 15
Autosomal Recessive Mental Retardation 12 38
Autosomal Recessive Non-Syndromic Mental Retardation 12
Mental Retardation, Autosomal Recessive ) 41
Ar-Nsid 60
Ns-Arid 60

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive non-syndromic intellectual disability
Inheritance: Autosomal recessive; Age of onset: Infancy;

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060308
KEGG 38 H00768
Orphanet 60 ORPHA88616

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 mental retardation, autosomal recessive 2 and mental retardation, autosomal recessive 5. 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

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 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 71)
# Related Disease Score Top Affiliating Genes
1 mental retardation, autosomal recessive 2 12.5
2 mental retardation, autosomal recessive 5 12.4
3 mental retardation, autosomal recessive 14 12.4
4 mental retardation, autosomal recessive 15 12.4
5 mental retardation, autosomal recessive 18 12.4
6 mental retardation, autosomal recessive 27 12.4
7 mental retardation, autosomal recessive 37 12.4
8 mental retardation, autosomal recessive 36 12.4
9 mental retardation, autosomal recessive 38 12.4
10 mental retardation, autosomal recessive 39 12.4
11 mental retardation, autosomal recessive 40 12.4
12 mental retardation, autosomal recessive 41 12.4
13 mental retardation, autosomal recessive 42 12.4
14 mental retardation, autosomal recessive 43 12.4
15 mental retardation, autosomal recessive 44 12.4
16 mental retardation, autosomal recessive 46 12.4
17 mental retardation, autosomal recessive 47 12.4
18 mental retardation, autosomal recessive 45 12.4
19 mental retardation, autosomal recessive 49 12.4
20 mental retardation, autosomal recessive 53 12.4
21 mental retardation, autosomal recessive 48 12.4
22 mental retardation, autosomal recessive 50 12.4
23 mental retardation, autosomal recessive 52 12.4
24 mental retardation, autosomal recessive 56 12.4
25 mental retardation, autosomal recessive 58 12.4
26 mental retardation, autosomal recessive 34, with variant lissencephaly 12.4
27 mental retardation, autosomal recessive 51 12.4
28 mental retardation, autosomal recessive 54 12.4
29 mental retardation, autosomal recessive 55 12.4
30 mental retardation, autosomal recessive 57 12.4
31 mental retardation, autosomal recessive 59 12.4
32 mental retardation, autosomal recessive 60 12.4
33 mental retardation, autosomal recessive 63 12.4
34 mental retardation, autosomal recessive 64 12.4
35 mental retardation, autosomal recessive 65 12.4
36 mental retardation, autosomal recessive 16 12.2
37 mental retardation, autosomal recessive 31 12.2
38 mental retardation, autosomal recessive 29 12.2
39 mental retardation, autosomal recessive 33 12.2
40 mental retardation, autosomal recessive 30 12.2
41 mental retardation, autosomal recessive 19 12.2
42 mental retardation, autosomal recessive 23 12.2
43 mental retardation, autosomal recessive 24 12.2
44 mental retardation, autosomal recessive 25 12.2
45 mental retardation, autosomal recessive 28 12.2
46 mental retardation, autosomal recessive 35 12.2
47 mental retardation, autosomal recessive 66 12.2
48 cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 11.3
49 hypermethioninemia due to adenosine kinase deficiency 11.3
50 glycosylphosphatidylinositol biosynthesis defect 16 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

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

47
# 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 rs1554147220 GRCh37 Chromosome 6, 35782485: 35782485
4 LHFPL5 NM_182548.3(LHFPL5): c.575T> C (p.Leu192Pro) single nucleotide variant Pathogenic rs1554147220 GRCh38 Chromosome 6, 35814708: 35814708
5 MROH6 NM_001100878.2(MROH6): c.1904A> T (p.Asn635Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 143567640: 143567640
6 MROH6 NM_001100878.2(MROH6): c.1904A> T (p.Asn635Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 144649810: 144649810
7 EEF1D NM_001130053.3(EEF1D): c.948G> A (p.Trp316Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 8, 143589134: 143589134
8 EEF1D NM_001130053.3(EEF1D): c.948G> A (p.Trp316Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 8, 144671304: 144671304
9 CYHR1 NM_001129888.1(CYHR1): c.259C> A (p.Arg87Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 8, 145689830: 145689830
10 CYHR1 NM_001129888.1(CYHR1): c.259C> A (p.Arg87Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 8, 144464447: 144464447

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 endoplasmic reticulum membrane GO:0005789 9.43 LMAN2L MAN1B1 MBOAT7 PIGC TECR TUSC3
2 endoplasmic reticulum GO:0005783 9.17 EEF1D LMAN2L MAN1B1 PIGC TECR TRAPPC9
3 membrane GO:0016020 10 CC2D1A CRBN FRRS1L GRIK2 LHFPL5 LMAN2L

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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