MCID: ATS204
MIFTS: 23

Autosomal Recessive Non-Syndromic Intellectual Disability

Categories: Neuronal diseases, Rare diseases, Mental 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 Non-Syndromic Mental Retardation 12
Autosomal Recessive 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

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 non-syndromic mental retardation, is related to hyperphosphatasia with mental retardation syndrome 3 and kahrizi syndrome. An important gene associated with Autosomal Recessive Non-Syndromic Intellectual Disability is CC2D1A (Coiled-Coil And C2 Domain Containing 1A).

Related Diseases for 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:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 hyperphosphatasia with mental retardation syndrome 3 11.1
2 kahrizi syndrome 11.0
3 mental retardation, autosomal recessive 61 11.0
4 acrocallosal syndrome 10.8
5 non-syndromic intellectual disability 10.3 CC2D1A LINS1 PRSS12 TRAPPC9
6 retinitis pigmentosa 10.0
7 leber congenital amaurosis 4 10.0
8 retinitis 10.0
9 hypophosphatemia 9.9
10 microcephaly 9.9
11 ankylosis 9.9

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

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:

# Title Authors Year
1
Computational Analysis of TRAPPC9: Candidate Gene for Autosomal Recessive Non-Syndromic Mental Retardation. ( 24040793 )
2013
2
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. ( 21212097 )
2011
3
A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3. ( 17309643 )
2007
4
The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation. ( 16033914 )
2006
5
Mapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneity. ( 14569116 )
2003

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

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 9.33 MAN1B1 ST3GAL3 TUSC3
2 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay GO:0043928 8.96 DCPS EDC3
3 oligosaccharide metabolic process GO:0009311 8.62 MAN1B1 ST3GAL3

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
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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