Autosomal Recessive Non-Syndromic Intellectual Disability disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: ATS204 MIFTS: 31	Autosomal Recessive Non-Syndromic Intellectual Disability Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Related diseases Publications Pathways Expand all tables

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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 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:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

Orphanet: ⁶⁰

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0060308

KEGG ³⁸ H00768

Orphanet ⁶⁰ ORPHA88616

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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

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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
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:

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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

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Drugs & Therapeutics for Autosomal Recessive Non-Syndromic Intellectual Disability

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Non-Syndromic Intellectual Disability

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Genetic Tests for Autosomal Recessive Non-Syndromic Intellectual Disability

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Anatomical Context for Autosomal Recessive Non-Syndromic Intellectual Disability

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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 )	Afroze B....Chaudhry B.	2013
2	Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel. ( 21643797 )	Rehman S.u....Hansen L.	2011
3	Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family. ( 20943778 )	Morava E....Wevers R.A.	2011
4	Non-syndromic autosomal recessive mental retardation in Tunisian families : exclusion of GRIK2 and TUSC3 genes. ( 21557188 )	Mhamdi O....Chaabouni Bouhamed H.	2011
5	A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family. ( 21739581 )	Garshasbi M....Kuss A.W.	2011
6	Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. ( 21063731 )	Kuss A.W....Najmabadi H.	2011
7	Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan. ( 20345473 )	Rafiq M.A....Scherer S.W.	2010
8	Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. ( 20004765 )	Mir A....Vincent J.B.	2009
9	Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation. ( 20004764 )	Philippe O....Colleaux L.	2009
10	Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. ( 19068953 )	Noor A....Ayub M.	2008
11	CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. ( 18387594 )	Noor A....Ayub M.	2008
12	A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. ( 18452889 )	Garshasbi M....Kuss A.W.	2008
13	A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. ( 17847003 )	Motazacker M.M....Kuss A.W.	2007
14	Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome. ( 17618476 )	Basel-Vanagaite L...Straussberg R	2007
15	SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. ( 16311745 )	Garshasbi M....Najmabadi H.	2006
16	An autosomal recessive mental retardation syndrome with hepatic fibrosis and renal cysts. ( 3085498 )	Thompson E...Baraitser M	1986
17	Two "new" autosomal recessive mental retardation syndromes observed among the Amish. ( 142529 )	Gale AN...McKusick VA	1977

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Genes for Autosomal Recessive Non-Syndromic Intellectual Disability

Genes related to Autosomal Recessive Non-Syndromic Intellectual Disability (51 elite genes):

(show top 50) (show all 62)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	CC2D1A	Coiled-Coil And C2 Domain Containing 1A	Protein Coding	775.52	Pathogenic ⁶ Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
2	LHFPL5	LHFPL Tetraspan Subfamily Member 5	Protein Coding	417.81	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
3	EEF1D	Eukaryotic Translation Elongation Factor 1 Delta	Protein Coding	400	Pathogenic ⁶
4	PRSS12	Serine Protease 12	Protein Coding	368.22	Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵
5	CRBN	Cereblon	Protein Coding	367.88	Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵
6	TUSC3	Tumor Suppressor Candidate 3	Protein Coding	367.78	Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵
7	TRAPPC9	Trafficking Protein Particle Complex 9	Protein Coding	367.41	Causative germline mutation (loss of function) ⁶⁰ DISEASES inferred ¹⁵
8	GRIK2	Glutamate Ionotropic Receptor Kainate Type Subunit 2	Protein Coding	366.68	Causative germline mutation (loss of function) ⁶⁰ DISEASES inferred ¹⁵
9	TECR	Trans-2,3-Enoyl-CoA Reductase	Protein Coding	365.45	Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵
10	ST3GAL3	ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 3	Protein Coding	354.16	Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵
11	MAN1B1	Mannosidase Alpha Class 1B Member 1	Protein Coding	354.14	Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵
12	MED23	Mediator Complex Subunit 23	Protein Coding	354.03	Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵
13	NSUN2	NOP2/Sun RNA Methyltransferase 2	Protein Coding	354	Causative germline mutation ⁶⁰ DISEASES inferred ¹⁵
14	LMAN2L	Lectin, Mannose Binding 2 Like	Protein Coding	350	Causative germline mutation ⁶⁰
15	SLC45A1	Solute Carrier Family 45 Member 1	Protein Coding	350	Causative germline mutation ⁶⁰
16	TNIK	TRAF2 And NCK Interacting Kinase	Protein Coding	350	Causative germline mutation (loss of function) ⁶⁰
17	PIGC	Phosphatidylinositol Glycan Anchor Biosynthesis Class C	Protein Coding	350	Causative germline mutation ⁶⁰
18	HNMT	Histamine N-Methyltransferase	Protein Coding	350	Causative germline mutation ⁶⁰
19	FRRS1L	Ferric Chelate Reductase 1 Like	Protein Coding	350	Causative germline mutation ⁶⁰
20	MBOAT7	Membrane Bound O-Acyltransferase Domain Containing 7	Protein Coding	350	Causative germline mutation (loss of function) ⁶⁰
21	EZR	Ezrin	Protein Coding	350	Causative germline mutation (loss of function) ⁶⁰
22	CLIP1	CAP-Gly Domain Containing Linker Protein 1	Protein Coding	350	Causative germline mutation (loss of function) ⁶⁰
23	EDC3	Enhancer Of MRNA Decapping 3	Protein Coding	350	Causative germline mutation ⁶⁰
24	FMN2	Formin 2	Protein Coding	350	Causative germline mutation ⁶⁰
25	NDST1	N-Deacetylase And N-Sulfotransferase 1	Protein Coding	350	Causative germline mutation ⁶⁰
26	FBXO31	F-Box Protein 31	Protein Coding	350	Causative germline mutation (loss of function) ⁶⁰
27	METTL23	Methyltransferase Like 23	Protein Coding	350	Causative germline mutation ⁶⁰
28	PGAP1	Post-GPI Attachment To Proteins 1	Protein Coding	350	Causative germline mutation (loss of function) ⁶⁰
29	LINS1	Lines Homolog 1	Protein Coding	350	Causative germline mutation ⁶⁰
30	ZC3H14	Zinc Finger CCCH-Type Containing 14	Protein Coding	350	Causative germline mutation ⁶⁰
31	CRADD	CASP2 And RIPK1 Domain Containing Adaptor With Death Domain	Protein Coding	350	Causative germline mutation ⁶⁰
32	WASHC4	WASH Complex Subunit 4	Protein Coding	350	Causative germline mutation ⁶⁰
33	MED13L	Mediator Complex Subunit 13 Like	Protein Coding	350	Causative germline mutation ⁶⁰
34	AIMP1	Aminoacyl TRNA Synthetase Complex Interacting Multifunctional Protein 1	Protein Coding	350	Causative germline mutation (loss of function) ⁶⁰
35	B3GALNT2	Beta-1,3-N-Acetylgalactosaminyltransferase 2	Protein Coding	350	Causative germline mutation ⁶⁰
36	DCPS	Decapping Enzyme, Scavenger	Protein Coding	350	Causative germline mutation ⁶⁰
37	C12orf4	Chromosome 12 Open Reading Frame 4	Protein Coding	350	Causative germline mutation ⁶⁰
38	MED25	Mediator Complex Subunit 25	Protein Coding	350	Causative germline mutation ⁶⁰
39	SARS	Seryl-TRNA Synthetase	Protein Coding	350	Causative germline mutation ⁶⁰
40	WARS2	Tryptophanyl TRNA Synthetase 2, Mitochondrial	Protein Coding	350	Causative germline mutation ⁶⁰
41	MRT31	Mental Retardation, Autosomal Recessive 31	Genetic Locus	50	MalaCards inferred ⁴²
42	MRT29	Mental Retardation, Autosomal Recessive 29	Genetic Locus	50	MalaCards inferred ⁴²
43	MRT33	Mental Retardation, Autosomal Recessive 33	Genetic Locus	50	MalaCards inferred ⁴²
44	MRT30	Mental Retardation, Autosomal Recessive 30	Genetic Locus	50	MalaCards inferred ⁴²
45	MRT19	Mental Retardation, Non-Syndromic, Autosomal Recessive, 19	Genetic Locus	50	MalaCards inferred ⁴²
46	MRT23	Mental Retardation, Non-Syndromic, Autosomal Recessive, 23	Genetic Locus	50	MalaCards inferred ⁴²
47	MRT24	Mental Retardation, Non-Syndromic, Autosomal Recessive, 24	Genetic Locus	50	MalaCards inferred ⁴²
48	MRT25	Mental Retardation, Non-Syndromic, Autosomal Recessive, 25	Genetic Locus	50	MalaCards inferred ⁴²
49	MRT28	Mental Retardation, Non-Syndromic, Autosomal Recessive, 28	Genetic Locus	50	MalaCards inferred ⁴²
50	MRT35	Mental Retardation, Autosomal Recessive 35	Genetic Locus	50	MalaCards inferred ⁴²

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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

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Expression for Autosomal Recessive Non-Syndromic Intellectual Disability

Search GEO for disease gene expression data for Autosomal Recessive Non-Syndromic Intellectual Disability.

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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	Transport to the Golgi and subsequent modification ⁶⁷ Show member pathways Asparagine N-linked glycosylation ⁶⁷ Cargo concentration in the ER ⁶⁷ COPII (Coat Protein 2) Mediated Vesicle Transport ⁶⁷ COPI-mediated anterograde transport ⁶⁷ ER to Golgi Anterograde Transport ⁶⁷ N-glycan trimming and elongation in the cis-Golgi ⁶⁷ Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc2 ⁶⁷	11.91	LMAN2L MAN1B1 ST3GAL3 TRAPPC9 TUSC3

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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

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Sources for Autosomal Recessive Non-Syndromic Intellectual Disability

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

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¹⁷ EFO

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²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

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³¹ HGMD

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³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia