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

MCID: ATS204 MIFTS: 28	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 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:

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

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0060308

Orphanet ⁵⁹ ORPHA88616

KEGG ³⁷ H00768

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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 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

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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
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 all 13)

#	Related Disease	Score	Top Affiliating Genes
1	hyperphosphatasia with mental retardation syndrome 3	11.3
2	mental retardation, autosomal recessive 61	11.2
3	kahrizi syndrome	11.1
4	acrocallosal syndrome	11.0
5	retinitis pigmentosa	10.2
6	leber congenital amaurosis 4	10.2
7	retinitis	10.2
8	non-syndromic intellectual disability	10.1	CC2D1A PRSS12 TRAPPC9
9	strabismus	10.0
10	mental retardation, anterior maxillary protrusion, and strabismus	10.0
11	hypophosphatemia	10.0
12	microcephaly	10.0
13	ankylosis	10.0

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:

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

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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 )		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 )		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 )	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 )		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 )		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 (50 elite genes):

(show top 50) (show all 61)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	CC2D1A	Coiled-Coil And C2 Domain Containing 1A	Protein Coding	775.56	Pathogenic ⁶ Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
2	LHFPL5	LHFPL Tetraspan Subfamily Member 5	Protein Coding	400	Pathogenic ⁶
3	PRSS12	Serine Protease 12	Protein Coding	368.22	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵
4	CRBN	Cereblon	Protein Coding	367.9	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵
5	TUSC3	Tumor Suppressor Candidate 3	Protein Coding	367.74	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵
6	TRAPPC9	Trafficking Protein Particle Complex 9	Protein Coding	367.4	Causative germline mutation (loss of function) ⁵⁹ DISEASES inferred ¹⁵
7	GRIK2	Glutamate Ionotropic Receptor Kainate Type Subunit 2	Protein Coding	365.71	Causative germline mutation (loss of function) ⁵⁹ DISEASES inferred ¹⁵
8	TECR	Trans-2,3-Enoyl-CoA Reductase	Protein Coding	365.45	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵
9	ST3GAL3	ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 3	Protein Coding	364.5	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵
10	MAN1B1	Mannosidase Alpha Class 1B Member 1	Protein Coding	354.16	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵
11	MED23	Mediator Complex Subunit 23	Protein Coding	354.05	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵
12	NSUN2	NOP2/Sun RNA Methyltransferase Family Member 2	Protein Coding	354.04	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵
13	MBOAT7	Membrane Bound O-Acyltransferase Domain Containing 7	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
14	FRRS1L	Ferric Chelate Reductase 1 Like	Protein Coding	350	Causative germline mutation ⁵⁹
15	SLC45A1	Solute Carrier Family 45 Member 1	Protein Coding	350	Causative germline mutation ⁵⁹
16	HNMT	Histamine N-Methyltransferase	Protein Coding	350	Causative germline mutation ⁵⁹
17	PIGC	Phosphatidylinositol Glycan Anchor Biosynthesis Class C	Protein Coding	350	Causative germline mutation ⁵⁹
18	TNIK	TRAF2 And NCK Interacting Kinase	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
19	LMAN2L	Lectin, Mannose Binding 2 Like	Protein Coding	350	Causative germline mutation ⁵⁹
20	C12orf4	Chromosome 12 Open Reading Frame 4	Protein Coding	350	Causative germline mutation ⁵⁹
21	EZR	Ezrin	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
22	FBXO31	F-Box Protein 31	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
23	EDC3	Enhancer Of MRNA Decapping 3	Protein Coding	350	Causative germline mutation ⁵⁹
24	FMN2	Formin 2	Protein Coding	350	Causative germline mutation ⁵⁹
25	NDST1	N-Deacetylase And N-Sulfotransferase 1	Protein Coding	350	Causative germline mutation ⁵⁹
26	CLIP1	CAP-Gly Domain Containing Linker Protein 1	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
27	METTL23	Methyltransferase Like 23	Protein Coding	350	Causative germline mutation ⁵⁹
28	PGAP1	Post-GPI Attachment To Proteins 1	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
29	LINS1	Lines Homolog 1	Protein Coding	350	Causative germline mutation ⁵⁹
30	ZC3H14	Zinc Finger CCCH-Type Containing 14	Protein Coding	350	Causative germline mutation ⁵⁹
31	CRADD	CASP2 And RIPK1 Domain Containing Adaptor With Death Domain	Protein Coding	350	Causative germline mutation ⁵⁹
32	WASHC4	WASH Complex Subunit 4	Protein Coding	350	Causative germline mutation ⁵⁹
33	MED13L	Mediator Complex Subunit 13 Like	Protein Coding	350	Causative germline mutation ⁵⁹
34	AIMP1	Aminoacyl TRNA Synthetase Complex Interacting Multifunctional Protein 1	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
35	B3GALNT2	Beta-1,3-N-Acetylgalactosaminyltransferase 2	Protein Coding	350	Causative germline mutation ⁵⁹
36	DCPS	Decapping Enzyme, Scavenger	Protein Coding	350	Causative germline mutation ⁵⁹
37	SARS	Seryl-TRNA Synthetase	Protein Coding	350	Causative germline mutation ⁵⁹
38	MED25	Mediator Complex Subunit 25	Protein Coding	350	Causative germline mutation ⁵⁹
39	WARS2	Tryptophanyl TRNA Synthetase 2, Mitochondrial	Protein Coding	350	Causative germline mutation ⁵⁹
40	MRT35	Mental Retardation, Autosomal Recessive 35	Genetic Locus	50	MalaCards inferred ⁴¹
41	MRT31	Mental Retardation, Autosomal Recessive 31	Genetic Locus	50	MalaCards inferred ⁴¹
42	MRT29	Mental Retardation, Autosomal Recessive 29	Genetic Locus	50	MalaCards inferred ⁴¹
43	MRT33	Mental Retardation, Autosomal Recessive 33	Genetic Locus	50	MalaCards inferred ⁴¹
44	MRT30	Mental Retardation, Autosomal Recessive 30	Genetic Locus	50	MalaCards inferred ⁴¹
45	MRT19	Mental Retardation, Non-Syndromic, Autosomal Recessive, 19	Genetic Locus	50	MalaCards inferred ⁴¹
46	MRT23	Mental Retardation, Non-Syndromic, Autosomal Recessive, 23	Genetic Locus	50	MalaCards inferred ⁴¹
47	MRT24	Mental Retardation, Non-Syndromic, Autosomal Recessive, 24	Genetic Locus	50	MalaCards inferred ⁴¹
48	MRT25	Mental Retardation, Non-Syndromic, Autosomal Recessive, 25	Genetic Locus	50	MalaCards inferred ⁴¹
49	MRT28	Mental Retardation, Non-Syndromic, Autosomal Recessive, 28	Genetic Locus	50	MalaCards inferred ⁴¹
50	MRT16	Mental Retardation, Autosomal Recessive 16	Genetic Locus	50	MalaCards inferred ⁴¹

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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		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

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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 ⁶⁶ Show member pathways Asparagine N-linked glycosylation ⁶⁶ Cargo concentration in the ER ⁶⁶ COPII (Coat Protein 2) Mediated Vesicle Transport ⁶⁶ COPI-mediated anterograde transport ⁶⁶ ER to Golgi Anterograde Transport ⁶⁶ N-glycan trimming and elongation in the cis-Golgi ⁶⁶ Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc2 ⁶⁶	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	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

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Sources for Autosomal Recessive Non-Syndromic Intellectual Disability

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia