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

MCID: ATS204 MIFTS: 23	Autosomal Recessive Non-Syndromic Intellectual Disability Categories: Neuronal diseases, Rare diseases, Mental diseases
Genes Variations Related diseases Publications Download 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 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:

MalaCards categories:
Global: Rare 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

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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 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).

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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:

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Symptoms & Phenotypes for Autosomal Recessive Non-Syndromic Intellectual Disability

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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:

#	Title	Authors	Year
1	Computational Analysis of TRAPPC9: Candidate Gene for Autosomal Recessive Non-Syndromic Mental Retardation. ( 24040793 )	Khattak N.A....Mir A.	2013
2	Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. ( 21212097 )	Caliskan M....Ober C.	2011
3	A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3. ( 17309643 )	Uyguner O....Wollnik B.	2007
4	The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation. ( 16033914 )	Basel-Vanagaite L....Shohat M.	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 )	Basel-Vanagaite L....Shohat M.	2003

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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	775.71	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	368.28	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	CRBN	Cereblon	Protein Coding	368.02	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	TUSC3	Tumor Suppressor Candidate 3	Protein Coding	367.9	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	TRAPPC9	Trafficking Protein Particle Complex 9	Protein Coding	367.49	Causative germline mutation (loss of function) ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	GRIK2	Glutamate Ionotropic Receptor Kainate Type Subunit 2	Protein Coding	365.83	Causative germline mutation (loss of function) ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	TECR	Trans-2,3-Enoyl-CoA Reductase	Protein Coding	365.58	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	ST3GAL3	ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 3	Protein Coding	364.68	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	MAN1B1	Mannosidase Alpha Class 1B Member 1	Protein Coding	354.35	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵
11	MED23	Mediator Complex Subunit 23	Protein Coding	354.17	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵
12	NSUN2	NOP2/Sun RNA Methyltransferase Family Member 2	Protein Coding	354.11	Causative germline mutation ⁵⁹ DISEASES inferred ¹⁵
13	FRRS1L	Ferric Chelate Reductase 1 Like	Protein Coding	350	Causative germline mutation ⁵⁹
14	DCPS	Decapping Enzyme, Scavenger	Protein Coding	350	Causative germline mutation ⁵⁹
15	CRADD	CASP2 And RIPK1 Domain Containing Adaptor With Death Domain	Protein Coding	350	Causative germline mutation ⁵⁹
16	HNMT	Histamine N-Methyltransferase	Protein Coding	350	Causative germline mutation ⁵⁹
17	FMN2	Formin 2	Protein Coding	350	Causative germline mutation ⁵⁹
18	LINS1	Lines Homolog 1	Protein Coding	350	Causative germline mutation ⁵⁹
19	EDC3	Enhancer Of MRNA Decapping 3	Protein Coding	350	Causative germline mutation ⁵⁹
20	CLIP1	CAP-Gly Domain Containing Linker Protein 1	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
21	FBXO31	F-Box Protein 31	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
22	EZR	Ezrin	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
23	MED13L	Mediator Complex Subunit 13 Like	Protein Coding	350	Causative germline mutation ⁵⁹
24	SLC45A1	Solute Carrier Family 45 Member 1	Protein Coding	350	Causative germline mutation ⁵⁹
25	SARS	Seryl-TRNA Synthetase	Protein Coding	350	Causative germline mutation ⁵⁹
26	TNIK	TRAF2 And NCK Interacting Kinase	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
27	WARS2	Tryptophanyl TRNA Synthetase 2, Mitochondrial	Protein Coding	350	Causative germline mutation ⁵⁹
28	ZC3H14	Zinc Finger CCCH-Type Containing 14	Protein Coding	350	Causative germline mutation ⁵⁹
29	WASHC4	WASH Complex Subunit 4	Protein Coding	350	Causative germline mutation ⁵⁹
30	PIGC	Phosphatidylinositol Glycan Anchor Biosynthesis Class C	Protein Coding	350	Causative germline mutation ⁵⁹
31	PGAP1	Post-GPI Attachment To Proteins 1	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
32	C12orf4	Chromosome 12 Open Reading Frame 4	Protein Coding	350	Causative germline mutation ⁵⁹
33	MBOAT7	Membrane Bound O-Acyltransferase Domain Containing 7	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
34	MED25	Mediator Complex Subunit 25	Protein Coding	350	Causative germline mutation ⁵⁹
35	METTL23	Methyltransferase Like 23	Protein Coding	350	Causative germline mutation ⁵⁹
36	NDST1	N-Deacetylase And N-Sulfotransferase 1	Protein Coding	350	Causative germline mutation ⁵⁹
37	LMAN2L	Lectin, Mannose Binding 2 Like	Protein Coding	350	Causative germline mutation ⁵⁹
38	AIMP1	Aminoacyl TRNA Synthetase Complex Interacting Multifunctional Protein 1	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁹
39	B3GALNT2	Beta-1,3-N-Acetylgalactosaminyltransferase 2	Protein Coding	350	Causative germline mutation ⁵⁹
40	MRT24	Mental Retardation, Non-Syndromic, Autosomal Recessive, 24	Genetic Locus	50	MalaCards inferred ⁵⁷
41	MRT23	Mental Retardation, Non-Syndromic, Autosomal Recessive, 23	Genetic Locus	50	MalaCards inferred ⁵⁷
42	MRT19	Mental Retardation, Non-Syndromic, Autosomal Recessive, 19	Genetic Locus	50	MalaCards inferred ⁵⁷
43	MRT16	Mental Retardation, Autosomal Recessive 16	Genetic Locus	50	MalaCards inferred ⁵⁷
44	MRT28	Mental Retardation, Non-Syndromic, Autosomal Recessive, 28	Genetic Locus	50	MalaCards inferred ⁵⁷
45	MRT25	Mental Retardation, Non-Syndromic, Autosomal Recessive, 25	Genetic Locus	50	MalaCards inferred ⁵⁷
46	MRT29	Mental Retardation, Autosomal Recessive 29	Genetic Locus	50	MalaCards inferred ⁵⁷
47	MRT33	Mental Retardation, Autosomal Recessive 33	Genetic Locus	50	MalaCards inferred ⁵⁷
48	MRT35	Mental Retardation, Autosomal Recessive 35	Genetic Locus	50	MalaCards inferred ⁵⁷
49	MRT30	Mental Retardation, Autosomal Recessive 30	Genetic Locus	50	MalaCards inferred ⁵⁷
50	MRT31	Mental Retardation, Autosomal Recessive 31	Genetic Locus	50	MalaCards inferred ⁵⁷

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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

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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

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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

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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