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

MalaCards based summary: Autosomal Recessive Non-Syndromic Intellectual Disability, also known as ar-nsid, is related to autosomal recessive intellectual developmental disorder and syndromic intellectual disability. An important gene associated with Autosomal Recessive Non-Syndromic Intellectual Disability is CC2D1A (Coiled-Coil And C2 Domain Containing 1A). Related phenotypes are delayed speech and language development and global developmental delay

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Related Diseases for Autosomal Recessive Non-Syndromic Intellectual Disability

Diseases in the Rare Non-Syndromic Intellectual Disability family:

Autosomal Dominant Non-Syndromic Intellectual Disability

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:

#	Related Disease	Score	Top Affiliating Genes
1	autosomal recessive intellectual developmental disorder	32.3	TRAPPC9 LHFPL5 EEF1D CRBN CC2D1A
2	syndromic intellectual disability	10.2
3	microcephaly	10.2
4	non-syndromic x-linked intellectual disability	10.0	FBXO31 DCPS ALKBH8

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Symptoms & Phenotypes for Autosomal Recessive Non-Syndromic Intellectual Disability

Human phenotypes related to Autosomal Recessive Non-Syndromic Intellectual Disability:

³⁰ (show all 34)

#	Description	HPO Frequency	HPO Source Accession
1	delayed speech and language development ³⁰	Hallmark (90%)	HP:0000750
2	global developmental delay ³⁰	Frequent (33%)	HP:0001263
3	abnormal facial shape ³⁰	Frequent (33%)	HP:0001999
4	intellectual disability, severe ³⁰	Frequent (33%)	HP:0010864
5	motor delay ³⁰	Frequent (33%)	HP:0001270
6	intellectual disability, moderate ³⁰	Frequent (33%)	HP:0002342
7	generalized hypotonia ³⁰	Frequent (33%)	HP:0001290
8	spasticity ³⁰	Occasional (7.5%)	HP:0001257
9	sleep disturbance ³⁰	Occasional (7.5%)	HP:0002360
10	chorea ³⁰	Occasional (7.5%)	HP:0002072
11	dyskinesia ³⁰	Occasional (7.5%)	HP:0100660
12	microcephaly ³⁰	Occasional (7.5%)	HP:0000252
13	dystonia ³⁰	Occasional (7.5%)	HP:0001332
14	absent septum pellucidum ³⁰	Occasional (7.5%)	HP:0001331
15	polymicrogyria ³⁰	Occasional (7.5%)	HP:0002126
16	cerebral atrophy ³⁰	Occasional (7.5%)	HP:0002059
17	autistic behavior ³⁰	Occasional (7.5%)	HP:0000729
18	hyperactivity ³⁰	Occasional (7.5%)	HP:0000752
19	focal-onset seizure ³⁰	Occasional (7.5%)	HP:0007359
20	generalized-onset seizure ³⁰	Occasional (7.5%)	HP:0002197
21	hypoplasia of the corpus callosum ³⁰	Occasional (7.5%)	HP:0002079
22	impulsivity ³⁰	Occasional (7.5%)	HP:0100710
23	short attention span ³⁰	Occasional (7.5%)	HP:0000736
24	cerebral visual impairment ³⁰	Occasional (7.5%)	HP:0100704
25	poor speech ³⁰	Occasional (7.5%)	HP:0002465
26	hypsarrhythmia ³⁰	Occasional (7.5%)	HP:0002521
27	multifocal epileptiform discharges ³⁰	Occasional (7.5%)	HP:0010841
28	cortical dysplasia ³⁰	Occasional (7.5%)	HP:0002539
29	epileptic spasm ³⁰	Occasional (7.5%)	HP:0011097
30	nasogastric tube feeding ³⁰	Occasional (7.5%)	HP:0040288
31	large basal ganglia ³⁰	Occasional (7.5%)	HP:0007048
32	motor stereotypy ³⁰	Occasional (7.5%)	HP:0000733
33	depression ³⁰	Very rare (1%)	HP:0000716
34	intellectual disability, mild ³⁰	Very rare (1%)	HP:0001256

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

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	9.77	ABCA2 AIMP1 ALKBH8 C12orf4 CC2D1A CHKA
2	behavior/neurological	MP:0005386	9.4	ABCA2 AIMP1 C12orf4 CC2D1A CRBN EDC3

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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

Genetic tests related to Autosomal Recessive Non-Syndromic Intellectual Disability:

#	Genetic test	Affiliating Genes
1	Autosomal Recessive Non-Syndromic Intellectual Disability ²⁸

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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 15)

#	Title	Authors	PMID	Year
1	Biallelic loss of EEF1D function links heat shock response pathway to autosomal recessive intellectual disability. ⁵	Ugur Iseri SA...Ozbek U	30787422	2019
2	CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis. ⁵	Manzini MC...Walsh CA	25066123	2014
3	A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability. ⁶²	Amin M...Dorboz I	36348459	2022
4	A novel variant of ST3GAL3 causes non-syndromic autosomal recessive intellectual disability in Iranian patients. ⁶²	Farajollahi Z...Garshasbi M	32666583	2020
5	Fine mapping of MRT9 locus through genome wide homozygosity mapping in a consanguineous Pakistani family. ⁶²	Rehman SU...Hussa M	31853126	2019
6	A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family. ⁶²	Sheereen A...Eyaid W	28143899	2017
7	Ohgata, the Single Drosophila Ortholog of Human Cereblon, Regulates Insulin Signaling-dependent Organismic Growth. ⁶²	Wakabayashi S...Hoch M	27702999	2016
8	Multiplex PCR Analysis of 17 (11 Novels) STR Markers Linked to Six Autosomal Recessive Intellectual Disability Genes in Iranian Population. ⁶²	Shirin G...Sirous Z	27012031	2016
9	Examining non-syndromic autosomal recessive intellectual disability (NS-ARID) genes for an enriched association with intelligence differences. ⁶²	Hill WD...Deary IJ	26912939	2016
10	Frequencies of Six (Five Novel) STR Markers Linked to TUSC3 (MRT7) or NSUN2 (MRT5) Genes Used for Homozygosity Mapping of Recessive Intellectual Disability. ⁶²	Ghadami S...Zeinali S	26427135	2015
11	Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers. ⁶²	El Chehadeh S...Thauvin-Robinet C	25626710	2015
12	New kid on the ID block: neural functions of the Nab2/ZC3H14 class of Cys₃His tandem zinc-finger polyadenosine RNA binding proteins. ⁶²	Kelly S...Moberg K	22614829	2012
13	Behavioral characterization of cereblon forebrain-specific conditional null mice: a model for human non-syndromic intellectual disability. ⁶²	Rajadhyaksha AM...Higgins JJ	21995942	2012
14	Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. ⁶²	Abou Jamra R...Reis A	21629298	2011
15	Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. ⁶²	Rafiq MA...Najmabadi H	21763484	2011

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Genes for Autosomal Recessive Non-Syndromic Intellectual Disability

Genes related to Autosomal Recessive Non-Syndromic Intellectual Disability (57 elite genes):

(show top 50) (show all 59)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CC2D1A	Coiled-Coil And C2 Domain Containing 1A	Protein Coding	750	Pathogenic ⁵ Causative germline mutation ⁵⁸	25066123 16033914
2	TRAPPC9	Trafficking Protein Particle Complex Subunit 9	Protein Coding	750	Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁸	20004765 20004763
3	EEF1D	Eukaryotic Translation Elongation Factor 1 Delta	Protein Coding	400	Pathogenic ⁵	30787422
4	LHFPL5	LHFPL Tetraspan Subfamily Member 5	Protein Coding	400	Pathogenic ⁵
5	ALKBH8	AlkB Homolog 8, TRNA Methyltransferase	Protein Coding	358.76	Causative germline mutation (loss of function) ⁵⁸ GeneCards inferred via : Summaries (show sections)	31079898
6	ABCA2	ATP Binding Cassette Subfamily A Member 2	Protein Coding	350	Causative germline mutation ⁵⁸	29302074
7	AIMP1	Aminoacyl TRNA Synthetase Complex Interacting Multifunctional Protein 1	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸	26173967
8	B3GALNT2	Beta-1,3-N-Acetylgalactosaminyltransferase 2	Protein Coding	350	Causative germline mutation ⁵⁸	29273094
9	C12orf4	Chromosome 12 Open Reading Frame 4	Protein Coding	350	Causative germline mutation ⁵⁸	27311568
10	CHKA	Choline Kinase Alpha	Protein Coding	350	Causative germline mutation ⁵⁸	35202461
11	CLIP1	CAP-Gly Domain Containing Linker Protein 1	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸	24569606
12	CRADD	CASP2 And RIPK1 Domain Containing Adaptor With Death Domain	Protein Coding	350	Causative germline mutation ⁵⁸	22279524
13	CRBN	Cereblon	Protein Coding	350	Causative germline mutation ⁵⁸	15557513
14	DCPS	Decapping Enzyme, Scavenger	Protein Coding	350	Causative germline mutation ⁵⁸	25701870
15	EDC3	Enhancer Of MRNA Decapping 3	Protein Coding	350	Causative germline mutation ⁵⁸	25701870
16	EEF1B2	Eukaryotic Translation Elongation Factor 1 Beta 2	Protein Coding	350	Causative germline mutation ⁵⁸	35015920
17	EZR	Ezrin	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸	25504542
18	FBXO31	F-Box Protein 31	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸	24623383
19	FMN2	Formin 2	Protein Coding	350	Causative germline mutation ⁵⁸	25480035
20	FRRS1L	Ferric Chelate Reductase 1 Like	Protein Coding	350	Causative germline mutation ⁵⁸	28675162
21	GEMIN5	Gem Nuclear Organelle Associated Protein 5	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸	33963192
22	GRIA1	Glutamate Ionotropic Receptor AMPA Type Subunit 1	Protein Coding	350	Causative germline mutation ⁵⁸	35675825
23	GRIK2	Glutamate Ionotropic Receptor Kainate Type Subunit 2	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸	17847003
24	GRM7	Glutamate Metabotropic Receptor 7	Protein Coding	350	Causative germline mutation ⁵⁸	27435318
25	HNMT	Histamine N-Methyltransferase	Protein Coding	350	Causative germline mutation ⁵⁸	26206890
26	IMPA1	Inositol Monophosphatase 1	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸	26416544
27	IQSEC1	IQ Motif And Sec7 Domain ArfGEF 1	Protein Coding	350	Causative germline mutation ⁵⁸	31607425
28	KDM5B	Lysine Demethylase 5B	Protein Coding	350	Causative germline mutation ⁵⁸	29276005
29	LINS1	Lines Homolog 1	Protein Coding	350	Causative germline mutation ⁵⁸	23773660
30	LMAN2L	Lectin, Mannose Binding 2 Like	Protein Coding	350	Causative germline mutation ⁵⁸	26566883
31	MAN1B1	Mannosidase Alpha Class 1B Member 1	Protein Coding	350	Causative germline mutation ⁵⁸	21763484
32	MBOAT7	Membrane Bound O-Acyltransferase Domain Containing 7	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸	27616480
33	MED23	Mediator Complex Subunit 23	Protein Coding	350	Causative germline mutation ⁵⁸	21868677
34	MED25	Mediator Complex Subunit 25	Protein Coding	350	Causative germline mutation ⁵⁸	25527630
35	METTL23	Methyltransferase Like 23	Protein Coding	350	Causative germline mutation ⁵⁸	24626631
36	NAA20	N-Alpha-Acetyltransferase 20, NatB Catalytic Subunit	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸	34230638
37	NCDN	Neurochondrin	Protein Coding	350	Causative germline mutation ⁵⁸	33711248
38	NDST1	N-Deacetylase And N-Sulfotransferase 1	Protein Coding	350	Causative germline mutation ⁵⁸	25125150
39	NEMF	Nuclear Export Mediator Factor	Protein Coding	350	Causative germline mutation ⁵⁸	32934225
40	NSUN2	NOP2/Sun RNA Methyltransferase 2	Protein Coding	350	Causative germline mutation ⁵⁸	22541559 22541562
41	PGAP1	Post-GPI Attachment To Proteins Inositol Deacylase 1	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸	24784135
42	PIGC	Phosphatidylinositol Glycan Anchor Biosynthesis Class C	Protein Coding	350	Causative germline mutation ⁵⁸	27694521
43	PRSS12	Serine Protease 12	Protein Coding	350	Causative germline mutation ⁵⁸	12459588
44	RSRC1	Arginine And Serine Rich Coiled-Coil 1	Protein Coding	350	Causative germline mutation ⁵⁸	28640246 29522154
45	SARS1	Seryl-TRNA Synthetase 1	Protein Coding	350	Causative germline mutation ⁵⁸	28236339
46	SLC45A1	Solute Carrier Family 45 Member 1	Protein Coding	350	Causative germline mutation ⁵⁸	28434495
47	ST3GAL3	ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 3	Protein Coding	350	Causative germline mutation ⁵⁸	21907012
48	TECR	Trans-2,3-Enoyl-CoA Reductase	Protein Coding	350	Causative germline mutation ⁵⁸	21212097
49	TNIK	TRAF2 And NCK Interacting Kinase	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸	27106596
50	TPR	Translocated Promoter Region, Nuclear Basket Protein	Protein Coding	350	Causative germline mutation ⁵⁸	34494102

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Variations for Autosomal Recessive Non-Syndromic Intellectual Disability

ClinVar genetic disease variations for Autosomal Recessive Non-Syndromic Intellectual Disability:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	LHFPL5	NM_182548.4(LHFPL5):c.575T>C (p.Leu192Pro)	SNV	Pathogenic	375705	rs1554147220	GRCh37: 6:35782485-35782485 GRCh38: 6:35814708-35814708
2	EEF1D	NM_001130053.5(EEF1D):c.948G>A (p.Trp316Ter)	SNV	Pathogenic	599374	rs1563978827	GRCh37: 8:144671304-144671304 GRCh38: 8:143589134-143589134
3	TRAPPC9	NM_001160372.4(TRAPPC9):c.1994dup (p.Val666fs)	DUP	Pathogenic	1683498		GRCh37: 8:141294107-141294108 GRCh38: 8:140284008-140284009
4	CC2D1A	NM_017721.5(CC2D1A):c.2347C>T (p.Arg783Ter)	SNV	Pathogenic	1699097		GRCh37: 19:14038736-14038736 GRCh38: 19:13927923-13927923
5	ZFTRAF1, LOC84773-CYHR1, TMEM276	NM_032687.4(TMEM276):c.259C>A (p.Arg87Ser)	SNV	Uncertain Significance	599376	rs752345868	GRCh37: 8:145689830-145689830 GRCh38: 8:144464447-144464447
6	MROH6	NM_001100878.2(MROH6):c.1904A>T (p.Asn635Ile)	SNV	Uncertain Significance	599375	rs1173787317	GRCh37: 8:144649810-144649810 GRCh38: 8:143567640-143567640

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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

Cellular components related to Autosomal Recessive Non-Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	eukaryotic translation elongation factor 1 complex	GO:0005853	8.92	EEF1D EEF1B2

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Sources for Autosomal Recessive Non-Syndromic Intellectual Disability

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: ATS204 MIFTS: 29	Autosomal Recessive Non-Syndromic Intellectual Disability Categories: Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Related diseases Publications Symptoms & Phenotypes Expand all tables

Autosomal Recessive Non-Syndromic Intellectual Disability

Aliases & Classifications for Autosomal Recessive Non-Syndromic Intellectual Disability

MalaCards integrated aliases for Autosomal Recessive Non-Syndromic Intellectual Disability:

Characteristics:

Inheritance:

Age Of Onset:

Classifications:

External Ids:

Summaries for Autosomal Recessive Non-Syndromic Intellectual Disability

Related Diseases for Autosomal Recessive Non-Syndromic Intellectual Disability

Diseases in the Rare Non-Syndromic Intellectual Disability family:

Diseases related to Autosomal Recessive Non-Syndromic Intellectual Disability via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Autosomal Recessive Non-Syndromic Intellectual Disability

Human phenotypes related to Autosomal Recessive Non-Syndromic Intellectual Disability:

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

Drugs & Therapeutics for Autosomal Recessive Non-Syndromic Intellectual Disability

Genetic Tests for Autosomal Recessive Non-Syndromic Intellectual Disability

Genetic tests related to 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:

Genes for Autosomal Recessive Non-Syndromic Intellectual Disability

Genes related to Autosomal Recessive Non-Syndromic Intellectual Disability (57 elite genes):

Variations for Autosomal Recessive Non-Syndromic Intellectual Disability

ClinVar genetic disease variations for Autosomal Recessive Non-Syndromic Intellectual Disability:

Expression 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:

Sources for Autosomal Recessive Non-Syndromic Intellectual Disability