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

MCID: ATS204 MIFTS: 44	Autosomal Recessive Non-Syndromic Intellectual Disability Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes 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 ⁵⁸ ²⁹ ⁶ ¹⁵

Autosomal Recessive Mental Retardation ¹² ³⁶

Autosomal Recessive Non-Syndromic Mental Retardation ¹²

Mental Retardation, Autosomal Recessive ³⁹

Ar-Nsid ⁵⁸

Ns-Arid ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

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: ⁵⁸

Rare neurological diseases

External Ids:

Disease Ontology ¹² DOID:0060308

KEGG ³⁶ H00768

Orphanet ⁵⁸ ORPHA88616

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Summaries for Autosomal Recessive Non-Syndromic Intellectual Disability

KEGG : ³⁶ Mental retardation (MR) is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. Although X-linked MR has been extensively studied, and over 80 causal genes have been cloned, little is known about the genetic basis of autosomal recessive mental retardation (MRT). To date, several genes have been identified. These genes have a variety of functions and participate in multiple biochemical pathways. In addition, there are several known disease loci for which genes have not yet been identified.

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 18. An important gene associated with Autosomal Recessive Non-Syndromic Intellectual Disability is EEF1D (Eukaryotic Translation Elongation Factor 1 Delta), and among its related pathways/superpathways are Various types of N-glycan biosynthesis and Transport to the Golgi and subsequent modification. Affiliated tissues include brain and liver, and related phenotypes are delayed speech and language development and global developmental delay

Disease Ontology : ¹² A non-syndromic intellectual disability characterized by an autosomal recessive inheritance pattern.

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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	Autosomal Dominant Non-Syndromic Intellectual Disability 27
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 100)

#	Related Disease	Score
1	mental retardation, autosomal recessive 2	12.7
2	mental retardation, autosomal recessive 18	12.7
3	mental retardation, autosomal recessive 37	12.7
4	mental retardation, autosomal recessive 36	12.7
5	mental retardation, autosomal recessive 38	12.7
6	mental retardation, autosomal recessive 39	12.7
7	mental retardation, autosomal recessive 40	12.7
8	mental retardation, autosomal recessive 41	12.7
9	mental retardation, autosomal recessive 42	12.7
10	mental retardation, autosomal recessive 43	12.7
11	mental retardation, autosomal recessive 44	12.7
12	mental retardation, autosomal recessive 45	12.7
13	mental retardation, autosomal recessive 46	12.7
14	mental retardation, autosomal recessive 47	12.7
15	mental retardation, autosomal recessive 48	12.6
16	mental retardation, autosomal recessive 49	12.6
17	mental retardation, autosomal recessive 50	12.6
18	mental retardation, autosomal recessive 52	12.6
19	mental retardation, autosomal recessive 53	12.6
20	mental retardation, autosomal recessive 64	12.6
21	mental retardation, autosomal recessive 51	12.6
22	mental retardation, autosomal recessive 54	12.6
23	mental retardation, autosomal recessive 55	12.6
24	mental retardation, autosomal recessive 56	12.6
25	mental retardation, autosomal recessive 57	12.6
26	mental retardation, autosomal recessive 58	12.6
27	mental retardation, autosomal recessive 59	12.6
28	mental retardation, autosomal recessive 60	12.6
29	mental retardation, autosomal recessive 63	12.6
30	mental retardation, autosomal recessive 65	12.6
31	mental retardation, autosomal recessive 66	12.6
32	mental retardation, autosomal recessive 34, with variant lissencephaly	12.6
33	mental retardation, autosomal recessive 30	12.4
34	mental retardation, autosomal recessive 19	12.4
35	mental retardation, autosomal recessive 23	12.4
36	mental retardation, autosomal recessive 24	12.4
37	mental retardation, autosomal recessive 25	12.4
38	mental retardation, autosomal recessive 28	12.4
39	mental retardation, autosomal recessive 35	12.4
40	hyperphosphatasia with mental retardation syndrome 3	11.8
41	cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1	11.5
42	glycosylphosphatidylinositol biosynthesis defect 16	11.5
43	intellectual developmental disorder, autosomal recessive 67	11.4
44	intellectual developmental disorder, autosomal recessive 68	11.4
45	intellectual developmental disorder, autosomal recessive 69	11.4
46	intellectual developmental disorder, autosomal recessive 70	11.4
47	mental retardation, autosomal recessive 61	11.3
48	kahrizi syndrome	11.3
49	cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3	11.3
50	intellectual developmental disorder, autosomal recessive 71	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

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

⁵⁸ ³¹ (show all 38)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	delayed speech and language development ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000750
2	global developmental delay ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001263
3	abnormal facial shape ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001999
4	intellectual disability, moderate ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002342
5	intellectual disability, severe ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0010864
6	generalized hypotonia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001290
7	motor delay ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001270
8	spasticity ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001257
9	sleep disturbance ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002360
10	chorea ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002072
11	dyskinesia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0100660
12	microcephaly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000252
13	stereotypy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000733
14	hyperactivity ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000752
15	nasogastric tube feeding ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0040288
16	dystonia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001332
17	poor speech ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002465
18	generalized-onset seizure ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002197
19	hypsarrhythmia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002521
20	focal-onset seizure ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0007359
21	autistic behavior ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000729
22	short attention span ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000736
23	impulsivity ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0100710
24	absent septum pellucidum ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001331
25	hypoplasia of the corpus callosum ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002079
26	polymicrogyria ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002126
27	cerebral atrophy ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002059
28	cortical dysplasia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002539
29	epileptic spasms ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0011097
30	cerebral visual impairment ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0100704
31	multifocal epileptiform discharges ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0010841
32	large basal ganglia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0007048
33	depressivity ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0000716
34	intellectual disability, mild ⁵⁸ ³¹	very rare (1%)	Very rare (<4-1%)	HP:0001256
35	seizures ⁵⁸		Frequent (79-30%)
36	muscular hypotonia ⁵⁸		Occasional (29-5%)
37	eeg with generalized epileptiform discharges ⁵⁸		Occasional (29-5%)
38	eeg with focal epileptiform discharges ⁵⁸		Occasional (29-5%)

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

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.73	AIMP1 CC2D1A CRBN FMN2 GRIK2 LHFPL5
2	nervous system	MP:0003631	9.36	CC2D1A CRBN GRIK2 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

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

#	Genetic test	Affiliating Genes
1	Autosomal Recessive Non-Syndromic Intellectual Disability ²⁹

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Anatomical Context for Autosomal Recessive Non-Syndromic Intellectual Disability

MalaCards organs/tissues related to Autosomal Recessive Non-Syndromic Intellectual Disability:

⁴⁰

Brain, Liver

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Publications for Autosomal Recessive Non-Syndromic Intellectual Disability

Articles related to Autosomal Recessive Non-Syndromic Intellectual Disability:

(show top 50) (show all 79)

#	Title	Authors	PMID	Year
1	A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family. ⁶¹ ⁶	Sheereen A...Eyaid W	28143899	2017
2	A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family. ⁶¹ ⁶	Garshasbi M...Kuss AW	21739581	2011
3	Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. ⁶¹ ⁶	Kuss AW...Najmabadi H	21063731	2011
4	Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. ⁶¹ ⁶	Mir A...Vincent JB	20004765	2009
5	Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation. ⁶¹ ⁶	Philippe O...Colleaux L	20004764	2009
6	A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. ⁶¹ ⁶	Motazacker MM...Kuss AW	17847003	2007
7	Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. ⁶¹ ⁶	Najmabadi H...Ropers HH	17120046	2007
8	Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. ⁶	Di Donato N...Jinks RN	27773430	2016
9	A null mutation in TNIK defines a novel locus for intellectual disability. ⁶	Anazi S...Alkuraya FS	27106596	2016
10	Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family. ⁶	Al-Amri A...Ali M	27148795	2016
11	Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family. ⁶	Rafiullah R...Berkel S	26566883	2016
12	Cerebral visual impairment and intellectual disability caused by PGAP1 variants. ⁶	Bosch DG...de Vries BB	25804403	2015
13	Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy. ⁶	Williams C...Petrovski S	25823418	2015
14	Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline. ⁶	Granzow M...Moog U	26050939	2015
15	Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability. ⁶	Heidari A...Vincent JB	26206890	2015
16	Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment. ⁶	Ahmed I...Jamra RA	25701870	2015
17	Expanding the spectrum of Grik2 mutations: intellectual disability, behavioural disorder, epilepsy and dystonia. ⁶	Cordoba M...Kauffman MA	25039795	2015
18	Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability. ⁶	Law R...Gleeson JG	25480035	2014
19	NDST1 missense mutations in autosomal recessive intellectual disability. ⁶	Reuter MS...Kahrizi K	25125150	2014
20	Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability. ⁶	Bernkopf M...Duba HC	24626631	2014
21	Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family. ⁶	Mir A...Vincent JB	24623383	2014
22	METTL23, a transcriptional partner of GABPA, is essential for human cognition. ⁶	Reiff RE...Mochida GH	24501276	2014
23	Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy. ⁶	Murakami Y...Jamra RA	24784135	2014
24	Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. ⁶	Novarino G...Gleeson JG	24482476	2014
25	Mutation for nonsyndromic mental retardation in the trans-2-enoyl-CoA reductase TER gene involved in fatty acid elongation impairs the enzyme activity and stability, leading to change in sphingolipid profile. ⁶	Abe K...Kihara A	24220030	2013
26	A mental retardation-linked nonsense mutation in cereblon is rescued by proteasome inhibition. ⁶	Xu G...Jaffrey SR	23983124	2013
27	LINS, a modulator of the WNT signaling pathway, is involved in human cognition. ⁶	Akawi NA...Al-Gazali L	23773660	2013
28	TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype. ⁶	Marangi G...Zollino M	22549410	2013
29	A population-based study of autosomal-recessive disease-causing mutations in a founder population. ⁶	Chong JX...Ober C	22981120	2012
30	Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome. ⁶	Martinez FJ...Gleeson JG	22577224	2012
31	Mutations in NSUN2 cause autosomal-recessive intellectual disability. ⁶	Abbasi-Moheb L...Kuss AW	22541559	2012
32	Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability. ⁶	Khan MA...Vincent JB	22541562	2012
33	Genetic mapping and exome sequencing identify variants associated with five novel diseases. ⁶	Puffenberger EG...Strauss KA	22279524	2012
34	Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. ⁶	Abou Jamra R...Reis A	21629298	2011
35	Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. ⁶	Bjursell MK...Wedell A	21963049	2011
36	ST3GAL3 mutations impair the development of higher cognitive functions. ⁶	Hu H...Kuss AW	21907012	2011
37	Deep sequencing reveals 50 novel genes for recessive cognitive disorders. ⁶	Najmabadi H...Ropers HH	21937992	2011
38	MED23 mutation links intellectual disability to dysregulation of immediate early gene expression. ⁶	Hashimoto S...Colleaux L	21868677	2011
39	Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. ⁶	Rafiq MA...Najmabadi H	21763484	2011
40	Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP. ⁶	Ropers F...Rajab A	21498477	2011
41	Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. ⁶	Caliskan M...Ober C	21212097	2011
42	A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly. ⁶	Mochida GH...Walsh CA	20004763	2009
43	Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. ⁶	Renbaum P...Levy-Lahad E	19646678	2009
44	Dysregulation of large-conductance Ca2+-activated K+ channel expression in nonsyndromal mental retardation due to a cereblon p.R419X mutation. ⁶	Higgins JJ...Rajadhyaksha AM	18414909	2008
45	Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. ⁶	Molinari F...Colleaux L	18455129	2008
46	Consensus statement for standard of care in spinal muscular atrophy. ⁶	Wang CH...Participants of the International Conference on SMA Standard of Care	17761659	2007
47	The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation. ⁶	Basel-Vanagaite L...Shohat M	16033914	2006
48	Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview ⁶	Sparks SE...Krasnewich DM	20301507	2005
49	A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation. ⁶	Higgins JJ...Rooney JP	15557513	2004
50	Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation. ⁶	Molinari F...Colleaux L	12459588	2002

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Genes for Autosomal Recessive Non-Syndromic Intellectual Disability

Genes related to Autosomal Recessive Non-Syndromic Intellectual Disability (53 elite genes):

(show top 50) (show all 157)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	EEF1D	Eukaryotic Translation Elongation Factor 1 Delta	Protein Coding	407.76	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
2	LHFPL5	LHFPL Tetraspan Subfamily Member 5	Protein Coding	407.76	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
3	PRSS12	Serine Protease 12	Protein Coding	358.2	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
4	TUSC3	Tumor Suppressor Candidate 3	Protein Coding	357.95	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
5	CRBN	Cereblon	Protein Coding	357.94	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
6	CC2D1A	Coiled-Coil And C2 Domain Containing 1A	Protein Coding	357.58	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
7	TRAPPC9	Trafficking Protein Particle Complex 9	Protein Coding	357.56	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁵
8	GRIK2	Glutamate Ionotropic Receptor Kainate Type Subunit 2	Protein Coding	357.22	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁵
9	ZC3H14	Zinc Finger CCCH-Type Containing 14	Protein Coding	356.29	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
10	TECR	Trans-2,3-Enoyl-CoA Reductase	Protein Coding	355.45	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
11	NSUN2	NOP2/Sun RNA Methyltransferase 2	Protein Coding	355.29	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
12	PGAP1	Post-GPI Attachment To Proteins Inositol Deacylase 1	Protein Coding	355.24	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁵
13	MED23	Mediator Complex Subunit 23	Protein Coding	355.08	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
14	ST3GAL3	ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 3	Protein Coding	354.88	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
15	FMN2	Formin 2	Protein Coding	354.8	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
16	MAN1B1	Mannosidase Alpha Class 1B Member 1	Protein Coding	354.38	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
17	LMAN2L	Lectin, Mannose Binding 2 Like	Protein Coding	353.96	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
18	MED25	Mediator Complex Subunit 25	Protein Coding	353.95	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
19	MBOAT7	Membrane Bound O-Acyltransferase Domain Containing 7	Protein Coding	353.42	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁵
20	AIMP1	Aminoacyl TRNA Synthetase Complex Interacting Multifunctional Protein 1	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸
21	ALKBH8	AlkB Homolog 8, TRNA Methyltransferase	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸
22	B3GALNT2	Beta-1,3-N-Acetylgalactosaminyltransferase 2	Protein Coding	350	Causative germline mutation ⁵⁸
23	C12orf4	Chromosome 12 Open Reading Frame 4	Protein Coding	350	Causative germline mutation ⁵⁸
24	CLIP1	CAP-Gly Domain Containing Linker Protein 1	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸
25	CRADD	CASP2 And RIPK1 Domain Containing Adaptor With Death Domain	Protein Coding	350	Causative germline mutation ⁵⁸
26	DCPS	Decapping Enzyme, Scavenger	Protein Coding	350	Causative germline mutation ⁵⁸
27	EDC3	Enhancer Of MRNA Decapping 3	Protein Coding	350	Causative germline mutation ⁵⁸
28	EZR	Ezrin	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸
29	FBXO31	F-Box Protein 31	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸
30	FRRS1L	Ferric Chelate Reductase 1 Like	Protein Coding	350	Causative germline mutation ⁵⁸
31	HNMT	Histamine N-Methyltransferase	Protein Coding	350	Causative germline mutation ⁵⁸
32	KDM5B	Lysine Demethylase 5B	Protein Coding	350	Causative germline mutation ⁵⁸
33	LINS1	Lines Homolog 1	Protein Coding	350	Causative germline mutation ⁵⁸
34	METTL23	Methyltransferase Like 23	Protein Coding	350	Causative germline mutation ⁵⁸
35	NDST1	N-Deacetylase And N-Sulfotransferase 1	Protein Coding	350	Causative germline mutation ⁵⁸
36	PIGC	Phosphatidylinositol Glycan Anchor Biosynthesis Class C	Protein Coding	350	Causative germline mutation ⁵⁸
37	RSRC1	Arginine And Serine Rich Coiled-Coil 1	Protein Coding	350	Causative germline mutation ⁵⁸
38	SARS1	Seryl-TRNA Synthetase 1	Protein Coding	350	Causative germline mutation ⁵⁸
39	SLC45A1	Solute Carrier Family 45 Member 1	Protein Coding	350	Causative germline mutation ⁵⁸
40	TNIK	TRAF2 And NCK Interacting Kinase	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸
41	WARS2	Tryptophanyl TRNA Synthetase 2, Mitochondrial	Protein Coding	350	Causative germline mutation ⁵⁸
42	WASHC4	WASH Complex Subunit 4	Protein Coding	350	Causative germline mutation ⁵⁸
43	MRT16	Mental Retardation, Autosomal Recessive 16	Genetic Locus	50	MalaCards inferred ⁴⁰
44	MRT19	Mental Retardation, Non-Syndromic, Autosomal Recessive, 19	Genetic Locus	50	MalaCards inferred ⁴⁰
45	MRT23	Mental Retardation, Non-Syndromic, Autosomal Recessive, 23	Genetic Locus	50	MalaCards inferred ⁴⁰
46	MRT24	Mental Retardation, Non-Syndromic, Autosomal Recessive, 24	Genetic Locus	50	MalaCards inferred ⁴⁰
47	MRT25	Mental Retardation, Non-Syndromic, Autosomal Recessive, 25	Genetic Locus	50	MalaCards inferred ⁴⁰
48	MRT28	Mental Retardation, Non-Syndromic, Autosomal Recessive, 28	Genetic Locus	50	MalaCards inferred ⁴⁰
49	MRT29	Mental Retardation, Autosomal Recessive 29	Genetic Locus	50	MalaCards inferred ⁴⁰
50	MRT30	Mental Retardation, Autosomal Recessive 30	Genetic Locus	50	MalaCards inferred ⁴⁰

Sources

Variations for Autosomal Recessive Non-Syndromic Intellectual Disability

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

⁶ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	LHFPL5	NM_182548.4(LHFPL5):c.575T>C (p.Leu192Pro)	SNV	Pathogenic	375705	rs1554147220	6:35782485-35782485	6:35814708-35814708
2	EEF1D	NM_001960.6(EEF1D):c.-7-2282G>A	SNV	Pathogenic	599374	rs1563978827	8:144671304-144671304	8:143589134-143589134
3	CYHR1	NM_138496.1(CYHR1):c.246+13C>A	SNV	Uncertain significance	599376	rs752345868	8:145689830-145689830	8:144464447-144464447
4	MROH6	NM_001100878.2(MROH6):c.1904A>T (p.Asn635Ile)	SNV	Uncertain significance	599375	rs1173787317	8:144649810-144649810	8:143567640-143567640

Sources

Expression for Autosomal Recessive Non-Syndromic Intellectual Disability

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

Sources

Pathways for Autosomal Recessive Non-Syndromic Intellectual Disability

Pathways related to Autosomal Recessive Non-Syndromic Intellectual Disability according to KEGG:

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#	Name	Kegg Source Accession
1	Various types of N-glycan biosynthesis	hsa00513

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 ⁶⁵ Show member pathways Asparagine N-linked glycosylation ⁶⁵ Cargo concentration in the ER ⁶⁵ COPII (Coat Protein 2) Mediated Vesicle Transport ⁶⁵ COPI-mediated anterograde transport ⁶⁵ ER to Golgi Anterograde Transport ⁶⁵ N-glycan trimming and elongation in the cis-Golgi ⁶⁵ Progressive trimming of alpha-1,2-linked mannose residues from Man9/8/7GlcNAc2 to produce Man5GlcNAc2 ⁶⁵	12.24	TUSC3 TRAPPC9 ST3GAL3 MAN1B1 LMAN2L
2	N-Glycan biosynthesis ³⁶ Show member pathways dolichyl-diphosphooligosaccharide biosynthesis ¹ Synthesis of dolichyl-phosphate mannose ⁶⁵ Various types of N-glycan biosynthesis ³⁶	10.8	TUSC3 ST3GAL3 MAN1B1

Sources

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	9.5	TUSC3 TECR PGAP1 MBOAT7 MAN1B1 LMAN2L
2	endoplasmic reticulum	GO:0005783	9.32	TUSC3 TRAPPC9 TECR PGAP1 MBOAT7 MAN1B1
3	mediator complex	GO:0016592	9.26	MED25 MED23
4	dendrite cytoplasm	GO:0032839	9.16	ZC3H14 GRIK2

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	TUSC3 ST3GAL3 MAN1B1

Sources

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 EFO

¹⁸ ExPASy

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 HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

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 NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia