MCID: ATS523
MIFTS: 26

Autosomal Recessive Intellectual Developmental Disorder

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Aliases & Classifications for Autosomal Recessive Intellectual Developmental Disorder

MalaCards integrated aliases for Autosomal Recessive Intellectual Developmental Disorder:

Name: Autosomal Recessive Intellectual Developmental Disorder 11
Mental Retardation, Autosomal Recessive 5 38
Autosomal Recessive Non-Syndromic Intellectual Disability 14
Autosomal Recessive Non-Syndromic Mental Retardation 11
Autosomal Recessive Mental Retardation 11

Classifications:



External Ids:

Disease Ontology 11 DOID:0060308

Summaries for Autosomal Recessive Intellectual Developmental Disorder

Disease Ontology: 11 A intellectual disability characterized by an autosomal recessive inheritance pattern.

MalaCards based summary: Autosomal Recessive Intellectual Developmental Disorder, also known as mental retardation, autosomal recessive, is related to autosomal recessive non-syndromic intellectual disability and intellectual developmental disorder, autosomal recessive 61. An important gene associated with Autosomal Recessive Intellectual Developmental Disorder is TRAPPC9 (Trafficking Protein Particle Complex Subunit 9). Affiliated tissues include brain.

Related Diseases for Autosomal Recessive Intellectual Developmental Disorder

Diseases in the Autosomal Dominant Intellectual Developmental Disorder family:

Intellectual Developmental Disorder, Autosomal Dominant 1 Intellectual Developmental Disorder, Autosomal Recessive 1
Intellectual Developmental Disorder, Autosomal Recessive 2 Intellectual Developmental Disorder, Autosomal Recessive 3
Intellectual Developmental Disorder, Autosomal Recessive 12 Intellectual Developmental Disorder, Autosomal Recessive 5
Intellectual Developmental Disorder, Autosomal Recessive 6 Intellectual Developmental Disorder, Autosomal Recessive 7
Intellectual Developmental Disorder, Autosomal Recessive 9 Intellectual Developmental Disorder, Autosomal Recessive 10
Intellectual Developmental Disorder, Autosomal Recessive 11 Intellectual Developmental Disorder, Autosomal Recessive 4
Intellectual Developmental Disorder, Autosomal Dominant 22 Intellectual Developmental Disorder, Autosomal Dominant 3
Intellectual Developmental Disorder, Autosomal Dominant 4 Intellectual Developmental Disorder, Autosomal Dominant 5
Intellectual Developmental Disorder, Autosomal Recessive 13 Intellectual Developmental Disorder, Autosomal Recessive 14
Intellectual Developmental Disorder, Autosomal Dominant 7 Intellectual Developmental Disorder, Autosomal Dominant 2
Intellectual Developmental Disorder, Autosomal Recessive 16 Intellectual Developmental Disorder, Autosomal Dominant 10
Intellectual Developmental Disorder, Autosomal Recessive 31 Intellectual Developmental Disorder, Autosomal Recessive 29
Intellectual Developmental Disorder, Autosomal Recessive 27 Intellectual Developmental Disorder, Autosomal Recessive 33
Intellectual Developmental Disorder, Autosomal Recessive 30 Intellectual Developmental Disorder, Autosomal Recessive 19
Intellectual Developmental Disorder, Autosomal Recessive 23 Intellectual Developmental Disorder, Autosomal Recessive 24
Intellectual Developmental Disorder, Autosomal Recessive 25 Intellectual Developmental Disorder, Autosomal Recessive 28
Intellectual Developmental Disorder, Autosomal Dominant 13 Intellectual Developmental Disorder, Autosomal Recessive 35
Intellectual Developmental Disorder, Autosomal Recessive 37 Intellectual Developmental Disorder, Autosomal Dominant 21
Intellectual Developmental Disorder, Autosomal Recessive 38 Intellectual Developmental Disorder, Autosomal Recessive 39
Intellectual Developmental Disorder, Autosomal Recessive 41 Intellectual Developmental Disorder, Autosomal Dominant 23
Intellectual Developmental Disorder, Autosomal Recessive 43 Intellectual Developmental Disorder, Autosomal Dominant 26
Intellectual Developmental Disorder, Autosomal Recessive 44 Intellectual Developmental Disorder, Autosomal Recessive 45
Intellectual Developmental Disorder, Autosomal Dominant 29 Intellectual Developmental Disorder, Autosomal Recessive 46
Intellectual Developmental Disorder, Autosomal Recessive 47 Intellectual Developmental Disorder, Autosomal Recessive 48
Intellectual Developmental Disorder, Autosomal Dominant 33 Intellectual Developmental Disorder, Autosomal Dominant 34
Intellectual Developmental Disorder, Autosomal Dominant 35 Intellectual Developmental Disorder, Autosomal Dominant 36
Intellectual Developmental Disorder, Autosomal Dominant 38 Intellectual Developmental Disorder, Autosomal Recessive 50
Intellectual Developmental Disorder, Autosomal Dominant 39 Intellectual Developmental Disorder, Autosomal Recessive 51
Intellectual Developmental Disorder, Autosomal Recessive 52 Intellectual Developmental Disorder, Autosomal Dominant 41
Intellectual Developmental Disorder, Autosomal Dominant 42 Intellectual Developmental Disorder, Autosomal Dominant 43
Intellectual Developmental Disorder, Autosomal Recessive 54 Intellectual Developmental Disorder, Autosomal Recessive 56
Intellectual Developmental Disorder, Autosomal Recessive 74 Intellectual Developmental Disorder, Autosomal Recessive 57
Intellectual Developmental Disorder, Autosomal Recessive 58 Intellectual Developmental Disorder, Autosomal Recessive 59
Intellectual Developmental Disorder, Autosomal Recessive 60 Intellectual Developmental Disorder, Autosomal Dominant 45
Intellectual Developmental Disorder, Autosomal Dominant 46 Intellectual Developmental Disorder, Autosomal Dominant 47
Intellectual Developmental Disorder, Autosomal Dominant 48 Intellectual Developmental Disorder, Autosomal Recessive 61
Intellectual Developmental Disorder, Autosomal Dominant 51 Intellectual Developmental Disorder, Autosomal Dominant 52
Intellectual Developmental Disorder, Autosomal Dominant 53 Intellectual Developmental Disorder, Autosomal Dominant 54
Intellectual Developmental Disorder, Autosomal Dominant 56 Intellectual Developmental Disorder, Autosomal Dominant 69
Intellectual Developmental Disorder, Autosomal Dominant 61 Intellectual Developmental Disorder, Autosomal Dominant 57
Intellectual Developmental Disorder, Autosomal Recessive 63 Intellectual Developmental Disorder, Autosomal Recessive 64
Intellectual Developmental Disorder, Autosomal Dominant 58 Intellectual Developmental Disorder, Autosomal Recessive 65
Intellectual Developmental Disorder, Autosomal Recessive 66 Intellectual Developmental Disorder, Autosomal Recessive 67
Intellectual Developmental Disorder, Autosomal Recessive 68 Intellectual Developmental Disorder, Autosomal Recessive 69
Intellectual Developmental Disorder, Autosomal Recessive 70 Intellectual Developmental Disorder, Autosomal Recessive 71
Intellectual Developmental Disorder, Autosomal Dominant 59 Intellectual Developmental Disorder, Autosomal Recessive 72
Intellectual Developmental Disorder, Autosomal Dominant 62 Intellectual Developmental Disorder, Autosomal Dominant 64
Intellectual Developmental Disorder, Autosomal Dominant 65 Intellectual Developmental Disorder, Autosomal Recessive 73
Intellectual Developmental Disorder, Autosomal Dominant 66 Intellectual Developmental Disorder, Autosomal Dominant 67
Intellectual Developmental Disorder, Autosomal Recessive 76 Intellectual Developmental Disorder, Autosomal Dominant 68
Intellectual Developmental Disorder, Autosomal Recessive 77 Autosomal Recessive Intellectual Developmental Disorder
Autosomal Dominant Intellectual Developmental Disorder 6 Autosomal Dominant Intellectual Developmental Disorder 8
Autosomal Dominant Intellectual Developmental Disorder 19 Autosomal Dominant Intellectual Developmental Disorder 31
Autosomal Dominant Intellectual Developmental Disorder 40 Autosomal Recessive Intellectual Developmental Disorder 34
Autosomal Recessive Intellectual Developmental Disorder 75

Diseases related to Autosomal Recessive Intellectual Developmental Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 109)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive non-syndromic intellectual disability 32.7 TRAPPC9 LHFPL5 EEF1D CC2D1A
2 intellectual developmental disorder, autosomal recessive 61 11.6
3 intellectual developmental disorder, autosomal recessive 72 11.6
4 intellectual developmental disorder, autosomal recessive 14 11.6
5 intellectual developmental disorder, autosomal recessive 43 11.6
6 intellectual developmental disorder, autosomal recessive 66 11.6
7 intellectual developmental disorder, autosomal recessive 73 11.6
8 intellectual developmental disorder, autosomal recessive 77 11.6
9 intellectual developmental disorder, autosomal recessive 5 11.5
10 intellectual developmental disorder, autosomal recessive 1 11.5
11 intellectual developmental disorder, autosomal recessive 2 11.5
12 intellectual developmental disorder, autosomal recessive 3 11.5
13 intellectual developmental disorder, autosomal recessive 12 11.5
14 intellectual developmental disorder, autosomal recessive 6 11.5
15 intellectual developmental disorder, autosomal recessive 7 11.5
16 intellectual developmental disorder, autosomal recessive 9 11.5
17 intellectual developmental disorder, autosomal recessive 10 11.5
18 intellectual developmental disorder, autosomal recessive 11 11.5
19 intellectual developmental disorder, autosomal recessive 4 11.5
20 intellectual developmental disorder, autosomal recessive 13 11.5
21 intellectual developmental disorder, autosomal recessive 16 11.5
22 intellectual developmental disorder, autosomal recessive 18, with or without epilepsy 11.5
23 intellectual developmental disorder, autosomal recessive 31 11.5
24 intellectual developmental disorder, autosomal recessive 29 11.5
25 intellectual developmental disorder, autosomal recessive 27 11.5
26 intellectual developmental disorder, autosomal recessive 33 11.5
27 intellectual developmental disorder, autosomal recessive 30 11.5
28 intellectual developmental disorder, autosomal recessive 23 11.5
29 intellectual developmental disorder, autosomal recessive 24 11.5
30 intellectual developmental disorder, autosomal recessive 25 11.5
31 intellectual developmental disorder, autosomal recessive 28 11.5
32 intellectual developmental disorder, autosomal recessive 35 11.5
33 intellectual developmental disorder, autosomal recessive 37 11.5
34 intellectual developmental disorder, autosomal recessive 38 11.5
35 intellectual developmental disorder, autosomal recessive 39 11.5
36 neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity 11.5
37 intellectual developmental disorder, autosomal recessive 41 11.5
38 intellectual developmental disorder, autosomal recessive 44 11.5
39 intellectual developmental disorder, autosomal recessive 45 11.5
40 intellectual developmental disorder, autosomal recessive 46 11.5
41 intellectual developmental disorder, autosomal recessive 47 11.5
42 intellectual developmental disorder, autosomal recessive 48 11.5
43 intellectual developmental disorder, autosomal recessive 50 11.5
44 intellectual developmental disorder, autosomal recessive 51 11.5
45 intellectual developmental disorder, autosomal recessive 52 11.5
46 intellectual developmental disorder, autosomal recessive 54 11.5
47 intellectual developmental disorder, autosomal recessive 56 11.5
48 intellectual developmental disorder, autosomal recessive 74 11.5
49 intellectual developmental disorder, autosomal recessive 57 11.5
50 intellectual developmental disorder, autosomal recessive 58 11.5

Graphical network of the top 20 diseases related to Autosomal Recessive Intellectual Developmental Disorder:



Diseases related to Autosomal Recessive Intellectual Developmental Disorder

Symptoms & Phenotypes for Autosomal Recessive Intellectual Developmental Disorder

Drugs & Therapeutics for Autosomal Recessive Intellectual Developmental Disorder

Search Clinical Trials, NIH Clinical Center for Autosomal Recessive Intellectual Developmental Disorder

Genetic Tests for Autosomal Recessive Intellectual Developmental Disorder

Anatomical Context for Autosomal Recessive Intellectual Developmental Disorder

Organs/tissues related to Autosomal Recessive Intellectual Developmental Disorder:

MalaCards : Brain

Publications for Autosomal Recessive Intellectual Developmental Disorder

Articles related to Autosomal Recessive Intellectual Developmental Disorder:

(show top 50) (show all 57)
# Title Authors PMID Year
1
Biallelic loss of EEF1D function links heat shock response pathway to autosomal recessive intellectual disability. 5
30787422 2019
2
CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis. 5
25066123 2014
3
A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability. 62
36348459 2022
4
Generation of a human induced pluripotent stem cell line FMUPDCi001-A from a patient with mental retardation, autosomal recessive 36 (MRT36) carrying the variants c.219dupA and c.587C > T in ADAT3. 62
35405382 2022
5
A Case of Autosomal Recessive Intellectual Developmental Disorder Type 5 Presenting with Epilepsy. 62
36420349 2022
6
A Novel Nonsense FMN2 Mutation in Nonsyndromic Autosomal Recessive Intellectual Disability Syndrome. 62
32162566 2021
7
Phenotype associated with TAF2 biallelic mutations: A clinical description of four individuals and review of the literature. 62
34474177 2021
8
Autozygosity mapping in consanguineous Pakistani families identifies nine non-overlapping novel linkage intervals for autosomal recessive non-syndromic mental retardation (AR-NSMR); shows genetic heterogeneity for AR-NSMR. 62
34580524 2021
9
Adult male patient with severe intellectual disability caused by a homozygous mutation in the HNMT gene. 62
33310825 2020
10
A Novel ELP2 Compound Heterozygous Mutation in a Boy with Severe Intellectual Disability, Spastic Diplegia, Stereotypic Behavior and Review of the Current Literature. 62
33510603 2020
11
Whole-exome sequencing identifies homozygous mutation in TTI2 in a child with primary microcephaly: a case report. 62
32061250 2020
12
[Identification of LINS1 gene variant in a patient with severe mental retardation]. 62
31922598 2020
13
A Novel LINS1 Truncating Mutation in Autosomal Recessive Nonsyndromic Intellectual Disability. 62
32499722 2020
14
Tumor suppressor candidate 3: A novel grading tool and predictor of clinical malignancy in human gliomas. 62
29556302 2018
15
Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly. 62
29031008 2017
16
TUSC3: a novel tumour suppressor gene and its functional implications. 62
28272772 2017
17
A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family. 62
28143899 2017
18
Ohgata, the Single Drosophila Ortholog of Human Cereblon, Regulates Insulin Signaling-dependent Organismic Growth. 62
27702999 2016
19
Neto2 Influences on Kainate Receptor Pharmacology and Function. 62
26928870 2016
20
Cereblon in health and disease. 62
27343012 2016
21
[Inborn error of cholesterol biosynthesis: Smith-Lemli-Opitz syndrome]. 62
26551309 2015
22
Computational analysis of TRAPPC9: candidate gene for autosomal recessive non-syndromic mental retardation. 62
24040793 2014
23
Genetics of non-syndromic autosomal recessive mental retardation. 62
23865144 2013
24
Behavioral characterization of cereblon forebrain-specific conditional null mice: a model for human non-syndromic intellectual disability. 62
21995942 2012
25
A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family. 62
21739581 2011
26
Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel. 62
21643797 2011
27
Non-syndromic autosomal recessive mental retardation in Tunisian families : exclusion of GRIK2 and TUSC3 genes. 62
21557188 2011
28
[Linkage analysis of six Algerian families with autosomal recessive non specific mental retardation]. 62
21557185 2011
29
Homozygosity mapping in outbred families with mental retardation. 62
21248743 2011
30
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. 62
21212097 2011
31
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. 62
21063731 2011
32
Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family. 62
20943778 2011
33
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. 62
20700148 2011
34
What is the functional role of the thalidomide binding protein cereblon? 62
22003441 2011
35
SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system. 62
21035105 2010
36
Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from Pakistan. 62
20345473 2010
37
Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly. 62
19808985 2010
38
Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation. 62
20004764 2009
39
Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. 62
20004765 2009
40
Addendum. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. 62
19068953 2008
41
A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. 62
18452889 2008
42
CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. 62
18387594 2008
43
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. 62
17847003 2007
44
Genetics of autosomal recessive non-syndromic mental retardation: recent advances. 62
17718851 2007
45
Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome. 62
17618476 2007
46
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. 62
17120046 2007
47
A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3. 62
17309643 2007
48
Tequila, a neurotrypsin ortholog, regulates long-term memory formation in Drosophila. 62
16902143 2006
49
The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation. 62
16033914 2006
50
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly. 62
16311745 2006

Variations for Autosomal Recessive Intellectual Developmental Disorder

ClinVar genetic disease variations for Autosomal Recessive Intellectual Developmental Disorder:

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

Expression for Autosomal Recessive Intellectual Developmental Disorder

Search GEO for disease gene expression data for Autosomal Recessive Intellectual Developmental Disorder.

Pathways for Autosomal Recessive Intellectual Developmental Disorder

GO Terms for Autosomal Recessive Intellectual Developmental Disorder

Sources for Autosomal Recessive Intellectual Developmental Disorder

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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