MCID: SYN057
MIFTS: 27

Syndromic Intellectual Disability

Categories: Mental diseases

Aliases & Classifications for Syndromic Intellectual Disability

MalaCards integrated aliases for Syndromic Intellectual Disability:

Name: Syndromic Intellectual Disability 12 29 6 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050888

Summaries for Syndromic Intellectual Disability

Disease Ontology : 12 An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms.

MalaCards based summary : Syndromic Intellectual Disability is related to autosomal dominant non-syndromic intellectual disability and non-syndromic intellectual disability. An important gene associated with Syndromic Intellectual Disability is TAF6 (TATA-Box Binding Protein Associated Factor 6), and among its related pathways/superpathways is Chromatin Regulation / Acetylation. Affiliated tissues include testes, and related phenotypes are Increased Nanog expression and Increased Nanog expression

Related Diseases for Syndromic Intellectual Disability

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

(show top 50) (show all 105)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant non-syndromic intellectual disability 33.6 CHAMP1 DYRK1A TCF4
2 non-syndromic intellectual disability 32.9 DLG3 IQSEC2 TCF4 TRAPPC9
3 autosomal recessive non-syndromic intellectual disability 32.4 MED13L MED25 TRAPPC9
4 alacrima, achalasia, and mental retardation syndrome 31.7 ATRX BRPF1 DYRK1A IQSEC2 MED13L TCF4
5 x-linked non-specific intellectual disability 31.6 CLCN4 DLG3 IQSEC2
6 microcephaly 29.1 ATRX DYRK1A EIF2S3 POGZ TRAPPC9
7 autosomal dominant non-syndromic intellectual disability 1 12.1
8 autosomal dominant non-syndromic intellectual disability 2 12.1
9 autosomal dominant non-syndromic intellectual disability 3 12.1
10 autosomal dominant non-syndromic intellectual disability 4 12.1
11 autosomal dominant non-syndromic intellectual disability 5 12.1
12 autosomal dominant non-syndromic intellectual disability 6 12.1
13 autosomal dominant non-syndromic intellectual disability 8 12.1
14 autosomal dominant non-syndromic intellectual disability 9 12.1
15 bain type of x-linked syndromic intellectual disability 12.1
16 syngap1-related non-syndromic intellectual disability 12.1
17 trichodermal syndrome-intellectual disability syndrome 11.9
18 alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 11.9
19 masa syndrome 11.3
20 mental retardation, autosomal dominant 22 11.3
21 mental retardation, autosomal dominant 7 11.3
22 mental retardation, autosomal dominant 10 11.3
23 mental retardation, autosomal dominant 11 11.3
24 mental retardation, autosomal dominant 13 11.3
25 mental retardation, autosomal dominant 18 11.3
26 mental retardation, autosomal dominant 19 11.3
27 mental retardation, autosomal dominant 21 11.3
28 mental retardation, autosomal dominant 23 11.3
29 mental retardation, autosomal dominant 24 11.3
30 mental retardation, autosomal dominant 26 11.3
31 mental retardation, autosomal dominant 27 11.3
32 mental retardation, autosomal dominant 29 11.3
33 mental retardation, autosomal dominant 30 11.3
34 mental retardation, autosomal dominant 31 11.3
35 mental retardation, autosomal dominant 32 11.3
36 mental retardation, autosomal dominant 33 11.3
37 mental retardation, autosomal dominant 34 11.3
38 mental retardation, autosomal dominant 35 11.3
39 mental retardation, autosomal dominant 36 11.3
40 mental retardation, autosomal dominant 38 11.3
41 mental retardation, autosomal dominant 39 11.3
42 mental retardation, autosomal dominant 40 11.3
43 mental retardation, autosomal dominant 41 11.3
44 mental retardation, autosomal dominant 42 11.3
45 mental retardation, autosomal dominant 43 11.3
46 mental retardation, autosomal dominant 44 11.3
47 skraban-deardorff syndrome 10.9
48 syndromic x-linked intellectual disability 10.9
49 hernández-aguirre negrete syndrome 10.9
50 intellectual disability - hypoplastic corpus callosum - preauricular tag 10.9

Graphical network of the top 20 diseases related to Syndromic Intellectual Disability:



Diseases related to Syndromic Intellectual Disability

Symptoms & Phenotypes for Syndromic Intellectual Disability

GenomeRNAi Phenotypes related to Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 9.23 KDM2B SETD5
2 Increased Nanog expression GR00371-A-2 9.23 SETD5
3 Increased Nanog expression GR00371-A-3 9.23 SETD5
4 Increased Nanog expression GR00371-A-4 9.23 ATRX KDM2B SETD5
5 Increased Nanog expression GR00371-A-5 9.23 SETD5

MGI Mouse Phenotypes related to Syndromic Intellectual Disability:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.23 ATRX BRPF1 DLG3 DYRK1A KDM2B NONO

Drugs & Therapeutics for Syndromic Intellectual Disability

Search Clinical Trials , NIH Clinical Center for Syndromic Intellectual Disability

Genetic Tests for Syndromic Intellectual Disability

Genetic tests related to Syndromic Intellectual Disability:

# Genetic test Affiliating Genes
1 Syndromic Intellectual Disability 29

Anatomical Context for Syndromic Intellectual Disability

MalaCards organs/tissues related to Syndromic Intellectual Disability:

41
Testes

Publications for Syndromic Intellectual Disability

Articles related to Syndromic Intellectual Disability:

(show top 50) (show all 61)
# Title Authors Year
1
Exome sequencing reveals three homozygous missense variants in SNRPA in two sisters with syndromic intellectual disability. ( 29437235 )
2018
2
Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases. ( 29574747 )
2018
3
A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature. ( 29066376 )
2018
4
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. ( 29656859 )
2018
5
ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder. ( 29427787 )
2018
6
Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report. ( 28619046 )
2017
7
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation. ( 27939640 )
2017
8
Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly. ( 29031008 )
2017
9
The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey. ( 28815955 )
2017
10
Novel LINS1 missense mutation in a family with non-syndromic intellectual disability. ( 28181389 )
2017
11
Corrigendum: Novel KCNB1 mutation associated with non-syndromic intellectual disability. ( 28439095 )
2017
12
Gene networks associated with non-syndromic intellectual disability. ( 29199528 )
2017
13
Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1. ( 28600056 )
2017
14
STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. ( 28119487 )
2017
15
Novel KCNB1 mutation associated with non-syndromic intellectual disability. ( 27928161 )
2016
16
Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. ( 27848077 )
2016
17
Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome. ( 27132474 )
2016
18
Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability. ( 27452446 )
2016
19
An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability. ( 27106595 )
2016
20
Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability. ( 26657932 )
2016
21
Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability. ( 26997977 )
2016
22
SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression. ( 27375234 )
2016
23
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability. ( 26751395 )
2016
24
POGZ truncating alleles cause syndromic intellectual disability. ( 26739615 )
2016
25
A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex. ( 27132593 )
2016
26
Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature. ( 26922654 )
2016
27
IQSEC2 and X-linked syndromal intellectual disability. ( 27010919 )
2016
28
De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy? ( 27500536 )
2016
29
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. ( 27550844 )
2016
30
A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum. ( 27108999 )
2016
31
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing. ( 27620904 )
2016
32
Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly. ( 27718516 )
2016
33
Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy. ( 27333055 )
2016
34
A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability. ( 27222290 )
2016
35
Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability. ( 26411299 )
2015
36
A New Role for LOC101928437 in Non-Syndromic Intellectual Disability: Findings from a Family-Based Association Test. ( 26287547 )
2015
37
Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects. ( 25712129 )
2015
38
Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant. ( 25597765 )
2015
39
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. ( 25920557 )
2015
40
Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features. ( 25487640 )
2015
41
Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family. ( 25527630 )
2015
42
RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability. ( 25846674 )
2015
43
Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects. ( 26571461 )
2015
44
Investigation of microdeletions in syndromic intellectual disability by MLPA in Iranian population. ( 24979557 )
2014
45
Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene. ( 24458433 )
2014
46
Interstitial microduplication at 2p11.2 in a patient with syndromic intellectual disability: 30-year follow-up. ( 25295072 )
2014
47
A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability. ( 25281490 )
2014
48
A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach. ( 25028595 )
2014
49
Phosphodiesterase activity is regulated by CC2D1A that is implicated in non-syndromic intellectual disability. ( 23826796 )
2013
50
An Amino Acid Deletion inSZT2 in a Family with Non-Syndromic Intellectual Disability. ( 24324832 )
2013

Variations for Syndromic Intellectual Disability

ClinVar genetic disease variations for Syndromic Intellectual Disability:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TAF6 NM_005641.3(TAF6): c.212T> C (p.Ile71Thr) single nucleotide variant Pathogenic/Likely pathogenic rs374993554 GRCh38 Chromosome 7, 100113899: 100113899
2 TAF6 NM_005641.3(TAF6): c.212T> C (p.Ile71Thr) single nucleotide variant Pathogenic/Likely pathogenic rs374993554 GRCh37 Chromosome 7, 99711522: 99711522
3 PTH2R NM_005048.3(PTH2R): c.473C> T (p.Ser158Phe) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 208442425: 208442425
4 PTH2R NM_005048.3(PTH2R): c.473C> T (p.Ser158Phe) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 209307150: 209307150
5 PHIP NM_017934.6(PHIP): c.3892C> T (p.Arg1298Ter) single nucleotide variant Likely pathogenic rs759380520 GRCh38 Chromosome 6, 78955243: 78955243
6 PHIP NM_017934.6(PHIP): c.3892C> T (p.Arg1298Ter) single nucleotide variant Likely pathogenic rs759380520 GRCh37 Chromosome 6, 79664960: 79664960

Expression for Syndromic Intellectual Disability

Search GEO for disease gene expression data for Syndromic Intellectual Disability.

Pathways for Syndromic Intellectual Disability

Pathways related to Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.33 ATRX KDM2B PRMT7 SETD1B

GO Terms for Syndromic Intellectual Disability

Cellular components related to Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.73 ATRX BRPF1 CHAMP1 DYRK1A KDM2B MED25
2 chromosome GO:0005694 9.55 ATRX CHAMP1 POGZ SETD1B TELO2
3 nucleus GO:0005634 9.53 ATRX BRPF1 CHAMP1 DYRK1A EIF2S3 KDM2B

Biological processes related to Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 9.9 ATRX BRPF1 KDM2B MED13L MED25 NONO
2 transcription, DNA-templated GO:0006351 9.7 ATRX BRPF1 KDM2B MED13L MED25 NONO
3 transcription initiation from RNA polymerase II promoter GO:0006367 9.43 MED25 TAF6 TCF4
4 chromatin organization GO:0006325 9.17 ATRX BRPF1 KDM2B PRMT7 SETD1B SETD5

Sources for Syndromic Intellectual Disability

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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