MCID: NNS045
MIFTS: 28

Non-Specific Syndromic Intellectual Disability

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Non-Specific Syndromic Intellectual Disability

MalaCards integrated aliases for Non-Specific Syndromic Intellectual Disability:

Name: Non-Specific Syndromic Intellectual Disability 58
Complex Neurodevelopmental Disorder 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Orphanet 58 ORPHA528084

Summaries for Non-Specific Syndromic Intellectual Disability

MalaCards based summary : Non-Specific Syndromic Intellectual Disability, also known as complex neurodevelopmental disorder, is related to alacrima, achalasia, and mental retardation syndrome and yuan-harel-lupski syndrome. An important gene associated with Non-Specific Syndromic Intellectual Disability is MYT1L (Myelin Transcription Factor 1 Like). The drugs Methylcobalamin and Hydroxocobalamin have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and cerebellum, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Related Diseases for Non-Specific Syndromic Intellectual Disability

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



Diseases related to Non-Specific Syndromic Intellectual Disability

Symptoms & Phenotypes for Non-Specific Syndromic Intellectual Disability

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

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.62 BCORL1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 9.62 BCORL1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.62 BPTF
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.62 BCORL1 BPTF
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-156 9.62 BCORL1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-160 9.62 BCORL1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-212 9.62 BCORL1 BPTF TCF20
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.62 BCORL1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.62 BCORL1
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 9.62 TCF20
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.62 TCF20
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.62 BCORL1 BPTF
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.62 BCORL1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.62 BCORL1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.62 BCORL1
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.62 BCORL1

Drugs & Therapeutics for Non-Specific Syndromic Intellectual Disability

Drugs for Non-Specific Syndromic Intellectual Disability (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylcobalamin Approved, Investigational Phase 2, Phase 3 13422-55-4
2
Hydroxocobalamin Approved Phase 2, Phase 3 13422-51-0 11953898 15589840
3
Risperidone Approved, Investigational Phase 2, Phase 3 106266-06-2 5073
4
Cyanocobalamin Approved, Nutraceutical Phase 2, Phase 3 68-19-9 44176380
5
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
6
Cobalamin Experimental Phase 2, Phase 3 13408-78-1 6857388
7 Vitamins Phase 2, Phase 3
8 Vitamin B 12 Phase 2, Phase 3
9 Trace Elements Phase 2, Phase 3
10 Vitamin B Complex Phase 2, Phase 3
11 Micronutrients Phase 2, Phase 3
12 Nutrients Phase 2, Phase 3
13 Vitamin B12 Phase 2, Phase 3
14 Vitamin B9 Phase 2, Phase 3
15 Folate Phase 2, Phase 3
16 Hematinics Phase 2, Phase 3
17 Antipsychotic Agents Phase 2, Phase 3
18 Central Nervous System Depressants Phase 2, Phase 3
19 Tranquilizing Agents Phase 2, Phase 3
20 Psychotropic Drugs Phase 2, Phase 3
21 Serotonin Agents Phase 2, Phase 3
22 Dopamine Antagonists Phase 2, Phase 3
23 Serotonin Antagonists Phase 2, Phase 3
24
Serotonin Investigational, Nutraceutical Phase 2, Phase 3 50-67-9 5202
25
Dopamine Approved Early Phase 1 51-61-6, 62-31-7 681
26
Memantine Approved, Investigational Early Phase 1 19982-08-2 4054
27 Neurotransmitter Agents Early Phase 1
28 Dopamine Agents Early Phase 1
29 Antiparkinson Agents Early Phase 1
30 Excitatory Amino Acid Antagonists Early Phase 1
31 Excitatory Amino Acids Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Double Blind Placebo Controlled Trial of Methyl B12 on Behavioral and Metabolic Measures in Children With Autism Completed NCT01039792 Phase 2, Phase 3 Methyl B12
2 Double-Blind Placebo Controlled, Cross-over Trial of Subcutaneous B12 on Behavioral and Metabolic Measures in Children With Autism. Completed NCT00273650 Phase 2, Phase 3 methylcobalamin
3 Pharmacogenomics in Autism Treatment Completed NCT00584701 Phase 2, Phase 3 Risperidone
4 Effects of Transcranial Direct Current Stimulation (tDCS) on Obsessive Compulsive Behavior and Depressive Symptoms on Individuals With Prader-Willi Syndrome Unknown status NCT03324906
5 Predicting Treatment Response to Memantine in Autism Spectrum Disorder Using MR Spectroscopy Recruiting NCT02811627 Early Phase 1 Memantine
6 Prevalence of Tics in Childern With Acute Deficit Hyper Activity Syndrom Not yet recruiting NCT03817710

Search NIH Clinical Center for Non-Specific Syndromic Intellectual Disability

Genetic Tests for Non-Specific Syndromic Intellectual Disability

Anatomical Context for Non-Specific Syndromic Intellectual Disability

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

40
Brain, Cortex, Cerebellum, Skin, Testes, Monocytes, T Cells

Publications for Non-Specific Syndromic Intellectual Disability

Articles related to Non-Specific Syndromic Intellectual Disability:

(show top 50) (show all 169)
# Title Authors PMID Year
1
Exome sequencing identifies de novo splicing variant in XRCC6 in sporadic case of autism. 61
31827253 2020
2
Oxiracetam and Zinc Ameliorates Autism-Like Symptoms in Propionic Acid Model of Rats. 61
32026359 2020
3
Dietary Phytochemicals as Neurotherapeutics for Autism Spectrum Disorder: Plausible Mechanism and Evidence. 61
32006377 2020
4
A study of voice and non-voice processing in Prader-Willi syndrome. 61
31959191 2020
5
Transcriptome analysis of fibroblasts from schizophrenia patients reveals differential expression of schizophrenia-related genes. 61
31959813 2020
6
Overview and Introduction to Autism Spectrum Disorder (ASD). 61
32006355 2020
7
Natural Products and Their Therapeutic Effect on Autism Spectrum Disorder. 61
32006376 2020
8
Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells. 61
32012656 2020
9
Differential regulation of Nrf2 is linked to elevated inflammation and nitrative stress in monocytes of children with autism. 61
31884317 2019
10
Effects of repetitive transcranial magnetic stimulation on children with low-function autism. 61
31228356 2019
11
Mullerian inhibiting substance, sex hormone binding globulin and sex hormone levels in stimulant-naïve, first-diagnosed prepubertal boys with attention-deficit/hyperactivity disorder: comparison with matched healthy controls as well as before and after oros-methylpenidate treatment. 61
31339400 2019
12
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. 61
31036918 2019
13
Gene-based analysis of ADHD using PASCAL: a biological insight into the novel associated genes. 61
31651322 2019
14
The Stat3 inhibitor, S3I-201, downregulates lymphocyte activation markers, chemokine receptors, and inflammatory cytokines in the BTBR T+ Itpr3tf/J mouse model of autism. 61
31299319 2019
15
The Global Prader-Willi Syndrome Registry: Development, Launch, and Early Demographics. 61
31540108 2019
16
Role of the endocannabinoid system in neurological disorders. 61
30858029 2019
17
FOXG1 Regulates PRKAR2B Transcriptionally and Posttranscriptionally via miR200 in the Adult Hippocampus. 61
30539330 2019
18
Genetic association of DNMT variants can play a critical role in defining the methylation patterns in autism. 61
30786140 2019
19
An Autism-Related, Nonsense Foxp1 Mutant Induces Autophagy and Delays Radial Migration of the Cortical Neurons. 61
30124790 2019
20
Replication of previous GWAS hits suggests the association between rs4307059 near MSNP1AS and autism in a Chinese Han population. 61
30610940 2019
21
Family-based association study of ZNF804A polymorphisms and autism in a Han Chinese population. 61
31122238 2019
22
Transient increased thalamic-sensory connectivity and decreased whole-brain dynamism in autism. 61
29883735 2019
23
Guideline Development for Technological Interventions for Children and Young People to Self-Manage Attention Deficit Hyperactivity Disorder: Realist Evaluation. 61
30942692 2019
24
Prevalence and Treatment Patterns of Autism Spectrum Disorder in the United States, 2016. 61
30508021 2019
25
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP. 61
29724491 2019
26
Behavioral profiles in Rett syndrome: Data from the natural history study. 61
30217666 2019
27
Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene. 61
30664616 2019
28
Genome-Wide DNA Methylation Analysis Reveals Epigenetic Pattern of SH2B1 in Chinese Monozygotic Twins Discordant for Autism Spectrum Disorder. 61
31379474 2019
29
Larval zebrafish model for studying the effects of valproic acid on neurodevelopment: An approach towards modeling autism. 61
30500431 2019
30
Melanotan-II reverses autistic features in a maternal immune activation mouse model of autism. 61
30629642 2019
31
A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture? 61
30793011 2019
32
Social stigma and self-perception in adolescents with tourette syndrome. 61
31354374 2019
33
Estimates of the prevalence of speech and motor speech disorders in persons with complex neurodevelopmental disorders. 61
31221012 2019
34
Association of Maternal Insecticide Levels With Autism in Offspring From a National Birth Cohort. 61
30111184 2018
35
Clinical and genetic Rett syndrome variants are defined by stable electrophysiological profiles. 61
30340473 2018
36
Maternal Exposures Associated with Autism Spectrum Disorder in Jamaican Children. 61
29549549 2018
37
Quantitative proteomics reveals neuronal ubiquitination of Rngo/Ddi1 and several proteasomal subunits by Ube3a, accounting for the complexity of Angelman syndrome. 61
29788202 2018
38
[CHILDREN WITH ATTENTION DEFICIT HYPERACTIVITY DISORDER (ADHD): CLINICAL ACTIVITY IN ISRAEL]. 61
29688639 2018
39
Anomalous network architecture of the resting brain in children who stutter. 61
28214015 2018
40
Association of rare missense variants in the second intracellular loop of NaV1.7 sodium channels with familial autism. 61
27956748 2018
41
Social behavior, neuroimmune markers and glutamic acid decarboxylase levels in a rat model of valproic acid-induced autism. 61
30404997 2018
42
AutismKB 2.0: a knowledgebase for the genetic evidence of autism spectrum disorder. 61
30339214 2018
43
Immunological Dysfunction in Autism Spectrum Disorder: A Potential Target for Therapy. 61
30184549 2018
44
hsa-let-7c miRNA Regulates Synaptic and Neuronal Function in Human Neurons. 61
30065644 2018
45
Zebrafish models of autism spectrum disorder. 61
28163161 2018
46
Translating genetic and preclinical findings into autism therapies. 61
29398929 2017
47
Transcriptional profiling of SHR/NCrl prefrontal cortex shows hyperactivity-associated genes responsive to amphetamine challenge. 61
28422445 2017
48
Long-term outcome of autistic spectrum disorder: a retrospective case study in a southern italian region. 61
28931434 2017
49
Idiopathic Autism: Cellular and Molecular Phenotypes in Pluripotent Stem Cell-Derived Neurons. 61
27356918 2017
50
Adenosine A2A receptor modulates neuroimmune function through Th17/retinoid-related orphan receptor gamma t (RORγt) signaling in a BTBR T+ Itpr3tf/J mouse model of autism. 61
28438638 2017

Variations for Non-Specific Syndromic Intellectual Disability

Expression for Non-Specific Syndromic Intellectual Disability

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

Pathways for Non-Specific Syndromic Intellectual Disability

GO Terms for Non-Specific Syndromic Intellectual Disability

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

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.28 ZMIZ1 TRMT1 TCF20 RLIM PSMD12 KMT2E
2 SWI/SNF complex GO:0016514 9.16 ACTL6B ACTL6A
3 NuA4 histone acetyltransferase complex GO:0035267 8.96 ACTL6B ACTL6A

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

# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 9.55 ZMIZ1 MYT1L BPTF ACTL6B ACTL6A
2 ATP-dependent chromatin remodeling GO:0043044 9.37 ACTL6B ACTL6A
3 spinal cord development GO:0021510 9.32 ACTL6B ACTL6A
4 histone H4 acetylation GO:0043967 9.26 ACTL6B ACTL6A
5 chromatin remodeling GO:0006338 9.13 BPTF ACTL6B ACTL6A
6 chromatin organization GO:0006325 9.02 KMT2E BPTF BCORL1 ACTL6B ACTL6A

Sources for Non-Specific Syndromic Intellectual Disability

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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