MCID: NNS045
MIFTS: 31

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 yuan-harel-lupski syndrome and spastic paraplegia and psychomotor retardation with or without seizures. An important gene associated with Non-Specific Syndromic Intellectual Disability is BPTF (Bromodomain PHD Finger Transcription Factor). 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 Increased shRNA abundance (Z-score > 2) and Increased 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 25)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.75 BCORL1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.75 BCORL1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-112 9.75 BPTF
4 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.75 BCORL1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.75 BPTF
6 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.75 BCORL1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.75 BPTF
8 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.75 BCORL1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.75 BPTF
10 Increased shRNA abundance (Z-score > 2) GR00366-A-169 9.75 TCF20
11 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.75 TCF20
12 Increased shRNA abundance (Z-score > 2) GR00366-A-180 9.75 BPTF
13 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.75 BPTF
14 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.75 BPTF
15 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.75 BPTF
16 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.75 BCORL1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.75 TCF20
18 Increased shRNA abundance (Z-score > 2) GR00366-A-212 9.75 BCORL1 BPTF TCF20
19 Increased shRNA abundance (Z-score > 2) GR00366-A-216 9.75 BCORL1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-36 9.75 BPTF
21 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.75 BPTF
22 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.75 BPTF
23 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.75 BCORL1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-58 9.75 BCORL1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-8 9.75 TCF20

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 25)
# 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 15589840 11953898
3
Risperidone Approved, Investigational Phase 2, Phase 3 106266-06-2 5073
4
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
5
Cyanocobalamin Approved, Nutraceutical Phase 2, Phase 3 68-19-9 44176380
6
Cobalamin Experimental Phase 2, Phase 3 13408-78-1 6857388
7 Trace Elements Phase 2, Phase 3
8 Vitamins Phase 2, Phase 3
9 Vitamin B Complex Phase 2, Phase 3
10 Vitamin B 12 Phase 2, Phase 3
11 Folate Phase 2, Phase 3
12 Nutrients Phase 2, Phase 3
13 Vitamin B12 Phase 2, Phase 3
14 Micronutrients Phase 2, Phase 3
15 Vitamin B9 Phase 2, Phase 3
16 Dopamine Antagonists Phase 2, Phase 3
17 Psychotropic Drugs Phase 2, Phase 3
18 Antipsychotic Agents Phase 2, Phase 3
19
Serotonin Investigational, Nutraceutical Phase 2, Phase 3 50-67-9 5202
20
Dopamine Approved Early Phase 1 51-61-6, 62-31-7 681
21
Memantine Approved, Investigational Early Phase 1 19982-08-2 4054
22 Dopamine Agents Early Phase 1
23 Neurotransmitter Agents Early Phase 1
24 Excitatory Amino Acid Antagonists Early Phase 1
25 Antiparkinson Agents 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 179)
# Title Authors PMID Year
1
Cerebrospinal fluid endocannabinoid levels in Gilles de la Tourette syndrome. 61
32272483 2020
2
Cytokine expression profiles in Autism spectrum disorder: A multi-center study from Turkey. 61
32563959 2020
3
The Development of a Practical Artificial Intelligence Tool for Diagnosing and Evaluating Autism Spectrum Disorder: Multicenter Study. 61
32041690 2020
4
Deep Brain Stimulation for Gilles de la Tourette Syndrome: Toward Limbic Targets. 61
32429219 2020
5
Oxiracetam and Zinc Ameliorates Autism-Like Symptoms in Propionic Acid Model of Rats. 61
32026359 2020
6
Exome sequencing identifies de novo splicing variant in XRCC6 in sporadic case of autism. 61
31827253 2020
7
Differential regulation of Nrf2 is linked to elevated inflammation and nitrative stress in monocytes of children with autism. 61
31884317 2020
8
Genetic evidence of gender difference in autism spectrum disorder supports the female-protective effect. 61
32066658 2020
9
Exergames for Children and Adolescents with Autism Spectrum Disorder: An Overview. 61
32508964 2020
10
Dietary Phytochemicals as Neurotherapeutics for Autism Spectrum Disorder: Plausible Mechanism and Evidence. 61
32006377 2020
11
A study of voice and non-voice processing in Prader-Willi syndrome. 61
31959191 2020
12
Transcriptome analysis of fibroblasts from schizophrenia patients reveals differential expression of schizophrenia-related genes. 61
31959813 2020
13
Overview and Introduction to Autism Spectrum Disorder (ASD). 61
32006355 2020
14
Natural Products and Their Therapeutic Effect on Autism Spectrum Disorder. 61
32006376 2020
15
Probiotics and oxytocin nasal spray as neuro-social-behavioral interventions for patients with autism spectrum disorders: a pilot randomized controlled trial protocol. 61
32082606 2020
16
The Effect of Autistic Traits on Social Orienting in Typically Developing Individuals. 61
32425859 2020
17
Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells. 61
32012656 2020
18
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
19
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. 61
31036918 2019
20
Effects of repetitive transcranial magnetic stimulation on children with low-function autism. 61
31228356 2019
21
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
22
Gene-based analysis of ADHD using PASCAL: a biological insight into the novel associated genes. 61
31651322 2019
23
The Global Prader-Willi Syndrome Registry: Development, Launch, and Early Demographics. 61
31540108 2019
24
Role of the endocannabinoid system in neurological disorders. 61
30858029 2019
25
FOXG1 Regulates PRKAR2B Transcriptionally and Posttranscriptionally via miR200 in the Adult Hippocampus. 61
30539330 2019
26
Genetic association of DNMT variants can play a critical role in defining the methylation patterns in autism. 61
30786140 2019
27
An Autism-Related, Nonsense Foxp1 Mutant Induces Autophagy and Delays Radial Migration of the Cortical Neurons. 61
30124790 2019
28
Replication of previous GWAS hits suggests the association between rs4307059 near MSNP1AS and autism in a Chinese Han population. 61
30610940 2019
29
Family-based association study of ZNF804A polymorphisms and autism in a Han Chinese population. 61
31122238 2019
30
Transient increased thalamic-sensory connectivity and decreased whole-brain dynamism in autism. 61
29883735 2019
31
PREDICTION OF TREATMENT OUTCOME FOR AUTISM FROM STRUCTURE OF THE BRAIN BASED ON SURE INDEPENDENCE SCREENING. 61
32256966 2019
32
Guideline Development for Technological Interventions for Children and Young People to Self-Manage Attention Deficit Hyperactivity Disorder: Realist Evaluation. 61
30942692 2019
33
Prevalence and Treatment Patterns of Autism Spectrum Disorder in the United States, 2016. 61
30508021 2019
34
Behavioral profiles in Rett syndrome: Data from the natural history study. 61
30217666 2019
35
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP. 61
29724491 2019
36
Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene. 61
30664616 2019
37
Involvement of the Cortico-Basal Ganglia-Thalamocortical Loop in Developmental Stuttering. 61
32047456 2019
38
Melanotan-II reverses autistic features in a maternal immune activation mouse model of autism. 61
30629642 2019
39
Genome-Wide DNA Methylation Analysis Reveals Epigenetic Pattern of SH2B1 in Chinese Monozygotic Twins Discordant for Autism Spectrum Disorder. 61
31379474 2019
40
Larval zebrafish model for studying the effects of valproic acid on neurodevelopment: An approach towards modeling autism. 61
30500431 2019
41
Social stigma and self-perception in adolescents with tourette syndrome. 61
31354374 2019
42
A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture? 61
30793011 2019
43
Estimates of the prevalence of speech and motor speech disorders in persons with complex neurodevelopmental disorders. 61
31221012 2019
44
Association of Maternal Insecticide Levels With Autism in Offspring From a National Birth Cohort. 61
30111184 2018
45
Clinical and genetic Rett syndrome variants are defined by stable electrophysiological profiles. 61
30340473 2018
46
Maternal Exposures Associated with Autism Spectrum Disorder in Jamaican Children. 61
29549549 2018
47
Quantitative proteomics reveals neuronal ubiquitination of Rngo/Ddi1 and several proteasomal subunits by Ube3a, accounting for the complexity of Angelman syndrome. 61
29788202 2018
48
[CHILDREN WITH ATTENTION DEFICIT HYPERACTIVITY DISORDER (ADHD): CLINICAL ACTIVITY IN ISRAEL]. 61
29688639 2018
49
Anomalous network architecture of the resting brain in children who stutter. 61
28214015 2018
50
Association of rare missense variants in the second intracellular loop of NaV1.7 sodium channels with familial autism. 61
27956748 2018

Variations for Non-Specific Syndromic Intellectual Disability

ClinVar genetic disease variations for Non-Specific Syndromic Intellectual Disability:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BPTF NM_182641.4(BPTF):c.989del (p.Leu330fs)deletion Pathogenic 431072 rs1135401778 17:65850431-65850431 17:67854315-67854315
2 BPTF NM_182641.4(BPTF):c.2482dup (p.Glu828fs)duplication Pathogenic 431064 rs1555639411 17:65890218-65890219 17:67894102-67894103
3 BPTF NM_182641.4(BPTF):c.4836_4837TG[1] (p.Val1613fs)short repeat Pathogenic 431065 rs1555652383 17:65908836-65908837 17:67912720-67912721
4 BPTF NM_182641.4(BPTF):c.8701A>T (p.Lys2901Ter)SNV Pathogenic 431066 rs1555693714 17:65972049-65972049 17:67975933-67975933
5 BPTF NM_182641.4(BPTF):c.255del (p.Ser86fs)deletion Pathogenic 828184 17:65822088-65822088 17:67825972-67825972
6 BPTF NM_182641.4(BPTF):c.8609T>G (p.Met2870Arg)SNV Pathogenic/Likely pathogenic 431071 rs782736894 17:65971957-65971957 17:67975841-67975841
7 BPTF NM_182641.4(BPTF):c.8625dup (p.Asn2876Ter)duplication Likely pathogenic 689464 17:65971972-65971973 17:67975856-67975857
8 BPTF NM_182641.4(BPTF):c.2832_2843del (p.941_944NMDE[1])deletion Uncertain significance 690388 17:65905706-65905717 17:67909590-67909601
9 BPTF NM_182641.4(BPTF):c.3310G>C (p.Glu1104Gln)SNV Uncertain significance 800753 17:65907310-65907310 17:67911194-67911194
10 BPTF NM_182641.4(BPTF):c.1979A>G (p.Lys660Arg)SNV Uncertain significance 915428 17:65888074-65888074 17:67891958-67891958

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 9.65 ZMIZ1 TRMT1 TCF20 RLIM PSMD12 MED13
2 nucleus GO:0005634 9.47 ZMIZ1 TRMT1 TCF20 RLIM PUS7 MYT1L
3 NuA4 histone acetyltransferase complex GO:0035267 9.26 ACTL6B ACTL6A
4 SWI/SNF complex GO:0016514 9.16 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 positive regulation of nucleic acid-templated transcription GO:1903508 9.43 ZMIZ1 ACTL6B ACTL6A
2 regulation of transcription by RNA polymerase II GO:0006357 9.43 ZMIZ1 MYT1L MED13 BPTF ACTL6B ACTL6A
3 histone H4 acetylation GO:0043967 9.4 ACTL6B ACTL6A
4 ATP-dependent chromatin remodeling GO:0043044 9.37 ACTL6B ACTL6A
5 chromatin remodeling GO:0006338 9.33 BPTF ACTL6B ACTL6A
6 spinal cord development GO:0021510 9.32 ACTL6B ACTL6A
7 chromatin organization GO:0006325 9.02 KMT2E BPTF BCORL1 ACTL6B ACTL6A

Molecular functions related to Non-Specific Syndromic Intellectual Disability according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription coactivator activity GO:0003713 9.02 ZMIZ1 TCF20 MED13 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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