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Browse result for Mental retardation
※ introduction Intellectual disability (ID), also known as general learning disability (in the United Kingdom) and mental retardation, is a generalized neurodevelopmental disorder characterized by significant impairment in intellectual and adaptive functioning that is first apparent during childhood. Children with intellectual disabilities typically have an intelligence quotient (IQ) below 70 and deficits in at least two adaptive behaviors that affect everyday, general living. According to the DSM-5, intellectual functions include reasoning, problem solving, planning, abstract thinking, judgment, academic learning, and learning from experience. Deficits in these functions must be confirmed by clinical evaluation and individualized standard IQ testing. On the other hand, adaptive behaviors include the social, developmental, and practical skills people learn to perform tasks in their everyday lives. Deficits in adaptive functioning often compromises an individual's independence and ability to meet their social responsibility.
Intellectual disability is subdivided into syndromic intellectual disability, in which intellectual deficits associated with other medical and behavioral signs and symptoms are present, and non-syndromic intellectual disability, in which intellectual deficits appear without other abnormalities. Down syndrome and fragile X syndrome are examples of syndromic intellectual disabilities.
Intellectual disability affects about 2 to 3% of the general population. Seventy-five to ninety percent of the affected people have mild intellectual disability. Non-syndromic, or idiopathic cases account for 30 to 50% of these cases. About a quarter of cases are caused by a genetic disorder, and about 5% of cases are inherited. Cases of unknown cause affect about 95 million people as of 2013.
Reference
Wiki: Mental retardation
Reference
Wiki: Mental retardation
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD01001 | Q13224 | 2904 | GRIN2B | Glutamate receptor ionotropic, NMDA 2B | Homo sapiens |
| PTMD00203 | Q13627 | 1859 | DYRK1A | Dual specificity tyrosine-phosphorylation-regulated kinase 1A | Homo sapiens |
| PTMD01594 | P31943 | 3187 | HNRNPH1 | Heterogeneous nuclear ribonucleoprotein H [Cleaved into: Heterogeneous nuclear ribonucleoprotein H, N-terminally processed] | Homo sapiens |
| PTMD01329 | P35716 | 6664 | SOX11 | Transcription factor SOX-11 | Homo sapiens |
| PTMD01727 | Q06413 | 4208 | MEF2C | Myocyte-specific enhancer factor 2C | Homo sapiens |
| PTMD02338 | O00571 | 1654 | DDX3X | ATP-dependent RNA helicase DDX3X | Homo sapiens |
| PTMD04681 | P27635 | 6134 | RPL10 | Large ribosomal subunit protein uL16 | Homo sapiens |
| PTMD05439 | P51610 | 3054 | HCFC1 | Host cell factor 1 [Cleaved into: HCF N-terminal chain 1; HCF N-terminal chain 2; HCF N-terminal chain 3; HCF N-terminal chain 4; HCF N-terminal chain 5; HCF N-terminal chain 6; HCF C-terminal chain 1; HCF C-terminal chain 2; HCF C-terminal chain 3; HCF C-terminal chain 4; HCF C-terminal chain 5; HCF C-terminal chain 6] | Homo sapiens |
| PTMD05651 | P55795 | 3188 | HNRNPH2 | Heterogeneous nuclear ribonucleoprotein H2 [Cleaved into: Heterogeneous nuclear ribonucleoprotein H2, N-terminally processed] | Homo sapiens |
| PTMD06076 | Q00577 | 5813 | PURA | Transcriptional activator protein Pur-alpha | Homo sapiens |
| PTMD06317 | Q08J23 | 54888 | NSUN2 | RNA cytosine C-methyltransferase NSUN2 -methyltransferase) -methyltransferase) | Homo sapiens |
| PTMD07552 | Q5H8A4 | 54872 | PIGG | GPI ethanolamine phosphate transferase 2 | Homo sapiens |
| PTMD08653 | Q71F56 | 23389 | MED13L | Mediator of RNA polymerase II transcription subunit 13-like | Homo sapiens |
| PTMD08904 | Q7Z6Z7 | 10075 | HUWE1 | E3 ubiquitin-protein ligase HUWE1 | Homo sapiens |
| PTMD11174 | Q96EK4 | 57215 | THAP11 | THAP domain-containing protein 11 | Homo sapiens |
| PTMD11663 | Q96Q05 | 83696 | TRAPPC9 | Trafficking protein particle complex subunit 9 | Homo sapiens |
| PTMD12415 | Q9BZI7 | 65109 | UPF3B | Regulator of nonsense transcripts 3B | Homo sapiens |
| PTMD12419 | Q9BZK7 | 79718 | TBL1XR1 | F-box-like/WD repeat-containing protein TBL1XR1 | Homo sapiens |
| PTMD14316 | Q9UKM7 | 11253 | MAN1B1 | Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase | Homo sapiens |
| PTMD14961 | Q9Y5P4 | 10087 | CERT1 | Ceramide transfer protein | Homo sapiens |
