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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



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD01001Q132242904
GRIN2B
Glutamate receptor ionotropic, NMDA 2B
Homo sapiens
PTMD00203Q136271859
DYRK1A
Dual specificity tyrosine-phosphorylation-regulated kinase 1A
Homo sapiens
PTMD01594P319433187
HNRNPH1
Heterogeneous nuclear ribonucleoprotein H [Cleaved into: Heterogeneous nuclear ribonucleoprotein H, N-terminally processed]
Homo sapiens
PTMD01329P357166664
SOX11
Transcription factor SOX-11
Homo sapiens
PTMD01727Q064134208
MEF2C
Myocyte-specific enhancer factor 2C
Homo sapiens
PTMD02338O005711654
DDX3X
ATP-dependent RNA helicase DDX3X
Homo sapiens
PTMD04681P276356134
RPL10
Large ribosomal subunit protein uL16
Homo sapiens
PTMD05439P516103054
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
PTMD05651P557953188
HNRNPH2
Heterogeneous nuclear ribonucleoprotein H2 [Cleaved into: Heterogeneous nuclear ribonucleoprotein H2, N-terminally processed]
Homo sapiens
PTMD06076Q005775813
PURA
Transcriptional activator protein Pur-alpha
Homo sapiens
PTMD06317Q08J2354888
NSUN2
RNA cytosine C-methyltransferase NSUN2 -methyltransferase) -methyltransferase)
Homo sapiens
PTMD07552Q5H8A454872
PIGG
GPI ethanolamine phosphate transferase 2
Homo sapiens
PTMD08653Q71F5623389
MED13L
Mediator of RNA polymerase II transcription subunit 13-like
Homo sapiens
PTMD08904Q7Z6Z710075
HUWE1
E3 ubiquitin-protein ligase HUWE1
Homo sapiens
PTMD11174Q96EK457215
THAP11
THAP domain-containing protein 11
Homo sapiens
PTMD11663Q96Q0583696
TRAPPC9
Trafficking protein particle complex subunit 9
Homo sapiens
PTMD12415Q9BZI765109
UPF3B
Regulator of nonsense transcripts 3B
Homo sapiens
PTMD12419Q9BZK779718
TBL1XR1
F-box-like/WD repeat-containing protein TBL1XR1
Homo sapiens
PTMD14316Q9UKM711253
MAN1B1
Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase
Homo sapiens
PTMD14961Q9Y5P410087
CERT1
Ceramide transfer protein
Homo sapiens