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Browse result for Intellectual developmental disorder
※ 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: Intellectual developmental disorder
Reference
Wiki: Intellectual developmental disorder
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD00612 | P51812 | 6197 | RPS6KA3 | Ribosomal protein S6 kinase alpha-3 | Homo sapiens |
| PTMD00086 | P63000 | 5879 | RAC1 | Ras-related C3 botulinum toxin substrate 1 | Homo sapiens |
| PTMD00310 | Q06945 | 6659 | SOX4 | Transcription factor SOX-4 | Homo sapiens |
| PTMD00204 | Q13153 | 5058 | PAK1 | Serine/threonine-protein kinase PAK 1 | Homo sapiens |
| PTMD00680 | Q13554 | 816 | CAMK2B | Calcium/calmodulin-dependent protein kinase type II subunit beta | Homo sapiens |
| PTMD00681 | Q13555 | 818 | CAMK2G | Calcium/calmodulin-dependent protein kinase type II subunit gamma | Homo sapiens |
| PTMD00779 | Q96RK0 | 23152 | CIC | Protein capicua homolog | Homo sapiens |
| PTMD00059 | Q9UQM7 | 815 | CAMK2A | Calcium/calmodulin-dependent protein kinase type II subunit alpha | Homo sapiens |
| PTMD01329 | P35716 | 6664 | SOX11 | Transcription factor SOX-11 | Homo sapiens |
| PTMD01626 | P43354 | 4929 | NR4A2 | Nuclear receptor subfamily 4 group A member 2 | Homo sapiens |
| PTMD01650 | P51608 | 4204 | MECP2 | Methyl-CpG-binding protein 2 | Homo sapiens |
| PTMD01116 | Q01105 | 6418 | SET | Protein SET | Homo sapiens |
| PTMD01762 | Q15543 | 6884 | TAF13 | Transcription initiation factor TFIID subunit 13 18) | Homo sapiens |
| PTMD02282 | O00303 | 8665 | EIF3F | Eukaryotic translation initiation factor 3 subunit F | Homo sapiens |
| PTMD02338 | O00571 | 1654 | DDX3X | ATP-dependent RNA helicase DDX3X | Homo sapiens |
| PTMD02432 | O14787 | 30000 | TNPO2 | Transportin-2 | Homo sapiens |
| PTMD02462 | O14936 | 8573 | CASK | Peripheral plasma membrane protein CASK | Homo sapiens |
| PTMD02551 | O15247 | 1193 | CLIC2 | Chloride intracellular channel protein 2 | Homo sapiens |
| PTMD02999 | O75083 | 9948 | WDR1 | WD repeat-containing protein 1 | Homo sapiens |
| PTMD03212 | O75914 | 5063 | PAK3 | Serine/threonine-protein kinase PAK 3 | Homo sapiens |
| PTMD03227 | O75962 | 7204 | TRIO | Triple functional domain protein | Homo sapiens |
| PTMD03478 | O95625 | 27107 | ZBTB11 | Zinc finger and BTB domain-containing protein 11 | Homo sapiens |
| PTMD03869 | P08247 | 6855 | SYP | Synaptophysin | Homo sapiens |
| PTMD04330 | P17600 | 6853 | SYN1 | Synapsin-1 | Homo sapiens |
| PTMD04393 | P19532 | 7030 | TFE3 | Transcription factor E3 | Homo sapiens |
| PTMD04407 | P20020 | 490 | ATP2B1 | Plasma membrane calcium-transporting ATPase 1 | Homo sapiens |
| PTMD04565 | P23416 | 2742 | GLRA2 | Glycine receptor subunit alpha-2 | Homo sapiens |
| PTMD04681 | P27635 | 6134 | RPL10 | Large ribosomal subunit protein uL16 | Homo sapiens |
| PTMD04805 | P31150 | 2664 | GDI1 | Rab GDP dissociation inhibitor alpha | Homo sapiens |
| PTMD05062 | P41229 | 8242 | KDM5C | Lysine-specific demethylase 5C demethylase 5C) | Homo sapiens |
| PTMD05085 | P42261 | 2890 | GRIA1 | Glutamate receptor 1 | Homo sapiens |
| PTMD05087 | P42263 | 2892 | GRIA3 | Glutamate receptor 3 | Homo sapiens |
| PTMD05295 | P49336 | 1024 | CDK8 | Cyclin-dependent kinase 8 | Homo sapiens |
| PTMD05326 | P49711 | 10664 | CTCF | Transcriptional repressor CTCF | Homo sapiens |
| PTMD05519 | P52788 | 6611 | SMS | Spermine synthase | Homo sapiens |
| PTMD05526 | P52848 | 3340 | NDST1 | Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 [Includes: Heparan sulfate N-deacetylase 1 ; Heparan sulfate N-sulfotransferase 1 ] | Homo sapiens |
| PTMD05651 | P55795 | 3188 | HNRNPH2 | Heterogeneous nuclear ribonucleoprotein H2 [Cleaved into: Heterogeneous nuclear ribonucleoprotein H2, N-terminally processed] | Homo sapiens |
| PTMD05886 | P62873 | 2782 | GNB1 | Guanine nucleotide-binding protein G/G/G subunit beta-1 | Homo sapiens |
| PTMD06080 | Q00610 | 1213 | CLTC | Clathrin heavy chain 1 | Homo sapiens |
| PTMD06227 | Q05639 | 1917 | EEF1A2 | Elongation factor 1-alpha 2 | Homo sapiens |
| PTMD06362 | Q11203 | 6487 | ST3GAL3 | CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase GlcNAc alpha-2,3 sialyltransferase) | Homo sapiens |
| PTMD06601 | Q13620 | 8450 | CUL4B | Cullin-4B | Homo sapiens |
| PTMD06707 | Q14202 | 9203 | ZMYM3 | Zinc finger MYM-type protein 3 | Homo sapiens |
| PTMD06725 | Q14320 | 9130 | FAM50A | Protein FAM50A | Homo sapiens |
| PTMD07132 | Q16650 | 10716 | TBR1 | T-box brain protein 1 | Homo sapiens |
| PTMD07390 | Q4FZB7 | 51111 | KMT5B | Histone-lysine N-methyltransferase KMT5B 4-20 homolog 1) | Homo sapiens |
| PTMD07619 | Q5JU85 | 23096 | IQSEC2 | IQ motif and SEC7 domain-containing protein 2 | Homo sapiens |
| PTMD08059 | Q6DN90 | 9922 | IQSEC1 | IQ motif and SEC7 domain-containing protein 1 | Homo sapiens |
| PTMD08090 | Q6IA86 | 55250 | ELP2 | Elongator complex protein 2 | Homo sapiens |
| PTMD08364 | Q6RI45 | 25406 | BRWD3 | Bromodomain and WD repeat-containing protein 3 | Homo sapiens |
| PTMD08665 | Q765P7 | 92154 | MTSS2 | Protein MTSS 2 | Homo sapiens |
| PTMD08904 | Q7Z6Z7 | 10075 | HUWE1 | E3 ubiquitin-protein ligase HUWE1 | Homo sapiens |
| PTMD08998 | Q86UE8 | 11011 | TLK2 | Serine/threonine-protein kinase tousled-like 2 | Homo sapiens |
| PTMD09147 | Q86XK2 | 80204 | FBXO11 | F-box only protein 11 | Homo sapiens |
| PTMD09722 | Q8N5F7 | 79576 | NKAP | NF-kappa-B-activating protein | Homo sapiens |
| PTMD09771 | Q8N6M0 | 51633 | OTUD6B | Deubiquitinase OTUD6B | Homo sapiens |
| PTMD10214 | Q8NI27 | 57187 | THOC2 | THO complex subunit 2 | Homo sapiens |
| PTMD11097 | Q96CW1 | 1173 | AP2M1 | AP-2 complex subunit mu | Homo sapiens |
| PTMD11223 | Q96FE5 | 84894 | LINGO1 | Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 | Homo sapiens |
| PTMD11659 | Q96PZ0 | 54517 | PUS7 | Pseudouridylate synthase 7 homolog | Homo sapiens |
| PTMD11691 | Q96QS3 | 17030 | ARX | Homeobox protein ARX | Homo sapiens |
| PTMD12289 | Q9BXJ9 | 80155 | NAA15 | N-alpha-acetyltransferase 15, NatA auxiliary subunit | 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 |
| PTMD12460 | Q9C0A6 | 55209 | SETD5 | Histone-lysine N-methyltransferase SETD5 | Homo sapiens |
| PTMD12728 | Q9H334 | 27086 | FOXP1 | Forkhead box protein P1 | Homo sapiens |
| PTMD13058 | Q9HB75 | 55367 | PIDD1 | p53-induced death domain-containing protein 1 [Cleaved into: PIDD-N; PIDD-C; PIDD-CC] | Homo sapiens |
| PTMD13343 | Q9NR48 | 55870 | ASH1L | Histone-lysine N-methyltransferase ASH1L | Homo sapiens |
| PTMD13353 | Q9NR82 | 56479 | KCNQ5 | Potassium voltage-gated channel subfamily KQT member 5 | Homo sapiens |
| PTMD13900 | Q9P267 | 55777 | MBD5 | Methyl-CpG-binding domain protein 5 | Homo sapiens |
| PTMD14062 | Q9UET6 | 24140 | FTSJ1 | tRNA /guanosine-2'-O)-methyltransferase | Homo sapiens |
| PTMD14161 | Q9UHV7 | 9969 | MED13 | Mediator of RNA polymerase II transcription subunit 13 | Homo sapiens |
| PTMD14546 | Q9UPS6 | SETD1B | Histone-lysine N-methyltransferase SETD1B | Homo sapiens | |
| PTMD14961 | Q9Y5P4 | 10087 | CERT1 | Ceramide transfer protein | Homo sapiens |
