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Browse result for Microcephaly
※ introduction Microcephaly (from Neo-Latin microcephalia, from Ancient Greek ¦Ì¦É¦Ê¦Ñ?? mikr¨®s "small" and ¦Ê¦Å¦Õ¦Ã�¦Ë? kephal¨¦ "head") is a medical condition involving a smaller-than-normal head. Microcephaly may be present at birth or it may develop in the first few years of life. Brain development is often affected; people with this disorder often have an intellectual disability, poor motor function, poor speech, abnormal facial features, seizures and dwarfism.
The disorder is caused by a disruption to the genetic processes that form the brain early in pregnancy, though the cause is not identified in most cases. Many genetic syndromes can result in microcephaly, including chromosomal and single-gene conditions, though almost always in combination with other symptoms. Mutations that result solely in microcephaly (primary microcephaly) exist but are less common. External toxins to the embryo, such as alcohol during pregnancy or vertically transmitted infections, can also result in microcephaly. Microcephaly serves as an important neurological indication or warning sign, but no uniformity exists in its definition. It is usually defined as a head circumference (HC) more than two standard deviations below the mean for age and sex. Some academics advocate defining it as head circumference more than three standard deviations below the mean for the age and sex.
There is no specific treatment that returns the head size to normal. In general, life expectancy for individuals with microcephaly is reduced, and the prognosis for normal brain function is poor. Occasional cases develop normal intelligence and grow normally (apart from persistently small head circumference). It is reported that in the United States, microcephaly occurs in 1 in 800-5,000 births.
Reference
Wiki: Microcephaly
Reference
Wiki: Microcephaly
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD00110 | P23786 | 1376 | CPT2 | Carnitine O-palmitoyltransferase 2, mitochondrial | Homo sapiens |
| PTMD00970 | P52732 | 3832 | KIF11 | Kinesin-like protein KIF11 | Homo sapiens |
| PTMD00039 | P56524 | 9759 | HDAC4 | Histone deacetylase 4 | Homo sapiens |
| PTMD00967 | P98160 | 3339 | HSPG2 | Basement membrane-specific heparan sulfate proteoglycan core protein [Cleaved into: Endorepellin; LG3 peptide] | Homo sapiens |
| PTMD00748 | Q8NEZ4 | 58508 | KMT2C | Histone-lysine N-methyltransferase 2C | Homo sapiens |
| PTMD00764 | Q92974 | 9181 | ARHGEF2 | Rho guanine nucleotide exchange factor 2 | Homo sapiens |
| PTMD01435 | O60934 | 4683 | NBN | Nibrin | Homo sapiens |
| PTMD01648 | P51532 | 6597 | SMARCA4 | Transcription activator BRG1 | Homo sapiens |
| PTMD01125 | Q13315 | 472 | ATM | Serine-protein kinase ATM | Homo sapiens |
| PTMD01744 | Q13535 | 545 | ATR | Serine/threonine-protein kinase ATR | Homo sapiens |
| PTMD02251 | O00192 | 421 | ARVCF | Splicing regulator ARVCF | Homo sapiens |
| PTMD02386 | O14578 | 11113 | CIT | Citron Rho-interacting kinase | Homo sapiens |
| PTMD03334 | O94986 | 22995 | CEP152 | Centrosomal protein of 152 kDa | Homo sapiens |
| PTMD03475 | O95613 | 5116 | PCNT | Pericentrin | Homo sapiens |
| PTMD03481 | O95630 | 10617 | STAMBP | STAM-binding protein | Homo sapiens |
| PTMD04438 | P20700 | 4001 | LMNB1 | Lamin-B1 | Homo sapiens |
| PTMD04881 | P33991 | 4173 | MCM4 | DNA replication licensing factor MCM4 | Homo sapiens |
| PTMD05105 | P42695 | 23310 | NCAPD3 | Condensin-2 complex subunit D3 | Homo sapiens |
| PTMD05157 | P45954 | 36 | ACADSB | Short/branched chain specific acyl-CoA dehydrogenase, mitochondrial | Homo sapiens |
| PTMD05173 | P46100 | 546 | ATRX | Transcriptional regulator ATRX | Homo sapiens |
| PTMD05207 | P47897 | 5859 | QARS1 | Glutamine--tRNA ligase | Homo sapiens |
| PTMD05307 | P49454 | 1063 | CENPF | Centromere protein F | Homo sapiens |
| PTMD05387 | P50542 | 5830 | PEX5 | Peroxisomal targeting signal 1 receptor | Homo sapiens |
| PTMD05431 | P51531 | 6595 | SMARCA2 | Probable global transcription activator SNF2L2 | Homo sapiens |
| PTMD05434 | P51572 | 10134 | BCAP31 | B-cell receptor-associated protein 31 | Homo sapiens |
| PTMD05616 | P55075 | 2253 | FGF8 | Fibroblast growth factor 8 | Homo sapiens |
| PTMD05632 | P55265 | 103 | ADAR | Double-stranded RNA-specific adenosine deaminase | Homo sapiens |
| PTMD05916 | P63261 | 71 | ACTG1 | Actin, cytoplasmic 2 [Cleaved into: Actin, cytoplasmic 2, N-terminally processed] | Homo sapiens |
| PTMD05953 | P78364 | 1911 | PHC1 | Polyhomeotic-like protein 1 | Homo sapiens |
| PTMD06186 | Q03252 | 84823 | LMNB2 | Lamin-B2 | Homo sapiens |
| PTMD06865 | Q15003 | 23397 | NCAPH | Condensin complex subunit 2 | Homo sapiens |
| PTMD06876 | Q15021 | 9918 | NCAPD2 | Condensin complex subunit 1 | Homo sapiens |
| PTMD06881 | Q15029 | 9343 | EFTUD2 | 116 kDa U5 small nuclear ribonucleoprotein component | Homo sapiens |
| PTMD06897 | Q15058 | 9928 | KIF14 | Kinesin-like protein KIF14 | Homo sapiens |
| PTMD07690 | Q5SWA1 | 84919 | PPP1R15B | Protein phosphatase 1 regulatory subunit 15B | Homo sapiens |
| PTMD07739 | Q5T440 | 20020 | IBA57 | Putative transferase CAF17, mitochondrial | Homo sapiens |
| PTMD07991 | Q68CP9 | 19652 | ARID2 | AT-rich interactive domain-containing protein 2 | Homo sapiens |
| PTMD08198 | Q6NXR4 | 80185 | TTI2 | TELO2-interacting protein 2 | Homo sapiens |
| PTMD08892 | Q7Z6J9 | 28398 | TSEN54 | tRNA-splicing endonuclease subunit Sen54 | Homo sapiens |
| PTMD08922 | Q7Z7G8 | 15768 | VPS13B | Intermembrane lipid transfer protein VPS13B | Homo sapiens |
| PTMD09149 | Q86XL3 | 23141 | ANKLE2 | Ankyrin repeat and LEM domain-containing protein 2 | Homo sapiens |
| PTMD10135 | Q8NG31 | 57082 | KNL1 | Kinetochore scaffold 1 | Homo sapiens |
| PTMD10800 | Q92766 | 6239 | RREB1 | Ras-responsive element-binding protein 1 | Homo sapiens |
| PTMD11319 | Q96HP0 | 57572 | DOCK6 | Dedicator of cytokinesis protein 6 | Homo sapiens |
| PTMD11465 | Q96L73 | 64324 | NSD1 | Histone-lysine N-methyltransferase, H3 lysine-36 specific | Homo sapiens |
| PTMD11470 | Q96LB3 | 80173 | IFT74 | Intraflagellar transport protein 74 homolog | Homo sapiens |
| PTMD11789 | Q96TA2 | 10730 | YME1L1 | ATP-dependent zinc metalloprotease YME1L1 | Homo sapiens |
| PTMD11876 | Q99708 | 5932 | RBBP8 | DNA endonuclease RBBP8 | Homo sapiens |
| PTMD11884 | Q99741 | 990 | CDC6 | Cell division control protein 6 homolog ) | Homo sapiens |
| PTMD12460 | Q9C0A6 | 55209 | SETD5 | Histone-lysine N-methyltransferase SETD5 | Homo sapiens |
| PTMD12676 | Q9H267 | 26276 | VPS33B | Vacuolar protein sorting-associated protein 33B | Homo sapiens |
| PTMD13103 | Q9HC21 | 60386 | SLC25A19 | Mitochondrial thiamine pyrophosphate carrier | Homo sapiens |
| PTMD13440 | Q9NSC2 | 6299 | SALL1 | Sal-like protein 1 | Homo sapiens |
| PTMD14135 | Q9UHF7 | 7227 | TRPS1 | Zinc finger transcription factor Trps1 | Homo sapiens |
| PTMD14765 | Q9Y3A4 | 27341 | RRP7A | Ribosomal RNA-processing protein 7 homolog A | Homo sapiens |
| PTMD15040 | Q9Y6D5 | 10564 | ARFGEF2 | Brefeldin A-inhibited guanine nucleotide-exchange protein 2 | Homo sapiens |
