Požymis
Small head present at birth
Klinikinis pavadinimas: Primary microcephaly
Head circumference below 2 standard deviations below the mean for age and gender at birth.
Santrauka
- Taip pat vadinama
- Congenital decreased head circumference, Congenital microcephaly, Congenital small skull, Decreased head circumference present at birth, Microcephaly present at birth, Small cranium present at birth
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test101 genas susijęs su Small head present at birth
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Small head present at birth. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ANKLE2ankyrin repeat and LEM domain containing 2 | Visada | 1 ligoje |
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Visada | 1 ligoje |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Visada | 1 ligoje |
| ATXN7L3ataxin 7 like 3 | Visada | 1 ligoje |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Visada | 1 ligoje |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Visada | 1 ligoje |
| CDK6cyclin dependent kinase 6 | Visada | 1 ligoje |
| CENPEcentromere protein E | Visada | 1 ligoje |
| CEP135centrosomal protein 135 | Visada | 1 ligoje |
| CEP295centrosomal protein 295 | Visada | 1 ligoje |
| CEP63centrosomal protein 63 | Visada | 1 ligoje |
| CITcitron rho-interacting serine/threonine kinase | Visada | 1 ligoje |
| COASYCoenzyme A synthase | Visada | 1 ligoje |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Visada | 1 ligoje |
| CTNNB1catenin beta 1 | Visada | 2 ligose |
| DTYMKdeoxythymidylate kinase | Visada | 1 ligoje |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Visada | 1 ligoje |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Visada | 1 ligoje |
| FZR1fizzy and cell division cycle 20 related 1 | Visada | 1 ligoje |
| GINS3GINS complex subunit 3 | Visada | 1 ligoje |
| GTPBP1GTP binding protein 1 | Visada | 1 ligoje |
| GTPBP2GTP binding protein 2 | Visada | 1 ligoje |
| IARS1isoleucyl-tRNA synthetase 1 | Visada | 1 ligoje |
| IER3IP1immediate early response 3 interacting protein 1 | Visada | 1 ligoje |
| KAT6Alysine acetyltransferase 6A | Visada | 1 ligoje |
| KNL1kinetochore scaffold 1 | Visada | 1 ligoje |
| LAGE3L antigen family member 3 | Visada | 1 ligoje |
| LGI1leucine rich glioma inactivated 1 | Visada | 1 ligoje |
| LMNB2lamin B2 | Visada | 1 ligoje |
| MCPH1microcephalin 1 | Visada | 1 ligoje |
| NBNnibrin | Visada | 1 ligoje |
| NCAPD2non-SMC condensin I complex subunit D2 | Visada | 1 ligoje |
| NDE1nudE neurodevelopment protein 1 | Visada | 3 ligose |
| NOTCH3notch receptor 3 | Visada | 1 ligoje |
| NUP188nucleoporin 188 | Visada | 1 ligoje |
| NUP37nucleoporin 37 | Visada | 1 ligoje |
| PCDH12protocadherin 12 | Visada | 1 ligoje |
| PDCD6IPprogrammed cell death 6 interacting protein | Visada | 1 ligoje |
| PHGDHphosphoglycerate dehydrogenase | Visada | 3 ligose |
| PPFIBP1PPFIB scaffold protein 1 | Visada | 1 ligoje |
Rodyti dar 61 geną
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| RBBP8RB binding protein 8, endonuclease | Visada | 2 ligose |
| SASS6SAS-6 centriolar assembly protein | Visada | 1 ligoje |
| SLC25A19solute carrier family 25 member 19 | Visada | 1 ligoje |
| SPOPspeckle type BTB/POZ protein | Visada | 1 ligoje |
| STILSTIL centriolar assembly protein | Visada | 1 ligoje |
| TOP2BDNA topoisomerase II beta | Visada | 1 ligoje |
| TP53RKTP53 regulating kinase | Visada | 1 ligoje |
| TPRKBTP53RK binding protein | Visada | 1 ligoje |
| TRAPPC14trafficking protein particle complex subunit 14 | Visada | 1 ligoje |
| TRMT10AtRNA methyltransferase 10A | Visada | 2 ligose |
| TUBBtubulin beta class I | Visada | 1 ligoje |
| WSB2WD repeat and SOCS box containing 2 | Visada | 1 ligoje |
| ZNF335zinc finger protein 335 | Visada | 1 ligoje |
| CLPBClpB family mitochondrial disaggregase | Labai dažnai (80–99%) | 1 ligoje |
| KATNB1katanin regulatory subunit B1 | Labai dažnai (80–99%) | 1 ligoje |
| PORCNporcupine O-acyltransferase | Labai dažnai (80–99%) | 1 ligoje |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Labai dažnai (80–99%) | 1 ligoje |
| PSAT1phosphoserine aminotransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| RELNreelin | Labai dažnai (80–99%) | 1 ligoje |
| TELO2telomere maintenance 2 | Labai dažnai (80–99%) | 1 ligoje |
| TXN2thioredoxin 2 | Labai dažnai (80–99%) | 1 ligoje |
| AFF3ALF transcription elongation factor 3 | Dažnai (30–79%) | 1 ligoje |
| COG7component of oligomeric golgi complex 7 | Dažnai (30–79%) | 2 ligose |
| DNM1Ldynamin 1L | Dažnai (30–79%) | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Dažnai (30–79%) | 1 ligoje |
| EIF5Aeukaryotic translation initiation factor 5A | Dažnai (30–79%) | 1 ligoje |
| EOMESeomesodermin | Dažnai (30–79%) | 1 ligoje |
| FBXO22F-box protein 22 | Dažnai (30–79%) | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Dažnai (30–79%) | 1 ligoje |
| FRMD4AFERM domain containing 4A | Dažnai (30–79%) | 2 ligose |
| GON4Lgon-4 like | Dažnai (30–79%) | 1 ligoje |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Dažnai (30–79%) | 2 ligose |
| GTF3C3general transcription factor IIIC subunit 3 | Dažnai (30–79%) | 1 ligoje |
| HIVEP2HIVEP zinc finger 2 | Dažnai (30–79%) | 1 ligoje |
| ITGAVintegrin subunit alpha V | Dažnai (30–79%) | 1 ligoje |
| KICS2KICSTOR subunit 2 | Dažnai (30–79%) | 1 ligoje |
| MAU2MAU2 sister chromatid cohesion factor | Dažnai (30–79%) | 1 ligoje |
| NSFN-ethylmaleimide sensitive factor, vesicle fusing ATPase | Dažnai (30–79%) | 1 ligoje |
| RNF2ring finger protein 2 | Dažnai (30–79%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Dažnai (30–79%) | 1 ligoje |
| SLC1A4solute carrier family 1 member 4 | Dažnai (30–79%) | 1 ligoje |
| SLC25A12solute carrier family 25 member 12 | Dažnai (30–79%) | 1 ligoje |
| SMC3structural maintenance of chromosomes 3 | Dažnai (30–79%) | 1 ligoje |
| SNAPINSNAP associated protein | Dažnai (30–79%) | 1 ligoje |
| TBL1XR1TBL1X/Y related 1 | Dažnai (30–79%) | 1 ligoje |
| TRAPPC12trafficking protein particle complex subunit 12 | Dažnai (30–79%) | 1 ligoje |
| TRIOtrio Rho guanine nucleotide exchange factor | Dažnai (30–79%) | 1 ligoje |
| TSEN54tRNA splicing endonuclease subunit 54 | Dažnai (30–79%) | 1 ligoje |
| VAC14VAC14 component of PIKFYVE complex | Dažnai (30–79%) | 1 ligoje |
| VPS4Avacuolar protein sorting 4 homolog A | Dažnai (30–79%) | 1 ligoje |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Dažnai (30–79%) | 1 ligoje |
| AFG2AAAA ATPase AFG2A | Kartais (5–29%) | 1 ligoje |
| CDK4cyclin dependent kinase 4 | Kartais (5–29%) | 1 ligoje |
| IFIH1interferon induced with helicase C domain 1 | Kartais (5–29%) | 1 ligoje |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Kartais (5–29%) | 1 ligoje |
| MED16mediator complex subunit 16 | Kartais (5–29%) | 1 ligoje |
| TBCDtubulin folding cofactor D | Kartais (5–29%) | 1 ligoje |
| TUBB3tubulin beta 3 class III | Kartais (5–29%) | 1 ligoje |
| WDR83OSWD repeat domain 83 opposite strand | Kartais (5–29%) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Kartais (5–29%) | 2 ligose |
| MECP2methyl-CpG binding protein 2 | Retai (1–4 %) | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Platesni požymiai
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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