Požymis
Development of small head that was not present at birth
Klinikinis pavadinimas: Secondary microcephaly
Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.
Santrauka
- Taip pat vadinama
- Acquired microcephaly, Deceleration of head growth, Microcephaly, acquired, Microcephaly, postnatal, Postnatal deceleration of head circumference, Postnatal microcephaly
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test155 genų susiję su Development of small head that was not present at birth
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Development of small head that was not 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 |
|---|---|---|
| ADAM22ADAM metallopeptidase domain 22 | Visada | 1 ligoje |
| AMPD2adenosine monophosphate deaminase 2 | Visada | 1 ligoje |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Visada | 1 ligoje |
| ASPNATaspartate N-acetyltransferase | Visada | 1 ligoje |
| ATP5POATP synthase peripheral stalk subunit OSCP | Visada | 1 ligoje |
| BORCS8BLOC-1 related complex subunit 8 | Visada | 1 ligoje |
| BRAT1BRCA1 associated ATM activator 1 | Visada | 1 ligoje |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Visada | 1 ligoje |
| CDK4cyclin dependent kinase 4 | Visada | 1 ligoje |
| COG2component of oligomeric golgi complex 2 | Visada | 2 ligose |
| COG8component of oligomeric golgi complex 8 | Visada | 1 ligoje |
| DNM1dynamin 1 | Visada | 1 ligoje |
| DNM1Ldynamin 1L | Visada | 1 ligoje |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Visada | 1 ligoje |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Visada | 1 ligoje |
| FDXRferredoxin reductase | Visada | 1 ligoje |
| FGF12fibroblast growth factor 12 | Visada | 1 ligoje |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Visada | 1 ligoje |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Visada | 1 ligoje |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Visada | 1 ligoje |
| GCSHglycine cleavage system protein H | Visada | 1 ligoje |
| GINS3GINS complex subunit 3 | Visada | 1 ligoje |
| GLSglutaminase | Visada | 1 ligoje |
| GON4Lgon-4 like | Visada | 1 ligoje |
| GPT2glutamic--pyruvic transaminase 2 | Visada | 1 ligoje |
| GTF3C3general transcription factor IIIC subunit 3 | Visada | 1 ligoje |
| GTPBP2GTP binding protein 2 | Visada | 1 ligoje |
| HSPD1heat shock protein family D (Hsp60) member 1 | Visada | 1 ligoje |
| IARS1isoleucyl-tRNA synthetase 1 | Visada | 1 ligoje |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Visada | 1 ligoje |
| JAM3junctional adhesion molecule 3 | Visada | 1 ligoje |
| JKAMPJNK1/MAPK8 associated membrane protein | Visada | 1 ligoje |
| KIF5Ckinesin family member 5C | Visada | 1 ligoje |
| MED17mediator complex subunit 17 | Visada | 1 ligoje |
| MFFmitochondrial fission factor | Visada | 2 ligose |
| MOCS3molybdenum cofactor synthesis 3 | Visada | 1 ligoje |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Visada | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Visada | 1 ligoje |
| PTRH2peptidyl-tRNA hydrolase 2 | Visada | 2 ligose |
| PYCR2pyrroline-5-carboxylate reductase 2 | Visada | 1 ligoje |
Rodyti dar 115 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| RAB18RAB18, member RAS oncogene family | Visada | 1 ligoje |
| RAP1BRAP1B, member of RAS oncogene family | Visada | 1 ligoje |
| RBSNrabenosyn, RAB effector | Visada | 1 ligoje |
| RFC4replication factor C subunit 4 | Visada | 1 ligoje |
| RNU2-2RNA, U2 small nuclear 2 | Visada | 1 ligoje |
| RNU6ATACRNA, U6atac small nuclear | Visada | 1 ligoje |
| SDHDsuccinate dehydrogenase complex subunit D | Visada | 1 ligoje |
| SLC25A22solute carrier family 25 member 22 | Visada | 1 ligoje |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Visada | 1 ligoje |
| TAF2TATA-box binding protein associated factor 2 | Visada | 2 ligose |
| TBC1D20TBC1 domain family member 20 | Visada | 1 ligoje |
| TBCDtubulin folding cofactor D | Visada | 2 ligose |
| TCF4transcription factor 4 | Visada | 1 ligoje |
| TM2D3TM2 domain containing 3 | Visada | 1 ligoje |
| TMEM165transmembrane protein 165 | Visada | 1 ligoje |
| TOMM7translocase of outer mitochondrial membrane 7 | Visada | 1 ligoje |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Visada | 1 ligoje |
| TRAPPC9trafficking protein particle complex subunit 9 | Visada | 1 ligoje |
| UBE3Aubiquitin protein ligase E3A | Visada | 4 ligose |
| VPS53VPS53 subunit of GARP complex | Visada | 1 ligoje |
| WARS1tryptophanyl-tRNA synthetase 1 | Visada | 1 ligoje |
| BCKDKbranched chain keto acid dehydrogenase kinase | Labai dažnai (80–99%) | 1 ligoje |
| C2orf69chromosome 2 open reading frame 69 | Labai dažnai (80–99%) | 1 ligoje |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Labai dažnai (80–99%) | 2 ligose |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Labai dažnai (80–99%) | 1 ligoje |
| EP300EP300 lysine acetyltransferase | Labai dažnai (80–99%) | 1 ligoje |
| FRA10AC1FRA10A associated CGG repeat 1 | Labai dažnai (80–99%) | 1 ligoje |
| HIKESHIheat shock protein nuclear import factor hikeshi | Labai dažnai (80–99%) | 1 ligoje |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Labai dažnai (80–99%) | 1 ligoje |
| OCA2OCA2 melanosomal transmembrane protein | Labai dažnai (80–99%) | 1 ligoje |
| PLPBPpyridoxal phosphate binding protein | Labai dažnai (80–99%) | 1 ligoje |
| SLC18A2solute carrier family 18 member A2 | Labai dažnai (80–99%) | 1 ligoje |
| UBA5ubiquitin like modifier activating enzyme 5 | Labai dažnai (80–99%) | 1 ligoje |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Labai dažnai (80–99%) | 1 ligoje |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Labai dažnai (80–99%) | 1 ligoje |
| ACTG1actin gamma 1 | Dažnai (30–79%) | 1 ligoje |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Dažnai (30–79%) | 1 ligoje |
| ATP9AATPase phospholipid transporting 9A | Dažnai (30–79%) | 1 ligoje |
| BNIP1BCL2 interacting protein 1 | Dažnai (30–79%) | 1 ligoje |
| CDKL5cyclin dependent kinase like 5 | Dažnai (30–79%) | 1 ligoje |
| CERT1ceramide transporter 1 | Dažnai (30–79%) | 1 ligoje |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Dažnai (30–79%) | 1 ligoje |
| CLPBClpB family mitochondrial disaggregase | Dažnai (30–79%) | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Dažnai (30–79%) | 1 ligoje |
| CTNNA2catenin alpha 2 | Dažnai (30–79%) | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Dažnai (30–79%) | 1 ligoje |
| EMC1ER membrane protein complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| EXOC2exocyst complex component 2 | Dažnai (30–79%) | 1 ligoje |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Dažnai (30–79%) | 1 ligoje |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Dažnai (30–79%) | 1 ligoje |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Dažnai (30–79%) | 1 ligoje |
| HIVEP2HIVEP zinc finger 2 | Dažnai (30–79%) | 1 ligoje |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Dažnai (30–79%) | 1 ligoje |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Dažnai (30–79%) | 1 ligoje |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Dažnai (30–79%) | 1 ligoje |
| MBD5methyl-CpG binding domain protein 5 | Dažnai (30–79%) | 1 ligoje |
| MECP2methyl-CpG binding protein 2 | Dažnai (30–79%) | 2 ligose |
| MICOS13mitochondrial contact site and cristae organizing system subunit 13 | Dažnai (30–79%) | 1 ligoje |
| NACC1nucleus accumbens associated 1 | Dažnai (30–79%) | 1 ligoje |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Dažnai (30–79%) | 1 ligoje |
| NEXMIFneurite extension and migration factor | Dažnai (30–79%) | 1 ligoje |
| NTNG1netrin G1 | Dažnai (30–79%) | 1 ligoje |
| PMPCBpeptidase, mitochondrial processing subunit beta | Dažnai (30–79%) | 1 ligoje |
| RNU5B-1RNA, U5B small nuclear 1 | 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 |
| SLC39A14solute carrier family 39 member 14 | Dažnai (30–79%) | 1 ligoje |
| SLC9A6solute carrier family 9 member A6 | Dažnai (30–79%) | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Dažnai (30–79%) | 1 ligoje |
| SMC3structural maintenance of chromosomes 3 | Dažnai (30–79%) | 1 ligoje |
| UBTFupstream binding transcription factor | Dažnai (30–79%) | 1 ligoje |
| UNC13Aunc-13 homolog A | Dažnai (30–79%) | 1 ligoje |
| VPS50VPS50 subunit of EARP/GARPII complex | Dažnai (30–79%) | 1 ligoje |
| WDR37WD repeat domain 37 | Dažnai (30–79%) | 1 ligoje |
| WWOXWW domain containing oxidoreductase | Dažnai (30–79%) | 1 ligoje |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Dažnai (30–79%) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Dažnai (30–79%) | 2 ligose |
| CHMP1Acharged multivesicular body protein 1A | Kartais (5–29%) | 1 ligoje |
| CLTCclathrin heavy chain | Kartais (5–29%) | 1 ligoje |
| COG6component of oligomeric golgi complex 6 | Kartais (5–29%) | 1 ligoje |
| CRLS1cardiolipin synthase 1 | Kartais (5–29%) | 1 ligoje |
| DCXdoublecortin | Kartais (5–29%) | 1 ligoje |
| DEGS1delta 4-desaturase, sphingolipid 1 | Kartais (5–29%) | 1 ligoje |
| DOLKdolichol kinase | Kartais (5–29%) | 1 ligoje |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Kartais (5–29%) | 1 ligoje |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Kartais (5–29%) | 1 ligoje |
| MED16mediator complex subunit 16 | Kartais (5–29%) | 1 ligoje |
| NGLY1N-glycanase 1 | Kartais (5–29%) | 1 ligoje |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Kartais (5–29%) | 1 ligoje |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Kartais (5–29%) | 1 ligoje |
| PRORPprotein only RNase P catalytic subunit | Kartais (5–29%) | 1 ligoje |
| PUF60poly(U) binding splicing factor 60 | Kartais (5–29%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Kartais (5–29%) | 1 ligoje |
| SATB1SATB homeobox 1 | Kartais (5–29%) | 1 ligoje |
| SRSF1serine and arginine rich splicing factor 1 | Kartais (5–29%) | 1 ligoje |
| TRAPPC12trafficking protein particle complex subunit 12 | Kartais (5–29%) | 1 ligoje |
| TRIOtrio Rho guanine nucleotide exchange factor | Kartais (5–29%) | 1 ligoje |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Kartais (5–29%) | 1 ligoje |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Neužfiksuota | 1 ligoje |
| COQ9coenzyme Q9 | Neužfiksuota | 1 ligoje |
| DHFRdihydrofolate reductase | Neužfiksuota | 1 ligoje |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Neužfiksuota | 1 ligoje |
| HTRA2HtrA serine peptidase 2 | Neužfiksuota | 1 ligoje |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Neužfiksuota | 1 ligoje |
| PLEKHG2pleckstrin homology and RhoGEF domain containing G2 | Neužfiksuota | 1 ligoje |
| PPT1palmitoyl-protein thioesterase 1 | Neužfiksuota | 1 ligoje |
| PSAT1phosphoserine aminotransferase 1 | Neužfiksuota | 1 ligoje |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Neužfiksuota | 1 ligoje |
| RUSC2RUN and SH3 domain containing 2 | Neužfiksuota | 1 ligoje |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Neužfiksuota | 1 ligoje |
| SLC12A5solute carrier family 12 member 5 | Neužfiksuota | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Neužfiksuota | 1 ligoje |
| TBC1D24TBC1 domain family member 24 | Neužfiksuota | 1 ligoje |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Neužfiksuota | 1 ligoje |
| WDR73WD repeat domain 73 | Neužfiksuota | 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.
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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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