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Tunnus
Relatively large head
Kliiniline nimetus: Relative macrocephaly
A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.
Kokkuvõte
- Teised nimetused
- Disproportionately large head, Macrocephaly, relative
Relatively large headHP:0004482
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Read the genes linked to Relatively large head, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test76 geeni on seotud tunnusega Relatively large head
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Relatively large head. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ACANaggrecan | Alati | Esineb 2 haiguses |
| ACER3alkaline ceramidase 3 | Alati | Esineb 1 haiguses |
| APC2APC regulator of Wnt signaling pathway 2 | Alati | Esineb 1 haiguses |
| AXIN1axin 1 | Alati | Esineb 1 haiguses |
| BGNbiglycan | Alati | Esineb 1 haiguses |
| CCDC22CCC complex scaffolding subunit CCDC22 | Alati | Esineb 1 haiguses |
| CILK1ciliogenesis associated kinase 1 | Alati | Esineb 1 haiguses |
| CUL7cullin 7 | Alati | Esineb 1 haiguses |
| EIF4A2eukaryotic translation initiation factor 4A2 | Alati | Esineb 1 haiguses |
| HMGA2high mobility group AT-hook 2 | Alati | Esineb 2 haiguses |
| IFT81intraflagellar transport 81 | Alati | Esineb 1 haiguses |
| IGF2insulin like growth factor 2 | Alati | Esineb 4 haiguses |
| KDM6Blysine demethylase 6B | Alati | Esineb 1 haiguses |
| KICS2KICSTOR subunit 2 | Alati | Esineb 1 haiguses |
| MARK2microtubule affinity regulating kinase 2 | Alati | Esineb 1 haiguses |
| MRASmuscle RAS oncogene homolog | Alati | Esineb 1 haiguses |
| RNU5B-1RNA, U5B small nuclear 1 | Alati | Esineb 1 haiguses |
| SERPINH1serpin family H member 1 | Alati | Esineb 1 haiguses |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Alati | Esineb 1 haiguses |
| SONSON DNA and RNA binding protein | Alati | Esineb 2 haiguses |
| SPOUT1SPOUT domain containing methyltransferase 1 | Alati | Esineb 1 haiguses |
| TNFRSF11BTNF receptor superfamily member 11b | Alati | Esineb 1 haiguses |
| VPS35LVPS35 endosomal protein sorting factor like | Alati | Esineb 1 haiguses |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Väga sageli (80–99%) | Esineb 1 haiguses |
| ITCHitchy E3 ubiquitin protein ligase | Väga sageli (80–99%) | Esineb 2 haiguses |
| KRASKRas proto-oncogene, GTPase | Väga sageli (80–99%) | Esineb 2 haiguses |
| NONOnon-POU domain containing octamer binding | Väga sageli (80–99%) | Esineb 2 haiguses |
| PLAG1PLAG1 zinc finger | Väga sageli (80–99%) | Esineb 1 haiguses |
| POLR3ARNA polymerase III subunit A | Väga sageli (80–99%) | Esineb 1 haiguses |
| AHDC1AT-hook DNA binding motif containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| APCAPC regulator of Wnt signaling pathway | Sageli (30–79%) | Esineb 1 haiguses |
| CEP120centrosomal protein 120 | Sageli (30–79%) | Esineb 1 haiguses |
| DOCK3dedicator of cytokinesis 3 | Sageli (30–79%) | Esineb 1 haiguses |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GRB10growth factor receptor bound protein 10 | Sageli (30–79%) | Esineb 1 haiguses |
| H19H19 imprinted maternally expressed transcript | Sageli (30–79%) | Esineb 2 haiguses |
| INPPL1inositol polyphosphate phosphatase like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| LAMA5laminin subunit alpha 5 | Sageli (30–79%) | Esineb 1 haiguses |
| LBRlamin B receptor | Sageli (30–79%) | Esineb 1 haiguses |
| LMNAlamin A/C | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 36 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| LZTR1leucine zipper like post translational regulator 1 | Sageli (30–79%) | Esineb 2 haiguses |
| MED12mediator complex subunit 12 | Sageli (30–79%) | Esineb 1 haiguses |
| MITFmelanocyte inducing transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| NXNnucleoredoxin | Sageli (30–79%) | Esineb 1 haiguses |
| POLR1ARNA polymerase I subunit A | Sageli (30–79%) | Esineb 1 haiguses |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| RIT1Ras like without CAAX 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SNX14sorting nexin 14 | Sageli (30–79%) | Esineb 2 haiguses |
| SOX9SRY-box transcription factor 9 | Sageli (30–79%) | Esineb 1 haiguses |
| ZMPSTE24zinc metallopeptidase STE24 | Sageli (30–79%) | Esineb 1 haiguses |
| DHCR2424-dehydrocholesterol reductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DLK1delta like non-canonical Notch ligand 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPH1diphthamide biosynthesis 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPH2diphthamide biosynthesis 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEG3maternally expressed 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLEDNA polymerase epsilon, catalytic subunit | Mõnikord (5–29%) | Esineb 2 haiguses |
| POP1POP1 ribonuclease P/MRP subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| RTL1retrotransposon Gag like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SATB2SATB homeobox 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TONSLtonsoku like, DNA repair protein | Mõnikord (5–29%) | Esineb 2 haiguses |
| USP7ubiquitin specific peptidase 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| USP9Xubiquitin specific peptidase 9 X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| XYLT1xylosyltransferase 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ZFXzinc finger protein X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Pole registreeritud | Esineb 1 haiguses |
| CUL4Bcullin 4B | Pole registreeritud | Esineb 1 haiguses |
| FHfumarate hydratase | Pole registreeritud | Esineb 1 haiguses |
| IHHIndian hedgehog signaling molecule | Pole registreeritud | Esineb 1 haiguses |
| MAP2K1mitogen-activated protein kinase kinase 1 | Pole registreeritud | Esineb 1 haiguses |
| MAP2K2mitogen-activated protein kinase kinase 2 | Pole registreeritud | Esineb 1 haiguses |
| NF1neurofibromin 1 | Pole registreeritud | Esineb 1 haiguses |
| OBSL1obscurin like cytoskeletal adaptor 1 | Pole registreeritud | Esineb 1 haiguses |
| PCGF2polycomb group ring finger 2 | Pole registreeritud | Esineb 1 haiguses |
| PTDSS1phosphatidylserine synthase 1 | Pole registreeritud | Esineb 1 haiguses |
| THRAthyroid hormone receptor alpha | Pole registreeritud | Esineb 1 haiguses |
| TRIP11thyroid hormone receptor interactor 11 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast