Tunnus
Wide fontanelles
Kliiniline nimetus: Large fontanelles
In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms.
Kokkuvõte
- Teised nimetused
- Enlarged fontanelles, Large fontanel, Large fontanelle, Large fontanels, Persistent wide fontanel
Read the genes linked to Wide fontanelles, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test73 geeni on seotud tunnusega Wide fontanelles
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Wide fontanelles. 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 |
|---|---|---|
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Alati | Esineb 1 haiguses |
| CHST14carbohydrate sulfotransferase 14 | Alati | Esineb 2 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Alati | Esineb 2 haiguses |
| GJA1gap junction protein alpha 1 | Alati | Esineb 1 haiguses |
| INPPL1inositol polyphosphate phosphatase like 1 | Alati | Esineb 2 haiguses |
| PEX14peroxisomal biogenesis factor 14 | Alati | Esineb 1 haiguses |
| PYCR1pyrroline-5-carboxylate reductase 1 | Alati | Esineb 2 haiguses |
| RNU12RNA, U12 small nuclear | Alati | Esineb 1 haiguses |
| ATP7AATPase copper transporting alpha | Väga sageli (80–99%) | Esineb 1 haiguses |
| DSEdermatan sulfate epimerase | Väga sageli (80–99%) | Esineb 1 haiguses |
| FAM20CFAM20C golgi associated secretory pathway kinase | Väga sageli (80–99%) | Esineb 2 haiguses |
| FIG4FIG4 phosphoinositide 5-phosphatase | Väga sageli (80–99%) | Esineb 1 haiguses |
| FLNAfilamin A | Väga sageli (80–99%) | Esineb 1 haiguses |
| FOXE1forkhead box E1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HPGD15-hydroxyprostaglandin dehydrogenase | Väga sageli (80–99%) | Esineb 2 haiguses |
| LMNAlamin A/C | Väga sageli (80–99%) | Esineb 1 haiguses |
| MVKmevalonate kinase | Väga sageli (80–99%) | Esineb 2 haiguses |
| NKX2-1NK2 homeobox 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NKX2-5NK2 homeobox 5 | Väga sageli (80–99%) | Esineb 3 haiguses |
| PAX8paired box 8 | Väga sageli (80–99%) | Esineb 3 haiguses |
| PTDSS1phosphatidylserine synthase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| RECQL4RecQ like helicase 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| RUNX2RUNX family transcription factor 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SEC23ASEC23 homolog A, COPII component | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC26A4solute carrier family 26 member 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TSHRthyroid stimulating hormone receptor | Väga sageli (80–99%) | Esineb 2 haiguses |
| ZMPSTE24zinc metallopeptidase STE24 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ZSWIM6zinc finger SWIM-type containing 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ACTBactin beta | Sageli (30–79%) | Esineb 1 haiguses |
| ACTG1actin gamma 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ADAMTSL2ADAMTS like 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Sageli (30–79%) | Esineb 1 haiguses |
| AMER1APC membrane recruitment protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| CAV1caveolin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| COL1A1collagen type I alpha 1 chain | Sageli (30–79%) | Esineb 2 haiguses |
| COL1A2collagen type I alpha 2 chain | Sageli (30–79%) | Esineb 2 haiguses |
| CTNNB1catenin beta 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DCHS1dachsous cadherin-related 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FAT4FAT atypical cadherin 4 | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 33 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| LTBP4latent transforming growth factor beta binding protein 4 | Sageli (30–79%) | Esineb 1 haiguses |
| MAFMAF bZIP transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| NSD1nuclear receptor binding SET domain protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Sageli (30–79%) | Esineb 1 haiguses |
| SHPKsedoheptulokinase | Sageli (30–79%) | Esineb 1 haiguses |
| ACTA1actin alpha 1, skeletal muscle | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASXL3ASXL transcriptional regulator 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLCN3Cl-/H+ antiporter 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HNF1BHNF1 homeobox B | Mõnikord (5–29%) | Esineb 1 haiguses |
| HOXD13homeobox D13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KLHL40kelch like family member 40 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KLHL41kelch like family member 41 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LHX1LIM homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMOD3leiomodin 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MID1midline 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEBnebulin | Mõnikord (5–29%) | Esineb 2 haiguses |
| NPHP3nephrocystin 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RBM10RNA binding motif protein 10 | Mõnikord (5–29%) | Esineb 2 haiguses |
| RBMXRNA binding motif protein X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| USP7ubiquitin specific peptidase 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harva (1–4%) | Esineb 1 haiguses |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Pole registreeritud | Esineb 1 haiguses |
| BMPERBMP binding endothelial regulator | Pole registreeritud | Esineb 1 haiguses |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Pole registreeritud | Esineb 1 haiguses |
| GNPATglyceronephosphate O-acyltransferase | Pole registreeritud | Esineb 1 haiguses |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Pole registreeritud | Esineb 1 haiguses |
| IGF2insulin like growth factor 2 | Pole registreeritud | Esineb 1 haiguses |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Pole registreeritud | Esineb 1 haiguses |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Pole registreeritud | Esineb 1 haiguses |
| PAM16presequence translocase associated motor 16 | Pole registreeritud | Esineb 1 haiguses |
| PEX13peroxisomal biogenesis factor 13 | Pole registreeritud | Esineb 1 haiguses |
| PEX2peroxisomal biogenesis factor 2 | Pole registreeritud | Esineb 1 haiguses |
| PEX5peroxisomal biogenesis factor 5 | 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.
Kitsamad tunnused
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.
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Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast