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Tunnus
Broad philtrum
Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum.
Kokkuvõte
- Teised nimetused
- Increased breadth of philtrum, Increased horizontal dimension of philtrum, Increased transverse dimension of philtrum, Increased width of philtrum, Wide philtrum
- Kehasüsteem
- Abnormality of head or neck
Broad philtrumHP:0000289
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Read the genes linked to Broad philtrum, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test49 geeni on seotud tunnusega Broad philtrum
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Broad philtrum. 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 |
|---|---|---|
| ALX4ALX homeobox 4 | Alati | Esineb 2 haiguses |
| CDH11cadherin 11 | Alati | Esineb 1 haiguses |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Alati | Esineb 1 haiguses |
| MSL2MSL complex subunit 2 | Alati | Esineb 1 haiguses |
| ROBO1roundabout guidance receptor 1 | Alati | Esineb 1 haiguses |
| TAF4TATA-box binding protein associated factor 4 | Alati | Esineb 1 haiguses |
| UNC13Aunc-13 homolog A | Alati | Esineb 1 haiguses |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TMCO1transmembrane and coiled-coil domains 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ANO1anoctamin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ARID1AAT-rich interaction domain 1A | Sageli (30–79%) | Esineb 1 haiguses |
| ARID1BAT-rich interaction domain 1B | Sageli (30–79%) | Esineb 1 haiguses |
| ARID2AT-rich interaction domain 2 | Sageli (30–79%) | Esineb 1 haiguses |
| DPF2double PHD fingers 2 | Sageli (30–79%) | Esineb 2 haiguses |
| KCNK9potassium two pore domain channel subfamily K member 9 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Sageli (30–79%) | Esineb 1 haiguses |
| SOX11SRY-box transcription factor 11 | Sageli (30–79%) | Esineb 1 haiguses |
| SOX4SRY-box transcription factor 4 | Sageli (30–79%) | Esineb 1 haiguses |
| TBL1XR1TBL1X/Y related 1 | Sageli (30–79%) | Esineb 2 haiguses |
| ZNF462zinc finger protein 462 | Sageli (30–79%) | Esineb 2 haiguses |
| AHDC1AT-hook DNA binding motif containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERMARDER membrane associated RNA degradation | Mõnikord (5–29%) | Esineb 1 haiguses |
| KMT2Dlysine methyltransferase 2D | Mõnikord (5–29%) | Esineb 1 haiguses |
| MARK2microtubule affinity regulating kinase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PGAP2post-GPI attachment to proteins 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Mõnikord (5–29%) | Esineb 1 haiguses |
| SNX14sorting nexin 14 | Mõnikord (5–29%) | Esineb 2 haiguses |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Harva (1–4%) | Esineb 1 haiguses |
| CHD2chromodomain helicase DNA binding protein 2 | Harva (1–4%) | Esineb 1 haiguses |
| H3-3AH3.3 histone A | Harva (1–4%) | Esineb 1 haiguses |
| NEXMIFneurite extension and migration factor | Harva (1–4%) | Esineb 1 haiguses |
Näita veel 9 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| SCN1Asodium voltage-gated channel alpha subunit 1 | Harva (1–4%) | Esineb 1 haiguses |
| SLC2A1solute carrier family 2 member 1 | Harva (1–4%) | Esineb 1 haiguses |
| SLC6A1solute carrier family 6 member 1 | Harva (1–4%) | Esineb 1 haiguses |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harva (1–4%) | Esineb 1 haiguses |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| COLEC11collectin subfamily member 11 | Pole registreeritud | Esineb 1 haiguses |
| MAFMAF bZIP transcription factor | Pole registreeritud | Esineb 1 haiguses |
| RAC3Rac family small GTPase 3 | Pole registreeritud | Esineb 1 haiguses |
| WDR35WD repeat domain 35 | 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.
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Logi sisseKüsiAlustaalates 449 $
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast