AtlasTunnus
Absent nails
Kliiniline nimetus: Anonychia
Aplasia of the nail.
Kokkuvõte
- Teised nimetused
- Aplastic nails
- Kehasüsteem
- Abnormality of the integument
AtlasSelle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/anonychia.json"
page <- fromJSON(url)
page$trait$nameLugege välja geenid, mis on seotud Absent nails-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test33 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Epidermolysis BullosaReads 9 of these genesDSPCOL17A1COL7A1ITGB4LAMA3LAMB3About this report →
- DOORS SyndromeReads 2 of these genesATP6V1B2TBC1D24About this report →
- Cenani-Lenz Syndactyly SyndromeReads 1 of these genesLRP4About this report →
- Focal Dermal Hypoplasia (Goltz Syndrome)Reads 1 of these genesPORCNAbout this report →
Show 29 more reports
- Hand-Foot-Genital SyndromeReads 1 of these genesHOXA13About this report →
- KCNH1-Related DisorderReads 1 of these genesKCNH1About this report →
- Nail-Patella SyndromeReads 1 of these genesLMX1BAbout this report →
- NOG-Related Symphalangism Spectrum DisorderReads 1 of these genesNOGAbout this report →
- PLEC-Related Epidermolysis Bullosa and Muscular DystrophyReads 1 of these genesPLECAbout this report →
- Primrose SyndromeReads 1 of these genesZBTB20About this report →
- Ectodermal DysplasiasReads 3 of these genesGJB6TP63WNT10AAbout this report →
- Darier and Hailey-Hailey DiseaseReads 1 of these genesATP2A2About this report →
- Fontaine Progeroid SyndromeReads 1 of these genesSLC25A24About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 4 of these genesDSPGJB6GRHL2WNT10AAbout this report →
- Van der Woude and Popliteal Pterygium Syndromes (IRF6)Reads 1 of these genesRIPK4About this report →
- Multiple Synostoses Syndrome (FGF9)Reads 1 of these genesNOGAbout this report →
- Hereditary Corneal DystrophiesReads 2 of these genesCOL17A1GRHL2About this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesACTG2About this report →
- Congenital Myasthenic SyndromeReads 2 of these genesLRP4PLECAbout this report →
- Hypodontia and AnodontiaReads 1 of these genesWNT10AAbout this report →
- Hearing Loss and DeafnessReads 3 of these genesGJB6GRHL2TBC1D24About this report →
- Arrhythmogenic CardiomyopathyReads 1 of these genesDSPAbout this report →
- Coffin-Siris SyndromeReads 1 of these genesARID1BAbout this report →
- Amelogenesis ImperfectaReads 1 of these genesLAMB3About this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesFIG4About this report →
- Diabetes MellitusReads 1 of these genesZBTB20About this report →
- Limb-Girdle Muscular DystrophyReads 1 of these genesPLECAbout this report →
- Epilepsy (Full Panel)Reads 2 of these genesATP6V1B2TBC1D24About this report →
- Female InfertilityReads 1 of these genesTP63About this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesFIG4About this report →
- Rare Hereditary Peripheral NeuropathiesReads 1 of these genesFIG4About this report →
- Intellectual DisabilityReads 1 of these genesARID1BAbout this report →
- Inherited Neurodegenerative DisordersReads 1 of these genesFIG4About this report →
Lugege välja geenid, mis on seotud Absent nails-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test33 geeni on seotud tunnusega Absent nails
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Absent nails. 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 |
|---|---|---|
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Alati | Esineb 1 haiguses |
| DSPdesmoplakin | Alati | Esineb 1 haiguses |
| HOXA13homeobox A13 | Alati | Esineb 1 haiguses |
| RBBP8RB binding protein 8, endonuclease | Alati | Esineb 1 haiguses |
| RSPO4R-spondin 4 | Alati | Esineb 1 haiguses |
| LRP4LDL receptor related protein 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL17A1collagen type XVII alpha 1 chain | Sageli (30–79%) | Esineb 2 haiguses |
| COL7A1collagen type VII alpha 1 chain | Sageli (30–79%) | Esineb 5 haiguses |
| FIG4FIG4 phosphoinositide 5-phosphatase | Sageli (30–79%) | Esineb 1 haiguses |
| ITGB4integrin subunit beta 4 | Sageli (30–79%) | Esineb 2 haiguses |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| LAMA3laminin subunit alpha 3 | Sageli (30–79%) | Esineb 2 haiguses |
| LAMB3laminin subunit beta 3 | Sageli (30–79%) | Esineb 2 haiguses |
| LAMC2laminin subunit gamma 2 | Sageli (30–79%) | Esineb 2 haiguses |
| MMP1matrix metallopeptidase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ZBTB20zinc finger and BTB domain containing 20 | Sageli (30–79%) | Esineb 1 haiguses |
| ACTG2actin gamma 2, smooth muscle | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GJB6gap junction protein beta 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PORCNporcupine O-acyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC25A24solute carrier family 25 member 24 | Harva (1–4%) | Esineb 1 haiguses |
| ARID1BAT-rich interaction domain 1B | Pole registreeritud | Esineb 1 haiguses |
| GRHL2grainyhead like transcription factor 2 | Pole registreeritud | Esineb 1 haiguses |
| ITGA6integrin subunit alpha 6 | Pole registreeritud | Esineb 1 haiguses |
| LMX1BLIM homeobox transcription factor 1 beta | Pole registreeritud | Esineb 1 haiguses |
| NOGnoggin | Pole registreeritud | Esineb 1 haiguses |
| PLECplectin | Pole registreeritud | Esineb 1 haiguses |
| RIPK4receptor interacting serine/threonine kinase 4 | Pole registreeritud | Esineb 1 haiguses |
| ROR2ROR family WNT receptor 2 | Pole registreeritud | Esineb 1 haiguses |
| TBC1D24TBC1 domain family member 24 | Pole registreeritud | Esineb 1 haiguses |
| TP63tumor protein p63 | Pole registreeritud | Esineb 1 haiguses |
| WNT10AWnt family member 10A | Pole registreeritud | Esineb 1 haiguses |
| WNT7AWnt family member 7A | Pole registreeritud | Esineb 2 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 2026.10.19-9814e911.
AtlasFrom traits to your genome
Read the genes behind these traits in your own DNA.
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Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
