Tunnus
Claw hand deformity
An abnormality of the hand characterized by metacarpophalangeal (MCP) hyperextension and proximal interphalangeal (PIP) and distal interphalangeal (DIP) flexion. The position of the affected hand is said to resemble a claw.
Kokkuvõte
Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/claw-hand-deformity.json"
page <- fromJSON(url)
page$trait$nameLugege välja geenid, mis on seotud Claw hand deformity-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test15 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.
- Mucolipidoses (ML II, ML III and ML IV)Reads 2 of these genesGNPTABGNPTGAbout this report →
- Charcot-Marie-Tooth DiseaseReads 6 of these genesSPTAN1HSPB1NDRG1SIGMAR1HK1INF2About this report →
- Rare Hereditary Peripheral NeuropathiesReads 7 of these genesSPTAN1HSPB1NDRG1PDXKSIGMAR1HK1About this report →
- Spinal Muscular AtrophyReads 2 of these genesSPTAN1SIGMAR1About this report →
Show 11 more reports
- GlomerulosclerosisReads 1 of these genesINF2About this report →
- Pyruvate Kinase Deficiency and Other Red Cell Enzyme DisordersReads 1 of these genesHK1About this report →
- Focal Segmental GlomerulosclerosisReads 1 of these genesINF2About this report →
- HyperinsulinismReads 1 of these genesHK1About this report →
- Lysosomal Storage DiseaseReads 2 of these genesGNPTABGNPTGAbout this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesSIGMAR1About this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesSPTAN1About this report →
- Retinitis PigmentosaReads 1 of these genesHK1About this report →
- Inherited Neurodegenerative DisordersReads 2 of these genesSPTAN1SIGMAR1About this report →
- Congenital Disorders of GlycosylationReads 1 of these genesCOG8About this report →
- Epilepsy (Full Panel)Reads 1 of these genesSPTAN1About this report →
Lugege välja geenid, mis on seotud Claw hand deformity-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test10 geeni on seotud tunnusega Claw hand deformity
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Claw hand deformity. 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 |
|---|---|---|
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Alati | Esineb 1 haiguses |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Alati | Esineb 1 haiguses |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Alati | Esineb 1 haiguses |
| COG8component of oligomeric golgi complex 8 | Sageli (30–79%) | Esineb 1 haiguses |
| HSPB1heat shock protein family B (small) member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NDRG1N-myc downstream regulated 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PDXKpyridoxal kinase | Sageli (30–79%) | Esineb 1 haiguses |
| SIGMAR1sigma receptor chaperone 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HK1hexokinase 1 | Pole registreeritud | Esineb 1 haiguses |
| INF2inverted formin 2 | 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 2026.10.19-9814e911.
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Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
