Tunnus
Abnormality of fingers or toes
Kliiniline nimetus: Abnormal digit morphology
A morphological abnormality of a digit, i.e., of a finger or toe.
Kokkuvõte
- Teised nimetused
- Abnormality of digit, Digital anomalies
Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/abnormal-digit-morphology.json"
page <- fromJSON(url)
page$trait$nameLugege välja geenid, mis on seotud Abnormality of fingers or toes-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test16 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.
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 7 of these genesFOXA2GLI2HESX1LHX4OTX2POU1F1About this report →
- Bent Bone Dysplasia Syndrome (FGFR2)Reads 1 of these genesFGFR2About this report →
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
- Nail-Patella SyndromeReads 1 of these genesLMX1BAbout this report →
Show 12 more reports
- Hypogonadotropic HypogonadismReads 6 of these genesFOXA2HESX1LHX4OTX2POU1F1PROP1About this report →
- Hereditary Vascular MalformationsReads 1 of these genesGLMNAbout this report →
- Syndromic CraniosynostosisReads 2 of these genesFGFR2FGFR3About this report →
- HyperinsulinismReads 1 of these genesFOXA2About this report →
- Inherited IchthyosesReads 1 of these genesNSDHLAbout this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesOTX2About this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesFIG4About this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesFIG4About this report →
- Congenital Disorders of GlycosylationReads 1 of these genesCHSY1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 1 of these genesFIG4About this report →
- Intellectual DisabilityReads 1 of these genesNSDHLAbout this report →
- Inherited Neurodegenerative DisordersReads 1 of these genesFIG4About this report →
Lugege välja geenid, mis on seotud Abnormality of fingers or toes-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test15 geeni on seotud tunnusega Abnormality of fingers or toes
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Abnormality of fingers or toes. 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 |
|---|---|---|
| CHSY1chondroitin sulfate synthase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LMX1BLIM homeobox transcription factor 1 beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| FGF10fibroblast growth factor 10 | Sageli (30–79%) | Esineb 1 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| GLMNglomulin, FKBP associated protein | Sageli (30–79%) | Esineb 1 haiguses |
| FIG4FIG4 phosphoinositide 5-phosphatase | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXA2forkhead box A2 | Harva (1–4%) | Esineb 1 haiguses |
| GLI2GLI family zinc finger 2 | Harva (1–4%) | Esineb 1 haiguses |
| HESX1HESX homeobox 1 | Harva (1–4%) | Esineb 1 haiguses |
| LHX4LIM homeobox 4 | Harva (1–4%) | Esineb 1 haiguses |
| OTX2orthodenticle homeobox 2 | Harva (1–4%) | Esineb 1 haiguses |
| POU1F1POU class 1 homeobox 1 | Harva (1–4%) | Esineb 1 haiguses |
| PROP1PROP paired-like homeobox 1 | Harva (1–4%) | Esineb 1 haiguses |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | 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
- Curvature of digit201 geeni
- Webbed fingers or toes159 geeni
- Clubbing of fingers and toes103 geeni
- More than five fingers or toes on hands or feet69 geeni
- Oligodactyly28 geeni
- Abnormalities of the fingers22 geeni
- Short digit15 geeni
- Abnormalities of the toes11 geeni
- Wide digital bones10 geeni
- Finger overgrowth4 geeni
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 2026.10.18-8b139e39.
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Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
