AtlasTunnus
Increased connective tissue
The presence of an abnormally increased amount of connective tissue.
Kokkuvõte
- Kehasüsteem
- Abnormality of the musculoskeletal system
AtlasSelle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/increased-connective-tissue.json"
page <- fromJSON(url)
page$trait$nameLugege välja geenid, mis on seotud Increased connective tissue-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test23 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.
- Congenital MyopathiesReads 6 of these genesACTA1KLHL40KLHL41LMOD3NEBRYR1About this report →
- PLEC-Related Epidermolysis Bullosa and Muscular DystrophyReads 1 of these genesPLECAbout this report →
- Limb-Girdle Muscular DystrophyReads 5 of these genesLAMA2ANO5DYSFPLECTCAPAbout this report →
- Malignant Hyperthermia SusceptibilityReads 1 of these genesRYR1About this report →
Show 19 more reports
- Distal MyopathiesReads 2 of these genesANO5DYSFAbout this report →
- PorphyriaReads 1 of these genesUROSAbout this report →
- Familial Intrahepatic CholestasisReads 1 of these genesPSKH1About this report →
- Myofibrillar MyopathiesReads 1 of these genesRYR1About this report →
- Diamond-Blackfan AnemiaReads 1 of these genesGATA1About this report →
- Epidermolysis BullosaReads 1 of these genesPLECAbout this report →
- Charcot-Marie-Tooth DiseaseReads 2 of these genesAIFM1NEFLAbout this report →
- Ehlers-Danlos SyndromeReads 1 of these genesTNXBAbout this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesAIFM1About this report →
- Congenital Myasthenic SyndromeReads 1 of these genesPLECAbout this report →
- Congenital Muscular DystrophiesReads 1 of these genesLAMA2About this report →
- Inherited ThrombocytopeniasReads 1 of these genesGATA1About this report →
- Osteogenesis ImperfectaReads 1 of these genesANO5About this report →
- Dilated CardiomyopathyReads 1 of these genesTCAPAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 2 of these genesAIFM1NEFLAbout this report →
- Hypertrophic CardiomyopathyReads 1 of these genesTCAPAbout this report →
- Leigh SyndromeReads 1 of these genesAIFM1About this report →
- Hearing Loss and DeafnessReads 1 of these genesAIFM1About this report →
- Primary Mitochondrial DiseaseReads 1 of these genesAIFM1About this report →
Lugege välja geenid, mis on seotud Increased connective tissue-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test18 geeni on seotud tunnusega Increased connective tissue
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Increased connective tissue. 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 |
|---|---|---|
| ACTA1actin alpha 1, skeletal muscle | Alati | Esineb 2 haiguses |
| PSKH1protein serine kinase H1 | Alati | Esineb 1 haiguses |
| LAMA2laminin subunit alpha 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KLHL40kelch like family member 40 | Sageli (30–79%) | Esineb 1 haiguses |
| KLHL41kelch like family member 41 | Sageli (30–79%) | Esineb 1 haiguses |
| LMOD3leiomodin 3 | Sageli (30–79%) | Esineb 1 haiguses |
| NEBnebulin | Sageli (30–79%) | Esineb 1 haiguses |
| RYR1ryanodine receptor 1 | Sageli (30–79%) | Esineb 2 haiguses |
| GATA1GATA binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEFLneurofilament light chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| TNXBtenascin XB | Mõnikord (5–29%) | Esineb 1 haiguses |
| UROSuroporphyrinogen III synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ANO5anoctamin 5 | Pole registreeritud | Esineb 1 haiguses |
| DYSFdysferlin | Pole registreeritud | Esineb 1 haiguses |
| LIMS2LIM zinc finger domain containing 2 | Pole registreeritud | Esineb 1 haiguses |
| PLECplectin | Pole registreeritud | Esineb 1 haiguses |
| TCAPtitin-cap | 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 2026.10.19-9814e911.
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Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
