Pereiti prie turinio
Naudokite savo HSA ar FSA lėšas

Požymis

Elbow flexion contracture

An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.

HPO HP:0002987

Santrauka

Taip pat vadinama
Elbow flexion contractures, Elbow flexion deformity, Fixed flexion at the elbow joint
Kūno sistema
Abnormality of limbsAbnormality of the musculoskeletal system

64 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.

Show 60 more reports

Every condition report

Vienu tyrimu sužinokite genus, susijusius su Elbow flexion contracture, ir kitą jūsų genomo dalį.

Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites

Įsigyti savo Genome Test

97 genų susiję su Elbow flexion contracture

Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Elbow flexion contracture. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.

GenasKaip dažnai pasireiškiaLigos
DSTdystoninVisada1 ligoje
EMDemerinVisada2 ligose
ERCC1ERCC excision repair 1, endonuclease non-catalytic subunitVisada1 ligoje
FBN1fibrillin 1Visada2 ligose
FBN2fibrillin 2Visada1 ligoje
FBXO28F-box protein 28Visada1 ligoje
FKBP10FKBP prolyl isomerase 10Visada1 ligoje
GNB2G protein subunit beta 2Visada1 ligoje
KLC4kinesin light chain 4Visada1 ligoje
KYkyphoscoliosis peptidaseVisada1 ligoje
LAMA2laminin subunit alpha 2Visada1 ligoje
LARGE1LARGE xylosyl- and glucuronyltransferase 1Visada1 ligoje
LGI4leucine rich repeat LGI family member 4Visada1 ligoje
LMNAlamin A/CVisada4 ligose
PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3Visada1 ligoje
PSTPIP1proline-serine-threonine phosphatase interacting protein 1Visada1 ligoje
PYCR1pyrroline-5-carboxylate reductase 1Visada1 ligoje
RMRPRNA component of mitochondrial RNA processing endoribonucleaseVisada1 ligoje
SCARF2scavenger receptor class F member 2Visada1 ligoje
TBX15T-box transcription factor 15Visada1 ligoje
TOR1Atorsin family 1 member AVisada1 ligoje
ERLIN2ER lipid raft associated 2Labai dažnai (80–99%)2 ligose
ACTA1actin alpha 1, skeletal muscleDažnai (30–79%)2 ligose
CAPN3calpain 3Dažnai (30–79%)1 ligoje
COL12A1collagen type XII alpha 1 chainDažnai (30–79%)3 ligose
COL25A1collagen type XXV alpha 1 chainDažnai (30–79%)1 ligoje
COL6A1collagen type VI alpha 1 chainDažnai (30–79%)2 ligose
COL6A2collagen type VI alpha 2 chainDažnai (30–79%)2 ligose
COL6A3collagen type VI alpha 3 chainDažnai (30–79%)2 ligose
ERGIC1endoplasmic reticulum-golgi intermediate compartment 1Dažnai (30–79%)1 ligoje
FDFT1farnesyl-diphosphate farnesyltransferase 1Dažnai (30–79%)1 ligoje
FLNAfilamin ADažnai (30–79%)2 ligose
GNSglucosamine (N-acetyl)-6-sulfataseDažnai (30–79%)1 ligoje
HS2ST1heparan sulfate 2-O-sulfotransferase 1Dažnai (30–79%)1 ligoje
LIFRLIF receptor subunit alphaDažnai (30–79%)2 ligose
LMX1BLIM homeobox transcription factor 1 betaDažnai (30–79%)1 ligoje
MAP3K7mitogen-activated protein kinase kinase kinase 7Dažnai (30–79%)1 ligoje
MYH3myosin heavy chain 3Dažnai (30–79%)2 ligose
MYL1myosin light chain 1Dažnai (30–79%)1 ligoje
MYL11myosin light chain 11Dažnai (30–79%)1 ligoje
Rodyti dar 57 genų
GenasKaip dažnai pasireiškiaLigos
NALCNsodium leak channel, non-selectiveDažnai (30–79%)1 ligoje
PIGAphosphatidylinositol glycan anchor biosynthesis class ADažnai (30–79%)1 ligoje
PIGYphosphatidylinositol glycan anchor biosynthesis class YDažnai (30–79%)1 ligoje
PORcytochrome p450 oxidoreductaseDažnai (30–79%)1 ligoje
RNU4ATACRNA, U4atac small nuclearDažnai (30–79%)2 ligose
SCYL2SCY1 like pseudokinase 2Dažnai (30–79%)1 ligoje
SELENONselenoprotein NDažnai (30–79%)2 ligose
SLC26A2solute carrier family 26 member 2Dažnai (30–79%)2 ligose
SVILsupervillinDažnai (30–79%)1 ligoje
SYNE1spectrin repeat containing nuclear envelope protein 1Dažnai (30–79%)1 ligoje
SYNE2spectrin repeat containing nuclear envelope protein 2Dažnai (30–79%)1 ligoje
TBX3T-box transcription factor 3Dažnai (30–79%)1 ligoje
TMEM43transmembrane protein 43Dažnai (30–79%)1 ligoje
UBA1ubiquitin like modifier activating enzyme 1Dažnai (30–79%)1 ligoje
WNT7AWnt family member 7ADažnai (30–79%)1 ligoje
ALDH18A1aldehyde dehydrogenase 18 family member A1Kartais (5–29%)1 ligoje
ANO5anoctamin 5Kartais (5–29%)1 ligoje
DDR2discoidin domain receptor tyrosine kinase 2Kartais (5–29%)2 ligose
EXTL3exostosin like glycosyltransferase 3Kartais (5–29%)1 ligoje
FHL1four and a half LIM domains 1Kartais (5–29%)1 ligoje
GLDNgliomedinKartais (5–29%)1 ligoje
HACD13-hydroxyacyl-CoA dehydratase 1Kartais (5–29%)1 ligoje
ITGA7integrin subunit alpha 7Kartais (5–29%)1 ligoje
JAG2jagged canonical Notch ligand 2Kartais (5–29%)1 ligoje
KIF22kinesin family member 22Kartais (5–29%)1 ligoje
MAP3K20mitogen-activated protein kinase kinase kinase 20Kartais (5–29%)1 ligoje
MYL2myosin light chain 2Kartais (5–29%)1 ligoje
RSPO2R-spondin 2Kartais (5–29%)1 ligoje
SCN4Asodium voltage-gated channel alpha subunit 4Kartais (5–29%)1 ligoje
SLC25A46solute carrier family 25 member 46Kartais (5–29%)1 ligoje
SLC39A8solute carrier family 39 member 8Kartais (5–29%)1 ligoje
SYT2synaptotagmin 2Kartais (5–29%)1 ligoje
TMEM222transmembrane protein 222Kartais (5–29%)1 ligoje
TPM2tropomyosin 2Kartais (5–29%)2 ligose
TPM3tropomyosin 3Kartais (5–29%)1 ligoje
TRPV4transient receptor potential cation channel subfamily V member 4Kartais (5–29%)2 ligose
DMDdystrophinRetai (1–4 %)1 ligoje
PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1Retai (1–4 %)1 ligoje
ATRATR checkpoint kinaseNeužfiksuota1 ligoje
B3GAT3beta-1,3-glucuronyltransferase 3Neužfiksuota1 ligoje
CHST3carbohydrate sulfotransferase 3Neužfiksuota1 ligoje
CPT2carnitine palmitoyltransferase 2Neužfiksuota1 ligoje
CRLF1cytokine receptor like factor 1Neužfiksuota1 ligoje
ECEL1endothelin converting enzyme like 1Neužfiksuota1 ligoje
ERCC6ERCC excision repair 6, chromatin remodeling factorNeužfiksuota1 ligoje
ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2Neužfiksuota1 ligoje
GJB2gap junction protein beta 2Neužfiksuota1 ligoje
NIPBLNIPBL cohesin loading factorNeužfiksuota1 ligoje
PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alphaNeužfiksuota1 ligoje
PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2Neužfiksuota1 ligoje
PSMB8proteasome 20S subunit beta 8Neužfiksuota1 ligoje
PTDSS1phosphatidylserine synthase 1Neužfiksuota1 ligoje
SLC29A3solute carrier family 29 member 3Neužfiksuota1 ligoje
SLC6A9solute carrier family 6 member 9Neužfiksuota1 ligoje
SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1Neužfiksuota1 ligoje
SPRTNSprT-like N-terminal domainNeužfiksuota1 ligoje
TFAP2Atranscription factor AP-2 alphaNeužfiksuota1 ligoje

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Platesni požymiai

Elbow contractureLimited elbow movement

Iš kur tai žinoma

  • Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
  • Duomenų leidimas 2026.10.19-9814e911.

From traits to your genome

Read the genes behind these traits in your own DNA.

The Genome Test sequences nearly all of your DNA, not a preset panel, so every gene on these pages is in your data. Premium adds 810+ physician-ready reports.

Nuo 449 $

Nemokamas pristatymas · Rezultatai per 6–8 savaites

Get my Genome TestSee the condition reports