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Trait
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.
Summary
- Also called
- Elbow flexion contractures, Elbow flexion deformity, Fixed flexion at the elbow joint
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This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/elbow-flexion-contracture.json"
page <- fromJSON(url)
page$trait$nameElbow flexion contractureHP:0002987
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Read the genes linked to Elbow flexion contracture, and the rest of your genome, with one test.
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Get my Genome Test97 genes linked to Elbow flexion contracture
Changes in these genes cause rare conditions in which Elbow flexion contracture is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| DSTdystonin | Always | In 1 condition |
| EMDemerin | Always | In 2 conditions |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Always | In 1 condition |
| FBN1fibrillin 1 | Always | In 2 conditions |
| FBN2fibrillin 2 | Always | In 1 condition |
| FBXO28F-box protein 28 | Always | In 1 condition |
| FKBP10FKBP prolyl isomerase 10 | Always | In 1 condition |
| GNB2G protein subunit beta 2 | Always | In 1 condition |
| KLC4kinesin light chain 4 | Always | In 1 condition |
| KYkyphoscoliosis peptidase | Always | In 1 condition |
| LAMA2laminin subunit alpha 2 | Always | In 1 condition |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Always | In 1 condition |
| LGI4leucine rich repeat LGI family member 4 | Always | In 1 condition |
| LMNAlamin A/C | Always | In 4 conditions |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Always | In 1 condition |
| PSTPIP1proline-serine-threonine phosphatase interacting protein 1 | Always | In 1 condition |
| PYCR1pyrroline-5-carboxylate reductase 1 | Always | In 1 condition |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Always | In 1 condition |
| SCARF2scavenger receptor class F member 2 | Always | In 1 condition |
| TBX15T-box transcription factor 15 | Always | In 1 condition |
| TOR1Atorsin family 1 member A | Always | In 1 condition |
| ERLIN2ER lipid raft associated 2 | Very often (80–99%) | In 2 conditions |
| ACTA1actin alpha 1, skeletal muscle | Often (30–79%) | In 2 conditions |
| CAPN3calpain 3 | Often (30–79%) | In 1 condition |
| COL12A1collagen type XII alpha 1 chain | Often (30–79%) | In 3 conditions |
| COL25A1collagen type XXV alpha 1 chain | Often (30–79%) | In 1 condition |
| COL6A1collagen type VI alpha 1 chain | Often (30–79%) | In 2 conditions |
| COL6A2collagen type VI alpha 2 chain | Often (30–79%) | In 2 conditions |
| COL6A3collagen type VI alpha 3 chain | Often (30–79%) | In 2 conditions |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Often (30–79%) | In 1 condition |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Often (30–79%) | In 1 condition |
| FLNAfilamin A | Often (30–79%) | In 2 conditions |
| GNSglucosamine (N-acetyl)-6-sulfatase | Often (30–79%) | In 1 condition |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Often (30–79%) | In 1 condition |
| LIFRLIF receptor subunit alpha | Often (30–79%) | In 2 conditions |
| LMX1BLIM homeobox transcription factor 1 beta | Often (30–79%) | In 1 condition |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Often (30–79%) | In 1 condition |
| MYH3myosin heavy chain 3 | Often (30–79%) | In 2 conditions |
| MYL1myosin light chain 1 | Often (30–79%) | In 1 condition |
| MYL11myosin light chain 11 | Often (30–79%) | In 1 condition |
Show 57 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| NALCNsodium leak channel, non-selective | Often (30–79%) | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Often (30–79%) | In 1 condition |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Often (30–79%) | In 1 condition |
| PORcytochrome p450 oxidoreductase | Often (30–79%) | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Often (30–79%) | In 2 conditions |
| SCYL2SCY1 like pseudokinase 2 | Often (30–79%) | In 1 condition |
| SELENONselenoprotein N | Often (30–79%) | In 2 conditions |
| SLC26A2solute carrier family 26 member 2 | Often (30–79%) | In 2 conditions |
| SVILsupervillin | Often (30–79%) | In 1 condition |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Often (30–79%) | In 1 condition |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Often (30–79%) | In 1 condition |
| TBX3T-box transcription factor 3 | Often (30–79%) | In 1 condition |
| TMEM43transmembrane protein 43 | Often (30–79%) | In 1 condition |
| UBA1ubiquitin like modifier activating enzyme 1 | Often (30–79%) | In 1 condition |
| WNT7AWnt family member 7A | Often (30–79%) | In 1 condition |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Sometimes (5–29%) | In 1 condition |
| ANO5anoctamin 5 | Sometimes (5–29%) | In 1 condition |
| DDR2discoidin domain receptor tyrosine kinase 2 | Sometimes (5–29%) | In 2 conditions |
| EXTL3exostosin like glycosyltransferase 3 | Sometimes (5–29%) | In 1 condition |
| FHL1four and a half LIM domains 1 | Sometimes (5–29%) | In 1 condition |
| GLDNgliomedin | Sometimes (5–29%) | In 1 condition |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Sometimes (5–29%) | In 1 condition |
| ITGA7integrin subunit alpha 7 | Sometimes (5–29%) | In 1 condition |
| JAG2jagged canonical Notch ligand 2 | Sometimes (5–29%) | In 1 condition |
| KIF22kinesin family member 22 | Sometimes (5–29%) | In 1 condition |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Sometimes (5–29%) | In 1 condition |
| MYL2myosin light chain 2 | Sometimes (5–29%) | In 1 condition |
| RSPO2R-spondin 2 | Sometimes (5–29%) | In 1 condition |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Sometimes (5–29%) | In 1 condition |
| SLC25A46solute carrier family 25 member 46 | Sometimes (5–29%) | In 1 condition |
| SLC39A8solute carrier family 39 member 8 | Sometimes (5–29%) | In 1 condition |
| SYT2synaptotagmin 2 | Sometimes (5–29%) | In 1 condition |
| TMEM222transmembrane protein 222 | Sometimes (5–29%) | In 1 condition |
| TPM2tropomyosin 2 | Sometimes (5–29%) | In 2 conditions |
| TPM3tropomyosin 3 | Sometimes (5–29%) | In 1 condition |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Sometimes (5–29%) | In 2 conditions |
| DMDdystrophin | Rarely (1–4%) | In 1 condition |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Rarely (1–4%) | In 1 condition |
| ATRATR checkpoint kinase | Not recorded | In 1 condition |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Not recorded | In 1 condition |
| CHST3carbohydrate sulfotransferase 3 | Not recorded | In 1 condition |
| CPT2carnitine palmitoyltransferase 2 | Not recorded | In 1 condition |
| CRLF1cytokine receptor like factor 1 | Not recorded | In 1 condition |
| ECEL1endothelin converting enzyme like 1 | Not recorded | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Not recorded | In 1 condition |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Not recorded | In 1 condition |
| GJB2gap junction protein beta 2 | Not recorded | In 1 condition |
| NIPBLNIPBL cohesin loading factor | Not recorded | In 1 condition |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Not recorded | In 1 condition |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | Not recorded | In 1 condition |
| PSMB8proteasome 20S subunit beta 8 | Not recorded | In 1 condition |
| PTDSS1phosphatidylserine synthase 1 | Not recorded | In 1 condition |
| SLC29A3solute carrier family 29 member 3 | Not recorded | In 1 condition |
| SLC6A9solute carrier family 6 member 9 | Not recorded | In 1 condition |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Not recorded | In 1 condition |
| SPRTNSprT-like N-terminal domain | Not recorded | In 1 condition |
| TFAP2Atranscription factor AP-2 alpha | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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One test. A lifetime of answers.
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