Egenskap
Flexed joint that cannot be straightened
Klinisk navn: Flexion contracture
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Sammendrag
- Også kalt
- Flexion contractures, Flexion contractures of joints
- Kroppssystem
- Abnormality of the musculoskeletal system
ReferansegenomGRCh38hg38
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Få mitt Genome Test341 gener knyttet til Flexed joint that cannot be straightened
Endringer i disse genene forårsaker sjeldne tilstander der Flexed joint that cannot be straightened forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Alltid | I 1 tilstand |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Alltid | I 1 tilstand |
| ARSBarylsulfatase B | Alltid | I 1 tilstand |
| ATP11AATPase phospholipid transporting 11A | Alltid | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Alltid | I 1 tilstand |
| BANF1barrier to autointegration nuclear assembly factor 1 | Alltid | I 1 tilstand |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Alltid | I 1 tilstand |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Alltid | I 1 tilstand |
| CLDN11claudin 11 | Alltid | I 1 tilstand |
| COL12A1collagen type XII alpha 1 chain | Alltid | I 5 tilstander |
| COL25A1collagen type XXV alpha 1 chain | Alltid | I 1 tilstand |
| DNM2dynamin 2 | Alltid | I 2 tilstander |
| DSTdystonin | Alltid | I 1 tilstand |
| ECE1endothelin converting enzyme 1 | Alltid | I 1 tilstand |
| ERGIC1endoplasmic reticulum-golgi intermediate compartment 1 | Alltid | I 1 tilstand |
| FANCCFA complementation group C | Alltid | I 1 tilstand |
| FHL1four and a half LIM domains 1 | Alltid | I 2 tilstander |
| FLNAfilamin A | Alltid | I 2 tilstander |
| FUCA1alpha-L-fucosidase 1 | Alltid | I 1 tilstand |
| GOLGA2golgin A2 | Alltid | I 1 tilstand |
| KCNK3potassium two pore domain channel subfamily K member 3 | Alltid | I 1 tilstand |
| KYkyphoscoliosis peptidase | Alltid | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Alltid | I 1 tilstand |
| MYBPC1myosin binding protein C1 | Alltid | I 2 tilstander |
| MYH3myosin heavy chain 3 | Alltid | I 1 tilstand |
| PHACTR1phosphatase and actin regulator 1 | Alltid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alltid | I 2 tilstander |
| PSMB8proteasome 20S subunit beta 8 | Alltid | I 1 tilstand |
| PSMG2proteasome assembly chaperone 2 | Alltid | I 1 tilstand |
| PTF1Apancreas associated transcription factor 1a | Alltid | I 1 tilstand |
| PYCR1pyrroline-5-carboxylate reductase 1 | Alltid | I 1 tilstand |
| RAPSNreceptor associated protein of the synapse | Alltid | I 1 tilstand |
| RIPK4receptor interacting serine/threonine kinase 4 | Alltid | I 1 tilstand |
| RNF13ring finger protein 13 | Alltid | I 2 tilstander |
| RNU6ATACRNA, U6atac small nuclear | Alltid | I 1 tilstand |
| SCYL2SCY1 like pseudokinase 2 | Alltid | I 1 tilstand |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Alltid | I 1 tilstand |
| SEC31ASEC31 homolog A, COPII component | Alltid | I 1 tilstand |
| SHPKsedoheptulokinase | Alltid | I 1 tilstand |
| TAF4TATA-box binding protein associated factor 4 | Alltid | I 1 tilstand |
Vis 301 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| TMEM63Btransmembrane protein 63B | Alltid | I 1 tilstand |
| TOP2BDNA topoisomerase II beta | Alltid | I 1 tilstand |
| TOR1Atorsin family 1 member A | Alltid | I 1 tilstand |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Alltid | I 2 tilstander |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Alltid | I 1 tilstand |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Alltid | I 2 tilstander |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Alltid | I 1 tilstand |
| ZMPSTE24zinc metallopeptidase STE24 | Alltid | I 2 tilstander |
| ZPR1ZPR1 zinc finger | Alltid | I 1 tilstand |
| ANTXR2ANTXR cell adhesion molecule 2 | Svært ofte (80–99 %) | I 1 tilstand |
| ASAH1N-acylsphingosine amidohydrolase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| ASXL1ASXL transcriptional regulator 1 | Svært ofte (80–99 %) | I 1 tilstand |
| B4GALT7beta-1,4-galactosyltransferase 7 | Svært ofte (80–99 %) | I 2 tilstander |
| CHST3carbohydrate sulfotransferase 3 | Svært ofte (80–99 %) | I 2 tilstander |
| CLCF1cardiotrophin like cytokine factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| COL6A1collagen type VI alpha 1 chain | Svært ofte (80–99 %) | I 3 tilstander |
| COL6A2collagen type VI alpha 2 chain | Svært ofte (80–99 %) | I 2 tilstander |
| COL6A3collagen type VI alpha 3 chain | Svært ofte (80–99 %) | I 2 tilstander |
| COL7A1collagen type VII alpha 1 chain | Svært ofte (80–99 %) | I 3 tilstander |
| CRLF1cytokine receptor like factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| DMDdystrophin | Svært ofte (80–99 %) | I 2 tilstander |
| ERLIN2ER lipid raft associated 2 | Svært ofte (80–99 %) | I 1 tilstand |
| FBN1fibrillin 1 | Svært ofte (80–99 %) | I 2 tilstander |
| FBN2fibrillin 2 | Svært ofte (80–99 %) | I 1 tilstand |
| FKTNfukutin | Svært ofte (80–99 %) | I 3 tilstander |
| GUSBglucuronidase beta | Svært ofte (80–99 %) | I 1 tilstand |
| KLHL40kelch like family member 40 | Svært ofte (80–99 %) | I 2 tilstander |
| LTBP4latent transforming growth factor beta binding protein 4 | Svært ofte (80–99 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Svært ofte (80–99 %) | I 2 tilstander |
| MMP1matrix metallopeptidase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ZBTB20zinc finger and BTB domain containing 20 | Svært ofte (80–99 %) | I 2 tilstander |
| ACTA1actin alpha 1, skeletal muscle | Ofte (30–79 %) | I 5 tilstander |
| ADGRG1adhesion G protein-coupled receptor G1 | Ofte (30–79 %) | I 1 tilstand |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Ofte (30–79 %) | I 1 tilstand |
| BIN1bridging integrator 1 | Ofte (30–79 %) | I 1 tilstand |
| CAPN3calpain 3 | Ofte (30–79 %) | I 2 tilstander |
| CAV1caveolin 1 | Ofte (30–79 %) | I 1 tilstand |
| CAVIN1caveolae associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CCN2cellular communication network factor 2 | Ofte (30–79 %) | I 1 tilstand |
| CCR6C-C motif chemokine receptor 6 | Ofte (30–79 %) | I 1 tilstand |
| CHRNGcholinergic receptor nicotinic gamma subunit | Ofte (30–79 %) | I 2 tilstander |
| DCXdoublecortin | Ofte (30–79 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Ofte (30–79 %) | I 2 tilstander |
| ELNelastin | Ofte (30–79 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ofte (30–79 %) | I 3 tilstander |
| EXOC2exocyst complex component 2 | Ofte (30–79 %) | I 1 tilstand |
| EXOC8exocyst complex component 8 | Ofte (30–79 %) | I 1 tilstand |
| FITM2fat storage inducing transmembrane protein 2 | Ofte (30–79 %) | I 1 tilstand |
| FOXP1forkhead box P1 | Ofte (30–79 %) | I 1 tilstand |
| GAD1glutamate decarboxylase 1 | Ofte (30–79 %) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Ofte (30–79 %) | I 2 tilstander |
| GBE11,4-alpha-glucan branching enzyme 1 | Ofte (30–79 %) | I 1 tilstand |
| GDAP1ganglioside induced differentiation associated protein 1 | Ofte (30–79 %) | I 2 tilstander |
| GLULglutamate-ammonia ligase | Ofte (30–79 %) | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ofte (30–79 %) | I 1 tilstand |
| H3-3AH3.3 histone A | Ofte (30–79 %) | I 1 tilstand |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Ofte (30–79 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Ofte (30–79 %) | I 1 tilstand |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Ofte (30–79 %) | I 1 tilstand |
| IDSiduronate 2-sulfatase | Ofte (30–79 %) | I 1 tilstand |
| IRF5interferon regulatory factor 5 | Ofte (30–79 %) | I 1 tilstand |
| ITGA7integrin subunit alpha 7 | Ofte (30–79 %) | I 1 tilstand |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Ofte (30–79 %) | I 2 tilstander |
| KIAA0753KIAA0753 | Ofte (30–79 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Ofte (30–79 %) | I 4 tilstander |
| KRT1keratin 1 | Ofte (30–79 %) | I 1 tilstand |
| LAMA2laminin subunit alpha 2 | Ofte (30–79 %) | I 2 tilstander |
| LIFRLIF receptor subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| LMNAlamin A/C | Ofte (30–79 %) | I 3 tilstander |
| LMOD3leiomodin 3 | Ofte (30–79 %) | I 3 tilstander |
| LMX1BLIM homeobox transcription factor 1 beta | Ofte (30–79 %) | I 1 tilstand |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Ofte (30–79 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Ofte (30–79 %) | I 2 tilstander |
| MLXIPLMLX interacting protein like | Ofte (30–79 %) | I 1 tilstand |
| MTX2metaxin 2 | Ofte (30–79 %) | I 1 tilstand |
| MYL2myosin light chain 2 | Ofte (30–79 %) | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Ofte (30–79 %) | I 1 tilstand |
| NEBnebulin | Ofte (30–79 %) | I 5 tilstander |
| NSRP1nuclear speckle splicing regulatory protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Ofte (30–79 %) | I 1 tilstand |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Ofte (30–79 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Ofte (30–79 %) | I 2 tilstander |
| RTTNrotatin | Ofte (30–79 %) | I 1 tilstand |
| SELENONselenoprotein N | Ofte (30–79 %) | I 2 tilstander |
| SLC26A2solute carrier family 26 member 2 | Ofte (30–79 %) | I 1 tilstand |
| SLURP1secreted LY6/PLAUR domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Ofte (30–79 %) | I 1 tilstand |
| SNAPINSNAP associated protein | Ofte (30–79 %) | I 1 tilstand |
| SRPX2sushi repeat containing protein X-linked 2 | Ofte (30–79 %) | I 1 tilstand |
| TMEM70transmembrane protein 70 | Ofte (30–79 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Ofte (30–79 %) | I 3 tilstander |
| TPM3tropomyosin 3 | Ofte (30–79 %) | I 4 tilstander |
| VWA1von Willebrand factor A domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| ZNHIT3zinc finger HIT-type containing 3 | Ofte (30–79 %) | I 1 tilstand |
| ADGRG6adhesion G protein-coupled receptor G6 | Noen ganger (5–29 %) | I 1 tilstand |
| AHSGalpha 2-HS glycoprotein | Noen ganger (5–29 %) | I 1 tilstand |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ANKRD55ankyrin repeat domain 55 | Noen ganger (5–29 %) | I 1 tilstand |
| ANO5anoctamin 5 | Noen ganger (5–29 %) | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATMATM serine/threonine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| ATRXATRX chromatin remodeler | Noen ganger (5–29 %) | I 1 tilstand |
| BCORBCL6 corepressor | Noen ganger (5–29 %) | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| BMPR1Abone morphogenetic protein receptor type 1A | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CD247CD247 molecule | Noen ganger (5–29 %) | I 1 tilstand |
| CDC42cell division cycle 42 | Noen ganger (5–29 %) | I 1 tilstand |
| CDONcell adhesion associated, oncogene regulated | Noen ganger (5–29 %) | I 4 tilstander |
| CFL2cofilin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CHEK2checkpoint kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Noen ganger (5–29 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Noen ganger (5–29 %) | I 2 tilstander |
| CRIPTOcripto, EGF-CFC family member | Noen ganger (5–29 %) | I 4 tilstander |
| DISP1dispatched RND transporter family member 1 | Noen ganger (5–29 %) | I 4 tilstander |
| DLL1delta like canonical Notch ligand 1 | Noen ganger (5–29 %) | I 4 tilstander |
| DNAJB6DnaJ heat shock protein family (Hsp40) member B6 | Noen ganger (5–29 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Noen ganger (5–29 %) | I 3 tilstander |
| EBPEBP cholestenol delta-isomerase | Noen ganger (5–29 %) | I 1 tilstand |
| EPCAMepithelial cell adhesion molecule | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Noen ganger (5–29 %) | I 2 tilstander |
| FERMT1FERM domain containing kindlin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Noen ganger (5–29 %) | I 4 tilstander |
| FGFR1fibroblast growth factor receptor 1 | Noen ganger (5–29 %) | I 2 tilstander |
| FOXH1forkhead box H1 | Noen ganger (5–29 %) | I 4 tilstander |
| GAS1growth arrest specific 1 | Noen ganger (5–29 %) | I 4 tilstander |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GLDNgliomedin | Noen ganger (5–29 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Noen ganger (5–29 %) | I 4 tilstander |
| GMPPBGDP-mannose pyrophosphorylase B | Noen ganger (5–29 %) | I 1 tilstand |
| GNB2G protein subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GPT2glutamic--pyruvic transaminase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GRID2glutamate ionotropic receptor delta type subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HBA1hemoglobin subunit alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HBA2hemoglobin subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HINT1histidine triad nucleotide binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IL2RAinterleukin 2 receptor subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| IL2RBinterleukin 2 receptor subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| ITGB4integrin subunit beta 4 | Noen ganger (5–29 %) | I 1 tilstand |
| ITGB6integrin subunit beta 6 | Noen ganger (5–29 %) | I 1 tilstand |
| KBTBD13kelch repeat and BTB domain containing 13 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM5Clysine demethylase 5C | Noen ganger (5–29 %) | I 1 tilstand |
| KIF1Akinesin family member 1A | Noen ganger (5–29 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Noen ganger (5–29 %) | I 1 tilstand |
| LMNB1lamin B1 | Noen ganger (5–29 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| LPIN2lipin 2 | Noen ganger (5–29 %) | I 2 tilstander |
| LSSlanosterol synthase | Noen ganger (5–29 %) | I 1 tilstand |
| MAN1B1mannosidase alpha class 1B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MFN2mitofusin 2 | Noen ganger (5–29 %) | I 2 tilstander |
| MLH1mutL homolog 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MSH2mutS homolog 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MSH6mutS homolog 6 | Noen ganger (5–29 %) | I 1 tilstand |
| MUTYHmutY DNA glycosylase | Noen ganger (5–29 %) | I 1 tilstand |
| MYPNmyopalladin | Noen ganger (5–29 %) | I 1 tilstand |
| NACC1nucleus accumbens associated 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NODALnodal growth differentiation factor | Noen ganger (5–29 %) | I 4 tilstander |
| NPATnuclear protein, coactivator of histone transcription | Noen ganger (5–29 %) | I 1 tilstand |
| NPPAnatriuretic peptide A | Noen ganger (5–29 %) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Noen ganger (5–29 %) | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Noen ganger (5–29 %) | I 1 tilstand |
| PLCH1phospholipase C eta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PLECplectin | Noen ganger (5–29 %) | I 3 tilstander |
| PMS1PMS1 homolog 1, mismatch repair system component | Noen ganger (5–29 %) | I 1 tilstand |
| PMS2PMS1 homolog 2, mismatch repair system component | Noen ganger (5–29 %) | I 1 tilstand |
| POLD1DNA polymerase delta 1, catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| POLEDNA polymerase epsilon, catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Noen ganger (5–29 %) | I 1 tilstand |
| PORcytochrome p450 oxidoreductase | Noen ganger (5–29 %) | I 2 tilstander |
| PTCH1patched 1 | Noen ganger (5–29 %) | I 4 tilstander |
| PTPN2protein tyrosine phosphatase non-receptor type 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Noen ganger (5–29 %) | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS20ribosomal protein S20 | Noen ganger (5–29 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Noen ganger (5–29 %) | I 2 tilstander |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SEMA4Asemaphorin 4A | Noen ganger (5–29 %) | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Noen ganger (5–29 %) | I 4 tilstander |
| SIX3SIX homeobox 3 | Noen ganger (5–29 %) | I 4 tilstander |
| SLC16A2solute carrier family 16 member 2 | Noen ganger (5–29 %) | I 2 tilstander |
| SLC39A13solute carrier family 39 member 13 | Noen ganger (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Noen ganger (5–29 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Noen ganger (5–29 %) | I 2 tilstander |
| STAT4signal transducer and activator of transcription 4 | Noen ganger (5–29 %) | I 1 tilstand |
| STILSTIL centriolar assembly protein | Noen ganger (5–29 %) | I 4 tilstander |
| STIM1stromal interaction molecule 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Noen ganger (5–29 %) | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TGIF1TGFB induced factor homeobox 1 | Noen ganger (5–29 %) | I 4 tilstander |
| TGM1transglutaminase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| USP7ubiquitin specific peptidase 7 | Noen ganger (5–29 %) | I 1 tilstand |
| VMA21vacuolar ATPase assembly factor VMA21 | Noen ganger (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Noen ganger (5–29 %) | I 2 tilstander |
| ZIC2Zic family zinc finger 2 | Noen ganger (5–29 %) | I 4 tilstander |
| CNTNAP1contactin associated protein 1 | Sjelden (1–4%) | I 1 tilstand |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Sjelden (1–4%) | I 2 tilstander |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Sjelden (1–4%) | I 1 tilstand |
| NARS1asparaginyl-tRNA synthetase 1 | Sjelden (1–4%) | I 1 tilstand |
| TRAK1trafficking kinesin protein 1 | Sjelden (1–4%) | I 1 tilstand |
| ACADSacyl-CoA dehydrogenase short chain | Ikke registrert | I 1 tilstand |
| ADCY6adenylate cyclase 6 | Ikke registrert | I 1 tilstand |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Ikke registrert | I 1 tilstand |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Ikke registrert | I 1 tilstand |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Ikke registrert | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Ikke registrert | I 1 tilstand |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Ikke registrert | I 1 tilstand |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Ikke registrert | I 1 tilstand |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Ikke registrert | I 1 tilstand |
| ARXaristaless related homeobox | Ikke registrert | I 1 tilstand |
| ASCC1activating signal cointegrator 1 complex subunit 1 | Ikke registrert | I 1 tilstand |
| ATAD1ATPase family AAA domain containing 1 | Ikke registrert | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Ikke registrert | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Ikke registrert | I 1 tilstand |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Ikke registrert | I 1 tilstand |
| CHRNDcholinergic receptor nicotinic delta subunit | Ikke registrert | I 1 tilstand |
| COL11A2collagen type XI alpha 2 chain | Ikke registrert | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Ikke registrert | I 1 tilstand |
| COQ7coenzyme Q7, hydroxylase | Ikke registrert | I 1 tilstand |
| DEGS1delta 4-desaturase, sphingolipid 1 | Ikke registrert | I 1 tilstand |
| EEDembryonic ectoderm development | Ikke registrert | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Ikke registrert | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Ikke registrert | I 1 tilstand |
| EXOSC3exosome component 3 | Ikke registrert | I 1 tilstand |
| EXOSC9exosome component 9 | Ikke registrert | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Ikke registrert | I 1 tilstand |
| GDF5growth differentiation factor 5 | Ikke registrert | I 1 tilstand |
| GNPATglyceronephosphate O-acyltransferase | Ikke registrert | I 1 tilstand |
| HSPD1heat shock protein family D (Hsp60) member 1 | Ikke registrert | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| IDUAalpha-L-iduronidase | Ikke registrert | I 1 tilstand |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Ikke registrert | I 1 tilstand |
| KLC2kinesin light chain 2 | Ikke registrert | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Ikke registrert | I 1 tilstand |
| LEMD3LEM domain containing 3 | Ikke registrert | I 1 tilstand |
| LGI4leucine rich repeat LGI family member 4 | Ikke registrert | I 1 tilstand |
| MED12mediator complex subunit 12 | Ikke registrert | I 1 tilstand |
| MPDU1mannose-P-dolichol utilization defect 1 | Ikke registrert | I 1 tilstand |
| MTM1myotubularin 1 | Ikke registrert | I 1 tilstand |
| MTMR14myotubularin related protein 14 | Ikke registrert | I 1 tilstand |
| MYL1myosin light chain 1 | Ikke registrert | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Ikke registrert | I 1 tilstand |
| MYO18Bmyosin XVIIIB | Ikke registrert | I 1 tilstand |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Ikke registrert | I 1 tilstand |
| NEFLneurofilament light chain | Ikke registrert | I 1 tilstand |
| NKX3-2NK3 homeobox 2 | Ikke registrert | I 1 tilstand |
| NT5C25'-nucleotidase, cytosolic II | Ikke registrert | I 1 tilstand |
| ORC1origin recognition complex subunit 1 | Ikke registrert | I 1 tilstand |
| OTUD6BOTU deubiquitinase 6B | Ikke registrert | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Ikke registrert | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ikke registrert | I 1 tilstand |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Ikke registrert | I 1 tilstand |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | Ikke registrert | I 1 tilstand |
| PLP1proteolipid protein 1 | Ikke registrert | I 1 tilstand |
| PMM2phosphomannomutase 2 | Ikke registrert | I 1 tilstand |
| POMKprotein O-mannose kinase | Ikke registrert | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Ikke registrert | I 2 tilstander |
| POMT2protein O-mannosyltransferase 2 | Ikke registrert | I 1 tilstand |
| POP1POP1 ribonuclease P/MRP subunit | Ikke registrert | I 1 tilstand |
| PPT1palmitoyl-protein thioesterase 1 | Ikke registrert | I 1 tilstand |
| PSMB4proteasome 20S subunit beta 4 | Ikke registrert | I 1 tilstand |
| RAB18RAB18, member RAS oncogene family | Ikke registrert | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Ikke registrert | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Ikke registrert | I 1 tilstand |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Ikke registrert | I 1 tilstand |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Ikke registrert | I 1 tilstand |
| SGCAsarcoglycan alpha | Ikke registrert | I 1 tilstand |
| SGCGsarcoglycan gamma | Ikke registrert | I 1 tilstand |
| SIL1SIL1 nucleotide exchange factor | Ikke registrert | I 1 tilstand |
| SLC12A6solute carrier family 12 member 6 | Ikke registrert | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Ikke registrert | I 1 tilstand |
| SLC25A19solute carrier family 25 member 19 | Ikke registrert | I 1 tilstand |
| SLC25A46solute carrier family 25 member 46 | Ikke registrert | I 1 tilstand |
| SLC2A10solute carrier family 2 member 10 | Ikke registrert | I 1 tilstand |
| SLC6A9solute carrier family 6 member 9 | Ikke registrert | I 1 tilstand |
| SLC9A6solute carrier family 9 member A6 | Ikke registrert | I 1 tilstand |
| SPARTspartin | Ikke registrert | I 1 tilstand |
| STAC3SH3 and cysteine rich domain 3 | Ikke registrert | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Ikke registrert | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registrert | I 1 tilstand |
| TMEM107transmembrane protein 107 | Ikke registrert | I 1 tilstand |
| TRIP4thyroid hormone receptor interactor 4 | Ikke registrert | I 1 tilstand |
| TRPV3transient receptor potential cation channel subfamily V member 3 | Ikke registrert | I 1 tilstand |
| UBA1ubiquitin like modifier activating enzyme 1 | Ikke registrert | I 1 tilstand |
| UCHL1ubiquitin C-terminal hydrolase L1 | Ikke registrert | I 1 tilstand |
| VAMP1vesicle associated membrane protein 1 | Ikke registrert | I 1 tilstand |
| VPS53VPS53 subunit of GARP complex | Ikke registrert | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
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