Požymis
Permanent flexion of the finger or toe
Klinikinis pavadinimas: Camptodactyly
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Santrauka
- Kūno sistema
- Abnormality of the musculoskeletal system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Permanent flexion of the finger or toe, and the rest of your genome, with one test.
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Įsigyti savo Genome Test187 genų susiję su Permanent flexion of the finger or toe
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Permanent flexion of the finger or toe. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ATP6V1AATPase H+ transporting V1 subunit A | Visada | 1 ligoje |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Visada | 1 ligoje |
| B9D2B9 domain containing 2 | Visada | 1 ligoje |
| BHLHA9basic helix-loop-helix family member a9 | Visada | 1 ligoje |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Visada | 1 ligoje |
| CCDC22CCC complex scaffolding subunit CCDC22 | Visada | 1 ligoje |
| CDC42cell division cycle 42 | Visada | 2 ligose |
| CHRNGcholinergic receptor nicotinic gamma subunit | Visada | 1 ligoje |
| DCHS1dachsous cadherin-related 1 | Visada | 2 ligose |
| DRG1developmentally regulated GTP binding protein 1 | Visada | 1 ligoje |
| EEDembryonic ectoderm development | Visada | 1 ligoje |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Visada | 1 ligoje |
| FBN1fibrillin 1 | Visada | 2 ligose |
| FHL1four and a half LIM domains 1 | Visada | 1 ligoje |
| FILIP1filamin A interacting protein 1 | Visada | 1 ligoje |
| FLNAfilamin A | Visada | 2 ligose |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Visada | 1 ligoje |
| ITCHitchy E3 ubiquitin protein ligase | Visada | 2 ligose |
| KLHL7kelch like family member 7 | Visada | 1 ligoje |
| LBRlamin B receptor | Visada | 1 ligoje |
| LGI4leucine rich repeat LGI family member 4 | Visada | 1 ligoje |
| LIFRLIF receptor subunit alpha | Visada | 1 ligoje |
| LMNAlamin A/C | Visada | 1 ligoje |
| MED16mediator complex subunit 16 | Visada | 1 ligoje |
| METMET proto-oncogene, receptor tyrosine kinase | Visada | 1 ligoje |
| MYH3myosin heavy chain 3 | Visada | 3 ligose |
| MYO9Amyosin IXA | Visada | 1 ligoje |
| NALCNsodium leak channel, non-selective | Visada | 2 ligose |
| NUP188nucleoporin 188 | Visada | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Visada | 1 ligoje |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Visada | 1 ligoje |
| SCARF2scavenger receptor class F member 2 | Visada | 2 ligose |
| SF3B4splicing factor 3b subunit 4 | Visada | 1 ligoje |
| SGSM3small G protein signaling modulator 3 | Visada | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Visada | 1 ligoje |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Visada | 1 ligoje |
| TBCBtubulin folding cofactor B | Visada | 1 ligoje |
| TOP2BDNA topoisomerase II beta | Visada | 1 ligoje |
| TOR1Atorsin family 1 member A | Visada | 1 ligoje |
| WDR83OSWD repeat domain 83 opposite strand | Visada | 1 ligoje |
Rodyti dar 147 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ZIC2Zic family zinc finger 2 | Visada | 1 ligoje |
| FAT4FAT atypical cadherin 4 | Labai dažnai (80–99%) | 2 ligose |
| FGFR3fibroblast growth factor receptor 3 | Labai dažnai (80–99%) | 1 ligoje |
| SNX14sorting nexin 14 | Labai dažnai (80–99%) | 2 ligose |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Dažnai (30–79%) | 2 ligose |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Dažnai (30–79%) | 1 ligoje |
| CCDC32coiled-coil domain containing 32 | Dažnai (30–79%) | 1 ligoje |
| CCN6cellular communication network factor 6 | Dažnai (30–79%) | 1 ligoje |
| COG1component of oligomeric golgi complex 1 | Dažnai (30–79%) | 1 ligoje |
| DPH1diphthamide biosynthesis 1 | Dažnai (30–79%) | 1 ligoje |
| DPH2diphthamide biosynthesis 2 | Dažnai (30–79%) | 1 ligoje |
| DVL1dishevelled segment polarity protein 1 | Dažnai (30–79%) | 1 ligoje |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Dažnai (30–79%) | 1 ligoje |
| EXOSC5exosome component 5 | Dažnai (30–79%) | 1 ligoje |
| FBN2fibrillin 2 | Dažnai (30–79%) | 1 ligoje |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| FIBPFGF1 intracellular binding protein | Dažnai (30–79%) | 1 ligoje |
| GLULglutamate-ammonia ligase | Dažnai (30–79%) | 1 ligoje |
| GPC4glypican 4 | Dažnai (30–79%) | 1 ligoje |
| IL6STinterleukin 6 cytokine family signal transducer | Dažnai (30–79%) | 1 ligoje |
| KIF15kinesin family member 15 | Dažnai (30–79%) | 1 ligoje |
| MAFMAF bZIP transcription factor | Dažnai (30–79%) | 2 ligose |
| MAGEL2MAGE family member L2 | Dažnai (30–79%) | 1 ligoje |
| MEGF8multiple EGF like domains 8 | Dažnai (30–79%) | 1 ligoje |
| NEK9NIMA related kinase 9 | Dažnai (30–79%) | 1 ligoje |
| NKAPNFKB activating protein | Dažnai (30–79%) | 1 ligoje |
| NUP88nucleoporin 88 | Dažnai (30–79%) | 1 ligoje |
| NXNnucleoredoxin | Dažnai (30–79%) | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Dažnai (30–79%) | 2 ligose |
| RPL10ribosomal protein L10 | Dažnai (30–79%) | 1 ligoje |
| SH3PXD2BSH3 and PX domains 2B | Dažnai (30–79%) | 1 ligoje |
| SKISKI proto-oncogene | Dažnai (30–79%) | 1 ligoje |
| SLC26A2solute carrier family 26 member 2 | Dažnai (30–79%) | 1 ligoje |
| SLC29A3solute carrier family 29 member 3 | Dažnai (30–79%) | 2 ligose |
| TGFBR1transforming growth factor beta receptor 1 | Dažnai (30–79%) | 1 ligoje |
| TGFBR2transforming growth factor beta receptor 2 | Dažnai (30–79%) | 1 ligoje |
| TPM2tropomyosin 2 | Dažnai (30–79%) | 1 ligoje |
| TWIST2twist family bHLH transcription factor 2 | Dažnai (30–79%) | 1 ligoje |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| ALPK3alpha kinase 3 | Kartais (5–29%) | 1 ligoje |
| ARXaristaless related homeobox | Kartais (5–29%) | 1 ligoje |
| CDK13cyclin dependent kinase 13 | Kartais (5–29%) | 1 ligoje |
| CHD7chromodomain helicase DNA binding protein 7 | Kartais (5–29%) | 1 ligoje |
| CHN1chimerin 1 | Kartais (5–29%) | 1 ligoje |
| COG8component of oligomeric golgi complex 8 | Kartais (5–29%) | 1 ligoje |
| DLK1delta like non-canonical Notch ligand 1 | Kartais (5–29%) | 2 ligose |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Kartais (5–29%) | 1 ligoje |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Kartais (5–29%) | 2 ligose |
| DUSP6dual specificity phosphatase 6 | Kartais (5–29%) | 1 ligoje |
| DVL3dishevelled segment polarity protein 3 | Kartais (5–29%) | 1 ligoje |
| EMX2empty spiracles homeobox 2 | Kartais (5–29%) | 1 ligoje |
| FGF17fibroblast growth factor 17 | Kartais (5–29%) | 1 ligoje |
| FGF8fibroblast growth factor 8 | Kartais (5–29%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Kartais (5–29%) | 1 ligoje |
| FLVCR1FLVCR choline and heme transporter 1 | Kartais (5–29%) | 2 ligose |
| GLDNgliomedin | Kartais (5–29%) | 1 ligoje |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Kartais (5–29%) | 1 ligoje |
| GNRH1gonadotropin releasing hormone 1 | Kartais (5–29%) | 1 ligoje |
| GNRHRgonadotropin releasing hormone receptor | Kartais (5–29%) | 1 ligoje |
| H1-4H1.4 linker histone, cluster member | Kartais (5–29%) | 1 ligoje |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Kartais (5–29%) | 1 ligoje |
| KISS1KiSS-1 metastasis suppressor | Kartais (5–29%) | 1 ligoje |
| KISS1RKISS1 receptor | Kartais (5–29%) | 1 ligoje |
| KRT1keratin 1 | Kartais (5–29%) | 1 ligoje |
| KRT16keratin 16 | Kartais (5–29%) | 1 ligoje |
| KRT9keratin 9 | Kartais (5–29%) | 1 ligoje |
| LMBRD2LMBR1 domain containing 2 | Kartais (5–29%) | 1 ligoje |
| MAFBMAF bZIP transcription factor B | Kartais (5–29%) | 1 ligoje |
| MED13Lmediator complex subunit 13L | Kartais (5–29%) | 1 ligoje |
| MEG3maternally expressed 3 | Kartais (5–29%) | 2 ligose |
| MSL3MSL complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| NHLH2nescient helix-loop-helix 2 | Kartais (5–29%) | 1 ligoje |
| NIPBLNIPBL cohesin loading factor | Kartais (5–29%) | 1 ligoje |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Kartais (5–29%) | 1 ligoje |
| PORcytochrome p450 oxidoreductase | Kartais (5–29%) | 3 ligose |
| PRDM5PR/SET domain 5 | Kartais (5–29%) | 1 ligoje |
| PROK2prokineticin 2 | Kartais (5–29%) | 1 ligoje |
| PROKR2prokineticin receptor 2 | Kartais (5–29%) | 1 ligoje |
| RIC1RIC1 partner of RAB6A GEF complex | Kartais (5–29%) | 1 ligoje |
| RNU5B-1RNA, U5B small nuclear 1 | Kartais (5–29%) | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Kartais (5–29%) | 2 ligose |
| RTL1retrotransposon Gag like 1 | Kartais (5–29%) | 2 ligose |
| SALL4spalt like transcription factor 4 | Kartais (5–29%) | 1 ligoje |
| SMAD3SMAD family member 3 | Kartais (5–29%) | 1 ligoje |
| SPRY4sprouty RTK signaling antagonist 4 | Kartais (5–29%) | 1 ligoje |
| TAC3tachykinin precursor 3 | Kartais (5–29%) | 1 ligoje |
| TACR3tachykinin receptor 3 | Kartais (5–29%) | 1 ligoje |
| TCTN3tectonic family member 3 | Kartais (5–29%) | 1 ligoje |
| THOC6THO complex subunit 6 | Kartais (5–29%) | 1 ligoje |
| TNNC2troponin C2, fast skeletal type | Kartais (5–29%) | 1 ligoje |
| WDR11WD repeat domain 11 | Kartais (5–29%) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Kartais (5–29%) | 2 ligose |
| ZNF469zinc finger protein 469 | Kartais (5–29%) | 1 ligoje |
| CTCFCCCTC-binding factor | Retai (1–4 %) | 1 ligoje |
| GJA5gap junction protein alpha 5 | Retai (1–4 %) | 1 ligoje |
| GJA8gap junction protein alpha 8 | Retai (1–4 %) | 1 ligoje |
| PTBP1polypyrimidine tract binding protein 1 | Retai (1–4 %) | 1 ligoje |
| SETBP1SET binding protein 1 | Retai (1–4 %) | 1 ligoje |
| SMSspermine synthase | Retai (1–4 %) | 1 ligoje |
| STAC3SH3 and cysteine rich domain 3 | Retai (1–4 %) | 1 ligoje |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Neužfiksuota | 1 ligoje |
| ALX3ALX homeobox 3 | Neužfiksuota | 1 ligoje |
| AMER1APC membrane recruitment protein 1 | Neužfiksuota | 1 ligoje |
| ASXL1ASXL transcriptional regulator 1 | Neužfiksuota | 1 ligoje |
| ATAD1ATPase family AAA domain containing 1 | Neužfiksuota | 1 ligoje |
| BCORBCL6 corepressor | Neužfiksuota | 1 ligoje |
| BGNbiglycan | Neužfiksuota | 1 ligoje |
| BLTP1bridge-like lipid transfer protein family member 1 | Neužfiksuota | 1 ligoje |
| CCBE1collagen and calcium binding EGF domains 1 | Neužfiksuota | 1 ligoje |
| CDH3cadherin 3 | Neužfiksuota | 1 ligoje |
| CNTN1contactin 1 | Neužfiksuota | 1 ligoje |
| COL11A1collagen type XI alpha 1 chain | Neužfiksuota | 1 ligoje |
| COL3A1collagen type III alpha 1 chain | Neužfiksuota | 1 ligoje |
| CRLF1cytokine receptor like factor 1 | Neužfiksuota | 1 ligoje |
| DSEdermatan sulfate epimerase | Neužfiksuota | 1 ligoje |
| DYMdymeclin | Neužfiksuota | 1 ligoje |
| ECEL1endothelin converting enzyme like 1 | Neužfiksuota | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Neužfiksuota | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Neužfiksuota | 1 ligoje |
| GORABgolgin, RAB6 interacting | Neužfiksuota | 1 ligoje |
| HOXD13homeobox D13 | Neužfiksuota | 1 ligoje |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Neužfiksuota | 1 ligoje |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Neužfiksuota | 1 ligoje |
| MED12mediator complex subunit 12 | Neužfiksuota | 1 ligoje |
| MYBPC1myosin binding protein C1 | Neužfiksuota | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Neužfiksuota | 1 ligoje |
| ORC1origin recognition complex subunit 1 | Neužfiksuota | 1 ligoje |
| ORC4origin recognition complex subunit 4 | Neužfiksuota | 1 ligoje |
| OSGEPO-sialoglycoprotein endopeptidase | Neužfiksuota | 1 ligoje |
| PEX2peroxisomal biogenesis factor 2 | Neužfiksuota | 1 ligoje |
| PEX5peroxisomal biogenesis factor 5 | Neužfiksuota | 1 ligoje |
| PHGDHphosphoglycerate dehydrogenase | Neužfiksuota | 1 ligoje |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Neužfiksuota | 1 ligoje |
| PQBP1polyglutamine binding protein 1 | Neužfiksuota | 1 ligoje |
| RAB23RAB23, member RAS oncogene family | Neužfiksuota | 1 ligoje |
| SATB2SATB homeobox 2 | Neužfiksuota | 1 ligoje |
| SMAD4SMAD family member 4 | Neužfiksuota | 1 ligoje |
| SPARTspartin | Neužfiksuota | 1 ligoje |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Neužfiksuota | 1 ligoje |
| TBC1D32TBC1 domain family member 32 | Neužfiksuota | 1 ligoje |
| TBX15T-box transcription factor 15 | Neužfiksuota | 1 ligoje |
| TGDSTDP-glucose 4,6-dehydratase | Neužfiksuota | 1 ligoje |
| TNNT3troponin T3, fast skeletal type | Neužfiksuota | 1 ligoje |
| TP63tumor protein p63 | Neužfiksuota | 1 ligoje |
| WDR73WD repeat domain 73 | Neužfiksuota | 1 ligoje |
| WIPI2WD repeat domain, phosphoinositide interacting 2 | Neužfiksuota | 1 ligoje |
| ZC4H2zinc finger C4H2-type containing | Neužfiksuota | 1 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.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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