Træk
Permanent flexion of the finger or toe
Klinisk navn: 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.
Resumé
- Kropssystem
- Abnormality of the musculoskeletal system
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test187 gener knyttet til Permanent flexion of the finger or toe
Ændringer i disse gener forårsager sjældne tilstande, hvor Permanent flexion of the finger or toe ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ATP6V1AATPase H+ transporting V1 subunit A | Altid | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Altid | I 1 tilstand |
| B9D2B9 domain containing 2 | Altid | I 1 tilstand |
| BHLHA9basic helix-loop-helix family member a9 | Altid | I 1 tilstand |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Altid | I 1 tilstand |
| CCDC22CCC complex scaffolding subunit CCDC22 | Altid | I 1 tilstand |
| CDC42cell division cycle 42 | Altid | I 2 tilstande |
| CHRNGcholinergic receptor nicotinic gamma subunit | Altid | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Altid | I 2 tilstande |
| DRG1developmentally regulated GTP binding protein 1 | Altid | I 1 tilstand |
| EEDembryonic ectoderm development | Altid | I 1 tilstand |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Altid | I 1 tilstand |
| FBN1fibrillin 1 | Altid | I 2 tilstande |
| FHL1four and a half LIM domains 1 | Altid | I 1 tilstand |
| FILIP1filamin A interacting protein 1 | Altid | I 1 tilstand |
| FLNAfilamin A | Altid | I 2 tilstande |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altid | I 1 tilstand |
| ITCHitchy E3 ubiquitin protein ligase | Altid | I 2 tilstande |
| KLHL7kelch like family member 7 | Altid | I 1 tilstand |
| LBRlamin B receptor | Altid | I 1 tilstand |
| LGI4leucine rich repeat LGI family member 4 | Altid | I 1 tilstand |
| LIFRLIF receptor subunit alpha | Altid | I 1 tilstand |
| LMNAlamin A/C | Altid | I 1 tilstand |
| MED16mediator complex subunit 16 | Altid | I 1 tilstand |
| METMET proto-oncogene, receptor tyrosine kinase | Altid | I 1 tilstand |
| MYH3myosin heavy chain 3 | Altid | I 3 tilstande |
| MYO9Amyosin IXA | Altid | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Altid | I 2 tilstande |
| NUP188nucleoporin 188 | Altid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altid | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Altid | I 1 tilstand |
| SCARF2scavenger receptor class F member 2 | Altid | I 2 tilstande |
| SF3B4splicing factor 3b subunit 4 | Altid | I 1 tilstand |
| SGSM3small G protein signaling modulator 3 | Altid | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Altid | I 1 tilstand |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Altid | I 1 tilstand |
| TBCBtubulin folding cofactor B | Altid | I 1 tilstand |
| TOP2BDNA topoisomerase II beta | Altid | I 1 tilstand |
| TOR1Atorsin family 1 member A | Altid | I 1 tilstand |
| WDR83OSWD repeat domain 83 opposite strand | Altid | I 1 tilstand |
Vis 147 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ZIC2Zic family zinc finger 2 | Altid | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Meget ofte (80–99 %) | I 2 tilstande |
| FGFR3fibroblast growth factor receptor 3 | Meget ofte (80–99 %) | I 1 tilstand |
| SNX14sorting nexin 14 | Meget ofte (80–99 %) | I 2 tilstande |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Ofte (30–79 %) | I 2 tilstande |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Ofte (30–79 %) | I 1 tilstand |
| CCDC32coiled-coil domain containing 32 | Ofte (30–79 %) | I 1 tilstand |
| CCN6cellular communication network factor 6 | Ofte (30–79 %) | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Ofte (30–79 %) | I 1 tilstand |
| DPH1diphthamide biosynthesis 1 | Ofte (30–79 %) | I 1 tilstand |
| DPH2diphthamide biosynthesis 2 | Ofte (30–79 %) | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Ofte (30–79 %) | I 1 tilstand |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Ofte (30–79 %) | I 1 tilstand |
| EXOSC5exosome component 5 | Ofte (30–79 %) | I 1 tilstand |
| FBN2fibrillin 2 | Ofte (30–79 %) | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| FIBPFGF1 intracellular binding protein | Ofte (30–79 %) | I 1 tilstand |
| GLULglutamate-ammonia ligase | Ofte (30–79 %) | I 1 tilstand |
| GPC4glypican 4 | Ofte (30–79 %) | I 1 tilstand |
| IL6STinterleukin 6 cytokine family signal transducer | Ofte (30–79 %) | I 1 tilstand |
| KIF15kinesin family member 15 | Ofte (30–79 %) | I 1 tilstand |
| MAFMAF bZIP transcription factor | Ofte (30–79 %) | I 2 tilstande |
| MAGEL2MAGE family member L2 | Ofte (30–79 %) | I 1 tilstand |
| MEGF8multiple EGF like domains 8 | Ofte (30–79 %) | I 1 tilstand |
| NEK9NIMA related kinase 9 | Ofte (30–79 %) | I 1 tilstand |
| NKAPNFKB activating protein | Ofte (30–79 %) | I 1 tilstand |
| NUP88nucleoporin 88 | Ofte (30–79 %) | I 1 tilstand |
| NXNnucleoredoxin | Ofte (30–79 %) | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ofte (30–79 %) | I 2 tilstande |
| RPL10ribosomal protein L10 | Ofte (30–79 %) | I 1 tilstand |
| SH3PXD2BSH3 and PX domains 2B | Ofte (30–79 %) | I 1 tilstand |
| SKISKI proto-oncogene | Ofte (30–79 %) | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC29A3solute carrier family 29 member 3 | Ofte (30–79 %) | I 2 tilstande |
| TGFBR1transforming growth factor beta receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Ofte (30–79 %) | I 1 tilstand |
| TWIST2twist family bHLH transcription factor 2 | Ofte (30–79 %) | I 1 tilstand |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ALPK3alpha kinase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ARXaristaless related homeobox | Nogle gange (5–29 %) | I 1 tilstand |
| CDK13cyclin dependent kinase 13 | Nogle gange (5–29 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Nogle gange (5–29 %) | I 1 tilstand |
| CHN1chimerin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| COG8component of oligomeric golgi complex 8 | Nogle gange (5–29 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Nogle gange (5–29 %) | I 2 tilstande |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Nogle gange (5–29 %) | I 2 tilstande |
| DUSP6dual specificity phosphatase 6 | Nogle gange (5–29 %) | I 1 tilstand |
| DVL3dishevelled segment polarity protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| EMX2empty spiracles homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF17fibroblast growth factor 17 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF8fibroblast growth factor 8 | Nogle gange (5–29 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Nogle gange (5–29 %) | I 2 tilstande |
| GLDNgliomedin | Nogle gange (5–29 %) | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Nogle gange (5–29 %) | I 1 tilstand |
| GNRH1gonadotropin releasing hormone 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GNRHRgonadotropin releasing hormone receptor | Nogle gange (5–29 %) | I 1 tilstand |
| H1-4H1.4 linker histone, cluster member | Nogle gange (5–29 %) | I 1 tilstand |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KISS1KiSS-1 metastasis suppressor | Nogle gange (5–29 %) | I 1 tilstand |
| KISS1RKISS1 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| KRT1keratin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KRT16keratin 16 | Nogle gange (5–29 %) | I 1 tilstand |
| KRT9keratin 9 | Nogle gange (5–29 %) | I 1 tilstand |
| LMBRD2LMBR1 domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MAFBMAF bZIP transcription factor B | Nogle gange (5–29 %) | I 1 tilstand |
| MED13Lmediator complex subunit 13L | Nogle gange (5–29 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Nogle gange (5–29 %) | I 2 tilstande |
| MSL3MSL complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NHLH2nescient helix-loop-helix 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Nogle gange (5–29 %) | I 1 tilstand |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Nogle gange (5–29 %) | I 1 tilstand |
| PORcytochrome p450 oxidoreductase | Nogle gange (5–29 %) | I 3 tilstande |
| PRDM5PR/SET domain 5 | Nogle gange (5–29 %) | I 1 tilstand |
| PROK2prokineticin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PROKR2prokineticin receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RIC1RIC1 partner of RAB6A GEF complex | Nogle gange (5–29 %) | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Nogle gange (5–29 %) | I 2 tilstande |
| RTL1retrotransposon Gag like 1 | Nogle gange (5–29 %) | I 2 tilstande |
| SALL4spalt like transcription factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SMAD3SMAD family member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SPRY4sprouty RTK signaling antagonist 4 | Nogle gange (5–29 %) | I 1 tilstand |
| TAC3tachykinin precursor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TACR3tachykinin receptor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| THOC6THO complex subunit 6 | Nogle gange (5–29 %) | I 1 tilstand |
| TNNC2troponin C2, fast skeletal type | Nogle gange (5–29 %) | I 1 tilstand |
| WDR11WD repeat domain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Nogle gange (5–29 %) | I 2 tilstande |
| ZNF469zinc finger protein 469 | Nogle gange (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Sjældent (1–4%) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Sjældent (1–4%) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Sjældent (1–4%) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Sjældent (1–4%) | I 1 tilstand |
| SETBP1SET binding protein 1 | Sjældent (1–4%) | I 1 tilstand |
| SMSspermine synthase | Sjældent (1–4%) | I 1 tilstand |
| STAC3SH3 and cysteine rich domain 3 | Sjældent (1–4%) | I 1 tilstand |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Ikke registreret | I 1 tilstand |
| ALX3ALX homeobox 3 | Ikke registreret | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Ikke registreret | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Ikke registreret | I 1 tilstand |
| ATAD1ATPase family AAA domain containing 1 | Ikke registreret | I 1 tilstand |
| BCORBCL6 corepressor | Ikke registreret | I 1 tilstand |
| BGNbiglycan | Ikke registreret | I 1 tilstand |
| BLTP1bridge-like lipid transfer protein family member 1 | Ikke registreret | I 1 tilstand |
| CCBE1collagen and calcium binding EGF domains 1 | Ikke registreret | I 1 tilstand |
| CDH3cadherin 3 | Ikke registreret | I 1 tilstand |
| CNTN1contactin 1 | Ikke registreret | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | Ikke registreret | I 1 tilstand |
| COL3A1collagen type III alpha 1 chain | Ikke registreret | I 1 tilstand |
| CRLF1cytokine receptor like factor 1 | Ikke registreret | I 1 tilstand |
| DSEdermatan sulfate epimerase | Ikke registreret | I 1 tilstand |
| DYMdymeclin | Ikke registreret | I 1 tilstand |
| ECEL1endothelin converting enzyme like 1 | Ikke registreret | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ikke registreret | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Ikke registreret | I 1 tilstand |
| GORABgolgin, RAB6 interacting | Ikke registreret | I 1 tilstand |
| HOXD13homeobox D13 | Ikke registreret | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ikke registreret | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Ikke registreret | I 1 tilstand |
| MED12mediator complex subunit 12 | Ikke registreret | I 1 tilstand |
| MYBPC1myosin binding protein C1 | Ikke registreret | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Ikke registreret | I 1 tilstand |
| ORC1origin recognition complex subunit 1 | Ikke registreret | I 1 tilstand |
| ORC4origin recognition complex subunit 4 | Ikke registreret | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Ikke registreret | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Ikke registreret | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Ikke registreret | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Ikke registreret | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Ikke registreret | I 1 tilstand |
| PQBP1polyglutamine binding protein 1 | Ikke registreret | I 1 tilstand |
| RAB23RAB23, member RAS oncogene family | Ikke registreret | I 1 tilstand |
| SATB2SATB homeobox 2 | Ikke registreret | I 1 tilstand |
| SMAD4SMAD family member 4 | Ikke registreret | I 1 tilstand |
| SPARTspartin | Ikke registreret | I 1 tilstand |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Ikke registreret | I 1 tilstand |
| TBC1D32TBC1 domain family member 32 | Ikke registreret | I 1 tilstand |
| TBX15T-box transcription factor 15 | Ikke registreret | I 1 tilstand |
| TGDSTDP-glucose 4,6-dehydratase | Ikke registreret | I 1 tilstand |
| TNNT3troponin T3, fast skeletal type | Ikke registreret | I 1 tilstand |
| TP63tumor protein p63 | Ikke registreret | I 1 tilstand |
| WDR73WD repeat domain 73 | Ikke registreret | I 1 tilstand |
| WIPI2WD repeat domain, phosphoinositide interacting 2 | Ikke registreret | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger