Trait
Permanent flexion of the finger or toe
Clinical name: 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.
Summary
- Body system
- Abnormality of the musculoskeletal system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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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Get my Genome Test187 genes linked to Permanent flexion of the finger or toe
Changes in these genes cause rare conditions in which Permanent flexion of the finger or toe 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 |
|---|---|---|
| ATP6V1AATPase H+ transporting V1 subunit A | Always | In 1 condition |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Always | In 1 condition |
| B9D2B9 domain containing 2 | Always | In 1 condition |
| BHLHA9basic helix-loop-helix family member a9 | Always | In 1 condition |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Always | In 1 condition |
| CCDC22CCC complex scaffolding subunit CCDC22 | Always | In 1 condition |
| CDC42cell division cycle 42 | Always | In 2 conditions |
| CHRNGcholinergic receptor nicotinic gamma subunit | Always | In 1 condition |
| DCHS1dachsous cadherin-related 1 | Always | In 2 conditions |
| DRG1developmentally regulated GTP binding protein 1 | Always | In 1 condition |
| EEDembryonic ectoderm development | Always | In 1 condition |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Always | In 1 condition |
| FBN1fibrillin 1 | Always | In 2 conditions |
| FHL1four and a half LIM domains 1 | Always | In 1 condition |
| FILIP1filamin A interacting protein 1 | Always | In 1 condition |
| FLNAfilamin A | Always | In 2 conditions |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Always | In 1 condition |
| ITCHitchy E3 ubiquitin protein ligase | Always | In 2 conditions |
| KLHL7kelch like family member 7 | Always | In 1 condition |
| LBRlamin B receptor | Always | In 1 condition |
| LGI4leucine rich repeat LGI family member 4 | Always | In 1 condition |
| LIFRLIF receptor subunit alpha | Always | In 1 condition |
| LMNAlamin A/C | Always | In 1 condition |
| MED16mediator complex subunit 16 | Always | In 1 condition |
| METMET proto-oncogene, receptor tyrosine kinase | Always | In 1 condition |
| MYH3myosin heavy chain 3 | Always | In 3 conditions |
| MYO9Amyosin IXA | Always | In 1 condition |
| NALCNsodium leak channel, non-selective | Always | In 2 conditions |
| NUP188nucleoporin 188 | Always | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Always | In 1 condition |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Always | In 1 condition |
| SCARF2scavenger receptor class F member 2 | Always | In 2 conditions |
| SF3B4splicing factor 3b subunit 4 | Always | In 1 condition |
| SGSM3small G protein signaling modulator 3 | Always | In 1 condition |
| SMC1Astructural maintenance of chromosomes 1A | Always | In 1 condition |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Always | In 1 condition |
| TBCBtubulin folding cofactor B | Always | In 1 condition |
| TOP2BDNA topoisomerase II beta | Always | In 1 condition |
| TOR1Atorsin family 1 member A | Always | In 1 condition |
| WDR83OSWD repeat domain 83 opposite strand | Always | In 1 condition |
Show 147 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| ZIC2Zic family zinc finger 2 | Always | In 1 condition |
| FAT4FAT atypical cadherin 4 | Very often (80–99%) | In 2 conditions |
| FGFR3fibroblast growth factor receptor 3 | Very often (80–99%) | In 1 condition |
| SNX14sorting nexin 14 | Very often (80–99%) | In 2 conditions |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Often (30–79%) | In 2 conditions |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Often (30–79%) | In 1 condition |
| CCDC32coiled-coil domain containing 32 | Often (30–79%) | In 1 condition |
| CCN6cellular communication network factor 6 | Often (30–79%) | In 1 condition |
| COG1component of oligomeric golgi complex 1 | Often (30–79%) | In 1 condition |
| DPH1diphthamide biosynthesis 1 | Often (30–79%) | In 1 condition |
| DPH2diphthamide biosynthesis 2 | Often (30–79%) | In 1 condition |
| DVL1dishevelled segment polarity protein 1 | Often (30–79%) | In 1 condition |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Often (30–79%) | In 1 condition |
| EXOSC5exosome component 5 | Often (30–79%) | In 1 condition |
| FBN2fibrillin 2 | Often (30–79%) | In 1 condition |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Often (30–79%) | In 1 condition |
| FIBPFGF1 intracellular binding protein | Often (30–79%) | In 1 condition |
| GLULglutamate-ammonia ligase | Often (30–79%) | In 1 condition |
| GPC4glypican 4 | Often (30–79%) | In 1 condition |
| IL6STinterleukin 6 cytokine family signal transducer | Often (30–79%) | In 1 condition |
| KIF15kinesin family member 15 | Often (30–79%) | In 1 condition |
| MAFMAF bZIP transcription factor | Often (30–79%) | In 2 conditions |
| MAGEL2MAGE family member L2 | Often (30–79%) | In 1 condition |
| MEGF8multiple EGF like domains 8 | Often (30–79%) | In 1 condition |
| NEK9NIMA related kinase 9 | Often (30–79%) | In 1 condition |
| NKAPNFKB activating protein | Often (30–79%) | In 1 condition |
| NUP88nucleoporin 88 | Often (30–79%) | In 1 condition |
| NXNnucleoredoxin | Often (30–79%) | In 1 condition |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Often (30–79%) | In 2 conditions |
| RPL10ribosomal protein L10 | Often (30–79%) | In 1 condition |
| SH3PXD2BSH3 and PX domains 2B | Often (30–79%) | In 1 condition |
| SKISKI proto-oncogene | Often (30–79%) | In 1 condition |
| SLC26A2solute carrier family 26 member 2 | Often (30–79%) | In 1 condition |
| SLC29A3solute carrier family 29 member 3 | Often (30–79%) | In 2 conditions |
| TGFBR1transforming growth factor beta receptor 1 | Often (30–79%) | In 1 condition |
| TGFBR2transforming growth factor beta receptor 2 | Often (30–79%) | In 1 condition |
| TPM2tropomyosin 2 | Often (30–79%) | In 1 condition |
| TWIST2twist family bHLH transcription factor 2 | Often (30–79%) | In 1 condition |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Sometimes (5–29%) | In 1 condition |
| ALPK3alpha kinase 3 | Sometimes (5–29%) | In 1 condition |
| ARXaristaless related homeobox | Sometimes (5–29%) | In 1 condition |
| CDK13cyclin dependent kinase 13 | Sometimes (5–29%) | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Sometimes (5–29%) | In 1 condition |
| CHN1chimerin 1 | Sometimes (5–29%) | In 1 condition |
| COG8component of oligomeric golgi complex 8 | Sometimes (5–29%) | In 1 condition |
| DLK1delta like non-canonical Notch ligand 1 | Sometimes (5–29%) | In 2 conditions |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Sometimes (5–29%) | In 1 condition |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Sometimes (5–29%) | In 2 conditions |
| DUSP6dual specificity phosphatase 6 | Sometimes (5–29%) | In 1 condition |
| DVL3dishevelled segment polarity protein 3 | Sometimes (5–29%) | In 1 condition |
| EMX2empty spiracles homeobox 2 | Sometimes (5–29%) | In 1 condition |
| FGF17fibroblast growth factor 17 | Sometimes (5–29%) | In 1 condition |
| FGF8fibroblast growth factor 8 | Sometimes (5–29%) | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Sometimes (5–29%) | In 1 condition |
| FLVCR1FLVCR choline and heme transporter 1 | Sometimes (5–29%) | In 2 conditions |
| GLDNgliomedin | Sometimes (5–29%) | In 1 condition |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Sometimes (5–29%) | In 1 condition |
| GNRH1gonadotropin releasing hormone 1 | Sometimes (5–29%) | In 1 condition |
| GNRHRgonadotropin releasing hormone receptor | Sometimes (5–29%) | In 1 condition |
| H1-4H1.4 linker histone, cluster member | Sometimes (5–29%) | In 1 condition |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Sometimes (5–29%) | In 1 condition |
| KISS1KiSS-1 metastasis suppressor | Sometimes (5–29%) | In 1 condition |
| KISS1RKISS1 receptor | Sometimes (5–29%) | In 1 condition |
| KRT1keratin 1 | Sometimes (5–29%) | In 1 condition |
| KRT16keratin 16 | Sometimes (5–29%) | In 1 condition |
| KRT9keratin 9 | Sometimes (5–29%) | In 1 condition |
| LMBRD2LMBR1 domain containing 2 | Sometimes (5–29%) | In 1 condition |
| MAFBMAF bZIP transcription factor B | Sometimes (5–29%) | In 1 condition |
| MED13Lmediator complex subunit 13L | Sometimes (5–29%) | In 1 condition |
| MEG3maternally expressed 3 | Sometimes (5–29%) | In 2 conditions |
| MSL3MSL complex subunit 3 | Sometimes (5–29%) | In 1 condition |
| NHLH2nescient helix-loop-helix 2 | Sometimes (5–29%) | In 1 condition |
| NIPBLNIPBL cohesin loading factor | Sometimes (5–29%) | In 1 condition |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Sometimes (5–29%) | In 1 condition |
| PORcytochrome p450 oxidoreductase | Sometimes (5–29%) | In 3 conditions |
| PRDM5PR/SET domain 5 | Sometimes (5–29%) | In 1 condition |
| PROK2prokineticin 2 | Sometimes (5–29%) | In 1 condition |
| PROKR2prokineticin receptor 2 | Sometimes (5–29%) | In 1 condition |
| RIC1RIC1 partner of RAB6A GEF complex | Sometimes (5–29%) | In 1 condition |
| RNU5B-1RNA, U5B small nuclear 1 | Sometimes (5–29%) | In 1 condition |
| ROR2ROR family WNT receptor 2 | Sometimes (5–29%) | In 2 conditions |
| RTL1retrotransposon Gag like 1 | Sometimes (5–29%) | In 2 conditions |
| SALL4spalt like transcription factor 4 | Sometimes (5–29%) | In 1 condition |
| SMAD3SMAD family member 3 | Sometimes (5–29%) | In 1 condition |
| SPRY4sprouty RTK signaling antagonist 4 | Sometimes (5–29%) | In 1 condition |
| TAC3tachykinin precursor 3 | Sometimes (5–29%) | In 1 condition |
| TACR3tachykinin receptor 3 | Sometimes (5–29%) | In 1 condition |
| TCTN3tectonic family member 3 | Sometimes (5–29%) | In 1 condition |
| THOC6THO complex subunit 6 | Sometimes (5–29%) | In 1 condition |
| TNNC2troponin C2, fast skeletal type | Sometimes (5–29%) | In 1 condition |
| WDR11WD repeat domain 11 | Sometimes (5–29%) | In 1 condition |
| ZEB2zinc finger E-box binding homeobox 2 | Sometimes (5–29%) | In 2 conditions |
| ZNF469zinc finger protein 469 | Sometimes (5–29%) | In 1 condition |
| CTCFCCCTC-binding factor | Rarely (1–4%) | In 1 condition |
| GJA5gap junction protein alpha 5 | Rarely (1–4%) | In 1 condition |
| GJA8gap junction protein alpha 8 | Rarely (1–4%) | In 1 condition |
| PTBP1polypyrimidine tract binding protein 1 | Rarely (1–4%) | In 1 condition |
| SETBP1SET binding protein 1 | Rarely (1–4%) | In 1 condition |
| SMSspermine synthase | Rarely (1–4%) | In 1 condition |
| STAC3SH3 and cysteine rich domain 3 | Rarely (1–4%) | In 1 condition |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Not recorded | In 1 condition |
| ALX3ALX homeobox 3 | Not recorded | In 1 condition |
| AMER1APC membrane recruitment protein 1 | Not recorded | In 1 condition |
| ASXL1ASXL transcriptional regulator 1 | Not recorded | In 1 condition |
| ATAD1ATPase family AAA domain containing 1 | Not recorded | In 1 condition |
| BCORBCL6 corepressor | Not recorded | In 1 condition |
| BGNbiglycan | Not recorded | In 1 condition |
| BLTP1bridge-like lipid transfer protein family member 1 | Not recorded | In 1 condition |
| CCBE1collagen and calcium binding EGF domains 1 | Not recorded | In 1 condition |
| CDH3cadherin 3 | Not recorded | In 1 condition |
| CNTN1contactin 1 | Not recorded | In 1 condition |
| COL11A1collagen type XI alpha 1 chain | Not recorded | In 1 condition |
| COL3A1collagen type III alpha 1 chain | Not recorded | In 1 condition |
| CRLF1cytokine receptor like factor 1 | Not recorded | In 1 condition |
| DSEdermatan sulfate epimerase | Not recorded | In 1 condition |
| DYMdymeclin | 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 |
| FGFR2fibroblast growth factor receptor 2 | Not recorded | In 1 condition |
| GORABgolgin, RAB6 interacting | Not recorded | In 1 condition |
| HOXD13homeobox D13 | Not recorded | In 1 condition |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Not recorded | In 1 condition |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Not recorded | In 1 condition |
| MED12mediator complex subunit 12 | Not recorded | In 1 condition |
| MYBPC1myosin binding protein C1 | Not recorded | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Not recorded | In 1 condition |
| ORC1origin recognition complex subunit 1 | Not recorded | In 1 condition |
| ORC4origin recognition complex subunit 4 | Not recorded | In 1 condition |
| OSGEPO-sialoglycoprotein endopeptidase | Not recorded | In 1 condition |
| PEX2peroxisomal biogenesis factor 2 | Not recorded | In 1 condition |
| PEX5peroxisomal biogenesis factor 5 | Not recorded | In 1 condition |
| PHGDHphosphoglycerate dehydrogenase | Not recorded | In 1 condition |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Not recorded | In 1 condition |
| PQBP1polyglutamine binding protein 1 | Not recorded | In 1 condition |
| RAB23RAB23, member RAS oncogene family | Not recorded | In 1 condition |
| SATB2SATB homeobox 2 | Not recorded | In 1 condition |
| SMAD4SMAD family member 4 | Not recorded | In 1 condition |
| SPARTspartin | Not recorded | In 1 condition |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Not recorded | In 1 condition |
| TBC1D32TBC1 domain family member 32 | Not recorded | In 1 condition |
| TBX15T-box transcription factor 15 | Not recorded | In 1 condition |
| TGDSTDP-glucose 4,6-dehydratase | Not recorded | In 1 condition |
| TNNT3troponin T3, fast skeletal type | Not recorded | In 1 condition |
| TP63tumor protein p63 | Not recorded | In 1 condition |
| WDR73WD repeat domain 73 | Not recorded | In 1 condition |
| WIPI2WD repeat domain, phosphoinositide interacting 2 | Not recorded | In 1 condition |
| ZC4H2zinc finger C4H2-type containing | 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.
Narrower traits
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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