형질
Pes valgus
An outward (valgus) deviation of the calcaneus relative to the longitudinal axis of the lower leg at the talocalcaneal (subtalar) joint, such that the heel is everted.
요약
- 다른 명칭
- Valgus foot deformity
- 신체 계통
- Abnormality of limbs
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library(jsonlite)
url <- "https://dantelabs.com/traits/pes-valgus.json"
page <- fromJSON(url)
page$trait$name54 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Congenital Muscular DystrophiesReads 6 of these genesCOL12A1COL6A1COL6A2COL6A3LARGE1TRIP4About this report →
- DeSanto-Shinawi SyndromeReads 1 of these genesWACAbout this report →
- Dravet SyndromeReads 1 of these genesSCN1AAbout this report →
- EBF3-Related Neurodevelopmental Disorder (HADDS)Reads 1 of these genesEBF3About this report →
Show 50 more reports
- FDXR-Related Mitochondrial DisorderReads 1 of these genesFDXRAbout this report →
- SCN4A-Related Congenital MyopathyReads 1 of these genesSCN4AAbout this report →
- Carey-Fineman-Ziter SyndromeReads 1 of these genesMYMXAbout this report →
- Congenital MyopathiesReads 3 of these genesMYPNTPM2TPM3About this report →
- Epilepsy (Full Panel)Reads 9 of these genesFLNAGABRA1GABRG2PCDH19RNU2-2SCN1AAbout this report →
- Intellectual DisabilityReads 9 of these genesTCF4HNRNPRMBD5PUF60SLC16A2PCDH19About this report →
- Familial Hemiplegic MigraineReads 1 of these genesSCN1AAbout this report →
- Familial Periodic ParalysisReads 1 of these genesSCN4AAbout this report →
- Thyroid Hormone Resistance, Transport & Metabolism DefectsReads 1 of these genesSLC16A2About this report →
- Spinal Muscular AtrophyReads 3 of these genesBSCL2GARS1REEP1About this report →
- Charcot-Marie-Tooth DiseaseReads 5 of these genesBSCL2GARS1HK1REEP1SH3TC2About this report →
- Limb-Girdle Muscular DystrophyReads 3 of these genesCOL6A1COL6A2COL6A3About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 3 of these genesTOR1ACOL6A3SCN4AAbout this report →
- Achondrogenesis panelReads 1 of these genesGDF5About this report →
- Hereditary Episodic AtaxiasReads 1 of these genesSCN2AAbout this report →
- Multiple Synostoses Syndrome (FGF9)Reads 1 of these genesGDF5About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 1 of these genesNSD1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 7 of these genesFDXRBSCL2GARS1HK1REEP1SCN9AAbout this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- Hypertrophic CardiomyopathyReads 3 of these genesNSD1MYPNSPRED2About this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 1 of these genesWDR19About this report →
- Hereditary Spastic ParaplegiaReads 3 of these genesBSCL2CAPN1REEP1About this report →
- Familial Glucocorticoid DeficiencyReads 1 of these genesNDC1About this report →
- Pyruvate Kinase Deficiency and Other Red Cell Enzyme DisordersReads 1 of these genesHK1About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 1 of these genesCOL9A3About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 1 of these genesNSD1About this report →
- Long QT SyndromeReads 1 of these genesCACNA1CAbout this report →
- Marfan Like SyndromesReads 1 of these genesFBN1About this report →
- HyperinsulinismReads 1 of these genesHK1About this report →
- LipodystrophyReads 1 of these genesBSCL2About this report →
- Dilated CardiomyopathyReads 2 of these genesBAG3MYPNAbout this report →
- Aortic AneurysmReads 1 of these genesFBN1About this report →
- Inherited Congenital Heart DefectsReads 1 of these genesFLNAAbout this report →
- Myofibrillar MyopathiesReads 1 of these genesBAG3About this report →
- Inherited Neurodegenerative DisordersReads 5 of these genesTRIP4BSCL2CAPN1GARS1REEP1About this report →
- Hereditary Corneal DystrophiesReads 1 of these genesTCF4About this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPIGGAbout this report →
- Neonatal Diabetes MellitusReads 1 of these genesBSCL2About this report →
- Nephronophthisis and Senior-Løken SyndromeReads 1 of these genesWDR19About this report →
- Ehlers-Danlos SyndromeReads 1 of these genesCOL12A1About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesSCN9AAbout this report →
- Noonan SyndromeReads 1 of these genesSPRED2About this report →
- Syndromic CraniosynostosisReads 1 of these genesWDR19About this report →
- Congenital Disorders of GlycosylationReads 2 of these genesRFT1PIGGAbout this report →
- Congenital Myasthenic SyndromeReads 1 of these genesSCN4AAbout this report →
- VitreoretinopathyReads 1 of these genesCOL9A3About this report →
- Diabetes MellitusReads 1 of these genesBSCL2About this report →
- Osteogenesis ImperfectaReads 1 of these genesKDELR2About this report →
- Retinitis PigmentosaReads 1 of these genesHK1About this report →
연관 유전자 64개: Pes valgus
이 유전자들의 변화는 Pes valgus 증상이 나타나는 희귀 질환을 일으킵니다. 이 형질을 가진 대부분의 사람에게는 이러한 질환이 없으며, 이 목록에 있는 유전자가 누구의 개인 유전체에 대해서도 말해 주는 것은 없습니다.
| 유전자 | 나타나는 빈도 | 질환 |
|---|---|---|
| COL9A3collagen type IX alpha 3 chain | 항상 | 질환 1개에서 나타남 |
| COPZ1coat protein complex I subunit zeta 1 | 항상 | 질환 1개에서 나타남 |
| FBN1fibrillin 1 | 항상 | 질환 1개에서 나타남 |
| FDXRferredoxin reductase | 항상 | 질환 1개에서 나타남 |
| FEM1Bfem-1 homolog B | 항상 | 질환 1개에서 나타남 |
| GTF3C3general transcription factor IIIC subunit 3 | 항상 | 질환 1개에서 나타남 |
| LONP1lon peptidase 1, mitochondrial | 항상 | 질환 1개에서 나타남 |
| MED16mediator complex subunit 16 | 항상 | 질환 1개에서 나타남 |
| MYMXmyomixer, myoblast fusion factor | 항상 | 질환 1개에서 나타남 |
| NDC1NDC1 transmembrane nucleoporin | 항상 | 질환 1개에서 나타남 |
| RFT1RFT1 glycolipid translocator homolog | 항상 | 질환 1개에서 나타남 |
| TOR1Atorsin family 1 member A | 항상 | 질환 1개에서 나타남 |
| WDR19WD repeat domain 19 | 항상 | 질환 2개에서 나타남 |
| NSD1nuclear receptor binding SET domain protein 1 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| TCF4transcription factor 4 | 매우 자주 (80–99%) | 질환 2개에서 나타남 |
| ANO1anoctamin 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| BAG3BAG cochaperone 3 | 자주 (30–79%) | 질환 1개에서 나타남 |
| COL12A1collagen type XII alpha 1 chain | 자주 (30–79%) | 질환 1개에서 나타남 |
| COL6A1collagen type VI alpha 1 chain | 자주 (30–79%) | 질환 1개에서 나타남 |
| COL6A2collagen type VI alpha 2 chain | 자주 (30–79%) | 질환 2개에서 나타남 |
| COL6A3collagen type VI alpha 3 chain | 자주 (30–79%) | 질환 1개에서 나타남 |
| FLNAfilamin A | 자주 (30–79%) | 질환 1개에서 나타남 |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | 자주 (30–79%) | 질환 1개에서 나타남 |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | 자주 (30–79%) | 질환 1개에서 나타남 |
| MBD5methyl-CpG binding domain protein 5 | 자주 (30–79%) | 질환 1개에서 나타남 |
| PUF60poly(U) binding splicing factor 60 | 자주 (30–79%) | 질환 1개에서 나타남 |
| SLC16A2solute carrier family 16 member 2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| SMG9SMG9 nonsense mediated mRNA decay factor | 자주 (30–79%) | 질환 1개에서 나타남 |
| TRIP4thyroid hormone receptor interactor 4 | 자주 (30–79%) | 질환 2개에서 나타남 |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | 가끔 (5–29%) | 질환 1개에서 나타남 |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | 가끔 (5–29%) | 질환 1개에서 나타남 |
| CAPN1calpain 1 | 가끔 (5–29%) | 질환 2개에서 나타남 |
| CDC42BPBCDC42 binding protein kinase beta | 가끔 (5–29%) | 질환 1개에서 나타남 |
| EBF3EBF transcription factor 3 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| GARS1glycyl-tRNA synthetase 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| GNB2G protein subunit beta 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| H4C5H4 clustered histone 5 | 가끔 (5–29%) | 질환 1개에서 나타남 |
유전자 24개 더 보기
| 유전자 | 나타나는 빈도 | 질환 |
|---|---|---|
| HK1hexokinase 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| KDELR2KDEL endoplasmic reticulum protein retention receptor 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| LRRC7leucine rich repeat containing 7 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| MYPNmyopalladin | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PCDH19protocadherin 19 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | 가끔 (5–29%) | 질환 1개에서 나타남 |
| RAI1retinoic acid induced 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| REEP1receptor accessory protein 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| RNU2-2RNA, U2 small nuclear 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SCN1Asodium voltage-gated channel alpha subunit 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SCN1Bsodium voltage-gated channel beta subunit 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SCN2Asodium voltage-gated channel alpha subunit 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SCN4Asodium voltage-gated channel alpha subunit 4 | 가끔 (5–29%) | 질환 2개에서 나타남 |
| SCN9Asodium voltage-gated channel alpha subunit 9 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SMOC1SPARC related modular calcium binding 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SPRED2sprouty related EVH1 domain containing 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SYT1synaptotagmin 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| TPM2tropomyosin 2 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| TPM3tropomyosin 3 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| TRMT10AtRNA methyltransferase 10A | 가끔 (5–29%) | 질환 1개에서 나타남 |
| WACWW domain containing adaptor with coiled-coil | 가끔 (5–29%) | 질환 1개에서 나타남 |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | 드물게 (1–4%) | 질환 1개에서 나타남 |
| GDF5growth differentiation factor 5 | 기록되지 않음 | 질환 1개에서 나타남 |
Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.
상위 형질
출처
- Human Phenotype Ontology, 버전 2026-09-01: 특징, 명칭, 정의 및 이와 연결된 유전자입니다. 자세한 내용은 hpo.jax.org에서 확인하실 수 있습니다.
- 데이터 버전 2026.10.19-9814e911.
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