Özellik
Dislocated hip since birth
Klinik adı: Congenital hip dislocation
Özet
- Diğer adları
- Congenital dislocation of the hip, Congenital dislocation of the hips, Congenital hip anomaly, Congenital hip dislocations
Bu sayfanın veri olarak görünümü
Veriyi JSON olarak okumak için sayfa adresinin sonuna .json ekleyin veya application/json isteyin.
library(jsonlite)
url <- "https://dantelabs.com/traits/congenital-hip-dislocation.json"
page <- fromJSON(url)
page$trait$nameDislocated hip since birth ile bağlantılı genleri ve genomunuzun geri kalanını tek bir testle okuyun.
$449'den başlayanÜcretsiz kargo · Sonuçlar 6–8 hafta içinde
Genome Test'imi al52 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.
- Kabuki SyndromeReads 2 of these genesKDM6AKMT2DAbout this report →
- Congenital MyopathiesReads 6 of these genesRYR1ACTA1MAP3K20SELENONTPM2TPM3About this report →
- Cutis LaxaReads 5 of these genesATP6V0A2ATP6V1AATP6V1E1PYCR1ALDH18A1About this report →
- Branchio-Oto-Renal Spectrum DisorderReads 2 of these genesEYA1SIX1About this report →
Show 48 more reports
- Ehlers-Danlos SyndromeReads 5 of these genesPLOD1COL3A1PRDM5ZNF469COL5A2About this report →
- Dyssegmental Dysplasia, Silverman-Handmaker TypeReads 1 of these genesHSPG2About this report →
- Focal Dermal Hypoplasia (Goltz Syndrome)Reads 1 of these genesPORCNAbout this report →
- KAT6B-Related DisordersReads 1 of these genesKAT6BAbout this report →
- Kaufman Oculocerebrofacial SyndromeReads 1 of these genesUBE3BAbout this report →
- Miller Syndrome (Postaxial Acrofacial Dysostosis)Reads 1 of these genesDHODHAbout this report →
- NGLY1 DeficiencyReads 1 of these genesNGLY1About this report →
- P5CS Deficiency (ALDH18A1-Related)Reads 1 of these genesALDH18A1About this report →
- Schwartz-Jampel Syndrome Type 1Reads 1 of these genesHSPG2About this report →
- SCN4A-Related Congenital MyopathyReads 1 of these genesSCN4AAbout this report →
- Simpson-Golabi-Behmel SyndromeReads 1 of these genesGPC3About this report →
- Cantú SyndromeReads 1 of these genesABCC9About this report →
- Malignant Hyperthermia SusceptibilityReads 1 of these genesRYR1About this report →
- Congenital Anomalies of the Kidney and Urinary TractReads 2 of these genesEYA1SIX1About this report →
- Familial Periodic ParalysisReads 1 of these genesSCN4AAbout this report →
- Rothmund-Thomson SyndromeReads 1 of these genesRECQL4About this report →
- Congenital Muscular DystrophiesReads 3 of these genesCOL6A3ITGA7SELENONAbout this report →
- Intellectual DisabilityReads 7 of these genesAHDC1KDM6BNAA10NSDHLPPP2R5DPUF60About this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesFLNAAbout this report →
- Rare Inherited Bone Marrow Failure SyndromesReads 1 of these genesDNAJC21About this report →
- Osteogenesis ImperfectaReads 2 of these genesATP6V0A2PYCR1About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 2 of these genesSCN4ACOL6A3About this report →
- Heterotaxy & Laterality DefectsReads 1 of these genesZIC3About this report →
- Dilated CardiomyopathyReads 2 of these genesFHL1ABCC9About this report →
- Inherited Congenital Heart DefectsReads 1 of these genesFLNAAbout this report →
- Myofibrillar MyopathiesReads 1 of these genesRYR1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 4 of these genesFIG4IARS2DSTBICD2About this report →
- Inherited Neurodegenerative DisordersReads 5 of these genesFIG4ALDH3A2TBCDALDH18A1BICD2About this report →
- Epidermolysis BullosaReads 1 of these genesDSTAbout this report →
- Congenital HypothyroidismReads 1 of these genesTHRAAbout this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesDSTAbout this report →
- Bardet-Biedl and Alström SyndromesReads 1 of these genesMKKSAbout this report →
- Lissencephaly Spectrum DisordersReads 1 of these genesPAFAH1B1About this report →
- Syndromic CraniosynostosisReads 1 of these genesRECQL4About this report →
- Inherited IchthyosesReads 1 of these genesNSDHLAbout this report →
- Congenital Myasthenic SyndromeReads 1 of these genesSCN4AAbout this report →
- Spinal Muscular AtrophyReads 1 of these genesBICD2About this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesFIG4About this report →
- Thyroid CancerReads 1 of these genesTHRAAbout this report →
- Limb-Girdle Muscular DystrophyReads 1 of these genesCOL6A3About this report →
- Epilepsy (Full Panel)Reads 2 of these genesATP6V1AFLNAAbout this report →
- Hypertrophic CardiomyopathyReads 1 of these genesMYL2About this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesALDH18A1About this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesFIG4About this report →
- Other Inherited LeukodystrophiesReads 1 of these genesALDH3A2About this report →
- Hearing Loss and DeafnessReads 1 of these genesSIX1About this report →
- Congenital Disorders of GlycosylationReads 1 of these genesATP6V0A2About this report →
Dislocated hip since birth ile bağlantılı genleri ve genomunuzun geri kalanını tek bir testle okuyun.
$449'den başlayanÜcretsiz kargo · Sonuçlar 6–8 hafta içinde
Genome Test'imi alDislocated hip since birth ile ilişkili 77 gen
Bu genlerdeki değişiklikler, Dislocated hip since birth özelliğinin görüldüğü nadir durumlara yol açar. Bu özelliğe sahip çoğu kişide bu durumlardan hiçbiri yoktur; ayrıca bu listedeki bir gen, kimsenin kendi genomu hakkında bir şey söylemez.
| Gen | Ne sıklıkla görüldüğü | Durumlar |
|---|---|---|
| AHDC1AT-hook DNA binding motif containing 1 | Her zaman | 1 durumda |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Her zaman | 4 durumda |
| ECEL1endothelin converting enzyme like 1 | Her zaman | 1 durumda |
| KDM6Blysine demethylase 6B | Her zaman | 1 durumda |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Her zaman | 1 durumda |
| SKOR2SKI family transcriptional corepressor 2 | Her zaman | 1 durumda |
| TBX15T-box transcription factor 15 | Her zaman | 1 durumda |
| TRIM33tripartite motif containing 33 | Her zaman | 2 durumda |
| ATP6V1AATPase H+ transporting V1 subunit A | Sık (%30–79) | 1 durumda |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Sık (%30–79) | 1 durumda |
| FHL1four and a half LIM domains 1 | Sık (%30–79) | 1 durumda |
| FIG4FIG4 phosphoinositide 5-phosphatase | Sık (%30–79) | 1 durumda |
| GEMIN4gem nuclear organelle associated protein 4 | Sık (%30–79) | 1 durumda |
| HDAC4histone deacetylase 4 | Sık (%30–79) | 1 durumda |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Sık (%30–79) | 1 durumda |
| LONP1lon peptidase 1, mitochondrial | Sık (%30–79) | 2 durumda |
| PLOD1procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Sık (%30–79) | 1 durumda |
| PYCR1pyrroline-5-carboxylate reductase 1 | Sık (%30–79) | 1 durumda |
| RYR1ryanodine receptor 1 | Sık (%30–79) | 2 durumda |
| WNT7AWnt family member 7A | Sık (%30–79) | 1 durumda |
| ABCC9ATP binding cassette subfamily C member 9 | Bazen (%5–29) | 1 durumda |
| ACTA1actin alpha 1, skeletal muscle | Bazen (%5–29) | 1 durumda |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Bazen (%5–29) | 1 durumda |
| CHRM3cholinergic receptor muscarinic 3 | Bazen (%5–29) | 2 durumda |
| CLCN3Cl-/H+ antiporter 3 | Bazen (%5–29) | 1 durumda |
| COL3A1collagen type III alpha 1 chain | Bazen (%5–29) | 1 durumda |
| COL6A3collagen type VI alpha 3 chain | Bazen (%5–29) | 1 durumda |
| CUL7cullin 7 | Bazen (%5–29) | 1 durumda |
| DSTdystonin | Bazen (%5–29) | 1 durumda |
| GPC3glypican 3 | Bazen (%5–29) | 1 durumda |
| GPC4glypican 4 | Bazen (%5–29) | 1 durumda |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Bazen (%5–29) | 1 durumda |
| ITGA7integrin subunit alpha 7 | Bazen (%5–29) | 1 durumda |
| KDM6Alysine demethylase 6A | Bazen (%5–29) | 1 durumda |
| KMT2Dlysine methyltransferase 2D | Bazen (%5–29) | 1 durumda |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Bazen (%5–29) | 1 durumda |
| MYL2myosin light chain 2 | Bazen (%5–29) | 1 durumda |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Bazen (%5–29) | 1 durumda |
| NGLY1N-glycanase 1 | Bazen (%5–29) | 1 durumda |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Bazen (%5–29) | 1 durumda |
37 gen daha göster
| Gen | Ne sıklıkla görüldüğü | Durumlar |
|---|---|---|
| OBSL1obscurin like cytoskeletal adaptor 1 | Bazen (%5–29) | 1 durumda |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Bazen (%5–29) | 1 durumda |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Bazen (%5–29) | 2 durumda |
| PRDM5PR/SET domain 5 | Bazen (%5–29) | 1 durumda |
| PTRH2peptidyl-tRNA hydrolase 2 | Bazen (%5–29) | 1 durumda |
| PUF60poly(U) binding splicing factor 60 | Bazen (%5–29) | 1 durumda |
| RBMXRNA binding motif protein X-linked | Bazen (%5–29) | 1 durumda |
| SELENONselenoprotein N | Bazen (%5–29) | 1 durumda |
| TPM2tropomyosin 2 | Bazen (%5–29) | 2 durumda |
| TPM3tropomyosin 3 | Bazen (%5–29) | 2 durumda |
| TSHZ3teashirt zinc finger homeobox 3 | Bazen (%5–29) | 1 durumda |
| USP9Xubiquitin specific peptidase 9 X-linked | Bazen (%5–29) | 1 durumda |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Bazen (%5–29) | 1 durumda |
| ZIC3Zic family zinc finger 3 | Bazen (%5–29) | 1 durumda |
| ZNF469zinc finger protein 469 | Bazen (%5–29) | 2 durumda |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Seyrek (%1–4) | 1 durumda |
| COL5A2collagen type V alpha 2 chain | Seyrek (%1–4) | 1 durumda |
| TBCDtubulin folding cofactor D | Seyrek (%1–4) | 1 durumda |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Kaydedilmedi | 1 durumda |
| BICD2BICD cargo adaptor 2 | Kaydedilmedi | 1 durumda |
| DHODHdihydroorotate dehydrogenase (quinone) | Kaydedilmedi | 1 durumda |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Kaydedilmedi | 1 durumda |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Kaydedilmedi | 1 durumda |
| FLNAfilamin A | Kaydedilmedi | 1 durumda |
| HSPG2heparan sulfate proteoglycan 2 | Kaydedilmedi | 1 durumda |
| KAT6Blysine acetyltransferase 6B | Kaydedilmedi | 1 durumda |
| KIF22kinesin family member 22 | Kaydedilmedi | 1 durumda |
| LRP1LDL receptor related protein 1 | Kaydedilmedi | 1 durumda |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Kaydedilmedi | 1 durumda |
| MKKSMKKS centrosomal shuttling protein | Kaydedilmedi | 1 durumda |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Kaydedilmedi | 1 durumda |
| PORCNporcupine O-acyltransferase | Kaydedilmedi | 1 durumda |
| RECQL4RecQ like helicase 4 | Kaydedilmedi | 1 durumda |
| SIX1SIX homeobox 1 | Kaydedilmedi | 1 durumda |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Kaydedilmedi | 1 durumda |
| THRAthyroid hormone receptor alpha | Kaydedilmedi | 1 durumda |
| UBE3Bubiquitin protein ligase E3B | Kaydedilmedi | 1 durumda |
Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.
Daha dar özellikler
Daha geniş özellikler
Bilgilerin kaynağı
- Human Phenotype Ontology, 2026-09-01 sürümü: özellik, adları, tanımı ve buna bağlı genler. Ayrıntılar için hpo.jax.org adresine bakın.
- Veri sürümü 2026.10.19-9814e911.
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Ücretsiz kargo · Sonuçlar 6–8 hafta içinde
