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PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymis
Inward turned thumb
Klinikinis pavadinimas: Adducted thumb
In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger.
Santrauka
- Taip pat vadinama
- Adducted thumbs, Thumb-in-palm deformity, Thumb-in-palm pattern
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Ši puslapis kaip duomenys
Norėdami perskaityti jį kaip JSON, pridėkite .json prie puslapio adreso arba nurodykite application/json.
library(jsonlite)
url <- "https://dantelabs.com/traits/adducted-thumb.json"
page <- fromJSON(url)
page$trait$nameInward turned thumbHP:0001181
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Vienu tyrimu sužinokite genus, susijusius su Inward turned thumb, ir kitą jūsų genomo dalį.
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Įsigyti savo Genome Test49 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 MyopathiesReads 6 of these genesTPM2ACTA1KLHL40KLHL41LMOD3NEBAbout this report →
- Alkuraya-Kucinskas SyndromeReads 1 of these genesBLTP1About this report →
- Basilicata-Akhtar SyndromeReads 1 of these genesMSL3About this report →
- Catel-Manzke SyndromeReads 1 of these genesTGDSAbout this report →
Show 45 more reports
- Christianson SyndromeReads 1 of these genesSLC9A6About this report →
- KCNH1-Related DisorderReads 1 of these genesKCNH1About this report →
- L1 SyndromeReads 1 of these genesL1CAMAbout this report →
- Mowat-Wilson SyndromeReads 1 of these genesZEB2About this report →
- NDE1-Related MicrolissencephalyReads 1 of these genesNDE1About this report →
- P5CS Deficiency (ALDH18A1-Related)Reads 1 of these genesALDH18A1About this report →
- Stüve-Wiedemann SyndromeReads 1 of these genesLIFRAbout this report →
- Turnpenny-Fry SyndromeReads 1 of these genesPCGF2About this report →
- Congenital Muscular DystrophiesReads 5 of these genesCOL12A1COL6A1COL6A2COL6A3CRPPAAbout this report →
- Congenital Disorders of GlycosylationReads 9 of these genesCOG7DSERFT1B3GALT6PIGYALG13About this report →
- Ehlers-Danlos SyndromeReads 4 of these genesDSEB3GALT6COL12A1CHST14About this report →
- Cutis LaxaReads 3 of these genesALDH18A1ELNFBLN5About this report →
- Marfan Like SyndromesReads 2 of these genesFBN1FBN2About this report →
- Lissencephaly Spectrum DisordersReads 3 of these genesKATNB1NDE1RELNAbout this report →
- Monogenic Precocious PubertyReads 1 of these genesDLK1About this report →
- Limb-Girdle Muscular DystrophyReads 3 of these genesCOL6A1COL6A2COL6A3About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 2 of these genesDSTCRLF1About this report →
- Chronic Granulomatous DiseaseReads 1 of these genesNCF1About this report →
- Nephrotic SyndromeReads 2 of these genesNUP107NUP133About this report →
- Hereditary Spastic ParaplegiaReads 3 of these genesAP4M1ALDH18A1L1CAMAbout this report →
- Inherited Neurodegenerative DisordersReads 7 of these genesNALCNSYNE1AP4M1ALDH18A1BICD2L1CAMAbout this report →
- Disorders of Glycine & Serine MetabolismReads 1 of these genesPHGDHAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 2 of these genesTOR1ACOL6A3About this report →
- Epilepsy (Full Panel)Reads 4 of these genesALG13GNB1RELNZEB2About this report →
- Aortic AneurysmReads 1 of these genesFBN1About this report →
- Inherited Congenital Heart DefectsReads 1 of these genesELNAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 2 of these genesSYNE1STUB1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 4 of these genesDSTBICD2FBLN5CRLF1About this report →
- Intellectual DisabilityReads 4 of these genesCREBBPGNB1ZEB2EP300About this report →
- Autosomal Recessive Primary MicrocephalyReads 1 of these genesANKLE2About this report →
- Epidermolysis BullosaReads 1 of these genesDSTAbout this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPIGYAbout this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 1 of these genesEXOSC9About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 1 of these genesRNU4-2About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesERCC1About this report →
- Spinal Muscular AtrophyReads 1 of these genesBICD2About this report →
- Inherited ThrombocytopeniasReads 1 of these genesRBM8AAbout this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 1 of these genesSTUB1About this report →
- DNA Repair DiseaseReads 1 of these genesERCC1About this report →
- Male InfertilityReads 1 of these genesFKBP6About this report →
- Dilated CardiomyopathyReads 1 of these genesSYNE1About this report →
- Female InfertilityReads 1 of these genesNUP107About this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesFBLN5About this report →
- Primary Mitochondrial DiseaseReads 1 of these genesDNAJC30About this report →
- Other Inborn Errors of ImmunityReads 1 of these genesNCF1About this report →
Vienu tyrimu sužinokite genus, susijusius su Inward turned thumb, ir kitą jūsų genomo dalį.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test105 genų susiję su Inward turned thumb
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Inward turned thumb. 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 |
|---|---|---|
| CHASERRCHD2 adjacent suppressive regulatory RNA | Visada | 1 ligoje |
| COG7component of oligomeric golgi complex 7 | Visada | 2 ligose |
| DSEdermatan sulfate epimerase | Visada | 1 ligoje |
| DSTdystonin | Visada | 1 ligoje |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Visada | 1 ligoje |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Visada | 1 ligoje |
| MOCS3molybdenum cofactor synthesis 3 | Visada | 1 ligoje |
| MYH3myosin heavy chain 3 | Visada | 4 ligose |
| NALCNsodium leak channel, non-selective | Visada | 4 ligose |
| RBM8ARNA binding motif protein 8A | Visada | 2 ligose |
| RFT1RFT1 glycolipid translocator homolog | Visada | 1 ligoje |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Visada | 2 ligose |
| TOR1Atorsin family 1 member A | Visada | 1 ligoje |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Labai dažnai (80–99%) | 1 ligoje |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Labai dažnai (80–99%) | 1 ligoje |
| FBN1fibrillin 1 | Labai dažnai (80–99%) | 1 ligoje |
| MYBPC1myosin binding protein C1 | Labai dažnai (80–99%) | 1 ligoje |
| TNNI2troponin I2, fast skeletal type | Labai dažnai (80–99%) | 2 ligose |
| TNNT3troponin T3, fast skeletal type | Labai dažnai (80–99%) | 3 ligose |
| TPM2tropomyosin 2 | Labai dažnai (80–99%) | 3 ligose |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Dažnai (30–79%) | 3 ligose |
| B3GALT6beta-1,3-galactosyltransferase 6 | Dažnai (30–79%) | 1 ligoje |
| BICD2BICD cargo adaptor 2 | Dažnai (30–79%) | 1 ligoje |
| CHST11carbohydrate sulfotransferase 11 | Dažnai (30–79%) | 1 ligoje |
| COL12A1collagen type XII alpha 1 chain | Dažnai (30–79%) | 2 ligose |
| COL6A1collagen type VI alpha 1 chain | Dažnai (30–79%) | 1 ligoje |
| COL6A2collagen type VI alpha 2 chain | Dažnai (30–79%) | 2 ligose |
| COL6A3collagen type VI alpha 3 chain | Dažnai (30–79%) | 1 ligoje |
| DPH2diphthamide biosynthesis 2 | Dažnai (30–79%) | 1 ligoje |
| EXOSC9exosome component 9 | Dažnai (30–79%) | 1 ligoje |
| FBN2fibrillin 2 | Dažnai (30–79%) | 1 ligoje |
| L1CAML1 cell adhesion molecule | Dažnai (30–79%) | 4 ligose |
| NEK9NIMA related kinase 9 | Dažnai (30–79%) | 1 ligoje |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Dažnai (30–79%) | 1 ligoje |
| SLC35B2solute carrier family 35 member B2 | Dažnai (30–79%) | 1 ligoje |
| SLC9A6solute carrier family 9 member A6 | Dažnai (30–79%) | 2 ligose |
| STUB1STIP1 homology and U-box containing protein 1 | Dažnai (30–79%) | 1 ligoje |
| ACTA1actin alpha 1, skeletal muscle | Kartais (5–29%) | 1 ligoje |
| ADGRG6adhesion G protein-coupled receptor G6 | Kartais (5–29%) | 1 ligoje |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Kartais (5–29%) | 1 ligoje |
Rodyti dar 65 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Kartais (5–29%) | 1 ligoje |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Kartais (5–29%) | 1 ligoje |
| CLIP2CAP-Gly domain containing linker protein 2 | Kartais (5–29%) | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Kartais (5–29%) | 1 ligoje |
| DLK1delta like non-canonical Notch ligand 1 | Kartais (5–29%) | 1 ligoje |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Kartais (5–29%) | 1 ligoje |
| EIF4Heukaryotic translation initiation factor 4H | Kartais (5–29%) | 1 ligoje |
| ELNelastin | Kartais (5–29%) | 2 ligose |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Kartais (5–29%) | 1 ligoje |
| FBLN5fibulin 5 | Kartais (5–29%) | 1 ligoje |
| FILIP1filamin A interacting protein 1 | Kartais (5–29%) | 1 ligoje |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Kartais (5–29%) | 1 ligoje |
| GNB1G protein subunit beta 1 | Kartais (5–29%) | 1 ligoje |
| GON7GON7 subunit of KEOPS complex | Kartais (5–29%) | 1 ligoje |
| GPKOWG-patch domain and KOW motifs | Kartais (5–29%) | 1 ligoje |
| GTF2Igeneral transcription factor IIi | Kartais (5–29%) | 1 ligoje |
| GTF2IRD1GTF2I repeat domain containing 1 | Kartais (5–29%) | 1 ligoje |
| GTF2IRD2GTF2I repeat domain containing 2 | Kartais (5–29%) | 1 ligoje |
| KATNB1katanin regulatory subunit B1 | Kartais (5–29%) | 1 ligoje |
| KLHL40kelch like family member 40 | Kartais (5–29%) | 1 ligoje |
| KLHL41kelch like family member 41 | Kartais (5–29%) | 1 ligoje |
| LAGE3L antigen family member 3 | Kartais (5–29%) | 1 ligoje |
| LIMK1LIM domain kinase 1 | Kartais (5–29%) | 1 ligoje |
| LMOD3leiomodin 3 | Kartais (5–29%) | 1 ligoje |
| MED25mediator complex subunit 25 | Kartais (5–29%) | 1 ligoje |
| MEG3maternally expressed 3 | Kartais (5–29%) | 1 ligoje |
| METTL27methyltransferase like 27 | Kartais (5–29%) | 1 ligoje |
| MSL3MSL complex subunit 3 | Kartais (5–29%) | 1 ligoje |
| MYL11myosin light chain 11 | Kartais (5–29%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Kartais (5–29%) | 1 ligoje |
| NDE1nudE neurodevelopment protein 1 | Kartais (5–29%) | 1 ligoje |
| NEBnebulin | Kartais (5–29%) | 2 ligose |
| NUP107nucleoporin 107 | Kartais (5–29%) | 1 ligoje |
| NUP133nucleoporin 133 | Kartais (5–29%) | 1 ligoje |
| OSGEPO-sialoglycoprotein endopeptidase | Kartais (5–29%) | 1 ligoje |
| PHGDHphosphoglycerate dehydrogenase | Kartais (5–29%) | 2 ligose |
| RELNreelin | Kartais (5–29%) | 1 ligoje |
| RFC2replication factor C subunit 2 | Kartais (5–29%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Kartais (5–29%) | 1 ligoje |
| SHMT2serine hydroxymethyltransferase 2 | Kartais (5–29%) | 1 ligoje |
| STX1Asyntaxin 1A | Kartais (5–29%) | 1 ligoje |
| TBL2transducin beta like 2 | Kartais (5–29%) | 1 ligoje |
| TGDSTDP-glucose 4,6-dehydratase | Kartais (5–29%) | 1 ligoje |
| TMEM270transmembrane protein 270 | Kartais (5–29%) | 1 ligoje |
| TP53RKTP53 regulating kinase | Kartais (5–29%) | 1 ligoje |
| TPRKBTP53RK binding protein | Kartais (5–29%) | 1 ligoje |
| VPS37DVPS37D subunit of ESCRT-I | Kartais (5–29%) | 1 ligoje |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Kartais (5–29%) | 1 ligoje |
| WDR73WD repeat domain 73 | Kartais (5–29%) | 1 ligoje |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Kartais (5–29%) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Kartais (5–29%) | 2 ligose |
| EP300EP300 lysine acetyltransferase | Retai (1–4 %) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Retai (1–4 %) | 1 ligoje |
| SMPD4sphingomyelin phosphodiesterase 4 | Retai (1–4 %) | 1 ligoje |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Neužfiksuota | 1 ligoje |
| ATAD1ATPase family AAA domain containing 1 | Neužfiksuota | 1 ligoje |
| BLTP1bridge-like lipid transfer protein family member 1 | Neužfiksuota | 1 ligoje |
| CHST14carbohydrate sulfotransferase 14 | Neužfiksuota | 1 ligoje |
| CRLF1cytokine receptor like factor 1 | Neužfiksuota | 1 ligoje |
| CRPPACDP-L-ribitol pyrophosphorylase A | Neužfiksuota | 1 ligoje |
| ECEL1endothelin converting enzyme like 1 | Neužfiksuota | 1 ligoje |
| LIFRLIF receptor subunit alpha | Neužfiksuota | 1 ligoje |
| PCGF2polycomb group ring finger 2 | Neužfiksuota | 1 ligoje |
| TAPT1transmembrane anterior posterior transformation 1 | Neužfiksuota | 1 ligoje |
| TDO2tryptophan 2,3-dioxygenase | 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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Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.19-9814e911.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
From traits to your genome
Read the genes behind these traits in your own DNA.
The Genome Test sequences nearly all of your DNA, not a preset panel, so every gene on these pages is in your data. Premium adds 810+ physician-ready reports.
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