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Tunnus
Split hand
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands.
Kokkuvõte
- Teised nimetused
- Split-hand, Ectrodactyly of the hand, Hand ectrodactyly
Split handHP:0001171
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Read the genes linked to Split hand, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test64 geeni on seotud tunnusega Split hand
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Split hand. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ARSBarylsulfatase B | Alati | Esineb 1 haiguses |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Alati | Esineb 2 haiguses |
| DLX5distal-less homeobox 5 | Alati | Esineb 3 haiguses |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Alati | Esineb 1 haiguses |
| PORCNporcupine O-acyltransferase | Alati | Esineb 1 haiguses |
| BHLHA9basic helix-loop-helix family member a9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TBX5T-box transcription factor 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TP63tumor protein p63 | Väga sageli (80–99%) | Esineb 6 haiguses |
| AHSGalpha 2-HS glycoprotein | Sageli (30–79%) | Esineb 1 haiguses |
| ARHGAP31Rho GTPase activating protein 31 | Sageli (30–79%) | Esineb 1 haiguses |
| CPLX1complexin 1 | Sageli (30–79%) | Esineb 2 haiguses |
| CTBP1C-terminal binding protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| DLG5discs large MAGUK scaffold protein 5 | Sageli (30–79%) | Esineb 1 haiguses |
| DLL4delta like canonical Notch ligand 4 | Sageli (30–79%) | Esineb 1 haiguses |
| DOCK6dedicator of cytokinesis 6 | Sageli (30–79%) | Esineb 1 haiguses |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Sageli (30–79%) | Esineb 1 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GDAP1ganglioside induced differentiation associated protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| GLI3GLI family zinc finger 3 | Sageli (30–79%) | Esineb 1 haiguses |
| ITGB6integrin subunit beta 6 | Sageli (30–79%) | Esineb 1 haiguses |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| LSSlanosterol synthase | Sageli (30–79%) | Esineb 1 haiguses |
| MCM3APminichromosome maintenance complex component 3 associated protein | Sageli (30–79%) | Esineb 1 haiguses |
| NELFAnegative elongation factor complex member A | Sageli (30–79%) | Esineb 1 haiguses |
| NOTCH1notch receptor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NSD2nuclear receptor binding SET domain protein 2 | Sageli (30–79%) | Esineb 2 haiguses |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Sageli (30–79%) | Esineb 1 haiguses |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Sageli (30–79%) | Esineb 1 haiguses |
| TCTN3tectonic family member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| WNT7AWnt family member 7A | Sageli (30–79%) | Esineb 1 haiguses |
| BTRCbeta-transducin repeat containing E3 ubiquitin protein ligase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDH3cadherin 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTSDcathepsin D | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHCR77-dehydrocholesterol reductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DLX6distal-less homeobox 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EPS15L1epidermal growth factor receptor pathway substrate 15 like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXW4F-box and WD repeat domain containing 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGFRL1fibroblast growth factor receptor like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Mõnikord (5–29%) | Esineb 2 haiguses |
Näita veel 24 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| IRF6interferon regulatory factor 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LEF1lymphoid enhancer binding factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MORC2MORC family CW-type zinc finger 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NDRG1N-myc downstream regulated 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NXNnucleoredoxin | Mõnikord (5–29%) | Esineb 1 haiguses |
| PMP22peripheral myelin protein 22 | Mõnikord (5–29%) | Esineb 4 haiguses |
| ROR2ROR family WNT receptor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEM1SEM1 26S proteasome subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| SVBPsmall vasohibin binding protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| WNT10BWnt family member 10B | Mõnikord (5–29%) | Esineb 2 haiguses |
| HINT1histidine triad nucleotide binding protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| CTDP1CTD phosphatase 1 | Pole registreeritud | Esineb 1 haiguses |
| EGR2early growth response 2 | Pole registreeritud | Esineb 1 haiguses |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Pole registreeritud | Esineb 1 haiguses |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Pole registreeritud | Esineb 1 haiguses |
| IDSiduronate 2-sulfatase | Pole registreeritud | Esineb 1 haiguses |
| JPH1junctophilin 1 | Pole registreeritud | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Pole registreeritud | Esineb 1 haiguses |
| MMP2matrix metallopeptidase 2 | Pole registreeritud | Esineb 1 haiguses |
| MPZmyelin protein zero | Pole registreeritud | Esineb 2 haiguses |
| NEFLneurofilament light chain | Pole registreeritud | Esineb 1 haiguses |
| PRXperiaxin | Pole registreeritud | Esineb 1 haiguses |
| SBF2SET binding factor 2 | Pole registreeritud | Esineb 1 haiguses |
| SLC52A2solute carrier family 52 member 2 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
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Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast