Tunnus
Short finger
Abnormally short finger associated with developmental hypoplasia.
Kokkuvõte
- Teised nimetused
- Stubby finger, Hypoplastic digits, Hypoplastic fingers, Hypoplastic/small fingers, Stubby fingers
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Short finger, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test75 geeni on seotud tunnusega Short finger
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Short finger. 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 |
|---|---|---|
| ACANaggrecan | Alati | Esineb 1 haiguses |
| DDR2discoidin domain receptor tyrosine kinase 2 | Alati | Esineb 1 haiguses |
| FBN1fibrillin 1 | Alati | Esineb 1 haiguses |
| FLNAfilamin A | Alati | Esineb 1 haiguses |
| FLNBfilamin B | Alati | Esineb 1 haiguses |
| GPC3glypican 3 | Alati | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Alati | Esineb 1 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alati | Esineb 1 haiguses |
| PPOXprotoporphyrinogen oxidase | Alati | Esineb 1 haiguses |
| PRKG2protein kinase cGMP-dependent 2 | Alati | Esineb 1 haiguses |
| TBL1XR1TBL1X/Y related 1 | Alati | Esineb 2 haiguses |
| FIG4FIG4 phosphoinositide 5-phosphatase | Väga sageli (80–99%) | Esineb 2 haiguses |
| SLC26A2solute carrier family 26 member 2 | Väga sageli (80–99%) | Esineb 3 haiguses |
| ASPHaspartate beta-hydroxylase | Sageli (30–79%) | Esineb 1 haiguses |
| CTSKcathepsin K | Sageli (30–79%) | Esineb 1 haiguses |
| LBRlamin B receptor | Sageli (30–79%) | Esineb 1 haiguses |
| LMNB2lamin B2 | Sageli (30–79%) | Esineb 1 haiguses |
| MCTP2multiple C2 and transmembrane domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| OFD1OFD1 centriole and centriolar satellite protein | Sageli (30–79%) | Esineb 1 haiguses |
| RYR3ryanodine receptor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TNXBtenascin XB | Sageli (30–79%) | Esineb 1 haiguses |
| VAC14VAC14 component of PIKFYVE complex | Sageli (30–79%) | Esineb 1 haiguses |
| ALMS1ALMS1 centrosome and basal body associated protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDC42BPBCDC42 binding protein kinase beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| HESX1HESX homeobox 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| IGF1Rinsulin like growth factor 1 receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| LHX3LIM homeobox 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LHX4LIM homeobox 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| POU1F1POU class 1 homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PROP1PROP paired-like homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPL10ribosomal protein L10 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ZMYM2zinc finger MYM-type containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARXaristaless related homeobox | Harva (1–4%) | Esineb 1 haiguses |
| ASAH1N-acylsphingosine amidohydrolase 1 | Harva (1–4%) | Esineb 1 haiguses |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Harva (1–4%) | Esineb 1 haiguses |
| CASKcalcium/calmodulin dependent serine protein kinase | Harva (1–4%) | Esineb 1 haiguses |
| CDKL5cyclin dependent kinase like 5 | Harva (1–4%) | Esineb 1 haiguses |
Näita veel 35 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| DMXL2Dmx like 2 | Harva (1–4%) | Esineb 1 haiguses |
| GNAO1G protein subunit alpha o1 | Harva (1–4%) | Esineb 1 haiguses |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Harva (1–4%) | Esineb 1 haiguses |
| GRM7glutamate metabotropic receptor 7 | Harva (1–4%) | Esineb 1 haiguses |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Harva (1–4%) | Esineb 1 haiguses |
| LGI1leucine rich glioma inactivated 1 | Harva (1–4%) | Esineb 1 haiguses |
| NEUROD2neuronal differentiation 2 | Harva (1–4%) | Esineb 1 haiguses |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Harva (1–4%) | Esineb 1 haiguses |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Harva (1–4%) | Esineb 1 haiguses |
| PNKPpolynucleotide kinase 3'-phosphatase | Harva (1–4%) | Esineb 1 haiguses |
| RHOBTB2Rho related BTB domain containing 2 | Harva (1–4%) | Esineb 1 haiguses |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Harva (1–4%) | Esineb 1 haiguses |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Harva (1–4%) | Esineb 1 haiguses |
| SIK1salt inducible kinase 1 | Harva (1–4%) | Esineb 1 haiguses |
| SLC25A22solute carrier family 25 member 22 | Harva (1–4%) | Esineb 1 haiguses |
| SLC32A1solute carrier family 32 member 1 | Harva (1–4%) | Esineb 1 haiguses |
| TRIM8tripartite motif containing 8 | Harva (1–4%) | Esineb 1 haiguses |
| ABCA12ATP binding cassette subfamily A member 12 | Pole registreeritud | Esineb 1 haiguses |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Pole registreeritud | Esineb 1 haiguses |
| BMPR1Bbone morphogenetic protein receptor type 1B | Pole registreeritud | Esineb 1 haiguses |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Pole registreeritud | Esineb 1 haiguses |
| CHRNDcholinergic receptor nicotinic delta subunit | Pole registreeritud | Esineb 1 haiguses |
| CHRNGcholinergic receptor nicotinic gamma subunit | Pole registreeritud | Esineb 1 haiguses |
| GNASGNAS complex locus | Pole registreeritud | Esineb 1 haiguses |
| GPX4glutathione peroxidase 4 | Pole registreeritud | Esineb 1 haiguses |
| LRP4LDL receptor related protein 4 | Pole registreeritud | Esineb 1 haiguses |
| NOGnoggin | Pole registreeritud | Esineb 1 haiguses |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Pole registreeritud | Esineb 1 haiguses |
| PORCNporcupine O-acyltransferase | Pole registreeritud | Esineb 1 haiguses |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Pole registreeritud | Esineb 1 haiguses |
| SMAD4SMAD family member 4 | Pole registreeritud | Esineb 1 haiguses |
| TCTN3tectonic family member 3 | Pole registreeritud | Esineb 1 haiguses |
| TRPS1transcriptional repressor GATA binding 1 | Pole registreeritud | Esineb 1 haiguses |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Pole registreeritud | Esineb 1 haiguses |
| ZMIZ1zinc finger MIZ-type containing 1 | 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.
Kitsamad tunnused
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.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast