Tunnus
Abnormality of the ribs
Kliiniline nimetus: Abnormal rib morphology
An anomaly of the rib.
Kokkuvõte
- Teised nimetused
- Rib abnormalities, Rib anomalies
- Kehasüsteem
- Abnormality of the musculoskeletal system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Abnormality of the ribs, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test94 geeni on seotud tunnusega Abnormality of the ribs
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Abnormality of the ribs. 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 |
|---|---|---|
| CEP120centrosomal protein 120 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CLCN7Cl-/H+ antiporter 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL11A1collagen type XI alpha 1 chain | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL11A2collagen type XI alpha 2 chain | Väga sageli (80–99%) | Esineb 1 haiguses |
| CRTAPcartilage associated protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| DLL3delta like canonical Notch ligand 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DYNC2I1dynein 2 intermediate chain 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DYNC2I2dynein 2 intermediate chain 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GPC3glypican 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GPC4glypican 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GPX4glutathione peroxidase 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HES7hes family bHLH transcription factor 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IFT172intraflagellar transport 172 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IFT80intraflagellar transport 80 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KIAA0753KIAA0753 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| LRP5LDL receptor related protein 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MESP2mesoderm posterior bHLH transcription factor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| P4HBprolyl 4-hydroxylase subunit beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| PTCH1patched 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| RIPPLY2ripply transcriptional repressor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SEC24DSEC24 homolog D, COPII component | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC26A2solute carrier family 26 member 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SMAD4SMAD family member 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SNX10sorting nexin 10 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SOSTsclerostin | Väga sageli (80–99%) | Esineb 1 haiguses |
| SP7Sp7 transcription factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| TBX6T-box transcription factor 6 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TNFSF11TNF superfamily member 11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TTC21Btetratricopeptide repeat domain 21B | Väga sageli (80–99%) | Esineb 1 haiguses |
| WDR19WD repeat domain 19 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDC45cell division cycle 45 | Sageli (30–79%) | Esineb 1 haiguses |
| CDC6cell division cycle 6 | Sageli (30–79%) | Esineb 1 haiguses |
| CDONcell adhesion associated, oncogene regulated | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 54 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| CDT1chromatin licensing and DNA replication factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CHRM3cholinergic receptor muscarinic 3 | Sageli (30–79%) | Esineb 1 haiguses |
| CRIPTOcripto, EGF-CFC family member | Sageli (30–79%) | Esineb 1 haiguses |
| DISP1dispatched RND transporter family member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DLL1delta like canonical Notch ligand 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| FGF8fibroblast growth factor 8 | Sageli (30–79%) | Esineb 1 haiguses |
| FLNAfilamin A | Sageli (30–79%) | Esineb 2 haiguses |
| FOXH1forkhead box H1 | Sageli (30–79%) | Esineb 1 haiguses |
| GAS1growth arrest specific 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GDF3growth differentiation factor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| GDF6growth differentiation factor 6 | Sageli (30–79%) | Esineb 2 haiguses |
| GLE1GLE1 RNA export mediator | Sageli (30–79%) | Esineb 1 haiguses |
| GLI2GLI family zinc finger 2 | Sageli (30–79%) | Esineb 1 haiguses |
| GMNNgeminin DNA replication inhibitor | Sageli (30–79%) | Esineb 1 haiguses |
| HNF1BHNF1 homeobox B | Sageli (30–79%) | Esineb 1 haiguses |
| IDUAalpha-L-iduronidase | Sageli (30–79%) | Esineb 1 haiguses |
| IRF6interferon regulatory factor 6 | Sageli (30–79%) | Esineb 1 haiguses |
| MEOX1mesenchyme homeobox 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NODALnodal growth differentiation factor | Sageli (30–79%) | Esineb 1 haiguses |
| ORC1origin recognition complex subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ORC4origin recognition complex subunit 4 | Sageli (30–79%) | Esineb 1 haiguses |
| ORC6origin recognition complex subunit 6 | Sageli (30–79%) | Esineb 1 haiguses |
| PTCH2patched 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RSPO2R-spondin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RUNX2RUNX family transcription factor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SHHsonic hedgehog signaling molecule | Sageli (30–79%) | Esineb 1 haiguses |
| SIX3SIX homeobox 3 | Sageli (30–79%) | Esineb 1 haiguses |
| STILSTIL centriolar assembly protein | Sageli (30–79%) | Esineb 1 haiguses |
| SUFUSUFU negative regulator of hedgehog signaling | Sageli (30–79%) | Esineb 1 haiguses |
| TBX4T-box transcription factor 4 | Sageli (30–79%) | Esineb 1 haiguses |
| TGIF1TGFB induced factor homeobox 1 | Sageli (30–79%) | Esineb 1 haiguses |
| WNT3Wnt family member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| WNT4Wnt family member 4 | Sageli (30–79%) | Esineb 1 haiguses |
| ZIC2Zic family zinc finger 2 | Sageli (30–79%) | Esineb 1 haiguses |
| APCAPC regulator of Wnt signaling pathway | Mõnikord (5–29%) | Esineb 1 haiguses |
| CHD7chromodomain helicase DNA binding protein 7 | Mõnikord (5–29%) | Esineb 2 haiguses |
| DACT1dishevelled binding antagonist of beta catenin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHCR77-dehydrocholesterol reductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| FERMT1FERM domain containing kindlin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HOXD13homeobox D13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRP4LDL receptor related protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PORcytochrome p450 oxidoreductase | Mõnikord (5–29%) | Esineb 1 haiguses |
| PORCNporcupine O-acyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Mõnikord (5–29%) | Esineb 1 haiguses |
| SALL1spalt like transcription factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEMA3Esemaphorin 3E | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBX5T-box transcription factor 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FRAS1Fraser extracellular matrix complex subunit 1 | Harva (1–4%) | Esineb 1 haiguses |
| FREM2FRAS1 related extracellular matrix 2 | Harva (1–4%) | Esineb 1 haiguses |
| GRIP1glutamate receptor interacting protein 1 | Harva (1–4%) | Esineb 1 haiguses |
| JAG1jagged canonical Notch ligand 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
- Thin ribs54 geeni
- Rib fusion48 geeni
- Broad ribs25 geeni
- Cleft ribs18 geeni
- Extra ribs18 geeni
- Horizontal ribs17 geeni
- Rib segmentation abnormalities13 geeni
- Multiple rib fractures11 geeni
- Flaring of rib cage8 geeni
- Cupped ribs7 geeni
- Thickened ribs7 geeni
- Wavy ribs5 geeni
- Abnormality of the costochondral junction4 geeni
- Coat hanger sign of ribs4 geeni
- Rib exostoses4 geeni
- Absent/small ribs3 geeni
- Fractured rib2 geeni
- Rib spur2 geeni
- Anomalous rib insertion to vertebrae1 geen
- Prominent floating ribs1 geen
- Rib gap1 geen
- Rib osteolysis1 geen
- Abnormal maturation of rib bones
- Calcification of ribs
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