Požymis
Abnormal feet structure
Klinikinis pavadinimas: Abnormal foot morphology
An abnormality of the skeleton of foot.
Santrauka
- Taip pat vadinama
- Abnormality of the feet, Abnormality of the foot, Foot deformities, Foot deformity
- Kūno sistema
- Abnormality of limbs
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Abnormal feet structure. 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 |
|---|---|---|
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Visada | 1 ligoje |
| TAF2TATA-box binding protein associated factor 2 | Visada | 2 ligose |
| AEBP1AE binding protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| GDAP1ganglioside induced differentiation associated protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| HK1hexokinase 1 | Labai dažnai (80–99%) | 1 ligoje |
| LMNAlamin A/C | Labai dažnai (80–99%) | 2 ligose |
| MFN2mitofusin 2 | Labai dažnai (80–99%) | 1 ligoje |
| NEFLneurofilament light chain | Labai dažnai (80–99%) | 1 ligoje |
| PEX7peroxisomal biogenesis factor 7 | Labai dažnai (80–99%) | 1 ligoje |
| PHYHphytanoyl-CoA 2-hydroxylase | Labai dažnai (80–99%) | 1 ligoje |
| SBF2SET binding factor 2 | Labai dažnai (80–99%) | 1 ligoje |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Labai dažnai (80–99%) | 1 ligoje |
| SLC18A2solute carrier family 18 member A2 | Labai dažnai (80–99%) | 1 ligoje |
| SLC25A24solute carrier family 25 member 24 | Labai dažnai (80–99%) | 1 ligoje |
| SLURP1secreted LY6/PLAUR domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| TNXBtenascin XB | Labai dažnai (80–99%) | 1 ligoje |
| CHRNGcholinergic receptor nicotinic gamma subunit | Dažnai (30–79%) | 1 ligoje |
| CHST14carbohydrate sulfotransferase 14 | Dažnai (30–79%) | 1 ligoje |
| COL1A1collagen type I alpha 1 chain | Dažnai (30–79%) | 2 ligose |
| COL1A2collagen type I alpha 2 chain | Dažnai (30–79%) | 1 ligoje |
| CPLX1complexin 1 | Dažnai (30–79%) | 1 ligoje |
| CTBP1C-terminal binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| DACT1dishevelled binding antagonist of beta catenin 1 | Dažnai (30–79%) | 1 ligoje |
| DSEdermatan sulfate epimerase | Dažnai (30–79%) | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Dažnai (30–79%) | 1 ligoje |
| FXNfrataxin | Dažnai (30–79%) | 1 ligoje |
| HARS1histidyl-tRNA synthetase 1 | Dažnai (30–79%) | 1 ligoje |
| HINT1histidine triad nucleotide binding protein 1 | Dažnai (30–79%) | 2 ligose |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Dažnai (30–79%) | 1 ligoje |
| MYH14myosin heavy chain 14 | Dažnai (30–79%) | 1 ligoje |
| MYH3myosin heavy chain 3 | Dažnai (30–79%) | 1 ligoje |
| NDRG1N-myc downstream regulated 1 | Dažnai (30–79%) | 1 ligoje |
| NELFAnegative elongation factor complex member A | Dažnai (30–79%) | 1 ligoje |
| NSD2nuclear receptor binding SET domain protein 2 | Dažnai (30–79%) | 1 ligoje |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Dažnai (30–79%) | 1 ligoje |
| PRDM5PR/SET domain 5 | Dažnai (30–79%) | 1 ligoje |
| PTRH2peptidyl-tRNA hydrolase 2 | Dažnai (30–79%) | 1 ligoje |
| RAI1retinoic acid induced 1 | Dažnai (30–79%) | 1 ligoje |
| SALL1spalt like transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| SPARTspartin | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 62 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ZNF469zinc finger protein 469 | Dažnai (30–79%) | 1 ligoje |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Kartais (5–29%) | 1 ligoje |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Kartais (5–29%) | 1 ligoje |
| ASAH1N-acylsphingosine amidohydrolase 1 | Kartais (5–29%) | 1 ligoje |
| ATP13A2ATPase cation transporting 13A2 | Kartais (5–29%) | 1 ligoje |
| AUTS2activator of transcription and developmental regulator AUTS2 | Kartais (5–29%) | 1 ligoje |
| BRCA1BRCA1 DNA repair associated | Kartais (5–29%) | 1 ligoje |
| BRCA2BRCA2 DNA repair associated | Kartais (5–29%) | 1 ligoje |
| BRIP1BRCA1 interacting DNA helicase 1 | Kartais (5–29%) | 1 ligoje |
| CCBE1collagen and calcium binding EGF domains 1 | Kartais (5–29%) | 1 ligoje |
| COL2A1collagen type II alpha 1 chain | Kartais (5–29%) | 2 ligose |
| COL5A1collagen type V alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| COL5A2collagen type V alpha 2 chain | Kartais (5–29%) | 1 ligoje |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Kartais (5–29%) | 1 ligoje |
| ERLIN2ER lipid raft associated 2 | Kartais (5–29%) | 1 ligoje |
| FAAP100FA core complex associated protein 100 | Kartais (5–29%) | 1 ligoje |
| FANCAFA complementation group A | Kartais (5–29%) | 1 ligoje |
| FANCBFA complementation group B | Kartais (5–29%) | 1 ligoje |
| FANCCFA complementation group C | Kartais (5–29%) | 1 ligoje |
| FANCD2FA complementation group D2 | Kartais (5–29%) | 1 ligoje |
| FANCEFA complementation group E | Kartais (5–29%) | 1 ligoje |
| FANCFFA complementation group F | Kartais (5–29%) | 1 ligoje |
| FANCGFA complementation group G | Kartais (5–29%) | 1 ligoje |
| FANCIFA complementation group I | Kartais (5–29%) | 1 ligoje |
| FANCLFA complementation group L | Kartais (5–29%) | 1 ligoje |
| FANCMFA complementation group M | Kartais (5–29%) | 1 ligoje |
| FAT4FAT atypical cadherin 4 | Kartais (5–29%) | 1 ligoje |
| MAD2L2mitotic arrest deficient 2 like 2 | Kartais (5–29%) | 1 ligoje |
| MED13Lmediator complex subunit 13L | Kartais (5–29%) | 1 ligoje |
| NEK9NIMA related kinase 9 | Kartais (5–29%) | 1 ligoje |
| PALB2partner and localizer of BRCA2 | Kartais (5–29%) | 1 ligoje |
| PORcytochrome p450 oxidoreductase | Kartais (5–29%) | 1 ligoje |
| RAD51RAD51 recombinase | Kartais (5–29%) | 1 ligoje |
| RAD51CRAD51 paralog C | Kartais (5–29%) | 1 ligoje |
| RFWD3ring finger and WD repeat domain 3 | Kartais (5–29%) | 1 ligoje |
| SACSsacsin molecular chaperone | Kartais (5–29%) | 1 ligoje |
| SLX4SLX4 structure-specific endonuclease subunit | Kartais (5–29%) | 1 ligoje |
| UBE2Tubiquitin conjugating enzyme E2 T | Kartais (5–29%) | 1 ligoje |
| XRCC2X-ray repair cross complementing 2 | Kartais (5–29%) | 1 ligoje |
| ALPLalkaline phosphatase, biomineralization associated | Neužfiksuota | 1 ligoje |
| BLTP1bridge-like lipid transfer protein family member 1 | Neužfiksuota | 1 ligoje |
| CCN6cellular communication network factor 6 | Neužfiksuota | 1 ligoje |
| CCT5chaperonin containing TCP1 subunit 5 | Neužfiksuota | 1 ligoje |
| CHD3chromodomain helicase DNA binding protein 3 | Neužfiksuota | 1 ligoje |
| CNTNAP1contactin associated protein 1 | Neužfiksuota | 1 ligoje |
| CPT2carnitine palmitoyltransferase 2 | Neužfiksuota | 1 ligoje |
| DCHS1dachsous cadherin-related 1 | Neužfiksuota | 1 ligoje |
| DHODHdihydroorotate dehydrogenase (quinone) | Neužfiksuota | 1 ligoje |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Neužfiksuota | 1 ligoje |
| EXOSC3exosome component 3 | Neužfiksuota | 1 ligoje |
| GJB6gap junction protein beta 6 | Neužfiksuota | 1 ligoje |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Neužfiksuota | 1 ligoje |
| MYO9Amyosin IXA | Neužfiksuota | 1 ligoje |
| SLC17A5solute carrier family 17 member 5 | Neužfiksuota | 1 ligoje |
| SLC9A6solute carrier family 9 member A6 | Neužfiksuota | 1 ligoje |
| SYT1synaptotagmin 1 | Neužfiksuota | 1 ligoje |
| TMEM216transmembrane protein 216 | Neužfiksuota | 1 ligoje |
| TREM2triggering receptor expressed on myeloid cells 2 | Neužfiksuota | 1 ligoje |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Neužfiksuota | 1 ligoje |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Neužfiksuota | 1 ligoje |
| VRK1VRK serine/threonine kinase 1 | Neužfiksuota | 1 ligoje |
| YARS1tyrosyl-tRNA synthetase 1 | 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.
Siauresni požymiai
- Dropped arches397 genų
- High-arched foot315 genų
- Broad foot40 genų
- Long foot27 genų
- Contractures of the foot joints18 genų
- Split foot14 genų
- Abnormalities of the toes11 genų
- Abnormality of the Achilles tendon9 genų
- Abnormality of the long bone of foot9 genų
- Positional foot deformity7 genų
- Narrow foot6 genų
- Structural foot deformity4 genų
- Abnormal ankle bones3 genų
- Foot bone infection3 genų
- Abnormal foot bone ossification2 genų
- Abnormality of the plantar skin of foot2 genų
- Autoamputation of foot2 genų
- Ankylosis of feet small joints1 genas
- Medial deviation of the foot1 genas
- Medial rotation of the medial malleolus1 genas
- Osteolysis involving bones of the feet1 genas
- Podagra1 genas
- Prominent subcalcaneal fat pad1 genas
- Absent/small foot bones
- Duplication involving bones of the feet
- Fusion involving the bones of the feet
- Hindfoot deformity
Platesni požymiai
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 2026.10.16-c6eea6bf.
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