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Tunnus
Abnormal rhythmic movements of ankle
Kliiniline nimetus: Ankle clonus
Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward.
Abnormal rhythmic movements of ankleHP:0011448
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Read the genes linked to Abnormal rhythmic movements of ankle, 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 Abnormal rhythmic movements of ankle
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Abnormal rhythmic movements of ankle. 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 |
|---|---|---|
| AHDC1AT-hook DNA binding motif containing 1 | Alati | Esineb 1 haiguses |
| COQ4coenzyme Q4 | Alati | Esineb 1 haiguses |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Alati | Esineb 1 haiguses |
| GCSHglycine cleavage system protein H | Alati | Esineb 1 haiguses |
| MARS1methionyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Alati | Esineb 1 haiguses |
| NT5C25'-nucleotidase, cytosolic II | Alati | Esineb 1 haiguses |
| PEX1peroxisomal biogenesis factor 1 | Alati | Esineb 1 haiguses |
| PI4KAphosphatidylinositol 4-kinase alpha | Alati | Esineb 1 haiguses |
| RTN2reticulon 2 | Alati | Esineb 1 haiguses |
| SELENOIselenoprotein I | Alati | Esineb 2 haiguses |
| SMG9SMG9 nonsense mediated mRNA decay factor | Alati | Esineb 1 haiguses |
| SOD1superoxide dismutase 1 | Alati | Esineb 1 haiguses |
| SPTBN2spectrin beta, non-erythrocytic 2 | Alati | Esineb 1 haiguses |
| ERLIN2ER lipid raft associated 2 | Väga sageli (80–99%) | Esineb 4 haiguses |
| AARS1alanyl-tRNA synthetase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ANO10anoctamin 10 | Sageli (30–79%) | Esineb 1 haiguses |
| ATL1atlastin GTPase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CAPN1calpain 1 | Sageli (30–79%) | Esineb 2 haiguses |
| CCDC88Ccoiled-coil and HOOK domain protein 88C | Sageli (30–79%) | Esineb 1 haiguses |
| CYP7B1cytochrome P450 family 7 subfamily B member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| FA2Hfatty acid 2-hydroxylase | Sageli (30–79%) | Esineb 2 haiguses |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Sageli (30–79%) | Esineb 2 haiguses |
| KIF1Akinesin family member 1A | Sageli (30–79%) | Esineb 2 haiguses |
| KLC2kinesin light chain 2 | Sageli (30–79%) | Esineb 1 haiguses |
| KPNA3karyopherin subunit alpha 3 | Sageli (30–79%) | Esineb 1 haiguses |
| PLA2G6phospholipase A2 group VI | Sageli (30–79%) | Esineb 1 haiguses |
| POU3F4POU class 3 homeobox 4 | Sageli (30–79%) | Esineb 1 haiguses |
| REEP1receptor accessory protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC1A4solute carrier family 1 member 4 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC39A14solute carrier family 39 member 14 | Sageli (30–79%) | Esineb 2 haiguses |
| SPASTspastin | Sageli (30–79%) | Esineb 1 haiguses |
| SV2Asynaptic vesicle glycoprotein 2A | Sageli (30–79%) | Esineb 1 haiguses |
| TIMM8Atranslocase of inner mitochondrial membrane 8A | Sageli (30–79%) | Esineb 1 haiguses |
| TUBA4Atubulin alpha 4a | Sageli (30–79%) | Esineb 1 haiguses |
| VAC14VAC14 component of PIKFYVE complex | Sageli (30–79%) | Esineb 1 haiguses |
| ABCD1ATP binding cassette subfamily D member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADGRG1adhesion G protein-coupled receptor G1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CARS1cysteinyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
Näita veel 24 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| CD40LGCD40 ligand | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERLIN1ER lipid raft associated 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FGF13fibroblast growth factor 13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GALCgalactosylceramidase | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIF1Ckinesin family member 1C | Mõnikord (5–29%) | Esineb 1 haiguses |
| NFU1NFU1 iron-sulfur cluster scaffold | Mõnikord (5–29%) | Esineb 1 haiguses |
| PEX16peroxisomal biogenesis factor 16 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PSAPprosaposin | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAB18RAB18, member RAS oncogene family | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC16A2solute carrier family 16 member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC52A3solute carrier family 52 member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPARTspartin | Mõnikord (5–29%) | Esineb 2 haiguses |
| STUB1STIP1 homology and U-box containing protein 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TCEAL1transcription elongation factor A like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VCPvalosin containing protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Harva (1–4%) | Esineb 1 haiguses |
| KIF5Akinesin family member 5A | Harva (1–4%) | Esineb 2 haiguses |
| GBA2glucosylceramidase beta 2 | Pole registreeritud | Esineb 1 haiguses |
| HTThuntingtin | Pole registreeritud | Esineb 1 haiguses |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Pole registreeritud | Esineb 1 haiguses |
| SAMD9Lsterile alpha motif domain containing 9 like | Pole registreeritud | Esineb 1 haiguses |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Pole registreeritud | Esineb 1 haiguses |
| UCHL1ubiquitin C-terminal hydrolase L1 | 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