Tunnus
Hoffmann sign
A Hoffmann test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test.
Kokkuvõte
- Teised nimetused
- Hoffmann's sign
- Kehasüsteem
- Abnormality of the nervous system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Hoffmann sign, and the rest of your genome, with one test.
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Telli oma Genome Test43 geeni on seotud tunnusega Hoffmann sign
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Hoffmann sign. 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 |
|---|---|---|
| BCAT2branched chain amino acid transaminase 2 | Alati | Esineb 1 haiguses |
| CHP1calcineurin like EF-hand protein 1 | Alati | Esineb 1 haiguses |
| COQ4coenzyme Q4 | Alati | Esineb 1 haiguses |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ANGangiogenin | Sageli (30–79%) | Esineb 1 haiguses |
| ANXA11annexin A11 | Sageli (30–79%) | Esineb 1 haiguses |
| ATXN2ataxin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| CCNFcyclin F | Sageli (30–79%) | Esineb 1 haiguses |
| CFAP410cilia and flagella associated protein 410 | Sageli (30–79%) | Esineb 1 haiguses |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Sageli (30–79%) | Esineb 1 haiguses |
| CHMP2Bcharged multivesicular body protein 2B | Sageli (30–79%) | Esineb 1 haiguses |
| COQ7coenzyme Q7, hydroxylase | Sageli (30–79%) | Esineb 1 haiguses |
| DAOD-amino acid oxidase | Sageli (30–79%) | Esineb 1 haiguses |
| DCTN1dynactin subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| FIG4FIG4 phosphoinositide 5-phosphatase | Sageli (30–79%) | Esineb 1 haiguses |
| FUSFUS RNA binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| GALCgalactosylceramidase | Sageli (30–79%) | Esineb 1 haiguses |
| GLE1GLE1 RNA export mediator | Sageli (30–79%) | Esineb 1 haiguses |
| GLT8D1glycosyltransferase 8 domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Sageli (30–79%) | Esineb 1 haiguses |
| LRP12LDL receptor related protein 12 | Sageli (30–79%) | Esineb 1 haiguses |
| MATR3matrin 3 | Sageli (30–79%) | Esineb 1 haiguses |
| NEFHneurofilament heavy chain | Sageli (30–79%) | Esineb 1 haiguses |
| NEK1NIMA related kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| OPTNoptineurin | Sageli (30–79%) | Esineb 1 haiguses |
| PFN1profilin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PI4KAphosphatidylinositol 4-kinase alpha | Sageli (30–79%) | Esineb 1 haiguses |
| PRPHperipherin | Sageli (30–79%) | Esineb 1 haiguses |
| SOD1superoxide dismutase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Sageli (30–79%) | Esineb 1 haiguses |
| SQSTM1sequestosome 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TAF15TATA-box binding protein associated factor 15 | Sageli (30–79%) | Esineb 1 haiguses |
| TARDBPTAR DNA binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| TBK1TANK binding kinase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TREM2triggering receptor expressed on myeloid cells 2 | Sageli (30–79%) | Esineb 1 haiguses |
| UBQLN2ubiquilin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| UNC13Aunc-13 homolog A | Sageli (30–79%) | Esineb 1 haiguses |
| VAPBVAMP associated protein B and C | Sageli (30–79%) | Esineb 1 haiguses |
| VCPvalosin containing protein | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 3 geeni
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.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast