Tunnus
Waddling gait
Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.
Kokkuvõte
- Teised nimetused
- Waddling walk
- Kehasüsteem
- Abnormality of the nervous system
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Waddling gait, and the rest of your genome, with one test.
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Telli oma Genome Test129 geeni on seotud tunnusega Waddling gait
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Waddling gait. 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 |
|---|---|---|
| ACBD5acyl-CoA binding domain containing 5 | Alati | Esineb 1 haiguses |
| BGNbiglycan | Alati | Esineb 1 haiguses |
| BICD2BICD cargo adaptor 2 | Alati | Esineb 2 haiguses |
| CCN2cellular communication network factor 2 | Alati | Esineb 1 haiguses |
| COL10A1collagen type X alpha 1 chain | Alati | Esineb 2 haiguses |
| COL2A1collagen type II alpha 1 chain | Alati | Esineb 5 haiguses |
| DMDdystrophin | Alati | Esineb 2 haiguses |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Alati | Esineb 1 haiguses |
| DYMdymeclin | Alati | Esineb 2 haiguses |
| DYNC1H1dynein cytoplasmic 1 heavy chain 1 | Alati | Esineb 2 haiguses |
| FDX2ferredoxin 2 | Alati | Esineb 1 haiguses |
| FEM1Bfem-1 homolog B | Alati | Esineb 1 haiguses |
| FKBP14FKBP prolyl isomerase 14 | Alati | Esineb 1 haiguses |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Alati | Esineb 1 haiguses |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Alati | Esineb 1 haiguses |
| HSPB8heat shock protein family B (small) member 8 | Alati | Esineb 1 haiguses |
| LMNAlamin A/C | Alati | Esineb 3 haiguses |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Alati | Esineb 1 haiguses |
| MYH2myosin heavy chain 2 | Alati | Esineb 1 haiguses |
| PHEXphosphate regulating endopeptidase X-linked | Alati | Esineb 1 haiguses |
| PREPLprolyl endopeptidase like | Alati | Esineb 1 haiguses |
| TRIM63tripartite motif containing 63 | Alati | Esineb 1 haiguses |
| TUBA4Atubulin alpha 4a | Alati | Esineb 1 haiguses |
| UFSP2UFM1 specific peptidase 2 | Alati | Esineb 1 haiguses |
| ACTA1actin alpha 1, skeletal muscle | Väga sageli (80–99%) | Esineb 5 haiguses |
| CCN6cellular communication network factor 6 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CHST3carbohydrate sulfotransferase 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LTBP4latent transforming growth factor beta binding protein 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MATN3matrilin 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TRIM32tripartite motif containing 32 | Väga sageli (80–99%) | Esineb 2 haiguses |
| VCPvalosin containing protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| ANO5anoctamin 5 | Sageli (30–79%) | Esineb 1 haiguses |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Sageli (30–79%) | Esineb 2 haiguses |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Sageli (30–79%) | Esineb 1 haiguses |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Sageli (30–79%) | Esineb 1 haiguses |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ARHGAP19Rho GTPase activating protein 19 | Sageli (30–79%) | Esineb 1 haiguses |
| BIN1bridging integrator 1 | Sageli (30–79%) | Esineb 2 haiguses |
Näita veel 89 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| CFL2cofilin 2 | Sageli (30–79%) | Esineb 2 haiguses |
| COL13A1collagen type XIII alpha 1 chain | Sageli (30–79%) | Esineb 1 haiguses |
| COLQcollagen like tail subunit of asymmetric acetylcholinesterase | Sageli (30–79%) | Esineb 1 haiguses |
| COMPcartilage oligomeric matrix protein | Sageli (30–79%) | Esineb 4 haiguses |
| DAG1dystroglycan 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DNAJB6DnaJ heat shock protein family (Hsp40) member B6 | Sageli (30–79%) | Esineb 1 haiguses |
| DSTYKdual serine/threonine and tyrosine protein kinase | Sageli (30–79%) | Esineb 1 haiguses |
| EMDemerin | Sageli (30–79%) | Esineb 2 haiguses |
| FHL1four and a half LIM domains 1 | Sageli (30–79%) | Esineb 3 haiguses |
| FKRPfukutin related protein | Sageli (30–79%) | Esineb 2 haiguses |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Sageli (30–79%) | Esineb 1 haiguses |
| LAMB2laminin subunit beta 2 | Sageli (30–79%) | Esineb 1 haiguses |
| LRP5LDL receptor related protein 5 | Sageli (30–79%) | Esineb 1 haiguses |
| MUSKmuscle associated receptor tyrosine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| MYPNmyopalladin | Sageli (30–79%) | Esineb 2 haiguses |
| POMT1protein O-mannosyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PTH1Rparathyroid hormone 1 receptor | Sageli (30–79%) | Esineb 2 haiguses |
| RYR1ryanodine receptor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Sageli (30–79%) | Esineb 2 haiguses |
| SGCAsarcoglycan alpha | Sageli (30–79%) | Esineb 1 haiguses |
| SGCBsarcoglycan beta | Sageli (30–79%) | Esineb 1 haiguses |
| SGCGsarcoglycan gamma | Sageli (30–79%) | Esineb 1 haiguses |
| SLC26A2solute carrier family 26 member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC6A17solute carrier family 6 member 17 | Sageli (30–79%) | Esineb 2 haiguses |
| SMN1survival of motor neuron 1, telomeric | Sageli (30–79%) | Esineb 1 haiguses |
| SPEGstriated muscle enriched protein kinase | Sageli (30–79%) | Esineb 1 haiguses |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SYT2synaptotagmin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TGFB1transforming growth factor beta 1 | Sageli (30–79%) | Esineb 2 haiguses |
| TMEM43transmembrane protein 43 | Sageli (30–79%) | Esineb 1 haiguses |
| TNNC2troponin C2, fast skeletal type | Sageli (30–79%) | Esineb 1 haiguses |
| TNNT1troponin T1, slow skeletal type | Sageli (30–79%) | Esineb 1 haiguses |
| TRAPPC10trafficking protein particle complex subunit 10 | Sageli (30–79%) | Esineb 1 haiguses |
| TRAPPC11trafficking protein particle complex subunit 11 | Sageli (30–79%) | Esineb 2 haiguses |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Sageli (30–79%) | Esineb 2 haiguses |
| TTNtitin | Sageli (30–79%) | Esineb 1 haiguses |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Mõnikord (5–29%) | Esineb 2 haiguses |
| ASAH1N-acylsphingosine amidohydrolase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL12A1collagen type XII alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL6A1collagen type VI alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL6A2collagen type VI alpha 2 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL6A3collagen type VI alpha 3 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL9A1collagen type IX alpha 1 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| COL9A2collagen type IX alpha 2 chain | Mõnikord (5–29%) | Esineb 2 haiguses |
| COL9A3collagen type IX alpha 3 chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| DEAF1DEAF1 transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GMPPBGDP-mannose pyrophosphorylase B | Mõnikord (5–29%) | Esineb 1 haiguses |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KBTBD13kelch repeat and BTB domain containing 13 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KLHL41kelch like family member 41 | Mõnikord (5–29%) | Esineb 2 haiguses |
| LAMA2laminin subunit alpha 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMOD3leiomodin 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYH7myosin heavy chain 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEBnebulin | Mõnikord (5–29%) | Esineb 3 haiguses |
| NOGnoggin | Mõnikord (5–29%) | Esineb 1 haiguses |
| POGZpogo transposable element derived with ZNF domain | Mõnikord (5–29%) | Esineb 1 haiguses |
| SELENONselenoprotein N | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC34A1solute carrier family 34 member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC34A3solute carrier family 34 member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPG7SPG7 matrix AAA peptidase subunit, paraplegin | Mõnikord (5–29%) | Esineb 1 haiguses |
| TPM2tropomyosin 2 | Mõnikord (5–29%) | Esineb 3 haiguses |
| TPM3tropomyosin 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TTI1TELO2 interacting protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| VAPBVAMP associated protein B and C | Mõnikord (5–29%) | Esineb 1 haiguses |
| YY1YY1 transcription factor | Mõnikord (5–29%) | Esineb 2 haiguses |
| MORC2MORC family CW-type zinc finger 2 | Harva (1–4%) | Esineb 1 haiguses |
| ACANaggrecan | Pole registreeritud | Esineb 1 haiguses |
| ALPLalkaline phosphatase, biomineralization associated | Pole registreeritud | Esineb 1 haiguses |
| CANT1calcium activated nucleotidase 1 | Pole registreeritud | Esineb 1 haiguses |
| CHKBcholine kinase beta | Pole registreeritud | Esineb 1 haiguses |
| DOK7docking protein 7 | Pole registreeritud | Esineb 1 haiguses |
| FGD4FYVE, RhoGEF and PH domain containing 4 | Pole registreeritud | Esineb 1 haiguses |
| FLNCfilamin C | Pole registreeritud | Esineb 1 haiguses |
| FN1fibronectin 1 | Pole registreeritud | Esineb 1 haiguses |
| IFIH1interferon induced with helicase C domain 1 | Pole registreeritud | Esineb 1 haiguses |
| MMP13matrix metallopeptidase 13 | Pole registreeritud | Esineb 2 haiguses |
| NEFHneurofilament heavy chain | Pole registreeritud | Esineb 1 haiguses |
| NEFLneurofilament light chain | Pole registreeritud | Esineb 1 haiguses |
| PLEKHG5pleckstrin homology and RhoGEF domain containing G5 | Pole registreeritud | Esineb 1 haiguses |
| POC1APOC1 centriolar protein A | Pole registreeritud | Esineb 1 haiguses |
| SLC39A13solute carrier family 39 member 13 | Pole registreeritud | Esineb 1 haiguses |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Pole registreeritud | Esineb 1 haiguses |
| TGFB2transforming growth factor beta 2 | 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