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Tunnus
Diffuse skeletal muscle wasting
Kliiniline nimetus: Generalized amyotrophy
Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.
Kokkuvõte
- Teised nimetused
- Generalized muscle degeneration, Muscle atrophy, generalized, Diffuse amyotrophy, Diffuse muscle atrophy, Diffuse muscle wasting, Generalised amyotrophy, Generalised muscle atrophy, Generalised muscle degeneration, Generalized muscle atrophy, Muscle atrophy, diffuse, Muscle atrophy, generalised, Muscular atrophy, generalised, Muscular atrophy, generalized
- Kehasüsteem
- Abnormality of the musculoskeletal system
Diffuse skeletal muscle wastingHP:0003700
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Read the genes linked to Diffuse skeletal muscle wasting, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test78 geeni on seotud tunnusega Diffuse skeletal muscle wasting
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Diffuse skeletal muscle wasting. 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 |
|---|---|---|
| ACADSBacyl-CoA dehydrogenase short/branched chain | Alati | Esineb 1 haiguses |
| BORCS8BLOC-1 related complex subunit 8 | Alati | Esineb 1 haiguses |
| C2orf69chromosome 2 open reading frame 69 | Alati | Esineb 1 haiguses |
| CNBPCCHC-type zinc finger nucleic acid binding protein | Alati | Esineb 1 haiguses |
| DALRD3DALR anticodon binding domain containing 3 | Alati | Esineb 1 haiguses |
| FUCA1alpha-L-fucosidase 1 | Alati | Esineb 1 haiguses |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alati | Esineb 1 haiguses |
| JPH1junctophilin 1 | Alati | Esineb 1 haiguses |
| LMNAlamin A/C | Alati | Esineb 3 haiguses |
| MPV17mitochondrial inner membrane protein MPV17 | Alati | Esineb 1 haiguses |
| NDE1nudE neurodevelopment protein 1 | Alati | Esineb 1 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alati | Esineb 2 haiguses |
| POLR3ARNA polymerase III subunit A | Alati | Esineb 1 haiguses |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Alati | Esineb 2 haiguses |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Alati | Esineb 1 haiguses |
| VAMP1vesicle associated membrane protein 1 | Alati | Esineb 2 haiguses |
| VCPvalosin containing protein | Alati | Esineb 3 haiguses |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Alati | Esineb 2 haiguses |
| MGME1mitochondrial genome maintenance exonuclease 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NAGAalpha-N-acetylgalactosaminidase | Väga sageli (80–99%) | Esineb 2 haiguses |
| SPTBN4spectrin beta, non-erythrocytic 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ADSS1adenylosuccinate synthase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| BIN1bridging integrator 1 | Sageli (30–79%) | Esineb 2 haiguses |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Sageli (30–79%) | Esineb 1 haiguses |
| COL12A1collagen type XII alpha 1 chain | Sageli (30–79%) | Esineb 2 haiguses |
| COL6A1collagen type VI alpha 1 chain | Sageli (30–79%) | Esineb 3 haiguses |
| COL6A2collagen type VI alpha 2 chain | Sageli (30–79%) | Esineb 2 haiguses |
| COL6A3collagen type VI alpha 3 chain | Sageli (30–79%) | Esineb 2 haiguses |
| DOK7docking protein 7 | Sageli (30–79%) | Esineb 1 haiguses |
| EXOSC9exosome component 9 | Sageli (30–79%) | Esineb 1 haiguses |
| FUSFUS RNA binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| GLDNgliomedin | Sageli (30–79%) | Esineb 1 haiguses |
| KIF21Akinesin family member 21A | Sageli (30–79%) | Esineb 1 haiguses |
| LMNB2lamin B2 | Sageli (30–79%) | Esineb 1 haiguses |
| MAGEL2MAGE family member L2 | Sageli (30–79%) | Esineb 1 haiguses |
| MUSKmuscle associated receptor tyrosine kinase | Sageli (30–79%) | Esineb 2 haiguses |
| MYH7myosin heavy chain 7 | Sageli (30–79%) | Esineb 1 haiguses |
| MYOD1myogenic differentiation 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NUP88nucleoporin 88 | Sageli (30–79%) | Esineb 1 haiguses |
| OGDHoxoglutarate dehydrogenase | Sageli (30–79%) | Esineb 1 haiguses |
Näita veel 38 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RAPSNreceptor associated protein of the synapse | Sageli (30–79%) | Esineb 1 haiguses |
| RYR1ryanodine receptor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SELENONselenoprotein N | Sageli (30–79%) | Esineb 2 haiguses |
| SLC18A3solute carrier family 18 member A3 | Sageli (30–79%) | Esineb 1 haiguses |
| SPEGstriated muscle enriched protein kinase | Sageli (30–79%) | Esineb 1 haiguses |
| SQSTM1sequestosome 1 | 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 |
| TTNtitin | Sageli (30–79%) | Esineb 2 haiguses |
| TUBA1Atubulin alpha 1a | Sageli (30–79%) | Esineb 1 haiguses |
| DNA2DNA replication helicase/nuclease 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GPR35G protein-coupled receptor 35 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MST1macrophage stimulating 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MYPNmyopalladin | Mõnikord (5–29%) | Esineb 1 haiguses |
| NOTCH2NLCnotch 2 N-terminal like C | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLGDNA polymerase gamma, catalytic subunit | Mõnikord (5–29%) | Esineb 2 haiguses |
| POMT1protein O-mannosyltransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RBM28RNA binding motif protein 28 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNF170ring finger protein 170 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SEMA4Dsemaphorin 4D | Mõnikord (5–29%) | Esineb 1 haiguses |
| TCF4transcription factor 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TPM2tropomyosin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TPM3tropomyosin 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TWNKtwinkle mtDNA helicase | Mõnikord (5–29%) | Esineb 1 haiguses |
| UNC45Bunc-45 myosin chaperone B | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Harva (1–4%) | Esineb 1 haiguses |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Pole registreeritud | Esineb 1 haiguses |
| BAG3BAG cochaperone 3 | Pole registreeritud | Esineb 1 haiguses |
| LAMP2lysosome associated membrane protein 2 | Pole registreeritud | Esineb 1 haiguses |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Pole registreeritud | Esineb 1 haiguses |
| SLC16A2solute carrier family 16 member 2 | Pole registreeritud | Esineb 1 haiguses |
| SLC52A2solute carrier family 52 member 2 | Pole registreeritud | Esineb 1 haiguses |
| TK2thymidine kinase 2 | Pole registreeritud | Esineb 1 haiguses |
| TRIP4thyroid hormone receptor interactor 4 | Pole registreeritud | Esineb 1 haiguses |
| YARS2tyrosyl-tRNA synthetase 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.
Kitsamad tunnused
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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