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Træk

Diffuse skeletal muscle wasting

Klinisk navn: Generalized amyotrophy

Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.

HPO HP:0003700

Resumé

Også kaldet
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
Kropssystem
Abnormality of the musculoskeletal system

78 gener knyttet til Diffuse skeletal muscle wasting

Ændringer i disse gener forårsager sjældne tilstande, hvor Diffuse skeletal muscle wasting ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.

GenHvor ofte det sesTilstande
ACADSBacyl-CoA dehydrogenase short/branched chainAltidI 1 tilstand
BORCS8BLOC-1 related complex subunit 8AltidI 1 tilstand
C2orf69chromosome 2 open reading frame 69AltidI 1 tilstand
CNBPCCHC-type zinc finger nucleic acid binding proteinAltidI 1 tilstand
DALRD3DALR anticodon binding domain containing 3AltidI 1 tilstand
FUCA1alpha-L-fucosidase 1AltidI 1 tilstand
INPP4Ainositol polyphosphate-4-phosphatase type I AAltidI 1 tilstand
JPH1junctophilin 1AltidI 1 tilstand
LMNAlamin A/CAltidI 3 tilstande
MPV17mitochondrial inner membrane protein MPV17AltidI 1 tilstand
NDE1nudE neurodevelopment protein 1AltidI 1 tilstand
PIGAphosphatidylinositol glycan anchor biosynthesis class AAltidI 2 tilstande
POLR3ARNA polymerase III subunit AAltidI 1 tilstand
SCN4Asodium voltage-gated channel alpha subunit 4AltidI 2 tilstande
SPTLC1serine palmitoyltransferase long chain base subunit 1AltidI 1 tilstand
VAMP1vesicle associated membrane protein 1AltidI 2 tilstande
VCPvalosin containing proteinAltidI 3 tilstande
WARS2tryptophanyl tRNA synthetase 2, mitochondrialAltidI 2 tilstande
MGME1mitochondrial genome maintenance exonuclease 1Meget ofte (80–99 %)I 2 tilstande
NAGAalpha-N-acetylgalactosaminidaseMeget ofte (80–99 %)I 2 tilstande
SPTBN4spectrin beta, non-erythrocytic 4Meget ofte (80–99 %)I 1 tilstand
ADSS1adenylosuccinate synthase 1Ofte (30–79 %)I 1 tilstand
BIN1bridging integrator 1Ofte (30–79 %)I 2 tilstande
CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10Ofte (30–79 %)I 1 tilstand
COL12A1collagen type XII alpha 1 chainOfte (30–79 %)I 2 tilstande
COL6A1collagen type VI alpha 1 chainOfte (30–79 %)I 3 tilstande
COL6A2collagen type VI alpha 2 chainOfte (30–79 %)I 2 tilstande
COL6A3collagen type VI alpha 3 chainOfte (30–79 %)I 2 tilstande
DOK7docking protein 7Ofte (30–79 %)I 1 tilstand
EXOSC9exosome component 9Ofte (30–79 %)I 1 tilstand
FUSFUS RNA binding proteinOfte (30–79 %)I 1 tilstand
GLDNgliomedinOfte (30–79 %)I 1 tilstand
KIF21Akinesin family member 21AOfte (30–79 %)I 1 tilstand
LMNB2lamin B2Ofte (30–79 %)I 1 tilstand
MAGEL2MAGE family member L2Ofte (30–79 %)I 1 tilstand
MUSKmuscle associated receptor tyrosine kinaseOfte (30–79 %)I 2 tilstande
MYH7myosin heavy chain 7Ofte (30–79 %)I 1 tilstand
MYOD1myogenic differentiation 1Ofte (30–79 %)I 1 tilstand
NUP88nucleoporin 88Ofte (30–79 %)I 1 tilstand
OGDHoxoglutarate dehydrogenaseOfte (30–79 %)I 1 tilstand
Vis 38 gener mere
GenHvor ofte det sesTilstande
PGAP1post-GPI attachment to proteins inositol deacylase 1Ofte (30–79 %)I 1 tilstand
RAPSNreceptor associated protein of the synapseOfte (30–79 %)I 1 tilstand
RYR1ryanodine receptor 1Ofte (30–79 %)I 1 tilstand
SELENONselenoprotein NOfte (30–79 %)I 2 tilstande
SLC18A3solute carrier family 18 member A3Ofte (30–79 %)I 1 tilstand
SPEGstriated muscle enriched protein kinaseOfte (30–79 %)I 1 tilstand
SQSTM1sequestosome 1Ofte (30–79 %)I 1 tilstand
TARDBPTAR DNA binding proteinOfte (30–79 %)I 1 tilstand
TBK1TANK binding kinase 1Ofte (30–79 %)I 1 tilstand
TTNtitinOfte (30–79 %)I 2 tilstande
TUBA1Atubulin alpha 1aOfte (30–79 %)I 1 tilstand
DNA2DNA replication helicase/nuclease 2Nogle gange (5–29 %)I 1 tilstand
GPR35G protein-coupled receptor 35Nogle gange (5–29 %)I 1 tilstand
HNRNPA1heterogeneous nuclear ribonucleoprotein A1Nogle gange (5–29 %)I 1 tilstand
HNRNPA2B1heterogeneous nuclear ribonucleoprotein A2/B1Nogle gange (5–29 %)I 1 tilstand
MST1macrophage stimulating 1Nogle gange (5–29 %)I 1 tilstand
MYPNmyopalladinNogle gange (5–29 %)I 1 tilstand
NOTCH2NLCnotch 2 N-terminal like CNogle gange (5–29 %)I 1 tilstand
POLGDNA polymerase gamma, catalytic subunitNogle gange (5–29 %)I 2 tilstande
POMT1protein O-mannosyltransferase 1Nogle gange (5–29 %)I 1 tilstand
RBM28RNA binding motif protein 28Nogle gange (5–29 %)I 1 tilstand
RNF170ring finger protein 170Nogle gange (5–29 %)I 1 tilstand
SEMA4Dsemaphorin 4DNogle gange (5–29 %)I 1 tilstand
TCF4transcription factor 4Nogle gange (5–29 %)I 1 tilstand
TPM2tropomyosin 2Nogle gange (5–29 %)I 1 tilstand
TPM3tropomyosin 3Nogle gange (5–29 %)I 1 tilstand
TWNKtwinkle mtDNA helicaseNogle gange (5–29 %)I 1 tilstand
UNC45Bunc-45 myosin chaperone BNogle gange (5–29 %)I 1 tilstand
DNAJC19DnaJ heat shock protein family (Hsp40) member C19Sjældent (1–4%)I 1 tilstand
ALDH18A1aldehyde dehydrogenase 18 family member A1Ikke registreretI 1 tilstand
BAG3BAG cochaperone 3Ikke registreretI 1 tilstand
LAMP2lysosome associated membrane protein 2Ikke registreretI 1 tilstand
PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1Ikke registreretI 1 tilstand
SLC16A2solute carrier family 16 member 2Ikke registreretI 1 tilstand
SLC52A2solute carrier family 52 member 2Ikke registreretI 1 tilstand
TK2thymidine kinase 2Ikke registreretI 1 tilstand
TRIP4thyroid hormone receptor interactor 4Ikke registreretI 1 tilstand
YARS2tyrosyl-tRNA synthetase 2Ikke registreretI 1 tilstand

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Snævrere træk

Bredere træk

Muscle degeneration

Hvor oplysningerne kommer fra

  • Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
  • Dataudgivelse 2026.10.17-8666dff2.

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