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Trait
Distal muscle wasting
Clinical name: Distal amyotrophy
Muscular atrophy affecting muscles in the distal portions of the extremities.
Summary
- Also called
- Amyotrophy of distal limb muscles, Distal amyotrophy, especially of the hands and feet, Distal limb muscle atrophy, Distal muscle atrophy, Distal muscle atrophy, upper and lower limbs, Distal muscle degeneration, Distal muscular atrophy, Muscle atrophy, distal
- Body system
- Abnormality of the musculoskeletal system
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This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/distal-amyotrophy.json"
page <- fromJSON(url)
page$trait$nameDistal muscle wastingHP:0003693
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Get my Genome Test163 genes linked to Distal muscle wasting
Changes in these genes cause rare conditions in which Distal muscle wasting is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ADCY6adenylate cyclase 6 | Always | In 1 condition |
| ADSS1adenylosuccinate synthase 1 | Always | In 1 condition |
| AFG3L2AFG3 like matrix AAA peptidase subunit 2 | Always | In 2 conditions |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Always | In 1 condition |
| APTXaprataxin | Always | In 1 condition |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Always | In 3 conditions |
| CCT5chaperonin containing TCP1 subunit 5 | Always | In 2 conditions |
| CHP1calcineurin like EF-hand protein 1 | Always | In 1 condition |
| COA7cytochrome c oxidase assembly factor 7 | Always | In 1 condition |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| DNM2dynamin 2 | Always | In 1 condition |
| GARS1glycyl-tRNA synthetase 1 | Always | In 4 conditions |
| GBF1golgi brefeldin A resistant guanine nucleotide exchange factor 1 | Always | In 1 condition |
| KIF1Bkinesin family member 1B | Always | In 1 condition |
| LRP12LDL receptor related protein 12 | Always | In 2 conditions |
| MARS1methionyl-tRNA synthetase 1 | Always | In 1 condition |
| MFN2mitofusin 2 | Always | In 2 conditions |
| MPZmyelin protein zero | Always | In 8 conditions |
| MTMR2myotubularin related protein 2 | Always | In 1 condition |
| MYH14myosin heavy chain 14 | Always | In 1 condition |
| NDC1NDC1 transmembrane nucleoporin | Always | In 1 condition |
| NEFLneurofilament light chain | Always | In 3 conditions |
| PHKA1phosphorylase kinase regulatory subunit alpha 1 | Always | In 1 condition |
| PIK3R5phosphoinositide-3-kinase regulatory subunit 5 | Always | In 1 condition |
| PLEKHG5pleckstrin homology and RhoGEF domain containing G5 | Always | In 2 conditions |
| PMP2peripheral myelin protein 2 | Always | In 1 condition |
| PMP22peripheral myelin protein 22 | Always | In 6 conditions |
| SCO2synthesis of cytochrome C oxidase 2 | Always | In 1 condition |
| SETXsenataxin | Always | In 2 conditions |
| SIGMAR1sigma receptor chaperone 1 | Always | In 2 conditions |
| SLC25A21solute carrier family 25 member 21 | Always | In 1 condition |
| SPARTspartin | Always | In 2 conditions |
| SPG11SPG11 vesicle trafficking associated, spatacsin | Always | In 3 conditions |
| TBCEtubulin folding cofactor E | Always | In 2 conditions |
| TBCKTBC1 domain containing kinase | Always | In 1 condition |
| TDP1tyrosyl-DNA phosphodiesterase 1 | Always | In 2 conditions |
| YARS1tyrosyl-tRNA synthetase 1 | Always | In 1 condition |
| ALS2alsin Rho guanine nucleotide exchange factor ALS2 | Very often (80–99%) | In 2 conditions |
| ATP13A2ATPase cation transporting 13A2 | Very often (80–99%) | In 1 condition |
| ERLIN1ER lipid raft associated 1 | Very often (80–99%) | In 1 condition |
Show 123 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| FBLN5fibulin 5 | Very often (80–99%) | In 1 condition |
| FLRT1fibronectin leucine rich transmembrane protein 1 | Very often (80–99%) | In 1 condition |
| FUSFUS RNA binding protein | Very often (80–99%) | In 2 conditions |
| GDAP1ganglioside induced differentiation associated protein 1 | Very often (80–99%) | In 5 conditions |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Very often (80–99%) | In 2 conditions |
| KIF1Akinesin family member 1A | Very often (80–99%) | In 2 conditions |
| KLC2kinesin light chain 2 | Very often (80–99%) | In 2 conditions |
| PTRH2peptidyl-tRNA hydrolase 2 | Very often (80–99%) | In 1 condition |
| SH3TC2SH3 domain and tetratricopeptide repeats 2 | Very often (80–99%) | In 2 conditions |
| SORDsorbitol dehydrogenase | Very often (80–99%) | In 1 condition |
| SPTBN4spectrin beta, non-erythrocytic 4 | Very often (80–99%) | In 1 condition |
| SPTLC1serine palmitoyltransferase long chain base subunit 1 | Very often (80–99%) | In 2 conditions |
| SPTLC2serine palmitoyltransferase long chain base subunit 2 | Very often (80–99%) | In 2 conditions |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Very often (80–99%) | In 1 condition |
| TARDBPTAR DNA binding protein | Very often (80–99%) | In 2 conditions |
| TRMT2BtRNA methyltransferase 2B | Very often (80–99%) | In 1 condition |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Very often (80–99%) | In 2 conditions |
| UBQLN2ubiquilin 2 | Very often (80–99%) | In 2 conditions |
| ZBTB20zinc finger and BTB domain containing 20 | Very often (80–99%) | In 1 condition |
| ZC4H2zinc finger C4H2-type containing | Very often (80–99%) | In 2 conditions |
| ANGangiogenin | Often (30–79%) | In 2 conditions |
| ANXA11annexin A11 | Often (30–79%) | In 1 condition |
| ATXN2ataxin 2 | Often (30–79%) | In 2 conditions |
| C19orf12chromosome 19 open reading frame 12 | Often (30–79%) | In 2 conditions |
| CADM3cell adhesion molecule 3 | Often (30–79%) | In 1 condition |
| CCNFcyclin F | Often (30–79%) | In 1 condition |
| CFAP410cilia and flagella associated protein 410 | Often (30–79%) | In 1 condition |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Often (30–79%) | In 1 condition |
| CHMP2Bcharged multivesicular body protein 2B | Often (30–79%) | In 1 condition |
| COASYCoenzyme A synthase | Often (30–79%) | In 1 condition |
| CYP27A1cytochrome P450 family 27 subfamily A member 1 | Often (30–79%) | In 1 condition |
| DAOD-amino acid oxidase | Often (30–79%) | In 1 condition |
| DCTN1dynactin subunit 1 | Often (30–79%) | In 2 conditions |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Often (30–79%) | In 1 condition |
| FIG4FIG4 phosphoinositide 5-phosphatase | Often (30–79%) | In 1 condition |
| GLE1GLE1 RNA export mediator | Often (30–79%) | In 1 condition |
| GLT8D1glycosyltransferase 8 domain containing 1 | Often (30–79%) | In 1 condition |
| HK1hexokinase 1 | Often (30–79%) | In 1 condition |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Often (30–79%) | In 2 conditions |
| IBA57iron-sulfur cluster assembly factor IBA57 | Often (30–79%) | In 1 condition |
| KIF1Ckinesin family member 1C | Often (30–79%) | In 2 conditions |
| LMNAlamin A/C | Often (30–79%) | In 3 conditions |
| MATR3matrin 3 | Often (30–79%) | In 1 condition |
| MMEmembrane metalloendopeptidase | Often (30–79%) | In 2 conditions |
| MORC2MORC family CW-type zinc finger 2 | Often (30–79%) | In 2 conditions |
| MTRFRmitochondrial translation release factor in rescue | Often (30–79%) | In 1 condition |
| MYOTmyotilin | Often (30–79%) | In 2 conditions |
| NDRG1N-myc downstream regulated 1 | Often (30–79%) | In 1 condition |
| NEFHneurofilament heavy chain | Often (30–79%) | In 1 condition |
| NEK1NIMA related kinase 1 | Often (30–79%) | In 1 condition |
| NEMFnuclear export mediator factor | Often (30–79%) | In 1 condition |
| NOTCH2NLCnotch 2 N-terminal like C | Often (30–79%) | In 1 condition |
| OPTNoptineurin | Often (30–79%) | In 1 condition |
| PEX10peroxisomal biogenesis factor 10 | Often (30–79%) | In 1 condition |
| PFN1profilin 1 | Often (30–79%) | In 1 condition |
| PNPLA6patatin like domain 6, lysophospholipase | Often (30–79%) | In 3 conditions |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Often (30–79%) | In 1 condition |
| PRPHperipherin | Often (30–79%) | In 1 condition |
| RAI1retinoic acid induced 1 | Often (30–79%) | In 1 condition |
| REEP1receptor accessory protein 1 | Often (30–79%) | In 2 conditions |
| SBF2SET binding factor 2 | Often (30–79%) | In 1 condition |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Often (30–79%) | In 1 condition |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Often (30–79%) | In 1 condition |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Often (30–79%) | In 1 condition |
| SDHDsuccinate dehydrogenase complex subunit D | Often (30–79%) | In 1 condition |
| SMN1survival of motor neuron 1, telomeric | Often (30–79%) | In 1 condition |
| SMN2survival of motor neuron 2, centromeric | Often (30–79%) | In 1 condition |
| SOD1superoxide dismutase 1 | Often (30–79%) | In 1 condition |
| SQSTM1sequestosome 1 | Often (30–79%) | In 1 condition |
| SYT2synaptotagmin 2 | Often (30–79%) | In 1 condition |
| TAF15TATA-box binding protein associated factor 15 | Often (30–79%) | In 1 condition |
| TBK1TANK binding kinase 1 | Often (30–79%) | In 1 condition |
| TREM2triggering receptor expressed on myeloid cells 2 | Often (30–79%) | In 1 condition |
| TWNKtwinkle mtDNA helicase | Often (30–79%) | In 1 condition |
| UNC13Aunc-13 homolog A | Often (30–79%) | In 1 condition |
| VAPBVAMP associated protein B and C | Often (30–79%) | In 3 conditions |
| VCPvalosin containing protein | Often (30–79%) | In 3 conditions |
| VPS13Avacuolar protein sorting 13 homolog A | Often (30–79%) | In 1 condition |
| VRK1VRK serine/threonine kinase 1 | Often (30–79%) | In 1 condition |
| ANO5anoctamin 5 | Sometimes (5–29%) | In 1 condition |
| ATAD3AATPase family AAA domain containing 3A | Sometimes (5–29%) | In 1 condition |
| ATL1atlastin GTPase 1 | Sometimes (5–29%) | In 1 condition |
| ATL3atlastin GTPase 3 | Sometimes (5–29%) | In 1 condition |
| GBA2glucosylceramidase beta 2 | Sometimes (5–29%) | In 1 condition |
| SACSsacsin molecular chaperone | Sometimes (5–29%) | In 2 conditions |
| SLC25A46solute carrier family 25 member 46 | Sometimes (5–29%) | In 1 condition |
| SPASTspastin | Sometimes (5–29%) | In 1 condition |
| STUB1STIP1 homology and U-box containing protein 1 | Sometimes (5–29%) | In 1 condition |
| ZFYVE26zinc finger FYVE-type containing 26 | Sometimes (5–29%) | In 2 conditions |
| ABCA1ATP binding cassette subfamily A member 1 | Not recorded | In 1 condition |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Not recorded | In 1 condition |
| ACTN2actinin alpha 2 | Not recorded | In 1 condition |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Not recorded | In 1 condition |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Not recorded | In 1 condition |
| ATP7AATPase copper transporting alpha | Not recorded | In 1 condition |
| ATXN1ataxin 1 | Not recorded | In 1 condition |
| ATXN3ataxin 3 | Not recorded | In 1 condition |
| DCAF8DDB1 and CUL4 associated factor 8 | Not recorded | In 1 condition |
| DOK7docking protein 7 | Not recorded | In 1 condition |
| DYSFdysferlin | Not recorded | In 1 condition |
| EGR2early growth response 2 | Not recorded | In 3 conditions |
| GANgigaxonin | Not recorded | In 1 condition |
| HARS1histidyl-tRNA synthetase 1 | Not recorded | In 1 condition |
| HSPB8heat shock protein family B (small) member 8 | Not recorded | In 1 condition |
| IGHMBP2immunoglobulin mu DNA binding protein 2 | Not recorded | In 1 condition |
| JPH1junctophilin 1 | Not recorded | In 1 condition |
| LITAFlipopolysaccharide induced TNF factor | Not recorded | In 1 condition |
| LRSAM1leucine rich repeat and sterile alpha motif containing 1 | Not recorded | In 1 condition |
| MED25mediator complex subunit 25 | Not recorded | In 1 condition |
| MPV17mitochondrial inner membrane protein MPV17 | Not recorded | In 1 condition |
| MRE11MRE11 double strand break repair nuclease | Not recorded | In 1 condition |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Not recorded | In 1 condition |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Not recorded | In 1 condition |
| PNKPpolynucleotide kinase 3'-phosphatase | Not recorded | In 1 condition |
| POLGDNA polymerase gamma, catalytic subunit | Not recorded | In 1 condition |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Not recorded | In 1 condition |
| PRXperiaxin | Not recorded | In 2 conditions |
| RAB7ARAB7A, member RAS oncogene family | Not recorded | In 1 condition |
| SLC5A7solute carrier family 5 member 7 | Not recorded | In 1 condition |
| SOX10SRY-box transcription factor 10 | Not recorded | In 1 condition |
| TIA1TIA1 cytotoxic granule associated RNA binding protein | Not recorded | In 1 condition |
| TYMPthymidine phosphorylase | Not recorded | In 1 condition |
| VPS13Dvacuolar protein sorting 13 homolog D | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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