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Trait

Wasting of muscles near the body

Clinical name: Proximal amyotrophy

Amyotrophy (muscular atrophy) affecting the proximal musculature.

HPO HP:0007126

Summary

Also called
Muscle atrophy, proximal, Proximal muscle atrophy, Proximal muscle wasting, Symmetric proximal muscular atrophy, Symmetrical, proximal limb muscle atrophy
Body system
Abnormality of the musculoskeletal system

42 genes linked to Wasting of muscles near the body

Changes in these genes cause rare conditions in which Wasting of muscles near the body 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.

GeneHow often it is seenConditions
DNM2dynamin 2AlwaysIn 1 condition
FKRPfukutin related proteinAlwaysIn 2 conditions
MTMR14myotubularin related protein 14AlwaysIn 1 condition
SGCDsarcoglycan deltaAlwaysIn 1 condition
SLC12A6solute carrier family 12 member 6AlwaysIn 1 condition
TMEM43transmembrane protein 43AlwaysIn 1 condition
TNNT1troponin T1, slow skeletal typeAlwaysIn 2 conditions
TRIM32tripartite motif containing 32AlwaysIn 1 condition
MT-TEmitochondrially encoded tRNA-Glu (GAA/G)Very often (80–99%)In 1 condition
ARMC5armadillo repeat containing 5Often (30–79%)In 1 condition
ATRXATRX chromatin remodelerOften (30–79%)In 1 condition
BRAFB-Raf proto-oncogene, serine/threonine kinaseOften (30–79%)In 1 condition
CDH23cadherin related 23Often (30–79%)In 1 condition
CRPPACDP-L-ribitol pyrophosphorylase AOften (30–79%)In 1 condition
DYSFdysferlinOften (30–79%)In 1 condition
FKTNfukutinOften (30–79%)In 1 condition
GNASGNAS complex locusOften (30–79%)In 1 condition
KDM1Alysine demethylase 1AOften (30–79%)In 1 condition
MYH7myosin heavy chain 7Often (30–79%)In 1 condition
NR3C1nuclear receptor subfamily 3 group C member 1Often (30–79%)In 1 condition
PEX6peroxisomal biogenesis factor 6Often (30–79%)In 1 condition
POMT1protein O-mannosyltransferase 1Often (30–79%)In 1 condition
POMT2protein O-mannosyltransferase 2Often (30–79%)In 1 condition
TP53tumor protein p53Often (30–79%)In 1 condition
USP48ubiquitin specific peptidase 48Often (30–79%)In 1 condition
USP8ubiquitin specific peptidase 8Often (30–79%)In 1 condition
VAPBVAMP associated protein B and COften (30–79%)In 3 conditions
LMNAlamin A/CSometimes (5–29%)In 2 conditions
SYT2synaptotagmin 2Sometimes (5–29%)In 1 condition
TNXBtenascin XBSometimes (5–29%)In 1 condition
CAPN3calpain 3Not recordedIn 2 conditions
DOK7docking protein 7Not recordedIn 1 condition
FUSFUS RNA binding proteinNot recordedIn 1 condition
GFPT1glutamine--fructose-6-phosphate transaminase 1Not recordedIn 1 condition
INPP5Kinositol polyphosphate-5-phosphatase KNot recordedIn 1 condition
MGME1mitochondrial genome maintenance exonuclease 1Not recordedIn 1 condition
SGCBsarcoglycan betaNot recordedIn 1 condition
SMN1survival of motor neuron 1, telomericNot recordedIn 2 conditions
STIM1stromal interaction molecule 1Not recordedIn 1 condition
SYNE1spectrin repeat containing nuclear envelope protein 1Not recordedIn 1 condition
Show 2 more genes
GeneHow often it is seenConditions
SYNE2spectrin repeat containing nuclear envelope protein 2Not recordedIn 1 condition
TFGtrafficking from ER to golgi regulatorNot recordedIn 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.

Narrower traits

Broader traits

Muscle degeneration

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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