Myopathy, X-linked, with excessive autophagy

Preferred Label : Myopathy, X-linked, with excessive autophagy;

Symbol : MEAX;

CISMeF acronym : MEAX; XMEA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : XMEA;

Description : Sugie et al. (2005) classified X-linked myopathy with excessive autophagy (XMEA) as a form of autophagic vacuolar myopathy, characterized by intracytoplasmic autophagic vacuoles with sarcolemmal features. Danon disease (300257), caused by mutation in the LAMP2 gene (309060) on chromosome Xq24, is a distinct disorder with similar pathologic features.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the homolog of the S. cerevisiae VMA21 gene (VMA21, 300913.0001);

Laboratory abnormalities : Increased serum creatine kinase; Increased urinary beta-2-microglobulin (1 family);

Prefixed ID : #310440;

Details

Origin ID

310440;

UMLS CUI

C1839615;

Automatic exact mappings (from CISMeF team)
- X-linked myopathy with excess autophagy [ICD-11 More detail]
- symbol withdrawn MEAX [HGNC gene]
- vacuolar ATPase assembly factor VMA21 [ORDO Gene]
Currated CISMeF NLP mapping
- Vacuolar myopathy [MeSH concept]
- X-linked myopathy with excessive autophagy [DO Concept]
- X-linked myopathy with excessive autophagy [ORDO Disease]
- X-linked myopathy with excessive autophagy (disorder) [SNOMED CT concept]
- myopathy, X-Linked, with excessive autophagy [MeSH concept]
- myopathy, X-Linked, with excessive autophagy [MeSH Supplementary Concept]
- vacuolar myopathy [MeSH Supplementary Concept]
DO Cross reference
- X-linked myopathy with excessive autophagy [DO Concept]
Genes related to phenotype
- Vacuolar atpase assembly factor vma21 [OMIM gene]
HPO term(s)
- Difficulty climbing stairs [HPO term]
- Difficulty running [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Flexion contracture [HPO term]
- Gowers sign [HPO term]
- Incomplete penetrance [HPO term]
- Limited extraocular movements [HPO term]
- Motor delay [HPO term]
- Myopathy [HPO term]
- Myotonia [HPO term]
- Neonatal hypotonia [HPO term]
- Proximal muscle weakness in lower limbs [HPO term]
- Respiratory insufficiency [HPO term]
- Scoliosis [HPO term]
- Skeletal muscle atrophy [HPO term]
- Slowly progressive [HPO term]
- X-linked recessive inheritance [HPO term]
Not associated HPO term(s)
- Abnormality of the cardiovascular system [HPO term]
- Intellectual disability [HPO term]
- Muscle fiber necrosis [HPO term]
ORDO concept(s)
- X-linked myopathy with excessive autophagy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked myopathy with excessive autophagy [DO Concept]
- X-linked myopathy with excessive autophagy (disorder) [SNOMED CT concept]
- myopathy, X-Linked, with excessive autophagy [MeSH Supplementary Concept]
- myopathy, X-Linked, with excessive autophagy [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients