X-Linked Centronuclear Myopathy

Preferred Label : X-Linked Centronuclear Myopathy;

NCIt synonyms : XLCNM; MTM; X-Linked Myotubular Myopathy; Myotubular Myopathy 1; CNMX; MTM1;

NCIt definition : An X-linked recessive inherited disorder caused by mutations in the MTM1 gene. Primarily it affects males. Female carriers are usually asymptomatic. It is characterized by skeletal muscle weakness and hypotonia. The muscle weakness ranges from mild to severe. Newborns with severe X-linked centronuclear myopathy develop respiratory distress which may lead to respiratory failure requiring constant ventilator assistance. Patients with mild X-linked centronuclear myopathy usually require ventilator support during the newborn period only.;

Details

Origin ID

C118781;

UMLS CUI

C0410203;

Automatic exact mappings (from CISMeF team)
- Malaria due to Plasmodium falciparum [ICD-11 Category]
- Myotubularin [OMIM gene]
- medium-term memory [GO term]
- myopathies, structural, congenital [MeSH Descriptor]
Currated CISMeF NLP mapping
- Myopathy, centronuclear, X-linked [OMIM Phenotype]
- Myotubular Myopathy, X-Linked [MeSH concept]
- Severe X-linked myotubular myopathy (disorder) [SNOMED CT concept]
- X-linked centronuclear myopathy [ORDO Disease]
- centronuclear myopathy X-linked [DO Concept]
- severe x-linked myotubular myopathy [SNOMED Notion]
- x linked myotubular myopathy [Disease (Nov.)]
DO Cross reference
- centronuclear myopathy X-linked [DO Concept]
Excludes anatomical site(s)
- Bone [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
See also inter- (CISMeF)
- myotubularin 1 [ORDO Gene]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Myopathy, centronuclear, X-linked [OMIM Phenotype]
- Severe X-linked myotubular myopathy (disorder) [SNOMED CT concept]
- Severe infantile myotubular myopathy [ICD-11 More detail]
- X-linked centronuclear myopathy [ORDO Disease]
- centronuclear myopathy X-linked [DO Concept]
- severe x-linked myotubular myopathy [SNOMED Notion]
- x linked myotubular myopathy [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]
disease_mapped_to_gene
- MTM1 Gene [NCIt concept]

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