Myopathy, centronuclear, X-linked

Preferred Label : Myopathy, centronuclear, X-linked;

Symbol : CNMX;

CISMeF acronym : XLMTM; CNMX;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MTMX; Myotubular myopathy 1; XLMTM; MTM1; Myotubular myopathy, X-linked;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the myotubularin gene (MTM1, 300415.0001).;

Prefixed ID : #310400;

Details

Origin ID

310400;

UMLS CUI

C0410203;

Automatic exact mappings (from CISMeF team)
- myopathies, structural, congenital [MeSH Descriptor]
- myotubularin 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Myotubular Myopathy, X-Linked [MeSH concept]
- Severe X-linked myotubular myopathy (disorder) [SNOMED CT concept]
- Severe infantile myotubular myopathy [ICD-11 More detail]
- X-Linked Centronuclear Myopathy [NCIt 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]
Genes related to phenotype
- Myotubularin [OMIM gene]
HPO term(s)
- Arachnodactyly [HPO term]
- Areflexia [HPO term]
- Birth length greater than 97th percentile [HPO term]
- Cryptorchidism [HPO term]
- Decreased fetal movement [HPO term]
- Decreased liver function [HPO term]
- Decreased spontaneous movements [HPO term]
- Diaphragmatic eventration [HPO term]
- External ophthalmoplegia [HPO term]
- Facial palsy [HPO term]
- Flexion contracture [HPO term]
- Generalized muscle weakness [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hydrocephalus [HPO term]
- Hypokinesia [HPO term]
- Long face [HPO term]
- Long, hyperextensible fingers [HPO term]
- Macrocephaly [HPO term]
- Narrow face [HPO term]
- Neck muscle weakness [HPO term]
- Neonatal respiratory distress [HPO term]
- Polyhydramnios [HPO term]
- Pyloric stenosis [HPO term]
- Respiratory failure [HPO term]
- Respiratory failure requiring assisted ventilation [HPO term]
- Severe muscular hypotonia [HPO term]
- Slender toe [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked centronuclear myopathy [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Severe X-linked myotubular myopathy (disorder) [SNOMED CT concept]
- Severe infantile myotubular myopathy [ICD-11 More detail]
- X-Linked Centronuclear Myopathy [NCIt 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.)]

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