Myopathy, centronuclear, 2

Preferred Label : Myopathy, centronuclear, 2;

Symbol : CNM2;

CISMeF acronym : CNM2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myopathy, centronuclear, autosomal recessive; Myotubular myopathy, autosomal recessive;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the bridging integrator 1 gene (BIN1, 601248.0001);

Prefixed ID : #255200;

Details

Origin ID

255200;

UMLS CUI

C0410204;

Automatic exact mappings (from CISMeF team)
- autosomal recessive centronuclear myopathy [DO Concept]
- centronuclear myopathy 2 [DO Concept]
- myopathies, structural, congenital [MeSH Descriptor]
Currated CISMeF NLP mapping
- Autosomal recessive centronuclear myopathy [ICD-11 More detail]
- Autosomal recessive centronuclear myopathy [ORDO Disease]
- Autosomal recessive centronuclear myopathy (disorder) [SNOMED CT concept]
- autosomal recessive centronuclear myopathy [MeSH concept]
- myopathy, centronuclear, autosomal recessive [MeSH concept]
- myopathy, centronuclear, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- centronuclear myopathy 2 [DO Concept]
Genes related to phenotype
- Bridging integrator 1 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Axial muscle weakness [HPO term]
- Centrally nucleated skeletal muscle fibers [HPO term]
- Distal muscle weakness [HPO term]
- Dysarthria [HPO term]
- Dysphonia [HPO term]
- EMG shows myopathic changes [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Facial palsy [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Flexion contracture [HPO term]
- Generalized amyotrophy [HPO term]
- Gowers sign [HPO term]
- High palate [HPO term]
- Hyperlordosis [HPO term]
- Intellectual disability, mild [HPO term]
- Kyphosis [HPO term]
- Long face [HPO term]
- Motor delay [HPO term]
- Muscle weakness, predominantly proximal [HPO term]
- Neonatal hypotonia [HPO term]
- Onset [HPO term]
- Ophthalmoplegia [HPO term]
- Pes cavus [HPO term]
- Proximal muscle weakness [HPO term]
- Ptosis [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Scapular winging [HPO term]
- Scoliosis [HPO term]
- Talipes equinovarus [HPO term]
- Variable age at onset [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Autosomal recessive centronuclear myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive centronuclear myopathy [ORDO Disease]
- Autosomal recessive centronuclear myopathy [ICD-11 More detail]
- Autosomal recessive centronuclear myopathy (disorder) [SNOMED CT concept]
- centronuclear myopathy 2 [DO Concept]
- myopathy, centronuclear, autosomal recessive [MeSH Supplementary Concept]
- myopathy, centronuclear, autosomal recessive [MeSH concept]
Validated automatic mappings to NTBT
- centronuclear myopathy [DO Concept]

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