Congenital myopathy 23

Preferred Label : Congenital myopathy 23;

Symbol : CMYO23;

CISMeF acronym : CAPM2; NEM4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cap myopathy 2; CAPM2; NEM4; Nemaline myopathy 4;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the tropomyosin 2 gene (TPM2, 190990.0002);

Prefixed ID : #609285;

Details

Origin ID

609285;

UMLS CUI

C1836447;

Automatic exact mappings (from CISMeF team)
- Cap myopathy [ORDO Disease]
- Multiple endocrine neoplasia type 4 [ORDO Disease]
- TPM2 wt Allele [NCIt concept]
- tropomyosin 2 [ORDO Gene]
- tropomyosin 2 [HGNC gene]
Broader ORDO disease(s)
- Nemaline myopathy [ORDO Disease]
Currated CISMeF NLP mapping
- Nemaline Myopathy 4 [NCIt concept]
- Nemaline myopathy 4 [MeSH concept]
- nemaline myopathy 4 [DO Concept]
- nemaline myopathy 4 [MeSH Supplementary Concept]
DO Cross reference
- nemaline myopathy 4 [DO Concept]
Genes related to phenotype
- Tropomyosin 2 [OMIM gene]
HPO term(s)
- Angulated muscle fibers [HPO term]
- Autosomal dominant inheritance [HPO term]
- Central core regions in muscle fibers [HPO term]
- Centrally nucleated skeletal muscle fibers [HPO term]
- Childhood onset [HPO term]
- Congenital onset [HPO term]
- Delayed ability to walk [HPO term]
- Difficulty walking [HPO term]
- Dysphagia [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Exercise-induced myalgia [HPO term]
- Facial diplegia [HPO term]
- Falls [HPO term]
- Fatigue [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Fiber type grouping [HPO term]
- Flexion contracture [HPO term]
- Gait disturbance [HPO term]
- Generalized hypotonia [HPO term]
- Gowers sign [HPO term]
- Heterogeneous [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypertonia [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Joint contracture [HPO term]
- Juvenile onset [HPO term]
- Kyphoscoliosis [HPO term]
- Limb muscle weakness [HPO term]
- Lower limb muscle weakness [HPO term]
- Motor delay [HPO term]
- Muscle fiber splitting [HPO term]
- Myofiber disarray [HPO term]
- Myopathic facies [HPO term]
- Neck muscle weakness [HPO term]
- Nemaline bodies [HPO term]
- Pectus carinatum [HPO term]
- Pes planus [HPO term]
- Proximal muscle weakness [HPO term]
- Psychosis [HPO term]
- Reduced vital capacity [HPO term]
- Scapular winging [HPO term]
- Schizophrenia [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Skeletal muscle atrophy [HPO term]
- Thoracic kyphosis [HPO term]
- Tip-toe gait [HPO term]
- Type 1 muscle fiber predominance [HPO term]
- Variable expressivity [HPO term]
- Waddling gait [HPO term]
Narrower ORDO disease(s)
- Cap myopathy [ORDO Disease]
ORDO concept(s)
- Cap myopathy [ORDO Disease]
- Childhood-onset nemaline myopathy [ORDO Disease]
- Typical nemaline myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nemaline Myopathy 4 [NCIt concept]
- Nemaline myopathy 4 [MeSH concept]
- nemaline myopathy 4 [MeSH Supplementary Concept]
- nemaline myopathy 4 [DO Concept]

Keyword's position in hierarchy(ies) :

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