Congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia

Preferred Label : Congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia;

Symbol : CMYP1A;

CISMeF acronym : CCD; CCO; CNMDU1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CCO; Central core disease of muscle; CCD;

Description : Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1; 145600). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009).;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutations in the ryanodine receptor 1 gene (RYR1, 180901.0003);

Prefixed ID : #117000;

Details

Origin ID

117000;

UMLS CUI

C0751951;

Automatic exact mappings (from CISMeF team)
- CCD [LOINC System]
- CCD [LOINC Challenge]
- Carmustine/Cyclophosphamide/Dexamethasone [NCIt concept]
- Celiac infantilism (disorder) [SNOMED CT concept]
- Charge coupled device (physical object) [SNOMED CT concept]
- Coeliac disease [ICD-11 Category]
- Moderate multi-minicore disease with hand involvement [ICD-11 More detail]
- Moderate multiminicore disease with hand involvement [ORDO Disease]
- Multiminicore myopathy [ORDO Disease]
- RUNX2 wt Allele [NCIt concept]
- RYR1 wt Allele [NCIt concept]
- minicore myopathy, moderate, with hand involvement [MeSH Supplementary Concept]
- minicore myopathy, moderate, with hand involvement [MeSH concept]
- multicore myopathy, moderate, with hand involvement [MeSH concept]
- multiminicore disease, moderate, with hand involvement [MeSH concept]
- neuromuscular disease, congenital, with uniform type 1 fiber [MeSH concept]
- neuromuscular disease, congenital, with uniform type 1 fiber [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Central Core Disease [NCIt concept]
- Central core disease [MedDRA Preferred Term]
- Central core disease [ICD-11 Sub-sub category]
- Central core disease [ORDO Disease]
- Central core disease (disorder) [SNOMED CT concept]
- Central core myopathy [PASCAL descriptor]
- central core disease [DO Concept]
- central core disease [Disease (Nov.)]
- central core disease [SNOMED Notion]
- myopathy, central core [MeSH Descriptor]
- myopathy, central core [MeSH concept]
DO Cross reference
- central core disease [DO Concept]
False automatic mappings
- CCD Regimen [NCIt concept]
Genes related to phenotype
- Ryanodine receptor 1 [OMIM gene]
HPO term(s)
- Ankle flexion contracture [HPO term]
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Central core regions in muscle fibers [HPO term]
- Centrally nucleated skeletal muscle fibers [HPO term]
- Congenital hip dislocation [HPO term]
- Delayed ability to walk [HPO term]
- Feeding difficulties [HPO term]
- Generalized muscle weakness [HPO term]
- Hyporeflexia [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Infantile onset [HPO term]
- Motor delay [HPO term]
- Muscle weakness [HPO term]
- Muscle weakness, diffuse [HPO term]
- Nemaline bodies [HPO term]
- Neonatal hypotonia [HPO term]
- Neonatal onset [HPO term]
- Nonprogressive or slowly progressive [HPO term]
- Pes planus [HPO term]
- Scoliosis [HPO term]
- Skeletal muscle atrophy [HPO term]
- Slowly progressive [HPO term]
- Talipes [HPO term]
- Type 1 muscle fiber predominance [HPO term]
- Weakness of facial musculature [HPO term]
Narrower ORDO disease(s)
- Moderate multiminicore disease with hand involvement [ORDO Disease]
Not associated HPO term(s)
- Malignant hyperthermia [HPO term]
ORDO concept(s)
- Central core disease [ORDO Disease]
- Moderate multiminicore disease with hand involvement [ORDO Disease]
- Multiminicore myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Central Core Disease [NCIt concept]
- Central core disease [MedDRA Preferred Term]
- Central core disease [ORDO Disease]
- Central core disease [ICD-11 Sub-sub category]
- Central core disease (disorder) [SNOMED CT concept]
- Central core myopathy [PASCAL descriptor]
- Shy-Magee syndrome [MedDRA LLT]
- central core disease [SNOMED Notion]
- central core disease [DO Concept]
- central core disease [Disease (Nov.)]
- myopathy, central core [MeSH Descriptor]
- myopathy, central core [MeSH concept]

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