Myopathy, myofibrillar, 6

Preferred Label : Myopathy, myofibrillar, 6;

Symbol : MFM6;

CISMeF acronym : MFM6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the BCL2-associated athanogene 3 gene (BAG3, 603883.0001);

Laboratory abnormalities : Markedly increased serum creatine kinase;

Prefixed ID : #612954;

Détails

Origin ID

612954;

UMLS CUI

C2751831;

Automatic exact mappings (from CISMeF team)
- Muscular dystrophy, Selcen type [ORDO Disease]
Currated CISMeF NLP mapping
- myofibrillar myopathy 6 [DO Concept]
- myopathy, myofibrillar, Bag3-Related [MeSH Supplementary Concept]
- myopathy, myofibrillar, Bag3-Related [MeSH concept]
DO Cross reference
- myofibrillar myopathy 6 [DO Concept]
Genes related to phenotype
- Bcl2-associated athanogene 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Axonal loss [HPO term]
- Demyelinating peripheral neuropathy [HPO term]
- Diaphragmatic paralysis [HPO term]
- Distal sensory impairment [HPO term]
- EMG shows myopathic changes [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Easy fatigability [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Facial palsy [HPO term]
- Generalized amyotrophy [HPO term]
- Hypernasal speech [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Hyporeflexia [HPO term]
- Knee contractures [HPO term]
- Knee flexion contracture [HPO term]
- Muscle atrophy, diffuse [HPO term]
- Muscle biopsy shows dystrophic changes [HPO term]
- Muscle weakness, severe [HPO term]
- Muscular dystrophy [HPO term]
- Myofibrillar myopathy [HPO term]
- Nasal speech [HPO term]
- Pes cavus [HPO term]
- Rapidly progressive [HPO term]
- Reduced forced vital capacity [HPO term]
- Respiratory insufficiency [HPO term]
- Scoliosis [HPO term]
- Spinal rigidity [HPO term]
ORDO concept(s)
- Muscular dystrophy, Selcen type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Muscular dystrophy, Selcen type [ORDO Disease]
- myofibrillar myopathy 6 [DO Concept]
- myopathy, myofibrillar, Bag3-Related [MeSH concept]
- myopathy, myofibrillar, Bag3-Related [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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