Myopathy, myofibrillar, 9, with early respiratory failure

Preferred Label : Myopathy, myofibrillar, 9, with early respiratory failure;

Symbol : MFM9;

CISMeF acronym : HMERF; MPRM; MFM9;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MPRM; Myopathy, proximal, with early respiratory muscle involvement; Edstrom myopathy; Myopathy, distal, with early respiratory failure, autosomal dominant; Hereditary myopathy with early respiratory failure; HMERF;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the titin gene (TTN, 188840.0011);

Laboratory abnormalities : Increased creatine kinase, mild to moderate;

Prefixed ID : #603689;

Details

Origin ID

603689;

UMLS CUI

C1863599;

Automatic exact mappings (from CISMeF team)
- Hereditary myopathy with early respiratory failure [ICD-11 More detail]
- TTN wt Allele [NCIt concept]
- myofibrillar myopathy 9 [DO Concept]
Currated CISMeF NLP mapping
- Hereditary myopathy with early respiratory failure [ORDO Disease]
- Hereditary myopathy with early respiratory failure (disorder) [SNOMED CT concept]
- hereditary myopathy with early respiratory failure [MeSH concept]
- hereditary myopathy with early respiratory failure [MeSH Supplementary Concept]
DO Cross reference
- myofibrillar myopathy 9 [DO Concept]
Genes related to phenotype
- Titin [OMIM gene]
HPO term(s)
- Achilles tendon contracture [HPO term]
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Calf muscle hypertrophy [HPO term]
- Diaphragmatic weakness [HPO term]
- Difficulty walking [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Frequent falls [HPO term]
- Gait disturbance [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Muscle fiber splitting [HPO term]
- Myofibrillar myopathy [HPO term]
- Neck flexor weakness [HPO term]
- Nocturnal hypoventilation [HPO term]
- Pelvic girdle muscle weakness [HPO term]
- Proximal muscle weakness [HPO term]
- Quadriceps muscle weakness [HPO term]
- Reduced vital capacity [HPO term]
- Respiratory failure [HPO term]
- Rimmed vacuoles [HPO term]
- Scapular winging [HPO term]
- Shoulder girdle muscle weakness [HPO term]
- Slowly progressive [HPO term]
ORDO concept(s)
- Hereditary myopathy with early respiratory failure [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary myopathy with early respiratory failure [ORDO Disease]
- Hereditary myopathy with early respiratory failure (disorder) [SNOMED CT concept]
- hereditary myopathy with early respiratory failure [MeSH Supplementary Concept]
- hereditary myopathy with early respiratory failure [MeSH concept]

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