Myopathy, distal, 1

Preferred Label : Myopathy, distal, 1;

Symbol : MPD1;

CISMeF acronym : MPD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myopathy, late distal hereditary; Laing distal myopathy; Myopathy, distal, early-onset, autosomal dominant;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the myosin, heavy polypeptide-7, cardiac muscle, beta gene (MYH7, 160760.0029);

Laboratory abnormalities : Normal to mildly increased serum creatine kinase;

Prefixed ID : #160500;

Détails

Origin ID

160500;

UMLS CUI

C4552004;

Automatic exact mappings (from CISMeF team)
- Laing distal myopathy [ICD-11 More detail]
- symbol withdrawn MPD1 [HGNC gene]
Currated CISMeF NLP mapping
- Laing Distal Myopathy [Disease (Nov.)]
- Laing early-onset distal myopathy [ORDO Disease]
- Laing early-onset distal myopathy (disorder) [SNOMED CT concept]
- distal myopathies [MeSH Descriptor]
- distal myopathy 1 [DO Concept]
DO Cross reference
- distal myopathy 1 [DO Concept]
Genes related to phenotype
- Myosin, heavy chain 7, cardiac muscle, beta [OMIM gene]
HPO term(s)
- Amyotrophy of ankle musculature [HPO term]
- Autosomal dominant inheritance [HPO term]
- Childhood onset [HPO term]
- Dilated cardiomyopathy [HPO term]
- Distal muscle weakness [HPO term]
- EMG shows myopathic changes [HPO term]
- EMG: neuropathic changes [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Facial palsy [HPO term]
- Gait disturbance [HPO term]
- High palate [HPO term]
- Infantile onset [HPO term]
- Long, hyperextensible fingers [HPO term]
- Mildly elevated creatine kinase [HPO term]
- Muscle biopsy shows nonspecific myopathic changes [HPO term]
- Myalgia [HPO term]
- Neck muscle weakness [HPO term]
- Pes cavus [HPO term]
- Proximal muscle weakness [HPO term]
- Ragged-red muscle fibers [HPO term]
- Rimmed vacuoles [HPO term]
- Scoliosis [HPO term]
- Slowly progressive [HPO term]
- Toe extensor amyotrophy [HPO term]
- Type 1 muscle fiber predominance [HPO term]
- Weakness [HPO term]
- Weakness of long finger extensor muscles [HPO term]
ORDO concept(s)
- Laing early-onset distal myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Laing Distal Myopathy [Disease (Nov.)]
- Laing early-onset distal myopathy (disorder) [SNOMED CT concept]
- gower's muscular dystrophy [SNOMED Notion]
- welander distal myopathy [MeSH concept]

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