Scapuloperoneal myopathy, X-linked dominant

Preferred Label : Scapuloperoneal myopathy, X-linked dominant;

Symbol : SPM;

CISMeF acronym : SPM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Scapuloperoneal myopathy, fhl1-related;

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the four-and-a-half lim domains 1 gene (FHL1, 300163.0001);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #300695;

Details

Origin ID

300695;

UMLS CUI

C2678061;

Automatic exact mappings (from CISMeF team)
- Atomic Resolution Microscopy [NCIt concept]
- Raven Standard Progressive Matrices (assessment scale) [SNOMED CT concept]
- Scanning Probe Microscope [NCIt concept]
- Statistical Parameter Mapping [NCIt concept]
- X-linked scapuloperoneal muscular dystrophy [ORDO Disease]
- myocardial perfusion imaging [MeSH Descriptor]
- premenstrual syndrome [MeSH Descriptor]
Currated CISMeF NLP mapping
- scapuloperoneal myopathy, X-Linked dominant [MeSH concept]
- scapuloperoneal myopathy, X-Linked dominant [MeSH Supplementary Concept]
- x linked dominant scapuloperoneal myopathy [Disease (Nov.)]
DO Cross reference
- scapuloperoneal myopathy [DO Concept]
False automatic mappings
- Saint Pierre and Miquelon [NCIt concept]
Genes related to phenotype
- Four-and-a-half lim domains 1 [OMIM gene]
HPO term(s)
- Abnormality of cardiac conduction [HPO term]
- Adult onset [HPO term]
- Arrhythmia [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Flexion contracture [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Foot drop [HPO term]
- Hyporeflexia [HPO term]
- Lower limb muscle weakness [HPO term]
- Myofibrillar myopathy [HPO term]
- Myopathy [HPO term]
- Proximal muscle weakness [HPO term]
- Scapular winging [HPO term]
- Scapuloperoneal myopathy [HPO term]
- Skeletal muscle atrophy [HPO term]
- Steppage gait [HPO term]
- Waddling gait [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- X-linked scapuloperoneal muscular dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- scapuloperoneal myopathy, X-Linked dominant [MeSH Supplementary Concept]
- scapuloperoneal myopathy, X-Linked dominant [MeSH concept]
- x linked dominant scapuloperoneal myopathy [Disease (Nov.)]
Validated automatic mappings to NTBT
- scapuloperoneal myopathy [DO Concept]

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