Inclusion body myopathy and brain white matter abnormalities

Preferred Label : Inclusion body myopathy and brain white matter abnormalities;

Symbol : IBMWMA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Multisystem proteinopathy 6; MSP6;

Prefixed ID : #619733;

Details

Origin ID

619733;

UMLS CUI

C5676909;

Genes related to phenotype
- Annexin a11 [OMIM gene]
HPO term(s)
- Abdominal wall muscle weakness [HPO term]
- Angulated muscle fibers [HPO term]
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Centrally nucleated skeletal muscle fibers [HPO term]
- Cognitive impairment [HPO term]
- Drooling [HPO term]
- Dysarthria [HPO term]
- EMG: positive sharp waves [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Fasciculations [HPO term]
- Fatty replacement of skeletal muscle [HPO term]
- Fiber type grouping [HPO term]
- Hyporeflexia [HPO term]
- Increased endomysial connective tissue [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Late young adult onset [HPO term]
- Low back pain [HPO term]
- Middle age onset [HPO term]
- Proximal muscle weakness in lower limbs [HPO term]
- Proximal muscle weakness in upper limbs [HPO term]
- Ptosis [HPO term]
- Rimmed vacuoles [HPO term]
- Scapular winging [HPO term]
- Weakness of facial musculature [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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