Myopathy, tubular aggregate, 1

Preferred Label : Myopathy, tubular aggregate, 1;

Symbol : TAM1;

CISMeF acronym : TAM; TAM1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Tubular aggregate myopathy; TAM; Myopathy, tubular aggregate;

Description : Tubular aggregates in muscle, first described by Engel (1964), are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. They are a nonspecific pathologic finding that may occur in a variety of circumstances, including alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness, and inherited myopathies. Tubular aggregates are derived from the sarcoplasmic reticulum (Salviati et al., 1985) and are believed to represent an adaptive mechanism aimed at regulating an increased intracellular level of calcium in order to prevent the muscle fibers from hypercontraction and necrosis (Martin et al., 1997; Muller et al., 2001).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the stromal interaction molecule 1 gene (STIM1, 605921.0004);

Laboratory abnormalities : Increased serum creatine kinase;

Prefixed ID : #160565;

Details

Origin ID

160565;

UMLS CUI

C4011726;

Currated CISMeF NLP mapping
- Myopathy with tubular aggregates [ICD-11 More detail]
- Myopathy with tubular aggregates (disorder) [SNOMED CT concept]
- Tubular aggregate myopathy [ORDO Disease]
- tubular aggregate myopathy [MeSH concept]
- tubular aggregate myopathy 1 [DO Concept]
DO Cross reference
- tubular aggregate myopathy 1 [DO Concept]
False automatic mappings
- ITAM [NCIt concept]
- Tamil Language [NCIt concept]
- Tamoxifen Citrate [NCIt concept]
- Transient Abnormal Myelopoiesis Associated with Down Syndrome [NCIt concept]
- Tumor-Associated Macrophage [NCIt concept]
- myopathies, structural, congenital [MeSH Descriptor]
- transient myeloproliferative syndrome [DO Concept]
Genes related to phenotype
- Stromal interaction molecule 1 [OMIM gene]
HPO term(s)
- Abnormal pupil morphology [HPO term]
- Adult onset [HPO term]
- Areflexia of lower limbs [HPO term]
- Autosomal dominant inheritance [HPO term]
- Difficulties with night vision [HPO term]
- Difficulty running [HPO term]
- Easy fatigability [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Exercise-induced myalgia [HPO term]
- External ophthalmoplegia [HPO term]
- Flexion contracture [HPO term]
- Frequent falls [HPO term]
- Hyporeflexia of lower limbs [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Muscle spasm [HPO term]
- Muscle stiffness [HPO term]
- Myopathy [HPO term]
- Nyctalopia [HPO term]
- Proximal amyotrophy [HPO term]
- Proximal muscle weakness [HPO term]
- Respiratory insufficiency [HPO term]
- Slowly progressive [HPO term]
- Type 2 muscle fiber atrophy [HPO term]
- Weakness [HPO term]
- Weakness of the intrinsic hand muscles [HPO term]
ORDO concept(s)
- Tubular aggregate myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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