Myopathy, tubular aggregate, 2

Preferred Label : Myopathy, tubular aggregate, 2;

Symbol : TAM2;

CISMeF acronym : TAM2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ORAI calcium release-activated calcium modulator 1 gene (ORAI1, 610277.0002);

Laboratory abnormalities : Increased serum creatine kinase; Hypocalcemia (in some patients);

Prefixed ID : #615883;

Details

Origin ID

615883;

UMLS CUI

C4014557;

Currated CISMeF NLP mapping
- tubular aggregate myopathy 2 [DO Concept]
DO Cross reference
- tubular aggregate myopathy 2 [DO Concept]
Genes related to phenotype
- Orai calcium release-activated calcium modulator 1 [OMIM gene]
HPO term(s)
- Areflexia of lower limbs [HPO term]
- Autosomal dominant inheritance [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Falls [HPO term]
- Flexion contracture [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Generalized muscle weakness [HPO term]
- Hypocalcemia [HPO term]
- Miosis [HPO term]
- Muscle weakness [HPO term]
- Neck muscle weakness [HPO term]
- Proximal muscle weakness [HPO term]
- Slowly progressive [HPO term]
- Spinal rigidity [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Tubular aggregate myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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