Preferred Label : Congenital myopathy 13;
Symbol : CMYO13;
CISMeF acronym : MYPBB; NAM;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Native american myopathy; Myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia; NAM; MYPBB; Myopathy, congenital, bailey-bloch;
Description : Native American myopathy (NAM) is an autosomal recessive disorder characterized by
congenital weakness and arthrogryposis, cleft palate, ptosis, myopathic facies, short
stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia
provoked by anesthesia. It was first reported in the Lumbee Indian tribe in North
Carolina (summary by Stamm et al., 2008).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the SH3 and cysteine-rich domains 3 gene (STAC3, 615521.0001);
Laboratory abnormalities : Serum creatine kinase may be increased; Increased prevalence among the Native American Lumbee Indians;
Prefixed ID : #255995;
Origin ID : 255995;
UMLS CUI : C1850625;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
False automatic mappings
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)