Congenital myopathy 13

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;

Details

Origin ID

255995;

UMLS CUI

C1850625;

Automatic exact mappings (from CISMeF team)
- Immune-Mediated Necrotizing Myopathy [NCIt concept]
- Immune-mediated necrotizing myopathy [ORDO Disease]
- Nasoalveolar Molding [MeSH Descriptor]
Currated CISMeF NLP mapping
- Native American myopathy [DO Concept]
- Native American myopathy [ICD-11 More detail]
- Native American myopathy [MeSH concept]
- Native American myopathy [ORDO Disease]
- Native American myopathy (disorder) [SNOMED CT concept]
- native american myopathy [MeSH Supplementary Concept]
DO Cross reference
- Native American myopathy [DO Concept]
Genes related to phenotype
- Sh3 and cysteine-rich domains 3 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral talipes equinovarus [HPO term]
- Blepharophimosis [HPO term]
- Brachycephaly [HPO term]
- Cleft palate [HPO term]
- Conductive hearing impairment [HPO term]
- Congenital onset [HPO term]
- Cryptorchidism [HPO term]
- Downslanted palpebral fissures [HPO term]
- Downturned corners of mouth [HPO term]
- Fatty replacement of skeletal muscle [HPO term]
- Feeding difficulties [HPO term]
- Flexion contracture [HPO term]
- Gowers sign [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypercapnia [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Hypoxemia [HPO term]
- Increased intramyocellular lipid droplets [HPO term]
- Intellectual disability [HPO term]
- Kyphoscoliosis [HPO term]
- Low-set ears [HPO term]
- Malignant hyperthermia [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Motor delay [HPO term]
- Multiple skeletal anomalies [HPO term]
- Muscle weakness [HPO term]
- Myopathic facies [HPO term]
- Proximal muscle weakness [HPO term]
- Ptosis [HPO term]
- Restrictive deficit on pulmonary function testing [HPO term]
- Restrictive ventilatory defect [HPO term]
- Scoliosis [HPO term]
- Short palpebral fissure [HPO term]
- Short stature [HPO term]
- Skeletal muscle atrophy [HPO term]
- Talipes [HPO term]
- Telecanthus [HPO term]
- Ventriculomegaly [HPO term]
- Weakness of facial musculature [HPO term]
ORDO concept(s)
- Native American myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Native American myopathy [ORDO Disease]
- Native American myopathy [MeSH concept]
- Native American myopathy [DO Concept]
- Native American myopathy [ICD-11 More detail]
- Native American myopathy (disorder) [SNOMED CT concept]
- native american myopathy [MeSH Supplementary Concept]

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