Congenital myopathy 4b, autosomal recessive

Preferred Label : Congenital myopathy 4b, autosomal recessive;

Symbol : CMYO4B;

CISMeF acronym : CAPM1; NEM1;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the tropomyosin-3 gene (TPM3, 191030.0001);

Prefixed ID : #609284;

Details

Origin ID

609284;

UMLS CUI

C5829889;

Automatic exact mappings (from CISMeF team)
- Multiple endocrine neoplasia type 1 [ORDO Disease]
- Multiple endocrine neoplasia type 1 [ICD-11 More detail]
- TPM3 wt Allele [NCIt concept]
- multiple endocrine neoplasia type 1 [MeSH Descriptor]
Broader ORDO disease(s)
- Nemaline myopathy [ORDO Disease]
Currated CISMeF NLP mapping
- Nemaline myopathy 1 [MeSH concept]
- nemaline myopathy 1 [DO Concept]
- nemaline myopathy 1 [MeSH Supplementary Concept]
DO Cross reference
- nemaline myopathy 1 [DO Concept]
Genes related to phenotype
- Tropomyosin 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Distal lower limb amyotrophy [HPO term]
- Distal lower limb muscle weakness [HPO term]
- Dysphagia [HPO term]
- EMG shows myopathic changes [HPO term]
- EMG: myopathic abnormalities [HPO term]
- Facial diplegia [HPO term]
- Flexion contracture [HPO term]
- Generalized muscle weakness [HPO term]
- Heterogeneous [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Juvenile onset [HPO term]
- Long face [HPO term]
- Motor delay [HPO term]
- Muscle atrophy, lower limb, distal [HPO term]
- Narrow face [HPO term]
- Neck muscle weakness [HPO term]
- Nemaline bodies [HPO term]
- Pectus excavatum [HPO term]
- Pes cavus [HPO term]
- Proximal muscle weakness [HPO term]
- Respiratory insufficiency [HPO term]
- Scoliosis [HPO term]
- Shoulder girdle muscle atrophy [HPO term]
- Weakness [HPO term]
ORDO concept(s)
- Cap myopathy [ORDO Disease]
- Childhood-onset nemaline myopathy [ORDO Disease]
- Intermediate nemaline myopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nemaline myopathy 1 [MeSH concept]
- nemaline myopathy 1 [MeSH Supplementary Concept]
- nemaline myopathy 1 [DO Concept]

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