Myasthenic syndrome, congenital, 10

Preferred Label : Myasthenic syndrome, congenital, 10;

Symbol : CMS10;

CISMeF acronym : CMS1B; CMS10; LGM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Myasthenia, limb-girdle, familial; Cms ib; CMS1B; Myasthenic myopathy; Congenital myasthenic syndrome type ib; LGM;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the downstream of tyrosine kinase 7 gene (DOK7, 610285.0001);

Laboratory abnormalities : Mildly increased serum creatine kinase;

Prefixed ID : #254300;

Details

Origin ID

254300;

UMLS CUI

C1850792;

Automatic exact mappings (from CISMeF team)
- Congenital myasthenic syndrome ib [MeSH concept]
- Limb-girdle myasthenia, familial [ICD-11 More detail]
- Myopathy in myasthenia gravis (disorder) [SNOMED CT concept]
- congenital myasthenic syndrome 1B [DO Concept]
- congenital myasthenic syndrome ib [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- congenital myasthenic syndrome 10 [DO Concept]
DO Cross reference
- congenital myasthenic syndrome 10 [DO Concept]
Genes related to phenotype
- Downstream of tyrosine kinase 7 [OMIM gene]
HPO term(s)
- Abnormality of the immune system [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bulbar palsy [HPO term]
- Decreased fetal movement [HPO term]
- Distal amyotrophy [HPO term]
- Easy fatigability [HPO term]
- Facial palsy [HPO term]
- Fatigable weakness [HPO term]
- Gowers sign [HPO term]
- Juvenile onset [HPO term]
- Mildly elevated creatine kinase [HPO term]
- Muscle spasm [HPO term]
- Ophthalmoparesis [HPO term]
- Proximal amyotrophy [HPO term]
- Proximal muscle weakness due to defect at the neuromuscular junction [HPO term]
- Ptosis [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Congenital myasthenic syndrome [ORDO Disease]
- Postsynaptic congenital myasthenic syndromes [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital myasthenic syndrome ib [MeSH concept]
- congenital myasthenic syndrome 10 [DO Concept]
- congenital myasthenic syndrome ib [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Congenital myasthenic syndrome [ORDO Disease]

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