Myasthenic syndrome, congenital, 5

Preferred Label : Myasthenic syndrome, congenital, 5;

Symbol : CMS5;

CISMeF acronym : CMS5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CMS1C; Endplate acetylcholinesterase deficiency; Myasthenic syndrome, congenital, engel type; Congenital myasthenic syndrome type ic; EAD; Cms ic; Engel congenital myasthenic syndrome;

Description : Congenital myasthenic syndromes (CMS) are genetic disorders of the neuromuscular junction that can be classified by the site of the transmission defect: presynaptic, synaptic, and postsynaptic. Endplate AChE deficiency is an autosomal recessive congenital myasthenic syndrome characterized by a defect within the synapse at the neuromuscular junction. For a discussion of genetic heterogeneity of CMS, see 608931.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the collagenic tail of endplate acetylcholinesterase gene (COLQ, 603033.0001);

Prefixed ID : #603034;

Details

Origin ID

603034;

UMLS CUI

C1864233;

Automatic exact mappings (from CISMeF team)
- Enhanced Academic Detailing [NCIt concept]
- collagen like tail subunit of asymmetric acetylcholinesterase [ORDO Gene]
Currated CISMeF NLP mapping
- Congenital Myasthenic Syndrome 5 [NCIt concept]
- Congenital end-plate acetylcholinesterase deficiency (disorder) [SNOMED CT concept]
- congenital myasthenic syndrome 5 [DO Concept]
- endplate acetylcholinesterase deficiency [MeSH concept]
- endplate acetylcholinesterase deficiency [MeSH Supplementary Concept]
DO Cross reference
- congenital myasthenic syndrome 5 [DO Concept]
Genes related to phenotype
- Collagenic tail of endplate acetylcholinesterase [OMIM gene]
HPO term(s)
- Abnormality of the immune system [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased muscle mass [HPO term]
- Decreased size of nerve terminals [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- EMG: decremental response of compound muscle action potential to repetitive nerve stimulation [HPO term]
- Easy fatigability [HPO term]
- Fatigable weakness [HPO term]
- Feeding difficulties in infancy [HPO term]
- Generalized hypotonia [HPO term]
- Generalized muscle weakness [HPO term]
- Hyperlordosis [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Limb muscle weakness [HPO term]
- Lordosis [HPO term]
- Myopathy [HPO term]
- Ophthalmoparesis [HPO term]
- Poor feeding due to muscle weakness [HPO term]
- Prolonged miniature endplate currents [HPO term]
- Ptosis [HPO term]
- Respiratory insufficiency [HPO term]
- Respiratory insufficiency due to muscle weakness [HPO term]
- Scoliosis [HPO term]
- Type 2 muscle fiber atrophy [HPO term]
- Weak cry [HPO term]
- Weakness [HPO term]
ORDO concept(s)
- Congenital myasthenic syndrome [ORDO Disease]
- Synaptic congenital myasthenic syndromes [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Myasthenic Syndrome 5 [NCIt concept]
- congenital myasthenic syndrome 5 [DO Concept]
- endplate acetylcholinesterase deficiency [MeSH Supplementary Concept]
- endplate acetylcholinesterase deficiency [MeSH concept]
Validated automatic mappings to NTBT
- Congenital myasthenic syndrome [ORDO Disease]
- Synaptic congenital myasthenic syndromes [ORDO Disease]

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