Myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominant

Preferred Label : Myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominant;

Symbol : CMS7A;

CISMeF acronym : CMS7; MYSPC;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the synaptotagmin-2 gene (SYT2, 600104.0001);

Prefixed ID : #616040;

Details

Origin ID

616040;

UMLS CUI

C4015038;

CISMeF manual mappings
- congenital myasthenic syndrome 7 [DO Concept]
DO Cross reference
- congenital myasthenic syndrome 7 [DO Concept]
Genes related to phenotype
- Synaptotagmin 2 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Childhood onset [HPO term]
- Compound muscle action potential amplitude facilitation [HPO term]
- Decreased compound muscle action potential amplitude [HPO term]
- Distal amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- Distal sensory impairment [HPO term]
- Easy fatigability [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Hammertoe [HPO term]
- Hearing impairment [HPO term]
- Hyporeflexia [HPO term]
- Motor delay [HPO term]
- Pes cavus [HPO term]
- Pes planus [HPO term]
- Proximal amyotrophy [HPO term]
- Proximal muscle weakness [HPO term]
- Waddling gait [HPO term]
ORDO concept(s)
- Congenital myasthenic syndrome [ORDO Disease]
- Presynaptic congenital myasthenic syndromes [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- congenital myasthenic syndrome 7 [DO Concept]
Validated automatic mappings to NTBT
- Congenital myasthenic syndrome [ORDO Disease]
- Presynaptic congenital myasthenic syndromes [ORDO Disease]

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