Myasthenic syndrome, congenital, 23, presynaptic

Preferred Label : Myasthenic syndrome, congenital, 23, presynaptic;

Symbol : CMS23;

CISMeF acronym : CMS23;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1 gene (SLC25A1, 190315.0007);

Laboratory abnormalities : Normal serum lactate at rest; Increased serum lactate after exercise;

Prefixed ID : #618197;

Details

Origin ID

618197;

UMLS CUI

C4748678;

Genes related to phenotype
- Solute carrier family 25 (mitochondrial carrier, citrate transporter), member 1 [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Calf muscle hypertrophy [HPO term]
- Delayed ability to walk [HPO term]
- Easy fatigability [HPO term]
- Frequent falls [HPO term]
- Hyporeflexia [HPO term]
- Motor delay [HPO term]
- Muscle weakness [HPO term]
- Neck muscle weakness [HPO term]
- Ptosis [HPO term]
ORDO concept(s)
- Presynaptic congenital myasthenic syndromes [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Presynaptic congenital myasthenic syndromes [ORDO Disease]

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