Paramyotonia congenita

Preferred Label : Paramyotonia congenita;

Symbol : PMC;

CISMeF acronym : PMC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Paralysis periodica paramyotonica; Paramyotonia congenita of von eulenburg;

Included titles and symbols : Paramyotonia congenita without cold paralysis;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the alpha-subunit of the type IV voltage-gated sodium channel gene (SCN4A, 603967.0003);

Prefixed ID : #168300;

Details

Origin ID

168300;

UMLS CUI

C0221055;

Automatic exact mappings (from CISMeF team)
- Microunit (qualifier value) [SNOMED CT concept]
- Paramyotonia Congenita without Cold Paralysis [NCIt concept]
- Phenylmercuric Chloride [NCIt concept]
- Pseudomembranous colitis [ICD-11 More detail]
- myotonic disorders [MeSH Descriptor]
- paramyotonia congenita without cold paralysis [MeSH concept]
- pmc [EDAM format]
Currated CISMeF NLP mapping
- Congenital paramyotonia [PASCAL descriptor]
- Paramyotonia Congenita [NCIt concept]
- Paramyotonia congenita [ICD-11 Subcategory]
- Paramyotonia congenita (disorder) [SNOMED CT concept]
- Paramyotonia congenita of Von Eulenburg [ORDO Disease]
- paramyotonia congenita [MeSH concept]
- paramyotonia congenita [SNOMED Notion]
- paramyotonia congenita of Von Eulenburg [DO Concept]
DO Cross reference
- paramyotonia congenita of Von Eulenburg [DO Concept]
Genes related to phenotype
- Sodium voltage-gated channel, alpha subunit 4 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Feeding difficulties [HPO term]
- Handgrip myotonia [HPO term]
- Infantile onset [HPO term]
- Inspiratory stridor [HPO term]
- Muscle stiffness [HPO term]
- Muscle weakness [HPO term]
- Myalgia [HPO term]
- Neonatal hypotonia [HPO term]
- Paradoxical myotonia [HPO term]
- Percussion myotonia [HPO term]
- Skeletal muscle hypertrophy [HPO term]
Not associated HPO term(s)
- Myopathy [HPO term]
ORDO concept(s)
- Paramyotonia congenita of Von Eulenburg [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital paramyotonia [PASCAL descriptor]
- Paramyotonia Congenita [NCIt concept]
- Paramyotonia congenita [MedDRA Preferred Term]
- Paramyotonia congenita (disorder) [SNOMED CT concept]
- Paramyotonia congenita of Von Eulenburg [ORDO Disease]
- paramyotonia congenita [SNOMED Notion]
- paramyotonia congenita [MeSH concept]
- paramyotonia congenita of Von Eulenburg [DO Concept]

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