Disease: Paramyotonia Congenita Of Von Eulenburg

Name Paramyotonia Congenita Of Von Eulenburg

Synonyms PARALYSIS PERIODICA PARAMYOTONICA | PARAMYOTONIA CONGENITA WITHOUT COLD PARALYSIS, INCLUDED

Classification genetic, neurological

Phenotypes Autosomal dominant inheritance; Feeding difficulties; Handgrip myotonia; Infantile onset; Inspiratory stridor; Muscle stiffness; Muscle weakness; Myalgia; Neonatal hypotonia; Paradoxical myotonia; Percussion myotonia; Skeletal muscle hypertrophy

Associated Genes SCN4A (Withdrawn symbols: HYKPP, HYPP, Nav1.4, SkM1 )

Mouse Orthologs Scn4a

Source OMIM:168300 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Model: phenotype-based associations

Disease phenotypes are compared with mouse phenotypes, with each mouse model contributing one point to the diagram. Scores are computed according to phenotype specificity and cross-species similarity. X-axis shows the score of the single phenotype that contributes most. Y-axis shows an average among all phenotype matches. The curved line designates a visualization threshold; models below threshold are omitted, except when their genotype matches a disease-associated gene.

Mouse Models

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