Disease: Roussy-Levy Hereditary Areflexic Dystasia

Name Roussy-Levy Hereditary Areflexic Dystasia

Synonyms ROUSSY-LEVY SYNDROME

Classification genetic, neurological

Phenotypes Abnormality of the immune system; Areflexia; Autosomal dominant inheritance; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Gait ataxia; Hammertoe; Hypertrophic nerve changes; Hyporeflexia; Juvenile onset; Kyphoscoliosis; Motor delay; Onion bulb formation; Pes cavus; Segmental peripheral demyelination/remyelination; Slow progression; Upper limb postural tremor

Associated Genes MPZ (Withdrawn symbols: CMT1, CMT1B, CMT2I, CMT2J, HMSNIB ) , PMP22 (Withdrawn symbols: GAS3, HNPP, Sp110 )

Mouse Orthologs Mpz (Withdrawn symbols: Mpp ) , Pmp22 (Withdrawn symbols: Gas-3, TRE002, Tr )

Source OMIM:180800 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)

Mouse Models 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.