Disease: Roussy-Levy Hereditary Areflexic Dystasia

Name Roussy-Levy Hereditary Areflexic Dystasia


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Associated Genes PMP22 (Withdrawn symbols: CMT1A, GAS3, HMSNIA, HNPP, Sp110 ) , MPZ (Withdrawn symbols: CMT1, CMT1B, CMT2I, CMT2J, HMSNIB, P0 )

Mouse Orthologs Pmp22 (Withdrawn symbols: Gas-3, TRE002, Tr ) , Mpz (Withdrawn symbols: Mpp )

Source OMIM:180800 (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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