Roussy-levy hereditary areflexic dystasia

Preferred Label : Roussy-levy hereditary areflexic dystasia;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Roussy-levy syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the myelin protein zero gene (MPZ, 159440.0021); Caused by mutation in the peripheral myelin protein-22 gene (PMP22, 601097.0001);

Prefixed ID : #180800;

Details

Origin ID

180800;

UMLS CUI

C0205713;

Automatic exact mappings (from CISMeF team)
- Hereditary areflexic dystasia [MedDRA Preferred Term]
- Roussy-Levy syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Hereditary motor and sensory neuropathy [ICD-10 Sub-category]
- Hereditary motor and sensory neuropathy [ICD-10 Sub-category (who)]
- Roussy-Levy syndrome [MeSH concept]
- Roussy-Levy syndrome [MedDRA LLT]
- Roussy-Lévy syndrome [ORDO Disease]
- Roussy-Lévy syndrome (disorder) [SNOMED CT concept]
- charcot-marie-tooth disease [MeSH Descriptor]
- roussy-levy syndrome [SNOMED Notion]
Genes related to phenotype
- Myelin protein zero [OMIM gene]
- Peripheral myelin protein 22 [OMIM gene]
HPO term(s)
- Abnormality of the immune system [HPO term]
- Action tremor [HPO term]
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Decreased number of peripheral myelinated nerve fibers [HPO term]
- Distal amyotrophy [HPO term]
- Distal limb muscle atrophy due to peripheral neuropathy [HPO term]
- Distal limb muscle weakness [HPO term]
- Distal limb muscle weakness due to peripheral neuropathy [HPO term]
- Distal muscle weakness [HPO term]
- Distal sensory impairment [HPO term]
- Gait ataxia [HPO term]
- Hammertoe [HPO term]
- Hypertrophic nerve changes [HPO term]
- Hyporeflexia [HPO term]
- Juvenile onset [HPO term]
- Kyphoscoliosis [HPO term]
- Motor delay [HPO term]
- Onion bulb formation [HPO term]
- Pes cavus [HPO term]
- Segmental demyelination/remyelination on nerve biopsy [HPO term]
- Segmental peripheral demyelination/remyelination [HPO term]
- Slowly progressive [HPO term]
- Upper limb postural tremor [HPO term]
ORDO concept(s)
- Roussy-Lévy syndrome [ORDO Disease]
See also inter- (CISMeF)
- Charcot Marie Tooth disease [Disease (Nov.)]
- hereditary motor sensory neuropathy [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary areflexic dystasia [MedDRA Preferred Term]
- Roussy-Levy syndrome [MedDRA LLT]
- Roussy-Levy syndrome [MeSH concept]
- Roussy-Lévy syndrome [ORDO Disease]
- Roussy-Lévy syndrome (disorder) [SNOMED CT concept]
- roussy-levy syndrome [SNOMED Notion]

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