This rare neurologic disease is a slowly progressive disorder resembling Refsum disease. It presents with peripheral neuropathy, late-onset hearing loss, cataracts, and retinitis pigmentosa typically appearing in the third decade of life. Clinical features include pes cavus, ataxic or spastic gait disturbances, sensorimotor peripheral neuropathy, hyporeflexia, hyperreflexia, and extensor plantar responses. The syndrome is known as Fiskerstrand type peripheral neuropathy and is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa, and early-onset cataracts.
Phenotype Information Associated with the Current Disease:
Categorization: Anatomical classification of the disease manifestations.
HPO Frequency/Orphanet Frequency: Indicates the probability of the manifestation occurring in the current disease, allowing sorting by probability.
HPO Source Accession: Links to HPO for detailed manifestation information.
Data Source: HPO, Orphanet
Gene & Mutation
Genes and Mutations Associated with the Current Disease:
Function: Primary biological roles of the genes.
Score: Indicates the strength of the association between the disease and the gene, with higher scores reflecting stronger associations.
Count: Number of mutations associated with the disease-gene pair. The number in parentheses represents the total data points linked to the same ClinVar ID. Clicking the number reveals mutation details.
Data Source: Clinvar
Related Drugs
Drugs Related to the Current Gene, Displaying CAS Number, Status and Phase.
Data Source: Clinical Trials
Related Mouse Models
Mouse Models Related to the Current Gene. Click on the model name to view detailed information.
Data Source: MGI, Cyagen
References Literature
Most Relevant Literature for the Current Gene, Filterable by Year, Article Type, and Sortable by Impact Factor.