Refsum Disease malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Skin diseases, Metabolic diseases
50OMIM, 11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 47NINDS, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 25GTR, 28ICD10, 30ICD9CM, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Refsum Disease:
Orphanet epidemiological data:52
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Adolescent,Adult,Childhood,Infancy
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Eye diseases, Skin diseases
ICD10: 29 28
Rare neurological diseases
Rare eye diseases
Rare skin diseases
Inborn errors of metabolism
OMIM:50 Refsum disease is an autosomal recessive inborn error of lipid metabolism classically characterized by a tetrad of... (266500) more...
MalaCards based summary: Refsum Disease, also known as heredopathia atactica polyneuritiformis, is related to refsum disease, infantile form and peroxisome biogenesis disorder 1b, and has symptoms including sensorineural hearing impairment, retinopathy and cataract. An important gene associated with Refsum Disease is PHYH (Phytanoyl-CoA 2-Hydroxylase). Affiliated tissues include eye, heart and skin, and related mouse phenotypes are pigmentation and cardiovascular system.
Genetics Home Reference:24 Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms.
NIH Rare Diseases:46 Refsum disease is an inherited condition that causes vision loss, loss of smell (anosmia), and a variety of other signs and symptoms. the vision loss associated with refsum disease is caused by an eye disorder called retinitis pigmentosa. other features can include bone abnormalities of the hands and feet; progressive muscle weakness and wasting; poor balance and coordination (ataxia); hearing loss; arrhythmias and heart abnormalities; and dry, scaly skin (ichthyosis). refsum disease can result from mutations in the phyh gene or the pex7 gene and is inherited in an autosomal recessive pattern. last updated: 11/9/2011
NINDS:47 Adult Refsum disease (ARD) is a rare genetic disease that causes weakness or numbness of the hands and feet (peripheral neuropathy).
UniProtKB/Swiss-Prot:68 Refsum disease: A rare autosomal recessive peroxisomal disorder characterized by the accumulation of the branched-chain fatty acid, phytanic acid, in blood and tissues. Cardinal clinical features are retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF). Half of all patients exhibit generalized, mild to moderate ichthyosis resembling ichthyosis vulgaris. Less constant features are nerve deafness, anosmia, skeletal abnormalities, cataracts and cardiac impairment.
Wikipedia:69 Refsum disease, also known as classic or adult Refsum disease, heredopathia atactica polyneuritiformis,... more...
GeneReviews summary for NBK1353
Symptoms by clinical synopsis from OMIM:266500
Clinical features from OMIM:266500
Symptoms:52 (show all 38)
HPO human phenotypes related to Refsum Disease:(show all 57)
UMLS symptoms related to Refsum Disease:anosmia, pigmented retinopathy nos
Drugs for Refsum Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Search NIH Clinical Center for Refsum Disease
MalaCards organs/tissues related to Refsum Disease:34
Eye, Heart, Skin, Bone, Liver, Skeletal muscle, Brain
MGI Mouse Phenotypes related to Refsum Disease:39
Articles related to Refsum Disease:(show top 50) (show all 75)
UniProtKB/Swiss-Prot genetic disease variations for Refsum Disease:68 (show all 15)
Clinvar genetic disease variations for Refsum Disease:5 (show all 52)
Search GEO for disease gene expression data for Refsum Disease.
Cellular components related to Refsum Disease according to GeneCards Suite gene sharing:
Biological processes related to Refsum Disease according to GeneCards Suite gene sharing:(show all 12)
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet