Refsum disease
Information
- Disease name
- Refsum disease
- Disease ID
- DOID:10582
- Description
- "A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues." [url:https\://en.wikipedia.org/wiki/Refsum_disease, url:https\://medlineplus.gov/genetics/condition/refsum-disease/, url:https\://pubmed.ncbi.nlm.nih.gov/30578512/, url:https\://rarediseases.org/rare-diseases/refsum-disease/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT02699190 | Active, not recruiting | LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies | January 6, 2017 | December 2024 | |
| NCT01793168 | Recruiting | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford | July 2010 | December 2100 | |
| NCT03047369 | Recruiting | The Myelin Disorders Biorepository Project | December 8, 2016 | December 8, 2030 |
- Disase is a (Disease Ontology)
- DOID:3146
- Cross Reference ID (Disease Ontology)
- GARD:5691
- Cross Reference ID (Disease Ontology)
- ICD10CM:G60.1
- Cross Reference ID (Disease Ontology)
- ICD9CM:356.3
- Cross Reference ID (Disease Ontology)
- MESH:D012035
- Cross Reference ID (Disease Ontology)
- MIM:266500
- Cross Reference ID (Disease Ontology)
- NCI:C85043
- Cross Reference ID (Disease Ontology)
- ORDO:773
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:25362006
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0034960
- Exact Synonym (Disease Ontology)
- adult Refsum disease
- Exact Synonym (Disease Ontology)
- classic Refsum disease
- Exact Synonym (Disease Ontology)
- Heredopathia atactica polyneuritiformis
- Exact Synonym (Disease Ontology)
- HMSN type IV
- Exact Synonym (Disease Ontology)
- HSMN IV
- Exact Synonym (Disease Ontology)
- phytanic acid oxidase deficiency
- Exact Synonym (Disease Ontology)
- Refsum's disease
- OrphaNumber from OrphaNet (Orphanet)
- 773
- ICD10 preferred id (Insert disease from ICD10)
- D0005480
- ICD10 class code (Insert disease from ICD10)
- G60.1
- MeSH unique ID (MeSH (Medical Subject Headings))
- D012035