Refsum disease, classic

Preferred Label : Refsum disease, classic;

CISMeF acronym : HMSN4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Phytanic acid oxidase deficiency; Hereditary motor and sensory neuropathy iv; Refsum disease, adult, 1; Hmsn iv; Heredopathia atactica polyneuritiformis; HMSN4;

Description : Refsum disease is an autosomal recessive inborn error of lipid metabolism classically characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells. However, not all patients show all these features. All patients have accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. Other variable features include cardiac dysfunction, nerve deafness, ichthyosis, and multiple epiphyseal dysplasia (review by Skjeldal et al., 1987). Increased levels of phytanic acid can also be found in peroxisomal biogenesis disorders; see Zellweger syndrome (see 214100) (Skjeldal et al., 1987). Infantile Refsum disease (see PBD1B, 601539) is a distinct disorder with a different phenotype and genetic basis. A phenotype clinically indistinguishable from that of classic Refsum disease (PBD9B; 614879), but with a different biochemical profile, can be caused by mutation in the gene encoding peroxin-7 (PEX7; 601757) on chromosome 6q.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phytanoyl-CoA hydroxylase gene (PHYH, 602026.0001); Caused by mutation in the peroxisome biogenesis factor 7 gene (PEX7, 601757.0007);

Laboratory abnormalities : Increased phytanic acid in body tissues and fluids; Decreased phytanic acid oxidase activity;

Prefixed ID : #266500;

Details

Origin ID

266500;

UMLS CUI

C0034960;

Automatic exact mappings (from CISMeF team)
- refsum disease, adult, 1 [MeSH concept]
- refsum disease, adult, 1 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Phytanic acid storage disease [MedDRA LLT]
- Phytanic acid storage disease (disorder) [SNOMED CT concept]
- Refsum Disease [NCIt concept]
- Refsum disease [Disease (Nov.)]
- Refsum disease [DO Concept]
- Refsum disease [PASCAL descriptor]
- Refsum disease [ICD-11 More detail]
- Refsum disease [ORDO Disease]
- Refsum's disease [ICD-10 Sub-category]
- Refsum's disease [MedDRA Preferred Term]
- Refsum's disease [ICD-9 code]
- Refsums disease [ICD-10 Sub-category (who)]
- phytanic acid storage disease [SNOMED Notion]
- refsum disease [MeSH Descriptor]
- refsum disease [MeSH concept]
DO Cross reference
- Refsum disease [DO Concept]
Genes related to phenotype
- Phytanoyl-coa hydroxylase [OMIM gene]
HPO term(s)
- Abnormal renal physiology [HPO term]
- Abnormality of cardiac conduction [HPO term]
- Abnormality of renal physiology [HPO term]
- Anosmia [HPO term]
- Arrhythmia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomegaly [HPO term]
- Cardiomyopathy [HPO term]
- Cataract [HPO term]
- Congestive heart failure [HPO term]
- Deafness [HPO term]
- Elevated levels of phytanic acid [HPO term]
- Hyporeflexia [HPO term]
- Ichthyosis [HPO term]
- Ichthyosis [HPO term]
- Increased CSF protein [HPO term]
- Limb muscle weakness [HPO term]
- Miosis [HPO term]
- Multiple epiphyseal dysplasia [HPO term]
- Nyctalopia [HPO term]
- Nystagmus [HPO term]
- Pes cavus [HPO term]
- Ptosis [HPO term]
- Retinal degeneration [HPO term]
- Rod-cone dystrophy [HPO term]
- Sensorimotor neuropathy [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short fourth metatarsal [HPO term]
- Somatic sensory dysfunction [HPO term]
ORDO concept(s)
- Refsum disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Phytanic acid storage disease [MedDRA LLT]
- Phytanic acid storage disease (disorder) [SNOMED CT concept]
- Refsum Disease [NCIt concept]
- Refsum disease [ORDO Disease]
- Refsum disease [DO Concept]
- Refsum disease [PASCAL descriptor]
- Refsum disease [Disease (Nov.)]
- Refsum disease [ICD-11 More detail]
- Refsum's disease [ICD-9 code]
- Refsum's disease [MedDRA Preferred Term]
- Refsum's disease [ICD-10 Sub-category]
- Refsums disease [ICD-10 Sub-category (who)]
- phytanic acid storage disease [SNOMED Notion]
- refsum disease [MeSH Descriptor]
- refsum disease [MeSH concept]

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