REFSUM DISEASE, CLASSIC

General Information (adopted from Orphanet):

Synonyms, Signs: HEREDITARY MOTOR AND SENSORY NEUROPATHY IV
REFSUM DISEASE, ADULT, 1
HEREDOPATHIA ATACTICA POLYNEURITIFORMIS
HMSN IV
PHYTANIC ACID OXIDASE DEFICIENCY
HSMN4
Number of Symptoms 20
OrphanetNr:
OMIM Id: 266500
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000458) Anosmia 49 / 7739
2
 (HPO:0003474) Sensory impairment 54 / 7739
3
 (HPO:0001265) Hyporeflexia 208 / 7739
4
 (HPO:0007141) Sensorimotor neuropathy 27 / 7739
5
 (HPO:0002654) Multiple epiphyseal dysplasia 8 / 7739
6
 (HPO:0001761) Pes cavus 225 / 7739
7
 (HPO:0008064) Ichthyosis 108 / 7739
8
 (HPO:0001640) Cardiomegaly 81 / 7739
9
 (HPO:0001635) Congestive heart failure 232 / 7739
10
 (HPO:0001638) Cardiomyopathy 192 / 7739
11
 (HPO:0003690) Limb muscle weakness 41 / 7739
12
 (OMIM) Limb atrophy 1 / 7739
13
 (OMIM) Decreased phytanic acid oxidase activity 1 / 7739
14
 (OMIM) Increased CSF protein with normal cell count 1 / 7739
15
 (OMIM) Shortening of the metatarsals 1 / 7739
16
 (OMIM) Nerve hypertrophy 2 / 7739
17
 (OMIM) Sensorineural deafness, progressive 1 / 7739
18
 (OMIM) Electrocardiographic abnormalities 1 / 7739
19
 (OMIM) Increased phytanic acid in body tissues and fluids 1 / 7739
20
 (OMIM) Shortening of the metacarpals 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Refsum (1946) first described this disorder and noted the hereditary aspect.

Skjeldal et al. (1987) reported the clinical features of 17 patients with Refsum disease. Although onset of symptoms was reportedly insidious, they generally were reported ...
Molecular genetics OMIM Mihalik et al. (1997) found that both Refsum disease patients examined were homozygous for inactivating mutations in the PHYH gene (602026.0001 and 602026.0002).

Independently, Jansen et al. (1997) identified mutations in the PHYH gene in 5 ...