adult Refsum disease
A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.
MONDO:0017265
autosomal recessive congenital ichthyosis
excluded_subClassOf
MONDO:0017272
obsolete autosomal ichthyosis syndrome with prominent neurologics signs (obsolete MONDO:0017272)
excluded_subClassOf
MONDO:0017753
obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation (obsolete MONDO:0017753)
excluded_subClassOf
MONDO:0019046
leukodystrophy
excluded_subClassOf
MONDO:0020044
autosomal recessive metabolic cerebellar ataxia
excluded_subClassOf
MONDO:0020127
hereditary peripheral neuropathy
excluded_subClassOf
MONDO:0020228
obsolete cataract associated with a metabolic disease (obsolete MONDO:0020228)
excluded_subClassOf
MONDO:0020281
obsolete metabolic disease with pigmentary retinitis (obsolete MONDO:0020281)
excluded_subClassOf
MONDO:0100258
phytanoyl-CoA hydroxylase deficiency
is_a
DOC 11 (phytanic acid type)
related
HMSN 4
exact
HMSN type IV
exact
HSMN IV
exact
RDPA
related
Refsum Disease
exact
Refsum disease
exact
Refsum disease with increased pipecolic acidemia
related
Refsum disease, adult, 1
exact
Refsum disease, classic
exact
Refsum's disease
exact
adult Refsum disease
exact
adult Refsum disease due to PHYH
exact
classic Refsum disease
exact
disorder of cornification 11 (phytanic acid type)
related
hereditary motor and sensory neuropathy 4
exact
hereditary motor and sensory neuropathy type 4
exact
hereditary sensory and motor neuropathy type 4
exact
heredopathia atactica polyneuritiformis
exact
hypertrophic neuropathy of Refsum
exact
phytanic acid oxidase deficiency
exact
phytanic-CoA hydroxylase deficiency
exact
SPAC17D4.01