- Concept UI
- M0018709
- Scope Note
- An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES.
- Terms
-
Refsum Disease
Preferred Term
Term UI
T035826
Date01/01/1999
LexicalTag
EPO
ThesaurusID
-
Hereditary Motor and Sensory Neuropathy Type IV
Term UI
T843608
Date05/03/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Refsum Disease, Adult
Term UI
T811865
Date11/15/2011
LexicalTag
NON
ThesaurusID
OMIM (2013)
-
Phytanic Acid Oxidase Deficiency
Term UI
T811866
Date11/15/2011
LexicalTag
NON
ThesaurusID
OMIM (2013)
-
HMSN IV
Term UI
T823276
Date06/11/2012
LexicalTag
NON
ThesaurusID
-
Hereditary Motor And Sensory Neuropathy IV
Term UI
T000903213
Date06/23/2016
LexicalTag
NON
ThesaurusID
OMIM (2013)
-
Hereditary Type IV Motor and Sensory Neuropathy
Term UI
T035821
Date06/07/1988
LexicalTag
NON
ThesaurusID
UNK (19XX)
-
Neuropathy, Hereditary Motor and Sensory, Type IV
Term UI
T035822
Date06/07/1988
LexicalTag
NON
ThesaurusID
UNK (19XX)
-
Heredopathia Atactica Polyneuritiformis
Term UI
T035823
Date03/30/1974
LexicalTag
NON
ThesaurusID
-
HMSN Type IV
Term UI
T035824
Date06/07/1988
LexicalTag
NON
ThesaurusID
-
Refsum's Disease
Term UI
T035825
Date08/16/1994
LexicalTag
EPO
ThesaurusID
-
Refsum's Syndrome
Term UI
T035827
Date01/12/1990
LexicalTag
EPO
ThesaurusID
NLM (1991)
-
Phytanic Acid Storage Disease
Term UI
T371733
Date11/10/1999
LexicalTag
NON
ThesaurusID
-
Hemeralopia Heredoataxia Polyneuritiformis
Term UI
T371734
Date11/10/1999
LexicalTag
NON
ThesaurusID
NLM (2000)
-
Refsum-Thiebaut Syndrome
Term UI
T371735
Date11/10/1999
LexicalTag
NON
ThesaurusID
NLM (2000)
-
Hereditary Motor and Sensory Neuropathy, Type IV
Term UI
T654839
Date10/07/2005
LexicalTag
NON
ThesaurusID
NLM (2007)
-
Adult Refsum Disease
Term UI
T842376
Date04/18/2013
LexicalTag
EPO
ThesaurusID
GHR (2014)
-
Classic Refsum Disease
Term UI
T842377
Date04/18/2013
LexicalTag
EPO
ThesaurusID
GHR (2014)
-
Refsum Syndrome
Term UI
T842379
Date04/18/2013
LexicalTag
EPO
ThesaurusID
GHR (2014)
-
HMSN 4
Term UI
T750854
Date05/11/2009
LexicalTag
ABB
ThesaurusID
-
Refsum Disease, Classic
Term UI
T811863
Date11/15/2011
LexicalTag
NON
ThesaurusID
OMIM (2013)