skip navigation links
National Cancer Institute
Enterprise Vocabulary Services
Box
NCIm Version: 201808 (Browser Version 2.9, using LexEVS 6.5.1)
SearchBox Top
SearchBox Bottom
Refsum Disease (CUI C0034960) Suggest changes to this concept
Add to Cart

Terms & Properties

Concept Unique Identifier (CUI): C0034960

NCI Thesaurus Code: C85043  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

NCIt Definition: A rare autosomal recessive condition caused by mutation(s) in the PHYH gene, encoding phytanoyl-CoA dioxygenase, peroxisomal. It is characterized by abnormalities in the breakdown of phytanic acid and impaired growth of myelin sheaths. Signs and symptoms include neurologic damage, cerebellar degeneration, and neuropathy.

GARD Definition: Refsum disease is an inherited condition that causes vision loss, loss of smell (anosmia), and a variety of other signs and symptoms. The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa. Other features can include bone abnormalities of the hands and feet; progressive muscle weakness and wasting; poor balance and coordination (ataxia); hearing loss; arrhythmias and heart abnormalities; and dry, scaly skin (ichthyosis). Refsum disease can result from mutations in the PHYH gene or the PEX7 gene and is inherited in an autosomal recessive pattern. - this information is from GARD/ORDR/NCATS.

CSP Definition: autosomal recessive disorder of lipid metabolism in which deficiency of phytanic acid alpha-hydroxylase results in accumulation of phytanic acid; manifested chiefly by chronic polyneuritis, retinitis pigmentosa, cerebellar ataxia and elevation of protein in cerebrospinal fluid.

MSH Definition: 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.

Synonyms & Abbreviations: (see Synonym Details)
Adult Refsum Diseases
Adult Refsum Disease
Classic Refsum Diseases
Classic Refsum Disease
Disease, Adult Refsum
Disease, Classic Refsum
Disease, Refsum's
Disease, Refsum
Diseases, Adult Refsum
Diseases, Classic Refsum
Disorder of cornification 11 (phytanic acid type)
Doc 11 (phytanic acid type)
Hemeralopia Heredoataxia Polyneuritiformis
Herditary sensory and motor neuropathy type 4
Hereditary Motor And Sensory Neuropathy IV
Hereditary motor and sensory neuropathy type 4
Hereditary Motor and Sensory Neuropathy Type IV
Hereditary Motor and Sensory Neuropathy, Type IV
Hereditary sensory-motor neuropathy, type IV
Hereditary Type IV Motor and Sensory Neuropathy
HEREDITARY TYPE IV MOTOR SENSORY NEUROPATHY
Heredoataxia hemeralopica polyneuritiformis
Heredoataxia Polyneuritiformis, Hemeralopia
Heredoataxic atactica polyneuritiformis
Heredoataxic hemeralopica polyneuritiformis
heredopathia atactica polyneuritiformis
HMSN 4
HMSN IVs
HMSN IV
HMSN type IV
HMSN4
HSMN IV
Hypertrophic neuropathy of Refsum
NEUROPATHY HEREDITARY MOTOR SENSORY TYPE IV
Neuropathy, Hereditary Motor and Sensory, Type IV
NEUROPATHY, HYPERTROPHIC OF REFSUM
Phytanic acid oxidase deficiency
Phytanic acid storage disease (disorder)
PHYTANIC ACID STORAGE DISEASE
PHYTANIC ACID STORAGE DIS
Polyneuritiformis, Hemeralopia Heredoataxia
Polyneuritiformis, Heredopathia Atactica
Refsum Disease [Disease/Finding]
Refsum Disease, Adult
Refsum Disease, Classic
Refsum Diseases, Adult
Refsum Diseases, Classic
Refsum disease
REFSUM DIS
Refsum Syndrome
Refsum Thiebaut Syndrome
Refsum's disease
Refsum's Syndrome
Refsum-Thiebaut disease
Refsum-Thiebaut Syndromes
Refsum-Thiebaut Syndrome
Refsum-ThiƩbaut disease
Refsums Disease
REFSUMS DIS
Refsums Syndrome
Syndrome, Refsum's
Syndrome, Refsum-Thiebaut
Syndrome, Refsum
Syndromes, Refsum-Thiebaut

External Source Codes: 
NCI Thesaurus Code C85043 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN do not confuse with REFSUM DISEASE, INFANTILE MSH
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CASE_SIGNIFICANCE_ID 900000000000448009 SNOMEDCT_US
CHARACTERISTIC_TYPE_ID 900000000000011006 SNOMEDCT_US
Contributing_Source CTRP NCI
CTV3ID F363. SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DID 2042-7949 CSP
DISEASE_IDENTIFIER_ID 16844 GARD
DISEASE_IDENTIFIER_ID 16845 GARD
DISEASE_IDENTIFIER_ID 16846 GARD
DISEASE_IDENTIFIER_ID 16847 GARD
DISEASE_IDENTIFIER_ID 16848 GARD
DISEASE_IDENTIFIER_ID 16849 GARD
DISEASE_IDENTIFIER_ID 16850 GARD
DISEASE_IDENTIFIER_ID 33831 GARD
DX 19670101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
GENELOCUS ,1,0,p,t,e,r,-,p,1,1,.,2, OMIM
GENESYMBOL PAHX OMIM
GENESYMBOL PHYH OMIM
HAS_GARD_PAGE true GARD
HN 1996 (1964) MSH
IAN DEFAULT ICD10
ICE Heredopathia atactica polyneuritiformis ICD9CM
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
LAST_REVIEW_ACTION Related Disease Added GARD
LAST_REVIEW_DATE 2009-05-12T00:00:00 GARD
MDA 19990101 MSH
MESH_DEFINITION 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. NDFRT
MESH_DUI D012035 NDFRT
MESH_NAME Refsum Disease NDFRT
MESH_UI M0018709 NDFRT
MIMTYPE 3 OMIM
MIMTYPEMEANING Phenotype description, molecular basis known. OMIM
MIMTYPEVALUE pound OMIM
MMR 20160623 MSH
MN C10.228.140.163.100.813 MSH
MN C10.500.300.780 MSH
MN C10.574.500.495.780 MSH
MN C10.668.829.800.300.780 MSH
MN C16.131.666.300.780 MSH
MN C16.320.400.375.780 MSH
MN C16.320.565.189.813 MSH
MN C16.320.565.663.760 MSH
MN C18.452.132.100.813 MSH
MN C18.452.648.189.813 MSH
MN C18.452.648.663.760 MSH
MODIFIER_ID 900000000000451002 SNOMEDCT_US
MOVED_FROM 600964 OMIM
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000002588 NDFRT
ORDER_NO 06322 ICD10CM
PM 1996; see REFSUM'S SYNDROME 1991-1995, see REFSUM DISEASE 1964-1990 MSH
PRIMARY_PATH 10038275$10024579$10027424$10010331$Refsum's disease$Lysosomal storage disorders$Metabolic and nutritional disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 20.0 MDR
PT_IN_VERSION 20.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/5691/refsum-disease/resources/1 GARD
RXAUI 3168881 RXNORM
RXAUI 3171630 RXNORM
RXAUI 3172496 RXNORM
RXAUI 3172514 RXNORM
RXAUI 3206517 RXNORM
RXAUI 3220850 RXNORM
RXAUI 3231312 RXNORM
RXAUI 3231313 RXNORM
RXAUI 3231317 RXNORM
RXAUI 3231319 RXNORM
RXAUI 3231320 RXNORM
RXAUI 3287428 RXNORM
RXAUI 3287475 RXNORM
RXAUI 5039423 RXNORM
RXAUI 5039449 RXNORM
RXAUI 5039809 RXNORM
RXAUI 5039900 RXNORM
RXAUI 5039901 RXNORM
RXAUI 5930150 RXNORM
RXAUI 5930580 RXNORM
RXAUI 5931110 RXNORM
RXAUI 5932166 RXNORM
RXCUI 1023885 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 25362006 NDFRT
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS G60.1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~G60.1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS G60.1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF ATAXIA CO-OCCURRENT AND DUE TO PHYTANIC ACID STORAGE DISEASE CHOOSE R27.0 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447638001 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447639009 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 724769002 | Ataxia co-occurrent and due to phytanic acid storage disease | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~OTHERWISE TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~G60.1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~R27.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~ SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~F363. SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T000903213 MSH
TERMUI T035821 MSH
TERMUI T035822 MSH
TERMUI T035823 MSH
TERMUI T035824 MSH
TERMUI T035825 MSH
TERMUI T035826 MSH
TERMUI T035827 MSH
TERMUI T371733 MSH
TERMUI T371734 MSH
TERMUI T371735 MSH
TERMUI T654839 MSH
TERMUI T750854 MSH
TERMUI T811863 MSH
TERMUI T811865 MSH
TERMUI T811866 MSH
TERMUI T823276 MSH
TERMUI T842376 MSH
TERMUI T842377 MSH
TERMUI T842379 MSH
TERMUI T843608 MSH
TH GHR (2014) MSH
TH NLM (1964) MSH
TH NLM (1991) MSH
TH NLM (1996) MSH
TH NLM (2000) MSH
TH NLM (2007) MSH
TH NLM (2010) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TH UNK (19XX) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0034960

Mainbox Bottom