|
|
|
|
|
| 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-Thiébaut 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:
| 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
