Search on: REFSUM DISEASE 
Descriptors Found: 1
Displaying: 1 .. 1  

 1 / 1 DeCS     
Descriptor English:   Refsum Disease 
Descriptor Spanish:   Enfermedad de Refsum 
Descriptor Portuguese:   Doença de Refsum 
Synonyms English:   Adult Refsum Disease
Classic Refsum Disease
HMSN 4
HMSN IV
Hemeralopia Heredoataxia Polyneuritiformis
Hereditary Motor And Sensory Neuropathy IV
Hereditary Motor and Sensory Neuropathy Type IV
Hereditary Motor and Sensory Neuropathy, Type IV
Hereditary Type IV Motor and Sensory Neuropathy
Phytanic Acid Oxidase Deficiency
Refsum Disease, Adult
Refsum Disease, Classic
Refsum Disease, Phytanic Acid Oxidase Deficiency
Refsum Disease, Phytanoyl-CoA Hydroxylase Deficiency
Refsum Syndrome
Refsum's Disease
Refsum's Syndrome
Refsum-Thiebaut Syndrome
Adult Refsum Diseases
Classic Refsum Diseases
Disease, Adult Refsum
Disease, Classic Refsum
Disease, Refsum
Disease, Refsum's
Diseases, Adult Refsum
Diseases, Classic Refsum
HMSN IVs
Heredoataxia Polyneuritiformis, Hemeralopia
Polyneuritiformis, Hemeralopia Heredoataxia
Polyneuritiformis, Heredopathia Atactica
Refsum Disease, Phytanoyl CoA Hydroxylase Deficiency
Refsum Diseases, Adult
Refsum Diseases, Classic
Refsum Thiebaut Syndrome
Refsum-Thiebaut Syndromes
Refsums Disease
Refsums Syndrome
Syndrome, Refsum
Syndrome, Refsum's
Syndrome, Refsum-Thiebaut
Syndromes, Refsum-Thiebaut
Heredopathia Atactica Polyneuritiformis
HMSN Type IV
Neuropathy, Hereditary Motor and Sensory, Type IV
Phytanic Acid Storage Disease  
Tree Number:   C10.228.140.163.100.813
C10.500.300.780
C10.574.500.495.780
C10.668.829.800.300.780
C16.131.666.300.780
C16.320.400.375.780
C16.320.565.189.813
C16.320.565.663.760
C18.452.132.100.813
C18.452.648.189.813
C18.452.648.663.760
Definition English:   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. 
Indexing Annotation English:   do not confuse with REFSUM DISEASE, INFANTILE
History Note English:   1996 (1964) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   29306 
Unique Identifier:   D012035 

Occurrence in VHL:
 
LILACS    
MEDLINE    
IBECS    

Similar:

 
DeCS CID-10 LILACS