Search on: MUCOPOLYSACCHARIDOSIS I 
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Descriptor English:   Mucopolysaccharidosis I 
Descriptor Spanish:   Mucopolisacaridosis I 
Descriptor Portuguese:   Mucopolissacaridose I 
Synonyms English:   Disease, Hurler's
Gargoylism
Gargoylism, Hurler Syndrome
Gargoylisms
Hurler Disease
Hurler Scheie Syndrome
Hurler Syndrome
Hurler Syndrome Gargoylism
Hurler's Disease
Hurler's Syndrome
Hurler-Scheie Syndrome
Lipochondrodystrophies
Lipochondrodystrophy
Mucopolysaccharidosis 1
Mucopolysaccharidosis 5
Mucopolysaccharidosis I S
Mucopolysaccharidosis I-S
Mucopolysaccharidosis Is
Mucopolysaccharidosis Type I
Mucopolysaccharidosis Type Ih
Mucopolysaccharidosis Type Ih S
Mucopolysaccharidosis Type Ihs
Mucopolysaccharidosis Type Is
Mucopolysaccharidosis V
Pfaundler-Hurler Syndrome
Scheie Syndrome
Scheie's Syndrome
Syndrome, Hurler's
Syndrome, Scheie's
Type Ih, Mucopolysaccharidosis
Type Ihs, Mucopolysaccharidosis
alpha L Iduronidase Deficiency
alpha-L-Iduronidase Deficiencies
alpha-L-Iduronidase Deficiency  
Tree Number:   C16.320.565.202.715.640
C16.320.565.595.600.640
C17.300.550.575.640
C18.452.648.202.715.640
C18.452.648.595.600.640
Definition English:   Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing. 
See Related English:   Iduronidase
Mucopolysaccharidosis II
 
History Note English:   1992; use LIPOCHONDRODYSTROPHY 1966-1991; MUCOPOLYSACCHARIDOSIS 5 was heading 1991, use MUCOPOLYSACCHARIDOSIS 1975-1990; for MUCOPOLYSACCHARIDOSIS 1 use LIPOCHONDRODYSTROPHY 1976-1991; for HURLER'S DISEASE use LIPOCHONDRODYSTROPHY 1975-1991; for SCHEIE'S SYNDROME use MUCOPOLYSACCHARIDOSIS 5 1975-1991; 
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:   30379 
Unique Identifier:   D008059 

Occurrence in VHL:
 
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MEDLINE    
MedCarib    
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