Search on: IDURONATE 2-SULFATASE DEFICIENCY 
Descriptors Found: 1
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Descriptor English:   Mucopolysaccharidosis II 
Descriptor Spanish:   Mucopolisacaridosis II 
Descriptor Portuguese:   Mucopolissacaridose II 
Synonyms English:   Deficiency, I2S
Deficiency, Iduronate 2-Sulfatase
Deficiency, Iduronate Sulfatase
Deficiency, Sulfoiduronate Sulfatase
Gargoylism, Hunter Syndrome
Hunter Syndrome
Hunter Syndrome Gargoylism
Hunter's Syndrome
Hunters Syndrome
I2S Deficiency
Iduronate 2 Sulfatase Deficiency
Iduronate 2-Sulfatase Deficiency
Iduronate Sulfatase Deficiency
Mucopolysaccharidosis 2
Mucopolysaccharidosis Type 2
Mucopolysaccharidosis Type II
Sulfoiduronate Sulfatase Deficiency
Syndrome, Hunter
Syndrome, Hunter's  
Tree Number:   C10.597.606.360.455.750
C16.320.322.500.750
C16.320.400.525.750
C16.320.565.202.715.645
C16.320.565.595.600.645
C17.300.550.575.645
C18.452.648.202.715.645
C18.452.648.595.600.645
Definition English:   Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15. 
See Related English:   Iduronate Sulfatase
Mucopolysaccharidosis I
 
History Note English:   1992; for MUCOPOLYSACCHARIDOSIS 2 and HUNTER'S SYNDROME use LIPOCHONDRODYSTROPHY 1976-1991 
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:   29956 
Unique Identifier:   D016532 

Occurrence in VHL:
 

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