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Descriptor English: Mucopolysaccharidosis II
Descriptor Spanish: Mucopolisacaridosis II
Descriptor mucopolisacaridosis II
Entry term(s) deficiencia de iduronato 2-sulfatasa
deficiencia de iduronato sulfatasa
deficiencia de sulfoiduronato sulfatasa
gargolismo del síndrome de Hunter
síndrome de Hunter
Scope note: Enfermedad sistémica de almacenamiento lisosómico caracterizada por deterioro físico progresivo y que se origina por deficiencia de la L-sulfoiduronato sulfatasa. Esta enfermedad difiere de la MUCOPOLISACARIDOSIS I porque posee una progresión más lenta, ausencia de nubosidad corneal, y herencia ligada al cromosoma X más que autosómica recesiva. En la forma leve hay una inteligencia casi normal y muchos años de vida. La forma grave suele producir la muerte aproximadamente a los 15 años de edad.
Descriptor Portuguese: Mucopolissacaridose II
Descriptor French: Mucopolysaccharidose de type II
Entry term(s): 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(s): 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
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D016532
Scope note: 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.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Mucopolysaccharidosis I (1966-1991)
Public MeSH Note: 1992; for MUCOPOLYSACCHARIDOSIS 2 and HUNTER'S SYNDROME see LIPOCHONDRODYSTROPHY 1976-1991
History Note: 1992; for MUCOPOLYSACCHARIDOSIS 2 and HUNTER'S SYNDROME use LIPOCHONDRODYSTROPHY 1976-1991
Entry Version: MPS II
Related: Iduronate Sulfatase MeSH
Mucopolysaccharidosis I MeSH
DeCS ID: 29956
Unique ID: D016532
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1992/01/01
Date of Entry: 1991/06/21
Revision Date: 2018/07/01
Mucopolysaccharidosis II - Preferred
Concept UI M0025232
Scope note 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.
Preferred term Mucopolysaccharidosis II
Entry term(s) Gargoylism, Hunter Syndrome
Hunter Syndrome
Hunter Syndrome Gargoylism
Hunter's Syndrome
Hunters Syndrome
Mucopolysaccharidosis 2
Mucopolysaccharidosis Type 2
Mucopolysaccharidosis Type II
Syndrome, Hunter
Syndrome, Hunter's
Sulfoiduronate Sulfatase Deficiency - Related but not broader or narrower
Concept UI M0536361
Preferred term Sulfoiduronate Sulfatase Deficiency
Entry term(s) Deficiency, I2S
Deficiency, Iduronate 2-Sulfatase
Deficiency, Iduronate Sulfatase
Deficiency, Sulfoiduronate Sulfatase
I2S Deficiency
Iduronate 2 Sulfatase Deficiency
Iduronate 2-Sulfatase Deficiency
Iduronate Sulfatase Deficiency



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