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Descriptor English: Mucopolysaccharidosis III
Descriptor Spanish: Mucopolisacaridosis III
Descriptor mucopolisacaridosis III
Entry term(s) oligofrenia polidistrófica
síndrome de Sanfilippo
Scope note: Mucopolisacaridosis que se caracteriza por la presencia de heparitin sulfato en la orina, retraso mental progresivo, enanismo leve, y otros trastornos esqueléticos. Hay cuatro formas clínicamente indistinguibles pero diferentes bioquímicamente, cada una producida por déficit de una enzima diferente.
Descriptor Portuguese: Mucopolissacaridose III
Descriptor French: Mucopolysaccharidose de type III
Entry term(s): Acetyl CoA:alpha Glucosaminide N Acetyltransferase Deficiency
Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiencies
Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiency
Deficiencies, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase
Deficiencies, N-Acetyl-alpha-D-Glucosaminidase
Deficiencies, N-Acetylglucosamine-6-Sulfatase
Deficiencies, N-Acetylglucosamine-6-Sulfate Sulfatase
Deficiencies, NAGLU
Deficiencies, Sulfamidase
Deficiency, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase
Deficiency, N-Acetyl-alpha-D-Glucosaminidase
Deficiency, N-Acetylglucosamine-6-Sulfatase
Deficiency, N-Acetylglucosamine-6-Sulfate Sulfatase
Deficiency, NAGLU
Deficiency, Sulfamidase
Heparan Sulfate Sulfatase Deficiency
MPS 3 A
MPS 3 B
MPS 3 C
MPS 3 D
MPS III A
MPS III B
MPS III C
MPS III D
MPS IIIA
MPS IIIB
MPS IIIC
MPS IIID
MPS IIIDs
MPS3A
MPS3B
MPS3C
Mucopolysaccharidosis 3
Mucopolysaccharidosis IIIs
Mucopolysaccharidosis Type 3 A
Mucopolysaccharidosis Type 3 A Sanfilippo Syndrome
Mucopolysaccharidosis Type 3 B
Mucopolysaccharidosis Type 3 C
Mucopolysaccharidosis Type 3 D
Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIAs
Mucopolysaccharidosis Type IIIB
Mucopolysaccharidosis Type IIIBs
Mucopolysaccharidosis Type IIIC
Mucopolysaccharidosis Type IIICs
Mucopolysaccharidosis Type IIID
Mucopolysaccharidosis Type IIIDs
N Acetyl alpha D Glucosaminidase Deficiency
N Acetylglucosamine 6 Sulfatase Deficiency
N Acetylglucosamine 6 Sulfate Sulfatase Deficiency
N-Acetyl-alpha-D-Glucosaminidase Deficiencies
N-Acetyl-alpha-D-Glucosaminidase Deficiency
N-Acetylglucosamine-6-Sulfatase Deficiencies
N-Acetylglucosamine-6-Sulfatase Deficiency
N-Acetylglucosamine-6-Sulfate Sulfatase Deficiencies
N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency
N-Acetyltransferase Deficiencies, Acetyl-CoA:alpha-Glucosaminide
N-Acetyltransferase Deficiency, Acetyl-CoA:alpha-Glucosaminide
NAGLU Deficiencies
NAGLU Deficiency
Oligophrenia, Polydystrophic
Oligophrenias, Polydystrophic
Polydystrophic Oligophrenia
Polydystrophic Oligophrenias
San Filippo Syndrome
San Filippo's Syndrome
San Filippos Syndrome
Sanfilippo Syndrome
Sanfilippo Syndrome A
Sanfilippo Syndrome B
Sanfilippo Syndrome C
Sanfilippo Syndrome D
Sanfilippo Syndromes
Sanfilippo's Syndrome
Sanfilippos Syndrome
Sulfamidase Deficiencies
Sulfamidase Deficiency
Sulfatase Deficiencies, N-Acetylglucosamine-6-Sulfate
Sulfatase Deficiency, N-Acetylglucosamine-6-Sulfate
Syndrome, San Filippo's
Syndrome, Sanfilippo
Syndrome, Sanfilippo's
Syndromes, Sanfilippo
Tree number(s): C16.320.565.202.715.650
C16.320.565.595.600.650
C17.300.550.575.650
C18.452.648.202.715.650
C18.452.648.595.600.650
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D009084
Scope note: Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme.
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: Carbohydrate Metabolism, Inborn Errors (1966-1976)
Mental Retardation (1966-1976)
Mucopolysaccharides/metabolism (1966-1974)
Mucopolysaccharidosis (1974)
Public MeSH Note: 92; was MUCOPOLYSACCHARIDOSIS 3 1991; was see under MUCOPOLYSACCHARIDOSIS 1975-90
Online Note: use MUCOPOLYSACCHARIDOSIS III to search MUCOPOLYSACCHARIDOSIS 3 1975-91
History Note: 92; was MUCOPOLYSACCHARIDOSIS 3 1991; was see under MUCOPOLYSACCHARIDOSIS 1975-90
Entry Version: MPS III
DeCS ID: 30389
Unique ID: D009084
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1991/01/01
Date of Entry: 1974/12/12
Revision Date: 2016/06/28
Mucopolysaccharidosis III - Preferred
Concept UI M0014168
Scope note Mucopolysaccharidosis characterized by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme.
Preferred term Mucopolysaccharidosis III
Entry term(s) Mucopolysaccharidosis 3
Mucopolysaccharidosis IIIs
Oligophrenia, Polydystrophic
Oligophrenias, Polydystrophic
Polydystrophic Oligophrenia
Polydystrophic Oligophrenias
San Filippo Syndrome
San Filippo's Syndrome
San Filippos Syndrome
Sanfilippo Syndrome
Sanfilippo Syndromes
Sanfilippo's Syndrome
Sanfilippos Syndrome
Syndrome, San Filippo's
Syndrome, Sanfilippo
Syndrome, Sanfilippo's
Syndromes, Sanfilippo
MPS III D - Narrower
Concept UI M0014172
Preferred term MPS III D
Entry term(s) Deficiencies, N-Acetylglucosamine-6-Sulfatase
Deficiencies, N-Acetylglucosamine-6-Sulfate Sulfatase
Deficiency, N-Acetylglucosamine-6-Sulfatase
Deficiency, N-Acetylglucosamine-6-Sulfate Sulfatase
MPS 3 D
MPS IIID
MPS IIIDs
Mucopolysaccharidosis Type 3 D
Mucopolysaccharidosis Type IIID
Mucopolysaccharidosis Type IIIDs
N Acetylglucosamine 6 Sulfatase Deficiency
N Acetylglucosamine 6 Sulfate Sulfatase Deficiency
N-Acetylglucosamine-6-Sulfatase Deficiencies
N-Acetylglucosamine-6-Sulfatase Deficiency
N-Acetylglucosamine-6-Sulfate Sulfatase Deficiencies
N-Acetylglucosamine-6-Sulfate Sulfatase Deficiency
Sanfilippo Syndrome D
Sulfatase Deficiencies, N-Acetylglucosamine-6-Sulfate
Sulfatase Deficiency, N-Acetylglucosamine-6-Sulfate
MPS III C - Narrower
Concept UI M0014171
Preferred term MPS III C
Entry term(s) Acetyl CoA:alpha Glucosaminide N Acetyltransferase Deficiency
Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiencies
Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase Deficiency
Deficiencies, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase
Deficiency, Acetyl-CoA:alpha-Glucosaminide N-Acetyltransferase
MPS 3 C
MPS IIIC
MPS3C
Mucopolysaccharidosis Type 3 C
Mucopolysaccharidosis Type IIIC
Mucopolysaccharidosis Type IIICs
N-Acetyltransferase Deficiencies, Acetyl-CoA:alpha-Glucosaminide
N-Acetyltransferase Deficiency, Acetyl-CoA:alpha-Glucosaminide
Sanfilippo Syndrome C
MPS III A - Narrower
Concept UI M0014169
Preferred term MPS III A
Entry term(s) Deficiencies, Sulfamidase
Deficiency, Sulfamidase
Heparan Sulfate Sulfatase Deficiency
MPS 3 A
MPS IIIA
MPS3A
Mucopolysaccharidosis Type 3 A
Mucopolysaccharidosis Type 3 A Sanfilippo Syndrome
Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIAs
Sanfilippo Syndrome A
Sulfamidase Deficiencies
Sulfamidase Deficiency
MPS III B - Narrower
Concept UI M0014170
Preferred term MPS III B
Entry term(s) Deficiencies, N-Acetyl-alpha-D-Glucosaminidase
Deficiencies, NAGLU
Deficiency, N-Acetyl-alpha-D-Glucosaminidase
Deficiency, NAGLU
MPS 3 B
MPS IIIB
MPS3B
Mucopolysaccharidosis Type 3 B
Mucopolysaccharidosis Type IIIB
Mucopolysaccharidosis Type IIIBs
N Acetyl alpha D Glucosaminidase Deficiency
N-Acetyl-alpha-D-Glucosaminidase Deficiencies
N-Acetyl-alpha-D-Glucosaminidase Deficiency
NAGLU Deficiencies
NAGLU Deficiency
Sanfilippo Syndrome B



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