Mucopolysaccharidosis type 2, attenuated form

Orpha code: 217093OMIM code: 309900

Definition

Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.

Disease data
Classification

Clinical subtype

Synonyms
Hunter syndrome type B
MPS2B
MPSIIB
Mukopolisacharydoza typu 2B
Mukopolisacharydoza typu II, postać poronna
Mukopolisacharydoza typu IIB
Niedobór 2-sulfatazy iduronianu typu B
Zespół Huntera typu B
Iduronate 2-sulfatase deficiency type B
MPS2B
MPSIIB
Mucopolysaccharidosis type 2B
Mucopolysaccharidosis type II, attenuated form
Mucopolysaccharidosis type IIB
ORPHA code
217093
OMIM code
309900
ICD10 code
E76.1
ICD11 code
5C56.31

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl