DiseaseID 26628
II型黏多糖贮积症
Mucopolysaccharidosis, Type Ii
NCI2016_02D:An X-linked, inherited lysosomal storage disease caused by the deficiency of the enzyme iduronate sulfatase that is responsible for the degradation of mucopolysaccharides. It nearly always affects males and i
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
Click a node to open it in a new tab
Disease: 1Symptom: 12Target: 18Links: 36
Arranging relationship network...
Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26628
- Core Entity Id
- 119196
- Source Entity Count
- 1
- Preferred Name
- Mucopolysaccharidosis, Type Ii
- Name Cn
- II型黏多糖贮积症
- Name Pinyin
- Ii Xing Nian Duo Tang Zhu Ji Zheng
- Name En
- Mucopolysaccharidosis, Type Ii
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- NCI2016_02D:An X-linked, inherited lysosomal storage disease caused by the deficiency of the enzyme iduronate sulfatase that is responsible for the degradation of mucopolysaccharides. It nearly always affects males and is characterized by the accumulation of mucopolysaccharides in various organs, resulting in mental dysfunction, enlarged abdomen, hearing loss, obstructive airway disease, heart disease, and hepatosplenomegaly.|MSH2017_2016_08_12: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.|JABL99:An inborn mucopolysaccharide metabolism disorder with iduronate-2-sulfatase deficiency. Clinical characteristics are similar to those in MPS I, except for the absence of corneal clouding and slower progression of the course of disease and central nervous system deterioration. Retinal degeneration may occur, but the cornea usually remains clear. Appearance is normal at birth with excessive growth taking place during first two years of life. Two types are recognized: A severe form (MPS IIA) which is characterized mainly by mental retardation and progressive physical deterioration and early death, and a mild form (MPS IIB) in which patients may survive into adulthood. MPS IIA usually occurs between 2 and 4 years of age with progressive deterioration, chronic diarrhea, recurrent ear infections, hearing impairment, communicating hydrocephalus with increased intracranial pressure, and death at about 10 and 15 years. Obstructive airway disease, cardiac valvular dysfunction, myocardial thickening, pulmonary hypertension, coronary disease, and myocardial infarction may be superimposed. MPS IIB is milder with preservation of intelligence. The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema. Death may occur in early adulthood, usually from airway obstruction or cardiac failure.|JABL99:A syndrome with variable manifestations exhibiting mainly microcephaly, characteristic facies, mental retardation, short stature, acral skeletal anomalies with occasional craniosynostosis and congenital heart defects.|CSP2006:lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase; this disease differs from muchopolysaccharidosis I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Mucopolysaccharidosis, Type Ii
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C0026705
Sym Map
SMDE04423
Etcm Disease
Mucopolysaccharidosis, Type Ii
Itcmdb Generated
ITX-DISEASE-08E0D0D6ECC8
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Mucopolysaccharidosis, Type Ii Details page
Basic Information
Disease Name
Mucopolysaccharidosis, Type Ii
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases;Liver diseases;Nephrological diseases;Neuronal diseases;Respiratory diseases;Skin diseases
Disease Definition
NCI2016_02D:An X-linked, inherited lysosomal storage disease caused by the deficiency of the enzyme iduronate sulfatase that is responsible for the degradation of mucopolysaccharides. It nearly always affects males and is characterized by the accumulation of mucopolysaccharides in various organs, resulting in mental dysfunction, enlarged abdomen, hearing loss, obstructive airway disease, heart disease, and hepatosplenomegaly.|MSH2017_2016_08_12: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.|JABL99:An inborn mucopolysaccharide metabolism disorder with iduronate-2-sulfatase deficiency. Clinical characteristics are similar to those in MPS I, except for the absence of corneal clouding and slower progression of the course of disease and central nervous system deterioration. Retinal degeneration may occur, but the cornea usually remains clear. Appearance is normal at birth with excessive growth taking place during first two years of life. Two types are recognized: A severe form (MPS IIA) which is characterized mainly by mental retardation and progressive physical deterioration and early death, and a mild form (MPS IIB) in which patients may survive into adulthood. MPS IIA usually occurs between 2 and 4 years of age with progressive deterioration, chronic diarrhea, recurrent ear infections, hearing impairment, communicating hydrocephalus with increased intracranial pressure, and death at about 10 and 15 years. Obstructive airway disease, cardiac valvular dysfunction, myocardial thickening, pulmonary hypertension, coronary disease, and myocardial infarction may be superimposed. MPS IIB is milder with preservation of intelligence. The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema. Death may occur in early adulthood, usually from airway obstruction or cardiac failure.|JABL99:A syndrome with variable manifestations exhibiting mainly microcephaly, characteristic facies, mental retardation, short stature, acral skeletal anomalies with occasional craniosynostosis and congenital heart defects.|CSP2006:lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase; this disease differs from muchopolysaccharidosis I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance.