Disease Information for Hunter's mucopolysaccharidosis syndrome

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Palpable Liver/Hepatomegaly
Mental Deficiency Child
Dysmorphic dwarfism/short stature
Macrocephaly/Large head
Splenomegaly
Coarsened facial features
Dysmorphic appearance/face
Short stature
Short stature Child
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Dwarfism
Family history/Skeletal malformations
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Male
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Chromosomal abnormality (Lab)
Abnormal Lab Findings - Increased
URINE Dermatan sulfate
URINE Heparan sulfate
URINE Mucopolysaccharides
Diagnostic Test Results
X-RAY
Xray/Dysostosis multiplex findings
Associated Diseases & Rule outs
Associated Disease & Complications
Arteriosclerotic heart disease
Blindness in Children
Congenital heart disease
Dysostosis multiplex
Hunter syndrome/MPS II
Mental retardation
Organomegaly
Skeletal dysplasia
Skeletal/bone malformations
Valvular heart disease
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Skeletal (category)
Pathophysiology
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Gene locus Xq28
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Lysosome storage disorder (ex)
Pathophysiology/Multisystem disease
Pathophysiology/Single gene locus indentified
Pathophysiology/Glucosamine 6-sulfatase defect
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Mucopolysaccharidoses (ex)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Sex-linked (X-linked) recessive inheritance (ex)
PROCESS/Storage disorder (ex)
PROCESS/Dystostosis/craniofacial (ex)
PROCESS/Vertebral anomalous congenital syndrome
Synonyms
Synonym
Deficiency of iduronate 2 sulfatase, Deficiency of iduronate 2 sulphatase, Gargoylism Hunter Syndrome, Gargoylisms Hunter Syndrome, Hunter disease, Hunter Fraser syndrome, Hunter McAlpine syndrome, Hunter syndrome, Hunter Syndrome Gargoylism, Hunter Syndrome Gargoylisms, Hunters Syndrome, Hunter's syndrome, Iduronate 2 sulfatase deficiency, Iduronate 2 sulphatase deficiency, iduronate sulfatase (IDS) deficiency, Iduronate sulfatase defic, iduronate sulfatase deficiency, Iduronate sulphatase defic, Iduronate sulphatase deficiency, IIs Mucopolysaccharidosis, MPS 2, MPS 2 Mucopolysaccharidosis 2, MPS II, MPS2 Mucopolysaccharidosis 2, MPSII Mucopolysaccharidosis type II, MPSII Mucopolysaccharidosis II, mucopolysaccharide storage disease II, mucopolysaccharidosis (MPS) II, Mucopolysaccharidosis 2, mucopolysaccharidosis II, Mucopolysaccharidosis IIs, Mucopolysaccharidosis MPS II, Mucopolysaccharidosis MPS II (disorder), Mucopolysaccharidosis type II, Mucopolysaccharidosis type II (MPS II), sulfo iduronate sulfatase (SIDS) deficiency, Sulfo iduronate sulfatase deficiency, Sulfoiduronidate sulfatase deficiency, Sulpho iduronate sulfatase deficiency, Sulpho iduronate sulphatase deficiency, Sulphoiduronate sulfatase def, Sulphoiduronate sulphatase def, Sulphoiduronidate sulphatase deficiency, syndrome Hunter, Syndrome Hunter's, type II mucopolysaccharidosis, X linked Hurler syndrome, Synonym/MPS II syndrome, Synonym/Type II mucopolysaccharidosis
Treatment
Drug Therapy - Indication
SX/Stem cell transplant/allogenic
SX/Stem-cell transplant
Definition
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External Links Related to Hunter's mucopolysaccharidosis syndrome
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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