| Concept UI |
CON00032 (Tree)
|
| Name |
Mucopolysaccharidosis II
|
| Aliases |
Hunter syndrome
MPS II
|
| Disease name: Preferred Term |
MUCOPOLYSACCHARIDOSIS TYPE II
|
| Disease name: Synonyms (from OMIM and MeSH) |
MPS II
SIDS DEFICIENCY
IDS DEFICIENCY
SULFOIDURONATE SULFATASE DEFICIENCY
IDURONATE 2-SULFATASE DEFICIENCY
HUNTER SYNDROME
MPS2
|
| UMLS CUI |
C0026705
|
| UMLS SAB |
MeSH
|
| UMLS CODE |
D016532
|
| OMIM DATA: Gene |
IDS
|
| OMIM DATA: Gene Number |
300823
|
| OMIM DATA: Phenotype Number |
309900
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Airway Obstruction
- Bone Diseases, Developmental
- Brain Diseases
- Cardiomegaly
- Cardiovascular Abnormalities
- Cardiovascular Diseases
- Carpal Tunnel Syndrome
- Connective Tissue Diseases
- Contracture
- Coronary Artery Disease
- Coronary Disease
- Craniofacial Abnormalities
- Demyelinating Diseases
- Developmental Disabilities
- Dwarfism (Short stature disorder)
- Dysostoses (Dysostosis multiplex)
- Ear Diseases
- Hearing Disorders
- Hearing Loss (Hearing impairment)
- Heart Defects, Congenital
- Heart Diseases
- Heart Failure (Cardiac Failure)
- Heart Valve Diseases
- Hepatomegaly
- Hereditary Central Nervous System Demyelinating Diseases
- Hernia, Abdominal
- Hernia, Inguinal
- Hernia, Umbilical
- Hernia, Ventral
- Hoarseness
- Hydrocephalus
- Intracranial Hypertension
- Joint Diseases
- Liver Diseases
- Lymphatic Diseases
- Macrocephaly
- Macroglossia
- Malformations of Cortical Development
- Median Neuropathy
- Mental Disorders Diagnosed in Childhood
- Mobility Limitation
- Mucinoses
- Nerve Compression Syndromes
- Otitis
- Peripheral Vascular Diseases
- Respiration Disorders
- Respiratory Insufficiency
- Respiratory Tract Diseases
- Respiratory Tract Infections
- Retinal Degeneration
- Retinal Diseases
- Signs and Symptoms
- Sleep Apnea Syndromes
- Sleep Apnea, Obstructive
- Spinal Cord Compression
- Spinal Cord Diseases
- Spinal Diseases
- Spinal Stenosis
- Splenic Diseases
- Tongue Diseases
- Vascular Diseases
- Vision Disorders
- Vision, Low
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|
References
|
- Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583.
- Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.2 Defects in glycosaminoglycan degradation - the mucopolysaccharidoses.
- Braunlin EA, Harmatz PR, Scarpa M, Furlanetto B, Kampmann C, Loehr JP, Ponder KP, Roberts WC, Rosenfeld HM, Giugliani R (2011) Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis 34(6):1183-1197.
- Renaud DL (2012) Lysosomal disorders associated with leukoencephalopathy. Semin Neurol 32(1):51-54.
|
GDGDB (ID)
Link to the Glyco-Disease Genes Database |
85
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