| Concept UI |
CON00041 (Tree)
|
| Name |
Mucopolysaccharidosis VI
|
| Aliases |
MPS VI, Maroteaux-Lamy syndrome
|
| Disease name: Preferred Term |
MUCOPOLYSACCHARIDOSIS TYPE VI
|
| Disease name: Synonyms (from OMIM and MeSH) |
MAROTEAUX-LAMY SYNDROME
ARSB DEFICIENCY
MPS6
N-ACETYLGALACTOSAMINE-4-SULFATASE DEFICIENCY
MPS VI
ARYLSULFATASE B DEFICIENCY
|
| UMLS CUI |
C0026709
|
| UMLS SAB |
MeSH
|
| UMLS CODE |
D009087
|
| OMIM DATA: Gene |
ARSB
|
| OMIM DATA: Gene Number |
611542
|
| OMIM DATA: Phenotype Number |
253200
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Airway Obstruction
- Blindness (Vision loss)
- Bone Diseases, Developmental
- Brain Diseases
- Cardiovascular Diseases
- Carpal Tunnel Syndrome
- Connective Tissue Diseases
- Contracture
- Corneal Diseases
- Corneal Opacity (Corneal clouding)
- Coronary Artery Disease
- Coronary Disease
- Craniofacial Abnormalities
- Demyelinating Diseases
- Dwarfism (Short stature disorder)
- Dysostoses (Dysostosis multiplex)
- Ear Diseases
- Hearing Disorders
- Hearing Loss (Hearing impairment)
- Heart Diseases
- Heart Failure (Cardiac Failure)
- Heart Valve Diseases
- Hepatomegaly
- Hereditary Central Nervous System Demyelinating Diseases
- Hernia, Abdominal
- Hernia, Inguinal
- Hernia, Umbilical
- Hernia, Ventral
- Hydrocephalus
- Intracranial Hypertension
- Joint Diseases
- Liver Diseases
- Lymphatic Diseases
- Macrocephaly
- Macroglossia
- Malformations of Cortical Development
- Maxillofacial Abnormalities
- Median Neuropathy
- Mobility Limitation
- Mucinoses
- Nerve Compression Syndromes
- Otitis
- Peripheral Vascular Diseases
- Respiratory Insufficiency
- Respiratory Tract Diseases
- Respiratory Tract Infections
- Signs and Symptoms
- Sleep Apnea Syndromes
- Sleep Apnea, Obstructive
- Spinal Cord Compression
- Spinal Cord Diseases
- Spinal Diseases
- Spinal Stenosis
- Splenic Diseases
- Stomatognathic System Abnormalities
- Tongue Diseases
- Vascular Diseases
- Vision Disorders
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References
|
- 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.
- Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583. Table 41.2 Defects in glycosaminoglycan degradation - the mucopolysaccharidoses.
- 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.
|
GDGDB (ID)
Link to the Glyco-Disease Genes Database |
93
113
|