| Concept UI |
CON00031 (Tree)
|
| Name |
Scheie syndrome
|
| Aliases |
Mucopolysaccharidosis type IS
Scheie's syndrome
MPS1-S
Mucopolysaccharidosis type V
|
| Disease name: Preferred Term |
SCHEIE SYNDROME
|
| Disease name: Synonyms (from OMIM and MeSH) |
MPS1-S
MUCOPOLYSACCHARIDOSIS TYPE IS
Scheie's syndrome
MPS5, FORMERLY
MPS V, FORMERLY
MUCOPOLYSACCHARIDOSIS TYPE V, FORMERLY
|
| UMLS CUI |
C0026708
|
| UMLS SAB |
MeSH
|
| UMLS CODE |
D008059
|
| OMIM DATA: Gene |
IDUA
|
| OMIM DATA: Gene Number |
252800
|
| OMIM DATA: Phenotype Number |
607016
|
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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
- Constipation
- Contracture
- Corneal Diseases
- Corneal Opacity (Corneal clouding)
- Coronary Artery Disease
- Coronary Disease
- Craniofacial Abnormalities
- Diarrhea
- Dwarfism (Short stature disorder)
- Dysostoses (Dysostosis multiplex)
- Ear Diseases
- Glaucoma
- Hearing Disorders
- Hearing Loss (Hearing impairment)
- Heart Diseases
- Heart Valve Diseases
- Hepatomegaly
- Hernia, Abdominal
- Hernia, Inguinal
- Hernia, Umbilical
- Hernia, Ventral
- Hoarseness
- Hydrocephalus
- Intracranial Hypertension
- Joint Diseases
- Liver Diseases
- Lung Diseases
- Lymphatic Diseases
- Macrocephaly
- Macroglossia
- Malformations of Cortical Development
- Maxillofacial Abnormalities
- Median Neuropathy
- Mobility Limitation
- Mucinoses
- Musculoskeletal Pain
- Nerve Compression Syndromes
- Ocular Hypertension
- Otitis
- Pain
- Respiration Disorders
- Respiratory Insufficiency
- Respiratory Tract Diseases
- Respiratory Tract Infections
- Signs and Symptoms
- Signs and Symptoms, Digestive
- Sleep Apnea Syndromes
- Sleep Apnea, Obstructive
- Spinal Cord Compression
- Spinal Cord Diseases
- Spinal Diseases
- Spinal Stenosis
- Splenic Diseases
- Stomatognathic System Abnormalities
- Tongue 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.
- 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 |
83
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