| Concept UI |
CON00029 (Tree)
|
| Name |
Hurler syndrome
|
| Aliases |
MPS1-H
Pfaundler-Hurler syndrome
Gargoylism, Hurler syndrome
Mucopolysaccharidosis type IH
|
| Disease name: Preferred Term |
HURLER SYNDROME
|
| Disease name: Synonyms (from OMIM and MeSH) |
MUCOPOLYSACCHARIDOSIS TYPE IH
Dysostosis multiplex syndrome
Hurler's syndrome
Pfaundler-Hurler syndrome
MPS1-H
Gargoylism, Hurler syndrome
Mucopolysaccharidosis type 1H
|
| UMLS CUI |
C0086795
|
| UMLS SAB |
MeSH
|
| UMLS CODE |
D008059
|
| OMIM DATA: Gene |
IDUA
|
| OMIM DATA: Gene Number |
252800
|
| OMIM DATA: Phenotype Number |
607014
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Airway Obstruction
- Blindness (Vision loss)
- Bone Diseases, Developmental
- Brain Diseases
- Cardiovascular Diseases
- Carpal Tunnel Syndrome
- Communication Disorders
- Connective Tissue Diseases
- Constipation
- Contracture
- Corneal Diseases
- Corneal Opacity (Corneal clouding)
- Coronary Artery Disease
- Coronary Disease
- Craniofacial Abnormalities
- Developmental Disabilities
- 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
- Intellectual Disability (Mental Retardation)
- Intracranial Hypertension
- Joint Diseases
- Learning Disorders
- Liver Diseases
- Lung Diseases
- Lymphatic Diseases
- Macrocephaly
- Macroglossia
- Malformations of Cortical Development
- Maxillofacial Abnormalities
- Median Neuropathy
- Mental Disorders Diagnosed in Childhood
- Mobility Limitation
- Mucinoses
- Musculoskeletal Pain
- Nerve Compression Syndromes
- Neurobehavioral Manifestations
- Ocular Hypertension
- Otitis
- Pain
- Respiration Disorders
- Respiratory Insufficiency
- Respiratory Tract Diseases
- Respiratory Tract Infections
- Retinal Degeneration
- Retinal Diseases
- 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
|
|
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 |
82
|