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Mucopolysaccharidosis, MPS-I

disorder
SNOMED 75610003CUI C0023786

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Treatments & Interventions

Laronidase

substance

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abdominal protuberance
Always present (100%)HP:0001538
Bilateral ptosis
Always present (100%)HP:0001488
Calvarial hyperostosis
Always present (100%)HP:0004490
Dermatan sulphate excretion in urine
Always present (100%)HP:0008301
Diminished tissue alpha-L-iduronidase activity
Always present (100%)HP:6000910
Dysostosis multiplex
Always present (100%)HP:0000943
Heparan sulphate excretion in urine
Always present (100%)HP:0002159
Hepatosplenomegaly
Always present (100%)HP:0001433
Hypertrophy of cranial bones
Always present (100%)HP:0004437
Increased distance between eyes
Always present (100%)HP:0000316
Recurrent middle ear infection
Always present (100%)HP:0000403
Umbilical hernia
Always present (100%)HP:0001537
Widened metaphyses
Always present (100%)HP:0003016
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Abnormal vertebral bodies
Very frequent (80-99%)HP:0003312
Abnormality of the tonsils
Very frequent (80-99%)HP:0100765
Broad flat nasal bridge
Very frequent (80-99%)HP:0000431
Chronic ear infection
Very frequent (80-99%)HP:0000389
Cobb angle greater than ten degrees
Very frequent (80-99%)HP:0002650
Cognitive delay
Very frequent (80-99%)HP:0001263
CP
Very frequent (80-99%)HP:0100021
Enlarged liver
Very frequent (80-99%)HP:0002240
Frontal protuberance
Very frequent (80-99%)HP:0002007
Generalized hirsutism
Very frequent (80-99%)HP:0002230
Hernia
Very frequent (80-99%)HP:0100790
Large facies
Very frequent (80-99%)HP:0100729
Limitation of joint mobility
Very frequent (80-99%)HP:0001376
Mitral regurgitation, mild
Very frequent (80-99%)HP:0001653
Mucopolysacchariduria
Very frequent (80-99%)HP:0008155
Multiple vertebral anomalies
Very frequent (80-99%)HP:0003468

Related Conditions

Mucopolysaccharidosis, MPS-I-H/S(child)
Mucopolysaccharidosis, MPS-I-H(child)
Mucopolysaccharidosis, MPS-I-S(child)
Mucopolysaccharidosis(parent)
Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT
75610003
UMLS CUI
C0023786
Fully Specified Name
Mucopolysaccharidosis type I (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Known Treatments
1
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.