The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Aminoaciduria | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Cherry red spot of the macula | Very frequent (present in 80%-99% of cases) |
| Coarse facial features | Very frequent (present in 80%-99% of cases) |
| Corneal opacity | Very frequent (present in 80%-99% of cases) |
| Delayed skeletal maturation | Very frequent (present in 80%-99% of cases) |
| Dysostosis multiplex | Very frequent (present in 80%-99% of cases) |
| Gait disturbance | Very frequent (present in 80%-99% of cases) |
| Hyperkeratosis | Very frequent (present in 80%-99% of cases) |
| Increased urinary O-linked sialopeptides | Very frequent (present in 80%-99% of cases) |
| Myoclonus | Very frequent (present in 80%-99% of cases) |
| Neurological speech impairment | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Pectus carinatum | Very frequent (present in 80%-99% of cases) |
| Progressive visual loss | Very frequent (present in 80%-99% of cases) |
| Retinopathy | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Very frequent (present in 80%-99% of cases) |
|
| Sensorineural hearing impairment | Very frequent (present in 80%-99% of cases) |
| Short thorax | Very frequent (present in 80%-99% of cases) |
| Skeletal dysplasia | Very frequent (present in 80%-99% of cases) |
| Slurred speech | Very frequent (present in 80%-99% of cases) |
| Splenomegaly | Very frequent (present in 80%-99% of cases) |
| Thick lower lip vermilion | Very frequent (present in 80%-99% of cases) |
| Urinary excretion of sialylated oligosaccharides | Very frequent (present in 80%-99% of cases) |
| Vascular skin abnormality | Very frequent (present in 80%-99% of cases) |
| Visual impairment | Very frequent (present in 80%-99% of cases) |
| Wide nasal bridge | Very frequent (present in 80%-99% of cases) |
| Abnormal form of the vertebral bodies | Frequent (present in 30%-79% of cases) |
| Decreased nerve conduction velocity | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Frontal bossing | Frequent (present in 30%-79% of cases) |
| Hernia | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Muscular |
Frequent (present in 30%-79% of cases) |
| Skeletal muscle atrophy | Frequent (present in 30%-79% of cases) |
| Tremor | Frequent (present in 30%-79% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Kyphosis | Occasional (present in 5%-29% of cases) |
| Ascites | - |
| - | |
| Bone-marrow foam |
- |
| Cardiomegaly | - |
| - | |
| Dysmetria | - |
| Epiphyseal stippling | - |
| Facial edema | - |
| Hepatomegaly | - |
| Hydrops fetalis | - |
| Hyperreflexia | - |
| Inguinal hernia | - |
| - | |
| Vacuolated |
- |
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
Gordon Research Conference and Gordon Research Seminar on Lysosomes and Endocytosis
Sunday, June 15, 2014 -
Friday, June 20, 2014
Location: Proctor Academy,
Andover,
NH
Description: The main goal of the Lysosomes and Endocytosis GRC is to foster the dissemination of current research results and the establishment of new research areas and new collaborations in the area of the cell biology of endocytosis, lysosomes, endosomes and related organelles. We hope that many of these new directions and collaborations will be directed toward the etiology, diagnosis and treatment of rare genetic diseases such as lysosomal storage disorders, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Niemann Pick disease and tuberous sclerosis, among others.
Contact: Alexandra Ainsztein, Ph.D.(301) 594-0828, Alexandra.Ainsztein@nih.gov
Co-funding Institute(s): National Institute of General Medical Sciences, Office of Rare Diseases Research
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
What is sialidosis type I? How might this condition be treated? See answer
