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) |
| Abnormality of the macula | 90% |
| Aminoaciduria | 90% |
| Coarse facial features | 90% |
| Delayed skeletal maturation | 90% |
| Gait disturbance | 90% |
| Hyperkeratosis | 90% |
| Incoordination | 90% |
| Neurological speech impairment | 90% |
| Nystagmus | 90% |
| Opacification of the corneal stroma | 90% |
| Pectus carinatum | 90% |
| Retinopathy | 90% |
| Scoliosis | 90% |
| Seizures | 90% |
| Sensorineural hearing impairment | 90% |
| Short stature | 90% |
| Short thorax | 90% |
| Skeletal dysplasia | 90% |
| Splenomegaly | 90% |
| Thick lower lip vermilion | 90% |
| Visual impairment | 90% |
| Wide nasal bridge | 90% |
| Abnormal form of the vertebral bodies | 50% |
| Cognitive impairment | 50% |
| Decreased nerve conduction velocity | 50% |
| EEG abnormality | 50% |
| Frontal bossing | 50% |
| Hernia | 50% |
| Morphological abnormality of the central nervous system | 50% |
| Muscular hypotonia | 50% |
| Skeletal muscle atrophy | 50% |
| Tremor | 50% |
| Cataract | 7.5% |
| Kyphosis | 7.5% |
| Ascites | - |
| Autosomal recessive inheritance | - |
| Bone-marrow foam cells | - |
| Cardiomegaly | - |
| Cardiomyopathy | - |
| Cherry red spot of the macula | - |
| Dysmetria | - |
| Dysostosis multiplex | - |
| Epiphyseal stippling | - |
| Facial edema | - |
| Hepatomegaly | - |
| Hydrops fetalis | - |
| Hyperreflexia | - |
| Increased urinary O-linked sialopeptides | - |
| Inguinal hernia | - |
| Intellectual disability | - |
| Muscle weakness | - |
| Myoclonus | - |
| Progressive visual loss | - |
| Proteinuria | - |
| Slurred speech | - |
| Urinary excretion of sialylated oligosaccharides | - |
| Vacuolated lymphocytes | - |
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their 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.
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
