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) |
| Blepharitis | Very frequent (present in 80%-99% of cases) |
| Edema | Very frequent (present in 80%-99% of cases) |
| Hepatomegaly | Very frequent (present in 80%-99% of cases) |
| Mediastinal lymphadenopathy | Very frequent (present in 80%-99% of cases) |
| Petechiae | Very frequent (present in 80%-99% of cases) |
| Sea-blue histiocytosis | Very frequent (present in 80%-99% of cases) |
| Splenomegaly | Very frequent (present in 80%-99% of cases) |
| Subcutaneous nodule | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Pulmonary infiltrates | Frequent (present in 30%-79% of cases) |
| Hyperpigmentation of the skin | Occasional (present in 5%-29% of cases) |
| Hypopigmentation of the skin | Occasional (present in 5%-29% of cases) |
| Retinopathy | Occasional (present in 5%-29% of cases) |
| Abnormality of the eye | - |
| Absent axillary hair | - |
| - | |
| Cirrhosis | - |
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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
WORLD Symposium 2010 (Lysosomal Disease Network's 6th Annual Research Meeting)
Wednesday, February 10, 2010 -
Friday, February 12, 2010
Location: Miami Hilton Downtown,
Miami,
Florida
Description: The specific aims of this meeting were to (1) emphasize the strategies for, and identify the obstacles to, moving from translational research to clinical trials; (2) coalesce members of the LD network into functional research collaborations and present to the LDN community progress on the specific projects that are part of the funded U54 RDCRN grant; (3) foster interdisciplinary collaboration with the overall goal of improving knowledge of basic discoveries and clinical manifestations of these diseases; (4) provide an educational forum for young investigators, clinicians, and researchers in the field; (5) identify and discuss the latest findings in the natural history of lysosomal diseases, diagnostic testing and screening, and treatment, with specific focus on (a) inflammatory components of lysosomal diseases and autophagy, especially in the central nervous system, (b) new treatments of the central nervous systems, and (c) ethics and efficacy in treating the presymptomatic or asymptomatic patient; and (6) identify areas requiring additional basic and clinical research and public policy and regulatory attention, such as ethics and economics, and factors that impact implementation of therapy, including newborn screening.
Contact: Dr. Danilo A. Tagle(301) 496-5745tagled@mninds.nih.gov
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research
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