This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names | Learn More: HPO ID |
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Abnormality of multiple |
0012145 | |
|
Low number of red blood cells or hemoglobin
|
0001903 | |
| Areflexia |
Absent tendon reflexes
|
0001284 |
| Bruising |
Bruise easily
Easy bruisability
Easy bruising
[ more ]
|
0000978 |
| Fever | 0001945 | |
| Generalized hypopigmentation |
Fair skin
Pale pigmentation
[ more ]
|
0007513 |
| Gingival bleeding |
Bleeding gums
|
0000225 |
| Global |
0001263 | |
| Hepatomegaly |
Enlarged liver
|
0002240 |
|
Decreased immune function
|
0002721 | |
| Iris hypopigmentation |
Light eye color
|
0007730 |
| Lymphadenopathy |
Swollen lymph nodes
|
0002716 |
| Neutropenia |
Low blood neutrophil count
Low neutrophil count
[ more ]
|
0001875 |
| Paresthesia |
Pins and needles feeling
Tingling
[ more ]
|
0003401 |
| Periodontitis | 0000704 | |
| Recurrent cutaneous abscess formation | 0100838 | |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|
0002205 |
| Skin ulcer |
Open skin sore
|
0200042 |
| Splenomegaly |
Increased spleen size
|
0001744 |
|
Low platelet count
|
0001873 | |
| White hair | 0011364 | |
| 30%-79% of people have these symptoms | ||
| Amblyopia |
Lazy eye
Wandering eye
[ more ]
|
0000646 |
| Edema |
Fluid retention
Water retention
[ more ]
|
0000969 |
| Epistaxis |
Bloody nose
Frequent nosebleeds
Nose bleed
Nose bleeding
Nosebleed
[ more ]
|
0000421 |
| Lymphoma |
Cancer of lymphatic system
|
0002665 |
|
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
| Photophobia |
Extreme sensitivity of the eyes to light
Light hypersensitivity
[ more ]
|
0000613 |
| 0001250 | ||
| Tremor | 0001337 | |
| 5%-29% of people have these symptoms | ||
| 0001251 | ||
| Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ]
|
0001631 |
| Bradykinesia |
Slow movements
Slowness of movements
[ more ]
|
0002067 |
| Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
|
Loss of developmental milestones
Mental deterioration in childhood
[ more ]
|
0002376 | |
| Gastrointestinal hemorrhage |
Gastrointestinal bleeding
|
0002239 |
| Generalized hyperpigmentation | 0007440 | |
| Melanocytic nevus |
Beauty mark
|
0000995 |
| Rigidity |
Muscle rigidity
|
0002063 |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000007 | ||
| Cranial nerve paralysis | 0006824 | |
| Decreased nerve conduction velocity | 0000762 | |
| Foot dorsiflexor weakness |
Foot drop
|
0009027 |
| Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ]
|
0001288 |
| Giant melanosomes in melanocytes | 0005592 | |
| Gingivitis |
Inflamed gums
Red and swollen gums
[ more ]
|
0000230 |
| Hypopigmentation of hair |
Loss of hair color
|
0005599 |
| Hypopigmentation of the skin |
Patchy lightened skin
|
0001010 |
| Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ]
|
0001265 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
|
Yellow skin
Yellowing of the skin
[ more ]
|
0000952 | |
| Leukopenia |
Decreased blood leukocyte number
Low white blood cell count
[ more ]
|
0001882 |
| Macular hypoplasia | 0001104 | |
| Neurodegeneration |
Ongoing loss of nerve cells
|
0002180 |
| Progressive |
0007133 | |
| Recurrent bacterial skin infections | 0005406 | |
| Recurrent systemic pyogenic infections | 0005429 | |
| Reduced visual acuity |
Decreased clarity of vision
|
0007663 |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
|
Conditions with similar signs and symptoms from Orphanet
|
|---|
|
Differential diagnoses include oculocutaneous albinism, Hermansky Pudlak syndrome (specifically HPS-2 caused by mutations in AP3B1), Cross syndrome and Griscelli disease (see these terms).
Visit the
Orphanet disease page
for more information.
|
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.
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.
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.
