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 |
|---|---|---|
| 5%-29% of people have these symptoms | ||
| Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ]
|
0011675 |
|
Seizure
|
0001250 | |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormally large globe |
Increased size of eyes
Large eyes
[ more ]
|
0001090 |
| Adipose |
Loss of fat tissue
|
0008887 |
|
Low number of red blood cells or hemoglobin
|
0001903 | |
| Arthralgia |
Joint pain
|
0002829 |
| 0000007 | ||
| Basal ganglia calcification | 0002135 | |
| Bone pain | 0002653 | |
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Cardiomegaly |
Enlarged heart
Increased heart size
[ more ]
|
0001640 |
| Clubbing of fingers |
Clubbed fingers
Clubbing (hands)
Finger clubbing
[ more ]
|
0100759 |
| Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ]
|
0001635 |
| Conjunctivitis |
Pink eye
|
0000509 |
| Elbow flexion |
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ]
|
0002987 |
| Elevated |
High ESR
|
0003565 |
| Elevated hepatic transaminases |
High liver enzymes
|
0002910 |
| Episcleritis | 0100534 | |
| Erythema | 0010783 | |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Finger swelling | 0025131 | |
| Flexion contracture of toe | 0005830 | |
| Growth abnormality |
Abnormal growth
Growth issue
[ more ]
|
0001507 |
| Hepatomegaly |
Enlarged liver
|
0002240 |
| Hyperpigmentation of the skin |
Patchy darkened skin
|
0000953 |
| Hypertriglyceridemia |
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ]
|
0002155 |
| Increased |
0010702 | |
|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 | |
| Lipodystrophy | 0009125 | |
| Long fingers | 0100807 | |
| Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ]
|
0000158 |
| Macrotia |
Large ears
|
0000400 |
| Microcytic anemia | 0001935 | |
| Muscle weakness |
Muscular weakness
|
0001324 |
| Osteopenia | 0000938 | |
| Panniculitis |
Inflammation of fat tissue
|
0012490 |
| Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ]
|
0000448 |
| Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
| Splenomegaly |
Increased spleen size
|
0001744 |
| Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ]
|
0000179 |
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 other proteasome disability syndromes as well as CINCA syndrome, panniculitis-induced acquired generalized lipodystrophy, Sweet syndrome (see these terms), and other annular eruptions of infancy and skin involvement as seen in acute myeloid leukemia (see this term).
Visit the
Orphanet disease page
for more information.
|
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.
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