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 |
---|---|---|
1%-4% of people have these symptoms | ||
Darkened and thickened skin
|
0000956 | |
Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ]
|
0011675 |
Arthralgia |
Joint pain
|
0002829 |
Basal ganglia calcification | 0002135 | |
Bone pain | 0002653 | |
Childhood onset |
Symptoms begin in childhood
|
0011463 |
Chronic constipation |
Infrequent bowel movements
|
0012450 |
Conjunctivitis |
Pink eye
|
0000509 |
Death in adolescence | 0011421 | |
Decreased HDL cholesterol concentration |
Decreased circulating high-density lipoprotein cholesterol
Decreased HDL cholesterol
Low HDL-cholesterol
[ more ]
|
0003233 |
Elevated C-reactive |
0011227 | |
Elevated |
High ESR
|
0003565 |
Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
Epididymitis | 0000031 | |
Episcleritis |
Inflammation of the thin layer on top of the white part of eye
|
0100534 |
Erythema nodosum | 0012219 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
Finger swelling | 0025131 | |
Flexion |
0012785 | |
Enlarged male breast
|
0000771 | |
Hallux valgus |
Bunion
|
0001822 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Hypertrichosis | 0000998 | |
Hypertriglyceridemia |
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ]
|
0002155 |
Hypoplastic scapulae |
Small shoulder blade
|
0000882 |
Increased circulating IgA level | 0003261 | |
Increased circulating IgG level | 0003237 | |
Increased circulating interleukin 6 | 0030783 | |
Increased circulating interleukin 8 | 0033178 | |
Increased serum |
0030356 | |
Increased thyroid-stimulating |
0002925 | |
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ]
|
0003593 |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 | |
Irregular menstruation |
Menstrual irregularity
|
0000858 |
Lipodystrophy |
Inability to make and keep healthy fat tissue
|
0009125 |
Lymphadenopathy |
Swollen lymph nodes
|
0002716 |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ]
|
0000158 |
Microcytic anemia | 0001935 | |
Parotitis | 0011850 | |
Premature graying of hair |
Early graying
Premature graying
Premature greying
Premature hair graying
[ more ]
|
0002216 |
Progeroid facial appearance |
Premature aged appearance
|
0005328 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
Protuberant abdomen |
Belly sticks out
Extended belly
[ more ]
|
0001538 |
Punctate opacification of the cornea | 0007856 | |
Recurrent fever |
Episodic fever
Increased body temperature, episodic
Intermittent fever
[ more ]
|
0001954 |
Recurrent otitis media |
Recurrent middle ear infection
|
0000403 |
Recurrent sinusitis | 0011108 | |
Reduced tendon reflexes | 0001315 | |
0001250 | ||
Short stature |
Decreased body height
Small stature
[ more ]
|
0004322 |
Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
Skin plaque | 0200035 | |
Sparse axillary hair |
Limited armpit hair
Little underarm hair
[ more ]
|
0002215 |
Splenomegaly |
Increased spleen size
|
0001744 |
Low platelet count
|
0001873 | |
Percent of people who have these symptoms is not available through HPO | ||
Adipose |
Loss of fat tissue
|
0008887 |
0000007 | ||
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 |
Elbow flexion contracture |
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ]
|
0002987 |
Erythema | 0010783 | |
Flexion contracture of toe | 0005830 | |
Growth abnormality |
Abnormal growth
Growth issue
[ more ]
|
0001507 |
Hyperpigmentation of the skin |
Patchy darkened skin
|
0000953 |
Impaired glucose tolerance | 0040270 | |
Long fingers | 0100807 | |
Loss of facial adipose tissue |
Decreased amount of facial fat
Loss of facial fat
[ more ]
|
0000292 |
Macrotia |
Large ears
|
0000400 |
Muscle weakness |
Muscular weakness
|
0001324 |
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 |
Stiff skin | 0030053 | |
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
|
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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.
|
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