Orpha Number: 2615
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 the Leydig |
0010789 | |
Arthralgia |
Joint pain
|
0002829 |
Arthrogryposis multiplex congenita | 0002804 | |
Elevated |
High ESR
|
0003565 |
Erythema nodosum | 0012219 | |
Hepatomegaly |
Enlarged liver
|
0002240 |
Hyperostosis |
Bone overgrowth
|
0100774 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
Lipoatrophy |
Loss of fat tissue in localized area
|
0100578 |
Recurrent fever |
Episodic fever
Increased body temperature, episodic
Intermittent fever
[ more ]
|
0001954 |
Skin rash | 0000988 | |
Splenomegaly |
Increased spleen size
|
0001744 |
Subcutaneous nodule |
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ]
|
0001482 |
30%-79% of people have these symptoms | ||
Clubbing of fingers |
Clubbed fingers
Clubbing (hands)
Finger clubbing
[ more ]
|
0100759 |
Clubbing of toes | 0100760 | |
Hyperhidrosis |
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ]
|
0000975 |
Increased circulating |
0010702 | |
Lymphadenopathy |
Swollen lymph nodes
|
0002716 |
Muscle weakness |
Muscular weakness
|
0001324 |
Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
5%-29% of people have these symptoms | ||
Abnormal pyramidal sign | 0007256 | |
Arachnodactyly |
Long slender fingers
Spider fingers
[ more ]
|
0001166 |
Arrhythmia |
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ]
|
0011675 |
Cardiomegaly |
Enlarged heart
Increased heart size
[ more ]
|
0001640 |
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ]
|
0001635 |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 | |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ]
|
0000158 |
Macrotia |
Large ears
|
0000400 |
Microcytic |
0001935 | |
Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ]
|
0000448 |
Respiratory insufficiency |
Respiratory impairment
|
0002093 |
Right bundle branch block | 0011712 | |
0001250 | ||
Decreased body height
Small stature
[ more ]
|
0004322 | |
Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ]
|
0000179 |
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 |
Anemia |
Low number of red blood cells or hemoglobin
|
0001903 |
0000007 | ||
Basal ganglia calcification | 0002135 | |
Bone pain | 0002653 | |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Conjunctivitis |
Pink eye
|
0000509 |
Elbow flexion |
Contractures of elbows
Elbow contracture
Elbow contractures
[ more ]
|
0002987 |
Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
Episcleritis |
Inflammation of the thin layer on top of the white part of eye
|
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 |
Hyperpigmentation of the skin |
Patchy darkened skin
|
0000953 |
Hypertriglyceridemia |
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ]
|
0002155 |
Lipodystrophy |
Inability to make and keep healthy fat tissue
|
0009125 |
Long fingers | 0100807 | |
Osteopenia | 0000938 | |
Panniculitis |
Inflammation of fat tissue
|
0012490 |
Stiff skin | 0030053 | |
Low platelet count
|
0001873 |
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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