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||
|100% of people have these symptoms|
Peripheral nerve disease
|80%-99% of people have these symptoms|
|Abnormality of skin physiology||0011122|
Decreased activity of gonads
|30%-79% of people have these symptoms|
Absent tendon reflexes
Accumulation of fluid in the abdomen
|Clubbing of fingers||
Finger clubbing[ more ]
Tiredness[ more ]
Enlarged male breast
|Hyperpigmentation of the skin||
Patchy darkened skin
White discoloration of nails
Swollen lymph nodes
Increased bone density in wide portion of long bone
Pins and needles feeling
Tingling[ more ]
Fluid around heart
Fluid around lungs
|Primary adrenal insufficiency||0008207|
Increased blood pressure in blood vessels of lungs
|Sclerosis of foot bone||
Increased bone density in foot bone
|Sclerosis of hand bone||
Increased bone density in hand bone
|Sclerosis of skull base||
Dense bone of skull base
|Sclerotic vertebral endplates||0004576|
Increased number of platelets in blood
|5%-29% of people have these symptoms|
Persistent blue color of hands, feet, or parts of face
Blood clot in artery
Inability to make and keep healthy fat tissue
Increased red blood cells
|Respiratory insufficiency due to muscle weakness||
Decreased lung function due to weak breathing muscles
|Restrictive deficit on pulmonary function testing||0002111|
Blood clot in vein
Many affected people are initially misdiagnosed as having other disorders, such as chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). In addition, a number of conditions are associated with a plasma
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
The main differential diagnoses are chronic inflammatory demyelinating polyneuropathy, AL amyloidosis and Guillain-Barré syndrome (see these terms). Monoclonal gammopathy of undetermined significance (MGUS) and should also be considered.
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.
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