proteasome-associated autoinflammatory syndrome 1
proteasome-associated autoinflammatory syndrome 1 is a medical condition that may be associated with various symptoms and signs.
Also known as: PRAAS1, proteasome-associated autoinflammatory syndrome 1, proteasome-associated autoinflammatory syndrome 1 and digenic forms.
Category: General
Symptoms associated with proteasome-associated autoinflammatory syndrome 1
The following symptoms have been associated with proteasome-associated autoinflammatory syndrome 1 in medical literature. Not everyone experiences the same symptoms.
Arthralgia
Joint pain....
Chronic constipation
Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard...
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Finger swelling
Enlargement of the soft tissues of one or more fingers....
Muscle weakness
Reduced strength of muscles....
Recurrent fever
Periodic (episodic or recurrent) bouts of fever....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tests used to investigate proteasome-associated autoinflammatory syndrome 1
Healthcare providers may order these tests when evaluating proteasome-associated autoinflammatory syndrome 1. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with proteasome-associated autoinflammatory syndrome 1, which is why a clinical evaluation is important.
Addison disease
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Gitelman syndrome
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Idiopathic hypereosinophilic syndrome
Idiopathic hypereosinophilic syndrome is a medical condition that may be associated with various symptoms and ...
Netherton syndrome
Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a dis...
intellectual developmental disorder, autosomal dominant 77
intellectual developmental disorder, autosomal dominant 77 is a medical condition that may be associated with ...
intellectual disability, autosomal dominant 43
Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation i...
Frequently Asked Questions
What is proteasome-associated autoinflammatory syndrome 1?
proteasome-associated autoinflammatory syndrome 1 is a health condition described in medical literature. proteasome-associated autoinflammatory syndrome 1 is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of proteasome-associated autoinflammatory syndrome 1?
proteasome-associated autoinflammatory syndrome 1 is associated with 7 symptoms in the medical literature we index, including Arthralgia, Chronic constipation, Failure to thrive, Finger swelling, Muscle weakness, Recurrent fever. Symptoms vary widely between individuals.
How is proteasome-associated autoinflammatory syndrome 1 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with proteasome-associated autoinflammatory syndrome 1 include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have proteasome-associated autoinflammatory syndrome 1, please discuss your symptoms with a qualified healthcare provider.