Disease Information for Goldberg Syndrome

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Clinical Manifestations
Signs & Symptoms
Angiokeratosis/skin
Hepatosplenomegaly
Ataxia
Development Motor Skills (Milestones) Delayed
Mental Deficiency Child
Myoclonus/Myoclonic jerks on exam
Neurologic manifestations/signs
Nystagmus
Seizures
Splenomegaly
Coarsened facial features
Short stature
Short stature Child
Cherry red spot/retinal sign
Telangiectasia/conjunctiva
Clinical Presentation & Variations
Presentation/Death in infancy
Demographics & Risk Factors
Sex & Age Groups
Population/Child
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Beta-galacosidase defect/WBC assay (Lab)
Beta-galactasidase defect/Skin fibroblast cultures/assay (Lab)
Vacuolated lymphocytes/Lab
Abnormal Lab Findings - Increased
URINE Glycoproteins
Diagnostic Test Results
Pathology
Bone marrow/Foam cells
X-RAY
Xray/Dysostosis multiplex findings
Associated Diseases & Rule outs
Associated Disease & Complications
Aortic regurgitation
Ascites in Children
Blindness
Blindness in Children
Dwarfism
Dysostosis multiplex
Edema of newborn
Glucosidosis
Hemangioma
Mental retardation
Vertebral anomalies
Hydrops fetalis/CHF anasarca
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Gene locus 20q13
Pathophysiology/Gene locus Chromosome 20
Pathophysiology/Lysosome storage disorder (ex)
Pathophysiology/Subset juvenile form/variant occurs
Pathophysiology/Cathepsin A Deficiency
Pathophysiology/CTSA (Cathepsin A) Gene Mutation
Pathophysiology/Gene locus 20q13.1
Pathophysiology/Lysosomal Protective Protein Deficiency
Pathophysiology/Neuraminidase/Beta-galactosidase defects
Pathophysiology/Protective Protein Cathepsin A (PPCA) Deficiency
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Extremely rare disease
PROCESS/Metabolic/storage disorder (category)
PROCESS/Variant expressions/Subsets (ex)
Synonyms
Synonym
Synonym/Glycoprotein neuraminidase deficiency
Definition
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External Links Related to Goldberg Syndrome
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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