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Disease Information for Adult amaurotic familial idiocy

Clinical Manifestations
Signs & Symptoms: Parotid swelling
: Lymphadenopathy
: Regressing neuromotor/skills child/signs
Disease Progression: Course/Chronic disorder; Course/Chronic only
Demographics & Risk Factors
Ethnic or Racial Factors: Ashkenasi Jewish population; Middle Eastern Population
Population Group: Child; Population/Pediatrics population
Sex & Age Groups: Population/Child; Population/Children/all; Population/Male
Diagnostic Test Results
Ultrasound: Echo/Pulmonary artery hypertension
Associated Diseases & Rule outs
Associated Disease & Complications: Pulmonary hypertension
Disease Mechanism & Classification
Class: CLASS/Pediatric disorders (ex)
Pathophysiology: Pathophysiology/Adult variant disease milder; Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
: Pathophysiology/Ganglioside accumulation brain
: Pathophysiology/Adult Niemann-Pick/sphingomyelin
Process: PROCESS/Enzyme defect/Metabolic disorder (ex); PROCESS/Hereditofamilial (category); PROCESS/Metabolic/storage disorder (category); PROCESS/Storage disorder (ex); PROCESS/Variant expressions/Subsets (ex)
: PROCESS/Cerebral lipidoses (ex)
Synonyms
Synonym: Adult Neuronal Ceroid Lipfuscinosis, Adult neuronal ceroid lipofusc, Adult neuronal ceroid lipofuscinosis, Adult neuronal ceroid lipofuscinosis (disorder), Adult type amaurotic idiocy, Amaurotic idiocy adult type, Amaurotic idiocy late familial, CEROID LIPOFUSCINOSIS NEURONAL 4 AUTOSOMAL RECESSIVE, CLN4, Disease Kufs', Kufs, KUFS DIS, Kufs Disease, Kuf's disease, Kufs' disease, KUFS DISEASE AUTOSOMAL RECESSIVE, Kufs neuronal ceroid lipofusc, Kufs type neuronal ceroid lipofuscinosis, Late familial amaurotic idiocy, Neuronal Ceroid Lipfuscinosis Adult, Neuronal lipofuscinosis adult, Synonym/Adult sphingomyelin lipoidosis, Synonym/Sphingomyelin lipidosis
Treatment
Other Treatments: TX/Genetic counselling
Definition: Be the first to add a definition for Adult amaurotic familial idiocy
External Links Related to Adult amaurotic familial idiocy: 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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