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Disease Information for Fabrys disease/Angiokeratatosis (trihexose ceramide): Clinical Manifestations

Signs & Symptoms: Adolescent
: Cardiomegaly/Heart dilatation; High blood pressure child; High blood pressure/sign; Vasospasm of extremities/Signs
: Angiokeratoma on thighs,scrotum, low abdomen; Angiokeratosis/skin; Bathing-suit skin area rash/lesions; Burning/stinging skin sensations/diffuse; Buttock area rash; Decreased sweating/Absent sweating; Diascopy/vascular blanches; Distribution/umbilicus waist area lesions; Facial erythema; Facial flushing/Beet red; Finger wrinkling/hot water challenge/decreased; Flushing; Lower trunk lesions/skin; Macules/periumbilical/red/black/blue; Mosquito bites/don't itch; Multiple angiokeratoses; Petechiae in small clusters; Rash Periungua/Perioral/Inguinal/Buttocks; Skin lesions; Subcutaneous nodules
: Scrotal macules/spots
: Abdominal pain/Improves fasting; Acute abdomen with no signs; Diffuse Abdominal Pain; Postprandial bloating/fullness; Punctate dark blue spots/periumbilical area; Recurrent Abdominal Pain; Weight loss in Children
: Acroparesthesias Acral Paresthesias; Finger Pain; Pain in Extremities/Melalgias; Painful hands and feet
: Arm pain/stinger type (epicritic/trauma); Autonomic instability/Variable BP/HR; Burning feet; Burning hands worse with exercise/heat; Moro Reflex unilateral Abnormal; Neuropathic Epicritic Pain; Numbness/distal fingers and toes; Paresthesias; Stroke Syndrome Child; Stroke Syndrome/Hereditary Disease; Symmetric Polyneuropathy; Uhthoff phenomenon Heat-trigger Weakness
: Apparently well Silent disorder possible; Constitutional symptoms; Fever; Fever Febrile Possible; Fever, high; Fever, intermittant/recurrent; Flu-Like Syndrome; Heat intolerance/Warm all the time; High body temperature; Multisystem disease/signs; Weight Loss
: Corneal opacity; Propeller-like lens opacity/sign
Typical Clinical Presentation: Stroke syndrome kids/metabolic causes
: Presentation/Coronary Heart Disease Young Age
Clinical Presentation & Variations: Presentation/Non diabetic Ketoacidosis Kids infants
: Presentation/Painful peripheral neuropathy Boys Recurrent
: Presentation/Congenital Syndromes Renal failure
: Presentation/Juvenile Cataract
Disease Progression: Course/Attacks Episodic Spells; Course/Chronic disease crisis/flare/attacks; Course/Chronic disorder; Course/Chronic only; Course/Life-span decreased; Course/Recurrent illness pattern; Prognosis/Death about age 50 avg

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