|Clinical Setting||n||Age (yrs)||Mutated Probands||Inclusion Criteria → Common to All Disciplines∗|
|Neurology||1,323||48 (40–55)||17 (1.28)||Cryptogenic stroke, TIA, migraine with/without aura with imaging showing WML|
|Cardiology||473||46 (33–59)||8 (1.69)||HCM, concentric mild LVH, no LV outflow tract obstruction|
|Nephrology||72||51.5 (46–64)||2 (2.7)||Chronic renal failure; proteinuria, increased urinary albumin excretion|
|Ophthalmology||23||43 (35–51)||3 (13)||Noniatrogenic cornea verticillata, juvenile cataract, retinal vessel tortuosity|
|Pediatrics||41||13 (8.5–15)||3 (7.3)||Abdominal crises of pain with diarrhea after exclusion of CD and IBD; acroparesthesias/neuropathic pain, heat intolerance|
|Internal medicine/gastroenterology||47||45 (36–53)||3 (6.3)||Gastrointestinal and multiorgan/tissue disturbances/involvement|
|Medical genetics||28||40 (39–53)||2 (7.1)||Multiorgan/tissue involvement suspected for AFD with evaluation of possible X-linked transmission in family pedigrees|
|Dermatology||27||45 (37–53)||0||Presence of angiokeratomas not exclusively located in typical “bathing suit” areas; labial and proximal nail fold telangiectasia|
Values are n, median (interquartile range), or n (%).
AFD = Anderson-Fabry disease; CD = Crohn’s disease; HCM = hypertrophic cardiomyopathy; IBD = irritable bowel disease; LV = left ventricular; LVH = left ventricular hypertrophy; TIA = transient ischemic attack; WML = white matter lesions.
↵∗ Exclusion of most common causes of similar phenotypes and of probands from families with male-to-male transmission.