View disease #00013

Official abbreviation FAP
Name Familial amyloid polyneuropathy
OMIM ID 105210
Individuals reported having this disease 0
Phenotype entries for this disease 0
Associated with 4 genes APCS, C1QA, C1QC, TTR
Associated tissues -
Disease features numbness - tingling and pins and needles in hands and feet, weakness and pain in the arms and legs, loss of sensation, kidney failure, protein loss in urine, blurred vision, blindness, postural hypotension, disturbed bowel function - alternating diarrhoea and constripation, urinary retention, impotence, reduced sweating, cardiac arrhythmia
Remarks 1) autosomal dominant inheritance
2) very rare (only 8000 cases worldwide)
3) big phenotype heterogeniety and low penetrance
4) 36 G/C patients