LA14036-0
Fabry disease
Active
Answer Description
Fabry disease is an inherited disorder that results from the buildup of a fatty substance called globotriaosylceramide in the body's cells. This buildup leads to episodes of pain, particularly in the hands and feet; small, dark red spots on the skin called angiokeratomas; decreased sweating (hypohidrosis); corneal opacity; and hearing loss. Fabry disease can also involve potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. This disorder is caused by mutations in the GLA gene; it has an X-linked pattern of inheritance.
Answer Lists using this Answer Code
| Answer List | Answer List Name | Externally Defined |
|---|---|---|
| LL1043-0 | LDS | N |
| LL835-0 | NBS conditions | N |
| LL841-8 | NBS conditions tested | N |
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