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GENATLAS PHENOTYPE |
last update : 10-09-2012 |
Symbol | FHD |
Location | 1q42.1 |
Name | fumarate hydratase deficiency |
Other name(s) | fumaric aciduria |
Corresponding gene | FH |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | neurology |
metabolism/organic acid | |
Type | disease |
Gene product |
Name | fumarate hydratase (FH) |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| missense
|  
| abnormal protein/loss of function
| H275Y
| |
Remark(s) | allelic with hereditary multiple cutaneous and uterine leiomyomatas and hereditary leiomyomatosis and renal cell cancer |