| Symbol
| HLRCC
|
| Location
| 1q42.1
|
| Name
|
hereditary leiomyomatosis |
| Corresponding gene
|
FH
|
| Other symbol(s)
| LRCC
|
| Main clinical features
|
cancer syndrome with predisposition to uterine leiomyomas and papillary renal cell carcinoma |
| Genetic determination
| autosomal dominant |
| Related entries
| . MCUL1, FHD
|
| Function/system disorder
| kidney and urinary tract |
|
| sex-genitalia |
|
| neoplasia |
| Type
| susceptibility factor
|
| Name
| fumarate hydratase catalyses the conversion of fumarate to malate in the Krebs cycle
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
| frameshift
|
|
| germline mutations
| | missense
|
|
| germline mutations, common mutations R190H and R58X
| |
| Remark(s)
|
germline mutations in the FH gene are also associated with MCUL1 and the recessive fumarate hydratase deficiency |
| Genotype/Phenotype correlations
|
expression of cutaneous manifestations ranges from absent to mild to severe ; no genotype-phenotype correlations were identified. |