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| References | OMIM | Gene | GeneReviews | HGMD | HGNC |
| GENATLAS PHENOTYPE |
| last update : 7/07/2006 |
| Symbol | HLRCC |
| Location | 1q42.1 |
| Name | hereditary leiomyomatosis |
| Corresponding gene | FH |
| Other symbol(s) | LRCC |
| Main clinical features |
|
| Genetic determination | autosomal dominant |
| Related entries | . MCUL1, FHD |
| Function/system disorder | kidney and urinary tract |
| sex-genitalia | |
| neoplasia | |
| Type | susceptibility factor |
| Gene product |
| Name | fumarate hydratase catalyses the conversion of fumarate to malate in the Krebs cycle |
| Mechanism(s) |
| 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. |