loading...| Preferred Name |
HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER |
|
| Synonyms |
HLRCC MCUL1 MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENAL CELL CARCINOMA LEIOMYOMA, MULTIPLE CUTANEOUS MCL LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY LRCC |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/150800 |
|
| altLabel |
HLRCC MCUL1 MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENAL CELL CARCINOMA LEIOMYOMA, MULTIPLE CUTANEOUS MCL LEIOMYOMATOSIS AND RENAL CELL CANCER, HEREDITARY LRCC |
|
| cui |
C1708350 |
|
| Gene Locus |
1q42.1 |
|
| Gene Symbol |
FMRD HLRCC FH MCUL1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU067250 http://purl.bioontology.org/ontology/OMIM/MTHU073461 http://purl.bioontology.org/ontology/OMIM/MTHU036902 http://purl.bioontology.org/ontology/OMIM/MTHU004301 http://purl.bioontology.org/ontology/OMIM/MTHU004302 http://purl.bioontology.org/ontology/OMIM/MTHU067249 http://purl.bioontology.org/ontology/OMIM/MTHU004309 http://purl.bioontology.org/ontology/OMIM/MTHU036903 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
605839 |
|
| notation |
150800 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER |
|
| Scope Statement |
Cutaneous leiomyomas increase in number over time [MISCELLANEOUS] Caused by mutation in the fumarate hydratase gene (FH, 136850.0003) [MOLECULAR BASIS] Incomplete penetrance [MISCELLANEOUS] Mean age of diagnosis of uterine leiomyomas is 30 years [MISCELLANEOUS] Mean age of diagnosis of renal cell carcinoma is 46 years [MISCELLANEOUS] Highly variable phenotype [MISCELLANEOUS] |
|
| tui |
T191 |