ORPHA:523
Hereditary leiomyomatosis and renal cell cancer
Synonyms: Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri · Familial leiomyomatosis with renal carcinoma · Familial multiple cutaneous leiomyomas · HLRCC · Hereditary leiomyomatosis · Hereditary leiomyomatosis with renal carcinoma · Hereditary multiple cutaneous leiomyomas · MCUL · Multiple cutaneous and uterine leiomyomas · Reed syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Elderly
- Status
- active
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary leiomyomatosis and renal cell cancer | Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri · Familial leiomyomatosis with renal carcinoma · Familial multiple cutaneous leiomyomas · HLRCC · Hereditary leiomyomatosis · Hereditary leiomyomatosis with renal carcinoma · Hereditary multiple cutaneous leiomyomas · MCUL · Multiple cutaneous and uterine leiomyomas · Reed syndrome |
| fr | Léiomyomatose familiale et cancer du rein | HLRCC · Leiomyomes cutanés multiples familiaux · Leiomyomes cutanés multiples héréditaires · Léiomyomatose héréditaire · Léiomyomes cutanés et utérins multiples · MCUL · Syndrome de Reed · Syndrome de léiomyomatose héréditaire-cancer du rein |
| de | Hereditäre Leiomyomatose mit Nierenzellkrebs | Familiäre Leiomyomatose mit renalem Karzinom · Familiäre multiple kutane Leiomyome · HLRCC · Hereditäre multiple kutane Leiomyome · Leiomyomatose, hereditäre · Leiomyome, kutane multiple, familiäre Form · MCUL · Multiple Leiomyome, kutane und uterine · Reed-Syndrom |
| es | Leiomiomatosis hereditaria y carcinoma de células renales | HLRCC · Leiomiomas cutáneos múltiples familiares · Leiomiomas cutáneos múltiples hereditarios · Leiomiomas cutáneos y uterinos múltiples · Leiomiomatosis familiar con carcinoma renal · Leiomiomatosis familiar con cáncer de células renales · Leiomiomatosis familiar cutánea y uterina · Leiomiomatosis hereditaria · Leiomiomatosis hereditaria con carcinoma renal · MCUL · Síndrome de Reed |
| it | Leiomiomatosi ereditaria e tumore a cellule renali | HLRCC · Leimiomi uterini e cutanei multipli · Leiomiomatosi cutanea e uterina familiare · Leiomiomatosi ereditaria · Leiomiomatosi ereditaria con cancro a cellule renali · Leiomiomatosi familiare con cancro a cellule renali · Leiomiomatosi familiare con carcinoma renale · Leiomiomatosi familiare e cancro a cellule renali · Leiomiomi cutanei multipli ereditari · Leiomiomi cutanei multipli familiari · MCUL · Sindrome di Reed |
| nl | Erfelijke leiomyomatose en niercelkanker | Erfelijke leiomyomatose · Erfelijke leiomyomatose en renale celkanker · Erfelijke leiomyomatose met niercarcinoom · Erfelijke leiomyomatose met niercelkanker · Erfelijke meervoudige cutane leiomyomen · Familiale leiomyomatose cutis et uteri · Familiale leiomyomatose met niercarcinoom · Familiale leiomyomatose met niercelkanker · Familiale meervoudige cutane leiomyomen · HLRCC · MCUL · Meervoudige cutane en uteriene leiomyomen · Syndroom van Reed |
| pt | Leiomiomatose hereditária e cancro das células renais | Leiomiomas cutâneos múltiplos, familiar · Leiomiomatose familiar |
| pl | Dziedziczna leiomiomatoza z rakiem komórkowym nerki | Dziedziczna leiomiomatoza z rakiem nerki · Dziedziczne mnogie mięśniaki gładkokomórkowe skóry · HLRCC · Leiomiomatoza dziedziczna · MCUL · Mnogie mięśniaki gładkokomórkowe skóry i macicy · Rodzinna leiomiomatoza skóry i macicy · Rodzinna leiomiomatoza z rakiem komórkowym nerki · Rodzinna leiomiomatoza z rakiem nerki · Rodzinne mnogie mięśniaki gładkokomórkowe skóry · Zespół Reed |
| cs | Hereditární leiomyomatóza a renální nádor | Familiární leiomyomatóza a renální nádor · Familiární leiomyomatóza s renálním karcinomem · HLRCC · Hereditární leiomyomatóza · Hereditární leiomyomatóza s renálním karcinomem · MCUL · Familiární kožní a děložní leiomyomatóza · Familiární mnohočetná kožní leiomyomatóza · Hereditární mnohočetná kožní leiomyomatóza · Mnohočetná kožní a děložní leiomyomatóza · Reedův syndrom |
| uk | Спадковий лейоміоматоз та нирковоклітинний рак | Сімейний лейоміоматоз та нирковоклітинний рак · Сімейний лейоміоматоз шкірних покривів та матки · Сімейний лейоміоматоз з карциномою нирки · Сімейні множинні шкірні лейоміоми · Спадковий лейоміоматоз · Спадковий лейоміоматоз з карциномою нирки · Спадкові множинні шкірні лейоміоми · HLRCC · MCUL · Множинні шкірні та маткові лейоміоми · Синдром Ріда |
| zh | 遗传性肌瘤病及肾细胞癌综合征 | 遗传性肌瘤病伴肾细胞癌 |
| tr | Kalıtsal leiomyomatoz ve renal hücre kanseri | MCUL · HLRCC · Reed sendromu · Kalıtsal leiomyomatoz · Ailesel leiomyomatozis kutis ve uteri · Ailesel çoklu kutanöz leiomyomlar · Kalıtsal çoklu kutanöz leiomyomlar · Çoklu kutanöz ve uterin leiomyomlar · Renal karsinomlu ailesel leiomyomatoz · Ailesel leiomyomatoz ve renal hücre kanseri · Renal karsinomlu kalıtsal leiomyomatoz |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 150800 | E | validated | |
| ICD-10 | C64 | NTBT | attributed | validated |
| ICD-11 | 2C90.Y | NTBT | index | validated |
| MONDO | 0007888 | E | validated | |
| MeSH | C535516 | E | validated | |
| UMLS | C1708350 | E | validated | |
| GARD | 10096 | E | validated | |
| MedDRA | 10077859 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:183487Genetic skin tumor or hamartoma
rare genetic diseases - ORPHA:589746Inherited gynecological cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:319328Inherited renal cancer-predisposing syndrome
rare genetic diseases; rare renal diseases; rare neoplastic diseases - ORPHA:79386Rare skin tumor or hamartoma
rare skin diseases; rare neoplastic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FH | Disease-causing germline mutation(s) in | Assessed | HGNC:3700 | ENSG00000091483 | 136850 | 1q43 | fumarate hydratase | 15937070[PMID]_21398687[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 200 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003011 | Abnormality of the musculature | |
| HP:0007620 | Cutaneous leiomyoma | |
| HP:0007437 | Multiple cutaneous leiomyomas | |
| Frequent (79-30%) | ||
| HP:0000989 | Pruritus | |
| Occasional (29-5%) | ||
| HP:0100580 | Barrett esophagus | |
| HP:0000518 | Cataract | |
| HP:0100751 | Esophageal neoplasm | |
| HP:0006732 | Papillary renal cell carcinoma type 2 | |
| HP:0000131 | Uterine leiomyoma | |
| HP:0002891 | Uterine leiomyosarcoma | |
| HP:0100650 | Vaginal neoplasm | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/523
- This record as JSON: /data/d/523.json