Cystic hamartoma of lung and kidney
historical
Synonyms: Graham-Boyle-Troxell syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy
- Status
- historical
Cystic hamartoma of lung and kidney is a rare developmental malformation reported in 3 patients characterized by the presence of benign hamartomatous cysts in kidney and lung, clinically presenting as abdominal mass. Others associated features include hyperplastic nephromegaly, medullary dysplasia and mesoblastic nephroma. There have been no further descriptions in the literature since 1987.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cystic hamartoma of lung and kidney | Graham-Boyle-Troxell syndrome |
| fr | Hamartomatose kystique du poumon et du rein | Syndrome de Graham-Boyle-Troxell |
| de | Zystisches Hamartom der Lunge und Nieren | |
| es | Hamartomatosis quística de pulmón y riñón | Síndrome de Graham-Boyle-Troxell |
| it | Amartomatosi cistica polmone-rene | Sindrome di Graham-Boyle-Troxell |
| nl | Cystisch hamartoom van long en nier | Syndroom van Graham-Boyle-Troxell |
| pt | Hamartoma quístico do pulmão e rim | Síndrome Graham-Boyle-Troxell |
| pl | Hamartoma torbielowata płuc i nerki | Zespół Grahama, Boyle'a i Troxella |
| cs | Cystický hamartom plic a ledviny | Grahamův-Boyleův-Troxellův syndrom · Graham-Boyle-Troxellův syndrom |
| uk | Кістозна гамартома легень та нирок | Синдром Грехема-Бойла-Трокселла |
| zh | 肺和肾囊性错构瘤 | Graham-Boyle-Troxell综合征 |
| tr | Akciğer ve böbreğin kistik hamartomu | Graham-Boyle-Troxell sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q85.8 | NTBT | attributed | validated |
| ICD-11 | 2F00.Y | NTBT | index | validated |
| MONDO | 0023275 | E | validated | |
| MeSH | C537292 | E | validated | |
| UMLS | C2931468 | E | validated | |
| GARD | 2557 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:93619Rare renal tumor
rare renal diseases; rare neoplastic diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare renal diseases; rare transplant-related disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 3605206[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3605206[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000822 | Hypertension | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0002206 | Pulmonary fibrosis | |
| Frequent (79-30%) | ||
| HP:0002205 | Recurrent respiratory infections | |
| HP:0002093 | Respiratory insufficiency | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2111
- This record as JSON: /data/d/2111.json