ORPHA:892
Von Hippel-Lindau disease
Synonyms: Familial cerebelloretinal angiomatosis · Lindau disease · VHL · Von Hippel-Lindau syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma/paraganglioma.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Von Hippel-Lindau disease | Familial cerebelloretinal angiomatosis · Lindau disease · VHL · Von Hippel-Lindau syndrome |
| fr | Maladie de von Hippel-Lindau | Angiomatose cérébellorétinienne de von Hippel-Lindau · Angiomatose cérébellorétinienne familiale · Angiomatose rétinocérébelleuse de von Hippel-Lindau · Maladie de Lindau · VHL |
| de | Von-Hippel-Lindau-Krankheit | Retino-zerebelläre Angiomatose, familiäre · VHL · Von-Hippel-Lindau-Syndrom |
| es | Enfermedad de Von Hippel-Lindau | Angiomatosis cerebelo-retiniana familiar · Angiomatosis cerebelorretiniana familiar · Enfermedad de Lindau · Síndrome de Von Hippel-Lindau · VHL |
| it | Malattia di von Hippel-Lindau | Angiomatosi cerebello-retinica familiare · Angiomatosi cerebelloretinica familiare · Malattia di Hippel-Lindau · Malattia di Lindau · Sindrome di von Hippel-Lindau · VHL |
| nl | Ziekte van von Hippel-Lindau | Familiale cerebello-retinale angiomatose · Syndroom van von Hippel-Lindau · VHL · Ziekte van Lindau |
| pt | Doença de von Hippel-Lindau | |
| pl | Choroba von Hippel'a i Lindau'a | Choroba Hippel'a i Lindau'a · Choroba Lindau'a · Rodzinna naczyniakowatość siatkówkowo-móżdżkowa · VHL · Zespół von Hippel'a i Lindau'a |
| cs | Von Hippelova-Lindauova choroba | Familiární cerebeloretinální angiomatóza · Lindauova nemoc · VHL · Von Hippelův-Lindauův syndrom · Von Hippel-Lindauova choroba · Von Hippel-Lindauův syndrom |
| uk | Хвороба фон Гіппеля-Ліндау | Сімейний мозочково-сітківковий ангіоматоз · Хвороба Ліндау · VHL · Синдром фон Гіппеля-Ліндау |
| zh | Von Hippel-Lindau病 | 家族性小脑视网膜血管瘤病 |
| tr | Von Hippel-Lindau hastalığı | VHL · Lindau hastalığı · Von Hippel-Lindau sendromu · Ailesel serebelloretinal anjiyomatoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 193300 | E | validated | |
| ICD-10 | Q85.8 | NTBT | inclusion | validated |
| ICD-11 | 5A75 | NTBT | index | validated |
| MONDO | 0008667 | E | validated | |
| MeSH | D006623 | E | validated | |
| UMLS | C0019562 | E | validated | |
| GARD | 7855 | E | validated | |
| MedDRA | 10047716 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (10):
- ORPHA:100091Adrenal/paraganglial tumor
rare endocrine diseases; rare neoplastic diseases - ORPHA:183503Genetic central nervous system and retinal vascular disease
rare genetic diseases - ORPHA:93587Genetic cystic renal disease
rare genetic diseases; rare renal diseases - ORPHA:252190Inherited nervous system cancer-predisposing syndrome
rare neurological diseases - ORPHA:319328Inherited renal cancer-predisposing syndrome
rare genetic diseases; rare renal diseases; rare neoplastic diseases - ORPHA:98196Malformation syndrome with hamartosis
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:100094Multiple polyglandular tumor
rare genetic diseases; rare endocrine diseases; rare neoplastic diseases - ORPHA:71281Rare central nervous system and retinal vascular disease
rare neurological diseases - ORPHA:98638Rare disease with glaucoma as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:156162Renal ciliopathy
rare genetic diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| VHL | Disease-causing germline mutation(s) in | Assessed | HGNC:12687 | ENSG00000134086 | 608537 | 3p25.3 | von Hippel-Lindau tumor suppressor | |
| CCND1 | Modifying germline mutation in | Assessed | HGNC:1582 | ENSG00000110092 | 168461 | 11q13.3 | cyclin D1 | 12097293[PMID] |
5
Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2.3 / 100 000 | United Kingdom | Value and class | Validated | 20082463[PMID]_[EXPERT] |
| Point prevalence | 1-9 / 100 000 | 1.1 / 100 000 | United Kingdom | Value and class | Validated | 20082463[PMID]_[EXPERT] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | 2.13 / 100 000 | Denmark | Value and class | Validated | 27966541[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.66 / 100 000 | Denmark | Value and class | Validated | 27966541[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.
6
HPO phenotypes
41 annotations · validated 2020-03-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000478 | Abnormality of the eye | |
| Frequent (79-30%) | ||
| HP:0006748 | Adrenal pheochromocytoma | |
| HP:0006880 | Cerebellar hemangioblastoma | |
| HP:0011976 | Elevated urinary catecholamines | |
| HP:0000822 | Hypertension | |
| HP:0005584 | Renal cell carcinoma | |
| HP:0009711 | Retinal capillary hemangioma | |
| Occasional (29-5%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0005162 | Abnormal left ventricular function | |
| HP:0000739 | Anxiety | |
| HP:0011675 | Arrhythmia | |
| HP:0003418 | Back pain | |
| HP:0001638 | Cardiomyopathy | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0003334 | Elevated circulating catecholamine level | |
| HP:0030393 | Endolymphatic sac tumor | |
| HP:0002315 | Headache | |
| HP:0000975 | Hyperhidrosis | |
| HP:0001095 | Hypertensive retinopathy | |
| HP:0009763 | Limb pain | |
| HP:0040049 | Macular edema | |
| HP:0005562 | Multiple renal cysts | |
| HP:0000980 | Pallor | |
| HP:0001962 | Palpitations | |
| HP:0001737 | Pancreatic cysts | |
| HP:0030405 | Pancreatic endocrine tumor | |
| HP:0008261 | Pancreatic islet cell adenoma | |
| HP:0009715 | Papillary cystadenoma of the epididymis | |
| HP:0001085 | Papilledema | |
| HP:0001297 | Stroke | |
| HP:0003484 | Upper limb muscle weakness | |
| HP:0002321 | Vertigo | |
| HP:0000572 | Visual loss | |
| Very rare (<4-1%) | ||
| HP:0030424 | Epididymal cyst | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0001658 | Myocardial infarction | |
| HP:0012819 | Myocarditis | |
| HP:0002894 | Neoplasm of the pancreas | |
| HP:0002668 | Paraganglioma | |
| HP:0001901 | Polycythemia | |
| HP:0000541 | Retinal detachment | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 25834951[PMID]_30578515[PMID]_26279462[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/892
- This record as JSON: /data/d/892.json