ORPHA:774
Hereditary hemorrhagic telangiectasia
Synonyms: HHT · Rendu-Osler disease · Rendu-Osler-Weber disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
An inherited disorder of angiogenesis characterized by mucocutaneous telangiectases and visceral arteriovenous malformations.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary hemorrhagic telangiectasia | HHT · Rendu-Osler disease · Rendu-Osler-Weber disease |
| fr | Télangiectasie hémorragique héréditaire | HHT · Maladie de Rendu-Osler · Maladie de Rendu-Osler-Weber |
| de | Hereditäre hämorrhagische Teleangiektasie | HHT · Morbus Osler · Osler-Rendu-Weber-Syndrom · Rendu-Osler-Weber-Krankheit |
| es | Telangiectasia hemorrágica hereditaria | Enfermedad de Rendu-Osler · Enfermedad de Rendu-Osler-Weber · HHT |
| it | Telangectasia emorragica ereditaria | HHT · Malattia di Rendu-Osler · Malattia di Rendu-Osler-Weber |
| nl | Erfelijke hemorragische teleangiëctasie | HHT · Ziekte van Rendu-Osler · Ziekte van Rendu-Osler-Weber |
| pt | Telangiectasia hemorrágica hereditária | Doença de Rendu-Osler-Weber |
| pl | Dziedziczna krwotoczna telangiektazja | Choroba Rendu i Oslera · Choroba Rendu, Oslera i Webera · HHT |
| cs | Hereditární hemoragická teleangiektázie | HHT · Renduova-Oslerova nemoc · Oslerova-Renduova-Weberova nemoc · Angiodysplastický syndrom, typ III · Rendu-Oslerova nemoc · Osler-Rendu-Weberova nemoc |
| uk | Спадкова геморагічна телеангіектазія | HHT · Хвороба Рендю-Ослера · Хвороба Рендю-Ослера-Вебера |
| zh | 遗传性出血性毛细血管扩张症 | Rendu-Osler-Weber病 |
| tr | Kalıtsal hemorajik telenjiektazi | HHT · Rendu-Osler hastalığı · Rendu-Osler-Weber hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 175050 | NTBT | validated | |
| OMIM | 187300 | BTNT | validated | |
| OMIM | 600376 | BTNT | validated | |
| OMIM | 610655 | BTNT | validated | |
| OMIM | 615506 | BTNT | validated | |
| ICD-10 | I78.0 | E | specific | validated |
| ICD-11 | LA90.00 | E | specific | validated |
| MONDO | 0019180 | E | validated | |
| MeSH | D013683 | E | validated | |
| UMLS | C0039445 | E | validated | |
| GARD | 6626 | E | validated | |
| MedDRA | 10019883 | 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 (13):
- ORPHA:371436Genetic neurovascular malformation
rare genetic diseases - ORPHA:183622Genetic respiratory malformation
rare genetic diseases - ORPHA:183478Genetic skin vascular disorder
rare genetic diseases - ORPHA:98196Malformation syndrome with hamartosis
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:719955Multifocal fast-flow vascular malformation
rare developmental anomalies during embryogenesis; rare circulatory system diseases - ORPHA:102006Neurovascular malformation
rare neurological diseases - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:98610Rare disorder with conjunctival involvement as a major feature
rare ophthalmic disorders - ORPHA:459526Rare genetic capillary malformation
rare genetic diseases - ORPHA:182222Rare systemic disease
rare systemic and rheumatological diseases - ORPHA:101938Rare vascular liver disease
rare hepatic diseases - ORPHA:182111Respiratory malformation
rare respiratory diseases - ORPHA:79379Skin vascular disease
rare skin diseases
No children.
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACVRL1 | Disease-causing germline mutation(s) in | Assessed | HGNC:175 | ENSG00000139567 | 601284 | 12q13.13 | activin A receptor like type 1 | 20301525[PMID] |
| ENG | Disease-causing germline mutation(s) in | Assessed | HGNC:3349 | ENSG00000106991 | 131195 | 9q34.11 | endoglin | 20301525[PMID] |
| GDF2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4217 | ENSG00000263761 | 605120 | 10q11.22 | growth differentiation factor 2 | 23972370[PMID] |
| SMAD4 | Disease-causing germline mutation(s) in | Assessed | HGNC:6770 | ENSG00000141646 | 600993 | 18q21.2 | SMAD family member 4 | 20301525[PMID] |
5
Prevalence and incidence
7 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 16 / 100 000 | Europe | Value and class | Validated | 30111344[PMID]_[EXPERT]_European Medicines Agency 2018[OTHER] |
| Point prevalence | 1-5 / 10 000 | 43.5 / 100 000 | France | Value and class | Validated | 12157905[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.5 / 100 000 | United Kingdom | Value and class | Validated | 1518020[PMID] |
| Point prevalence | 1-5 / 10 000 | 15.6 / 100 000 | Denmark | Value and class | Validated | 10095814[PMID] |
| Point prevalence | 1-5 / 10 000 | 16.25 / 100 000 | Japan | Value and class | Validated | 11793473[PMID]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | 6.1 / 100 000 | United States | Value and class | Validated | 7802026[PMID] |
| Point prevalence | 1-5 / 10 000 | 19.4 / 100 000 | Specific population | Value and class | Validated | 8242961[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
36 annotations · validated 2023-10-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000421 | Epistaxis | Diagnostic criterion |
| HP:0000214 | Lip telangiectasia | |
| HP:0100579 | Mucosal telangiectasiae | Diagnostic criterion |
| HP:0000434 | Nasal mucosa telangiectasia | |
| HP:0004406 | Spontaneous, recurrent epistaxis | Diagnostic criterion |
| HP:0001009 | Telangiectasia | Diagnostic criterion |
| HP:0100585 | Telangiectasia of the skin | |
| HP:0000227 | Tongue telangiectasia | |
| Frequent (79-30%) | ||
| HP:0011025 | Abnormality of cardiovascular system physiology | |
| HP:0001903 | Anemia | |
| HP:0100026 | Arteriovenous malformation | Diagnostic criterion |
| HP:0006574 | Hepatic arteriovenous malformation | |
| HP:0002076 | Migraine | |
| HP:0001409 | Portal hypertension | |
| HP:0006548 | Pulmonary arteriovenous malformation | |
| HP:0100761 | Visceral angiomatosis | |
| Occasional (29-5%) | ||
| HP:0100659 | Abnormality of the cerebral vasculature | |
| HP:0002408 | Cerebral arteriovenous malformation | |
| HP:0001342 | Cerebral hemorrhage | |
| HP:0001394 | Cirrhosis | |
| HP:0001635 | Congestive heart failure | |
| HP:0000524 | Conjunctival telangiectasia | |
| HP:0002040 | Esophageal varix | |
| HP:0002629 | Gastrointestinal arteriovenous malformation | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0002105 | Hemoptysis | |
| HP:0001399 | Hepatic failure | |
| HP:0200008 | Intestinal polyposis | |
| HP:0100784 | Peripheral arteriovenous fistula | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0002204 | Pulmonary embolism | |
| HP:0007763 | Retinal telangiectasia | |
| HP:0001250 | Seizure | |
| HP:0002138 | Subarachnoid hemorrhage | |
| HP:0002326 | Transient ischemic attack | |
| HP:0004936 | Venous thrombosis | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 20301525[PMID]_36079173[PMID]_35792874[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/774
- This record as JSON: /data/d/774.json