ORPHA:3287
Takayasu arteritis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult
- Status
- active
A rare predominantly large-vessel vasculitis that is characterized by affected aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Takayasu arteritis | |
| fr | Artérite de Takayasu | |
| de | Takayasu-Arteriitis | |
| es | Arteritis de Takayasu | Enfermedad de Takayasu |
| it | Arterite di Takayasu | |
| nl | Takayasu-arteriitis | |
| pt | Arterite de Takayasu | |
| pl | Zapalenie tętnic Takayasu | |
| cs | Takayasuova arteriitida | |
| uk | Артеріїт Такаясу | |
| zh | Takayasu大动脉炎 | |
| tr | Takayasu arteriti |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 207600 | E | validated | |
| ICD-10 | M31.4 | E | specific | validated |
| ICD-11 | 4A44.1 | E | specific | validated |
| MONDO | 0017991 | E | validated | |
| MeSH | D013625 | E | validated | |
| UMLS | C0039263 | E | validated | |
| GARD | 7730 | E | validated | |
| MedDRA | 10043097 | 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 (3):
- ORPHA:156140Predominantly large-vessel vasculitis
rare systemic and rheumatological diseases; rare circulatory system diseases - ORPHA:280369Rare pediatric vasculitis
rare systemic or rheumatologic diseases of childhood - ORPHA:567560Systemic vasculitis associated with glomerulopathy
rare renal diseases; rare transplant-related disorders
No children.
4
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HLA-B | Major susceptibility factor in | Assessed | HGNC:4932 | ENSG00000234745 | 142830 | 6p21.33 | major histocompatibility complex, class I, B | 23830516[PMID]_23830507[PMID] |
| IL12B | Major susceptibility factor in | Assessed | HGNC:5970 | ENSG00000113302 | 161561 | 5q33.3 | interleukin 12B | 23830516[PMID]_23830507[PMID] |
| MLX | Major susceptibility factor in | Assessed | HGNC:11645 | ENSG00000108788 | 602976 | 17q21.2 | MAX dimerization protein MLX | 23830516[PMID]_23830507[PMID] |
5
Prevalence and incidence
21 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.084 / 100 000 | Europe | Value and class | Validated | ORPHANET_27159262[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.34 / 100 000 | Europe | Value and class | Validated | ORPHANET_27159262[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.06 / 100 000 | United Kingdom | Value and class | Validated | ORPHANET_19542212[PMID] |
| Point prevalence | 1-9 / 100 000 | 4 / 100 000 | Japan | Value and class | Validated | 9119531[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.1 / 100 000 | Sweden | Value and class | Validated | ORPHANET_6133485[PMID]_25774057[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.98 / 100 000 | Sweden | Value and class | Validated | ORPHANET_6133485[PMID]_25774057[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.47 / 100 000 | United Kingdom | Value and class | Validated | 19542212[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.04 / 100 000 | Denmark | Value and class | Validated | 21385546[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Annual incidence | <1 / 1 000 000 | 0.07 / 100 000 | Germany | Value and class | Not yet validated | 15696553[PMID]_ORPHANET |
| Point prevalence | 1-9 / 1 000 000 | 0.78 / 100 000 | Kuwait | Value and class | Validated | 7563255[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.15 / 100 000 | Japan | Value and class | Not yet validated | 1360971[PMID]_ORPHANET |
| Annual incidence | 1-9 / 1 000 000 | 0.13 / 100 000 | Lithuania | Value and class | Validated | 15647446[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.22 / 100 000 | Kuwait | Value and class | Validated | 7563255[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.26 / 100 000 | United States | Value and class | Validated | 2858047[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.15 / 100 000 | Norway | Value and class | Validated | 27159262[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.56 / 100 000 | Norway | Value and class | Validated | 27159262[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.82 / 100 000 | Korea, Republic of | Value and class | Validated | 28283361[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.24 / 100 000 | Korea, Republic of | Value and class | Validated | 28283361[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.46 / 100 000 | Poland | Value and class | Validated | 30260188[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.092 / 100 000 | Poland | Value and class | Validated | 30260188[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
54 annotations · validated 2024-04-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001654 | Abnormal heart valve morphology | |
| HP:0100545 | Arterial stenosis | |
| HP:0012089 | Arteritis | |
| HP:0002617 | Dilatation | |
| HP:0012378 | Fatigue | |
| HP:0001945 | Fever | |
| HP:0100735 | Hypertensive crisis | |
| HP:0002633 | Vasculitis | |
| HP:0001824 | Weight loss | |
| Frequent (79-30%) | ||
| HP:0001646 | Abnormal aortic valve morphology | |
| HP:0032554 | Absent pulse | |
| HP:0001903 | Anemia | |
| HP:0002039 | Anorexia | |
| HP:0001369 | Arthritis | |
| HP:0004970 | Ascending tubular aorta aneurysm | |
| HP:6000945 | Asymmetric blood pressure between arms | |
| HP:0020141 | Blood pressure substantially higher in legs than arms | |
| HP:6000944 | Carotidynia | |
| HP:0100749 | Chest pain | |
| HP:0003565 | Elevated erythrocyte sedimentation rate | |
| HP:0100758 | Gangrene | |
| HP:0002315 | Headache | |
| HP:0000822 | Hypertension | |
| HP:0012649 | Increased inflammatory response | |
| HP:0004417 | Intermittent claudication | |
| HP:0002076 | Migraine | |
| HP:0001324 | Muscle weakness | |
| HP:0003326 | Myalgia | |
| HP:0001658 | Myocardial infarction | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0001920 | Renal artery stenosis | |
| HP:0001250 | Seizure | |
| HP:0200042 | Skin ulcer | |
| Occasional (29-5%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0004306 | Abnormality of the endocardium | |
| HP:0100576 | Amaurosis fugax | |
| HP:0001659 | Aortic regurgitation | |
| HP:0002829 | Arthralgia | |
| HP:0002637 | Cerebral ischemia | |
| HP:0001635 | Congestive heart failure | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0002094 | Dyspnea | |
| HP:0011227 | Elevated circulating C-reactive protein concentration | |
| HP:0012219 | Erythema nodosum | |
| HP:0005244 | Gastrointestinal infarctions | |
| HP:0002105 | Hemoptysis | |
| HP:0033834 | Malaise | |
| HP:0030166 | Night sweats | |
| HP:0004372 | Reduced consciousness | |
| HP:0000488 | Retinopathy | |
| HP:0001297 | Stroke | |
| HP:0002326 | Transient ischemic attack | |
| HP:0002321 | Vertigo | |
| HP:0000505 | Visual impairment | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 29083666[PMID]_37525862[PMID]_34907753[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3287
- This record as JSON: /data/d/3287.json