ORPHA:397
Giant cell arteritis
Synonyms: Horton disease · Temporal arteritis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Adult
- Status
- active
A rare large vessel vasculitis (LVV) characterized by vasculitis predominantly involving the arteries originating from the aortic arch and the extracranial branches of the carotid arteries. Clinical manifestations are variable, the predominant cranial phenotype is characterized by headache, jaw claudication, scalp tenderness and visual symptoms and the predominant LVV type by constitutional symptoms, polymyalgia rheumatica and occasionally limb ischemia. Overlaps between these two phenotypes are common.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Giant cell arteritis | Horton disease · Temporal arteritis |
| fr | Artérite à cellules géantes | Artérite temporale · Maladie de Horton |
| de | Riesenzell-Arteriitis | Arteriitis temporalis · Horton-Krankheit |
| es | Arteritis de células gigantes | Arteritis temporal · Enfermedad de Horton |
| it | Arterite a cellule giganti | Arterite temporale · Malattia di Horton |
| nl | Reuscelarteriitis | Arteriitis temporalis · Temporale arteriitis · Ziekte van Horton |
| pt | Arterite de células gigantes | Arterite temporal · Doença de Horton |
| pl | Olbrzymiokomórkowe zapalenie tętnic | Choroba Hortona · Zapalenie tętnicy skroniowej |
| cs | Obrovskobuněčná arteriitida | Hortonova nemoc · Temporální arteriitida · Hortonova choroba |
| uk | Гігантоклітинний артеріїт | Хвороба Хортона · Скроневий артеріїт |
| zh | 巨细胞动脉周围炎 | 颞动脉炎 |
| tr | Dev hücreli arterit | Horton hastalığı · Temporal arterit |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 187360 | E | validated | |
| ICD-10 | M31.6 | NTBT | attributed | validated |
| ICD-11 | 4A44.2 | E | specific | validated |
| MONDO | 0008538 | E | validated | |
| MeSH | D013700 | E | validated | |
| UMLS | C0039483 | E | validated | |
| GARD | 9615 | E | validated | |
| MedDRA | 10018250 | 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 (2):
- ORPHA:156140Predominantly large-vessel vasculitis
rare systemic and rheumatological diseases; rare circulatory system diseases - ORPHA:567560Systemic vasculitis associated with glomerulopathy
rare renal diseases; rare transplant-related disorders
No children.
4
Genes
4 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 | 33734973[PMID] |
| HLA-DRB1 | Major susceptibility factor in | Assessed | HGNC:4948 | ENSG00000196126 | 142857 | 6p21.32 | major histocompatibility complex, class II, DR beta 1 | 26223536[PMID] |
| P4HA2 | Major susceptibility factor in | Assessed | HGNC:8547 | ENSG00000072682 | 600608 | 5q31.1 | prolyl 4-hydroxylase subunit alpha 2 | 28041642[PMID] |
| PTPN22 | Major susceptibility factor in | Assessed | HGNC:9652 | ENSG00000134242 | 600716 | 1p13.2 | protein tyrosine phosphatase non-receptor type 22 | 23946333[PMID] |
5
Prevalence and incidence
8 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 8.9 / 100 000 | Germany | Value and class | Validated | 11136884[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.35 / 100 000 | United States | Value and class | Validated | 6626279[PMID] |
| Annual incidence | 1-9 / 100 000 | 2.8 / 100 000 | Italy | Value and class | Validated | 2003856[PMID] |
| Annual incidence | 1-9 / 100 000 | 7.7 / 100 000 | Sweden | Value and class | Validated | 10587547[PMID] |
| Annual incidence | 1-5 / 10 000 | 11.2 / 100 000 | United Kingdom | Value and class | Validated | 25132663[PMID] |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only | Validated | ORPHANET |
| Point prevalence | 1-5 / 10 000 | 30.4 / 100 000 | Italy | Value and class | Validated | 27214746[PMID] |
| Annual incidence | 1-5 / 10 000 | 16.8 / 100 000 | Norway | Value and class | Validated | 31909871[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
73 annotations · validated 2026-02-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002039 | Anorexia | |
| HP:0002637 | Cerebral ischemia | |
| HP:0011227 | Elevated circulating C-reactive protein concentration | |
| HP:0012378 | Fatigue | |
| HP:0001945 | Fever | |
| HP:0002315 | Headache | |
| HP:0005216 | Impaired mastication | |
| HP:0001387 | Joint stiffness | |
| HP:0002633 | Vasculitis | |
| HP:0001824 | Weight loss | |
| Frequent (79-30%) | ||
| HP:0030972 | Abnormal systemic blood pressure | |
| HP:0001596 | Alopecia | |
| HP:0001903 | Anemia | |
| HP:0001369 | Arthritis | |
| HP:0000622 | Blurred vision | |
| HP:6000944 | Carotidynia | |
| HP:0000716 | Depression | |
| HP:6000502 | Elevated circulating calprotectin concentration | |
| HP:0033123 | Elevated circulating osteopontin level | |
| HP:0003565 | Elevated erythrocyte sedimentation rate | |
| HP:0011899 | Hyperfibrinogenemia | |
| HP:0005413 | Increased alpha-globulin | |
| HP:0030783 | Increased circulating interleukin 6 concentration | |
| HP:0030164 | Jaw claudication | |
| HP:0033834 | Malaise | |
| HP:0000597 | Ophthalmoparesis | |
| HP:0005764 | Polyarticular arthritis | |
| HP:0000505 | Visual impairment | |
| Occasional (29-5%) | ||
| HP:0005112 | Abdominal aortic aneurysm | |
| HP:0002027 | Abdominal pain | |
| HP:0002103 | Abnormality of the pleura | |
| HP:0001872 | Abnormality of thrombocytes | |
| HP:6000786 | Absent superficial temporal artery pulse | |
| HP:0100576 | Amaurosis fugax | |
| HP:0002647 | Aortic dissection | |
| HP:0011675 | Arrhythmia | |
| HP:0004420 | Arterial thrombosis | |
| HP:0002829 | Arthralgia | |
| HP:0001251 | Ataxia | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0012735 | Cough | |
| HP:0000873 | Diabetes insipidus | |
| HP:0000651 | Diplopia | |
| HP:0011658 | Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis | |
| HP:0001260 | Dysarthria | |
| HP:0000421 | Epistaxis | |
| HP:0100758 | Gangrene | |
| HP:0005244 | Gastrointestinal infarctions | |
| HP:0000206 | Glossitis | |
| HP:0000365 | Hearing impairment | |
| HP:0000790 | Hematuria | |
| HP:0001399 | Hepatic failure | |
| HP:0000975 | Hyperhidrosis | |
| HP:0100721 | Mediastinal lymphadenopathy | |
| HP:0001287 | Meningitis | |
| HP:0001324 | Muscle weakness | |
| HP:0003326 | Myalgia | |
| HP:0031246 | Nonproductive cough | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0003401 | Paresthesia | |
| HP:0001701 | Pericarditis | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0000508 | Ptosis | |
| HP:0100776 | Recurrent pharyngitis | |
| HP:0000083 | Renal insufficiency | |
| HP:0100809 | Scalp tenderness | |
| HP:0200042 | Skin ulcer | |
| HP:0001645 | Sudden cardiac death | |
| HP:0002321 | Vertigo | |
| HP:0001123 | Visual field defect | |
| HP:0002367 | Visual hallucinations | |
| HP:0000572 | Visual loss | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 40731213[PMID]_30385998[PMID]_37021621[PMID]_36344353[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/397
- This record as JSON: /data/d/397.json