ORPHA:900
Granulomatosis with polyangiitis
Synonyms: GPA · Wegener granulomatosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood, Elderly
- Status
- active
A rare anti-neutrophil cytoplasmic antibodies (ANCA)-associated vasculitis characterized by necrotizing inflammation of small and medium vessels (capillaries, venules and arterioles), resulting in tissue ischemia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Granulomatosis with polyangiitis | GPA · Wegener granulomatosis |
| fr | Granulomatose avec polyangéite | GPA · Granulomatose de Wegener · Maladie de Wegener |
| de | Granulomatose mit Polyangiitis | Wegener-Granulomatose · GPA |
| es | Granulomatosis con poliangeítis | GPA · Granulomatosis de Wegener |
| it | Granulomatosi con poliangioite | GPA · Granulomatosi di Wegener |
| nl | Granulomatose met polyangiitis | GPA · Wegener-granulomatose |
| pt | Granulomatose com poliangeíte | Granulomatose de Wegener |
| pl | Ziarniniakowatość z zapaleniem naczyń | GPA · Ziarniniak Wegenera |
| cs | Granulomatóza s polyangiitidou | GPA · Wegenerova granulomatóza |
| uk | Гранулематоз з поліангіїтом | GPA |
| zh | 肉芽肿性血管炎 | GPA |
| tr | Polyangiitli granülomatoz | GPA |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608710 | E | validated | |
| ICD-10 | M31.3 | E | specific | validated |
| ICD-11 | 4A44.A1 | E | specific | validated |
| MONDO | 0012105 | E | validated | |
| MeSH | D014890 | E | validated | |
| UMLS | C3495801 | E | validated | |
| GARD | 7880 | E | validated | |
| MedDRA | 10072579 | 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 (4):
- ORPHA:156152Anti-neutrophil cytoplasmic antibody-associated vasculitis
rare respiratory diseases; rare systemic and rheumatological diseases; rare circulatory system diseases; rare systemic or rheumatologic diseases of childhood; rare transplant-related disorders - ORPHA:166484Inflammatory and autoimmune disease with epilepsy
rare neurological diseases - ORPHA:209007Systemic inflammatory disease associated with an acquired peripheral neuropathy
rare neurological diseases - ORPHA:567560Systemic vasculitis associated with glomerulopathy
rare renal diseases; rare transplant-related disorders
No children.
4
Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CTLA4 | Major susceptibility factor in | Assessed | HGNC:2505 | ENSG00000163599 | 123890 | 2q33.2 | cytotoxic T-lymphocyte associated protein 4 | 22508400[PMID] |
| HLA-DPA1 | Major susceptibility factor in | Assessed | HGNC:4938 | ENSG00000231389 | 142880 | 6p21.32 | major histocompatibility complex, class II, DP alpha 1 | 28029757[PMID] |
| HLA-DPB1 | Major susceptibility factor in | Assessed | HGNC:4940 | ENSG00000223865 | 142858 | 6p21.32 | major histocompatibility complex, class II, DP beta 1 | 23740775[PMID] |
| PRTN3 | Major susceptibility factor in | Assessed | HGNC:9495 | ENSG00000196415 | 177020 | 19p13.3 | proteinase 3 | 22808956[PMID] |
| PTPN22 | Major susceptibility factor in | Assessed | HGNC:9652 | ENSG00000134242 | 600716 | 1p13.2 | protein tyrosine phosphatase non-receptor type 22 | 22508400[PMID]_22696186[PMID] |
5
Prevalence and incidence
25 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 9.35 / 100 000 | New Zealand | Value and class | Validated | 16368729[PMID]_25805746[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.93 / 100 000 | Finland | Value and class | Validated | 18799060[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.85 / 100 000 | Europe | Value and class | Validated | 16859601[PMID] |
| Point prevalence | 1-9 / 100 000 | 9 / 100 000 | Europe | Value and class | Validated | 16859601[PMID] |
| Annual incidence | 1-9 / 100 000 | 1 / 100 000 | United Kingdom | Value and class | Validated | 10693883[PMID]_11156552[PMID]_22258386[PMID]_19790134[PMID] |
| Point prevalence | 1-5 / 10 000 | 16 / 100 000 | Sweden | Value and class | Validated | 17553910[PMID]_25805746[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.86 / 100 000 | Germany | Value and class | Validated | 15696553[PMID]_25805746[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.37 / 100 000 | France | Value and class | Validated | 14872461[PMID]_25805746[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.19 / 100 000 | Sweden | Value and class | Validated | 16960922[PMID]_25805746[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.49 / 100 000 | Spain | Value and class | Validated | 11156552[PMID] |
| Point prevalence | 1-9 / 100 000 | 9.51 / 100 000 | Norway | Value and class | Validated | 11083271[PMID]_25805746[PMID] |
| Annual incidence | 1-9 / 100 000 | 1 / 100 000 | Norway | Value and class | Validated | 11760724[PMID]_11083271[PMID]_ ORPHANET |
| Point prevalence | 1-9 / 100 000 | 9.5 / 100 000 | Australia | Value and class | Validated | 18771432[PMID]_25805746[PMID] |
| Point prevalence | 1-9 / 100 000 | 2.6 / 100 000 | United States | Value and class | Validated | 8546743[PMID] |
| Point prevalence | 1-9 / 100 000 | 1.94 / 100 000 | China | Value and class | Validated | 26989646[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.21 / 100 000 | Lithuania | Value and class | Validated | 15647446[PMID]_25805746[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.66 / 100 000 | Greece | Value and class | Validated | 19604432[PMID]_25805746[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.24 / 100 000 | Italy | Value and class | Validated | 24932888[PMID]_25805746[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.46 / 100 000 | Canada | Value and class | Validated | 23838025[PMID]_25805746[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.21 / 100 000 | Japan | Value and class | Validated | 21798892[PMID]_25805746[PMID] |
| Annual incidence | <1 / 1 000 000 | 0.037 / 100 000 | Taiwan, Province of China | Value and class | Validated | 24560699[PMID]_25805746[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.23 / 100 000 | Japan | Value and class | Validated | 17699321[PMID]_25805746[PMID] |
| Point prevalence | 1-9 / 100 000 | 3.43 / 100 000 | Italy | Value and class | Validated | 24932888[PMID]_25805746[PMID] |
| Point prevalence | 1-5 / 10 000 | 10 / 100 000 | Denmark | Value and class | Validated | 17582741[PMID]_25805746[PMID] |
| Annual incidence | 1-9 / 100 000 | 1.3 / 100 000 | United States | Value and class | Validated | 28881446[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
80 annotations · validated 2024-10-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000163 | Abnormal oral cavity morphology | |
| HP:0000366 | Abnormality of the nose | |
| HP:0002829 | Arthralgia | |
| HP:0002960 | Autoimmunity | |
| HP:0002637 | Cerebral ischemia | |
| HP:0000421 | Epistaxis | |
| HP:0012378 | Fatigue | |
| HP:0001945 | Fever | |
| HP:0100820 | Glomerulopathy | |
| HP:0002955 | Granulomatosis | |
| HP:0000790 | Hematuria | |
| HP:0000388 | Otitis media | |
| HP:0002113 | Pulmonary infiltrates | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000246 | Sinusitis | |
| HP:0002633 | Vasculitis | |
| HP:0001824 | Weight loss | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | |
| HP:0033559 | Anti-myeloperoxidase antibody positivity | |
| HP:0034104 | Anti-neutrophil elastase antibody positivity | |
| HP:0033557 | Anti-proteinase 3 antibody positivity | |
| HP:0001369 | Arthritis | |
| HP:0100749 | Chest pain | |
| HP:0006510 | Chronic pulmonary obstruction | |
| HP:0012735 | Cough | |
| HP:0032230 | Cytoplasmic antineutrophil antibody positivity | |
| HP:0011227 | Elevated circulating C-reactive protein concentration | |
| HP:0003565 | Elevated erythrocyte sedimentation rate | |
| HP:0000099 | Glomerulonephritis | |
| HP:0002105 | Hemoptysis | |
| HP:0012649 | Increased inflammatory response | |
| HP:0100533 | Inflammatory abnormality of the eye | |
| HP:0000579 | Nasolacrimal duct obstruction | |
| HP:0002017 | Nausea and vomiting | |
| HP:0200034 | Papule | |
| HP:0100539 | Periorbital edema | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0005764 | Polyarticular arthritis | |
| HP:0000093 | Proteinuria | |
| HP:0002206 | Pulmonary fibrosis | |
| HP:0006535 | Recurrent intrapulmonary hemorrhage | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0100532 | Scleritis | |
| HP:0000988 | Skin rash | |
| Occasional (29-5%) | ||
| HP:0001681 | Angina pectoris | |
| HP:0011675 | Arrhythmia | |
| HP:0000389 | Chronic otitis media | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0000873 | Diabetes insipidus | |
| HP:0025420 | Diffuse alveolar hemorrhage | |
| HP:0100758 | Gangrene | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0002315 | Headache | |
| HP:0002301 | Hemiplegia | |
| HP:0000126 | Hydronephrosis | |
| HP:0000822 | Hypertension | |
| HP:0005214 | Intestinal obstruction | |
| HP:0000491 | Keratitis | |
| HP:0001287 | Meningitis | |
| HP:0003326 | Myalgia | |
| HP:0001733 | Pancreatitis | |
| HP:0001701 | Pericarditis | |
| HP:0002202 | Pleural effusion | |
| HP:0002102 | Pleuritis | |
| HP:0000520 | Proptosis | |
| HP:0000024 | Prostatitis | |
| HP:0033608 | Pulmonary nodule | |
| HP:0000979 | Purpura | |
| HP:0000083 | Renal insufficiency | |
| HP:0002091 | Restrictive ventilatory defect | |
| HP:0000488 | Retinopathy | |
| HP:0001250 | Seizure | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000763 | Sensory neuropathy | |
| HP:0200042 | Skin ulcer | |
| HP:0001607 | Subglottic stenosis | |
| HP:0000071 | Ureteral stenosis | |
| HP:0004936 | Venous thrombosis | |
| HP:0000505 | Visual impairment | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 32491759[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/900
- This record as JSON: /data/d/900.json