ORPHA:3002
Immune thrombocytopenia
Synonyms: ITP · Immune thrombocytopenic purpura
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare autoimmune coagulation disorder characterized by isolated thrombocytopenia (a platelet count <100,000/microL), in the absence of any underlying disorder that may be associated with thrombocytopenia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Immune thrombocytopenia | ITP · Immune thrombocytopenic purpura |
| fr | Thrombopénie immune | Purpura thrombopénique immunologique · TPI · Thrombocytopénie immune |
| de | Immunthrombozytopenie | ITP · Purpura, immune thrombozytopenische |
| es | Trombocitopenia inmune | ITP · PTI · Púrpura trombocitopénica inmune |
| it | Trombocitopenia immune | ITP · Porpora trombocitopenica autoimmune · Trombocitopenia immune |
| nl | Immuuntrombocytopenie | ITP · Immuuntrombocytopenische purpura |
| pt | Trombocitopénica imune | Púrpura trombocitopénica imune |
| pl | Pierwotna małopłytkowość immunologiczna | ITP · plamica małopłytkowa, autoimmunologiczna |
| cs | Idiopatická trombocytopenická purpura | ITP · Imunitní trombocytopenie · Autoimunitní trombocytopenická purpura |
| uk | Імунна тромбоцитопенія | Імунна тромбоцитопенічна пурпура · ITP |
| zh | 免疫性血小板减少症 | 免疫性血小板减少性紫癜 |
| tr | İmmün trombositopeni | ITP · İmmün trombositopenik purpura |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 188030 | E | validated | |
| ICD-10 | D69.3 | NTBT | attributed | validated |
| ICD-11 | 3B64.10 | E | specific | validated |
| MONDO | 0008558 | E | validated | |
| MeSH | D016553 | E | validated | |
| UMLS | C0398650 | E | validated | |
| GARD | 5194 | E | validated | |
| MedDRA | 10083842 | 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 (1):
- ORPHA:71203Autoimmune thrombocytopenia
rare hematological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FCGR2C | Candidate gene tested in | Not yet assessed | HGNC:15626 | ENSG00000244682 | 612169 | 1q23.3 | Fc gamma receptor IIc (gene/pseudogene) | 17827395[PMID] |
5
Prevalence and incidence
7 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 25 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2007[OTHER] |
| Point prevalence | 1-9 / 100 000 | 9.5 / 100 000 | United States | Value and class | Validated | 19200301[PMID] |
| Annual incidence | 1-9 / 100 000 | 3.9 / 100 000 | United Kingdom | Value and class | Validated | 19245432[PMID] |
| Annual incidence | 1-9 / 100 000 | 6.75 / 100 000 | Europe | Value and class | Not yet validated | ISBN:70703868[OTHER]_ORPHANET |
| Annual incidence | 1-9 / 100 000 | 2.68 / 100 000 | Denmark | Value and class | Validated | 10419881[PMID] |
| Point prevalence | 1-5 / 10 000 | 45 / 100 000 | Denmark | Value and class | Validated | 20066507[PMID] |
| Annual incidence | 1-9 / 100 000 | 2.9 / 100 000 | France | Value and class | Validated | 25305203[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
20 annotations · validated 2024-02-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001873 | Thrombocytopenia | |
| Frequent (79-30%) | ||
| HP:0025329 | Anti-glutamic acid decarboxylase antibody positivity | |
| HP:0034062 | Anti-insulin antibody positivity | |
| HP:0034063 | Anti-islet antigen-2 antibody positivity | |
| HP:4000170 | Anti-platelet antigen antibody positivity | |
| HP:0032069 | Anti-thyroglobulin antibody positivity | |
| HP:0025379 | Anti-thyroid peroxidase antibody positivity | |
| HP:0034189 | Anti-thyroid-stimulating hormone receptor antibody positivity | |
| HP:0004420 | Arterial thrombosis | |
| HP:0030908 | Liver kidney microsome type 1 antibody positivity | |
| HP:0000967 | Petechiae | |
| HP:0000979 | Purpura | |
| Occasional (29-5%) | ||
| HP:0034263 | Abnormal vaginal bleeding | |
| HP:0000978 | Bruising susceptibility | |
| HP:0000421 | Epistaxis | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0000225 | Gingival bleeding | |
| HP:0000790 | Hematuria | |
| Very rare (<4-1%) | ||
| HP:0001342 | Cerebral hemorrhage | |
| HP:0011885 | Hemorrhage of the eye | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 32965953[PMID]_30725925[PMID]_27817251[PMID]_27222699[PMID]_26869291[PMID]_26456477[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3002
- This record as JSON: /data/d/3002.json