Thrombotic thrombocytopenic purpura
Synonyms: Moschcowitz disease · TTP
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive, Multigenic/multifactorial
- Age of onset
- All ages
- Status
- active
An aggressive and life-threatening form of thrombotic microangiopathy (TMA) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and organ failure of variable severity and is comprised of a congenital (cTTP) and acquired, immune-mediated (iTTP) form.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Thrombotic thrombocytopenic purpura | Moschcowitz disease · TTP |
| fr | Purpura thrombotique thrombocytopénique | Maladie de Moschcowitz · PTT |
| de | Purpura, thrombotische thrombozytopenische | Moschcowitz-Krankheit · TTP |
| es | Púrpura trombótica trombocitopénica | |
| it | Porpora trombotica trombocitopenica | |
| nl | Trombotische trombocytopenische purpura | TTP · Ziekte van Moschcowitz |
| pt | Púrpura trombocitopénica trombótica | |
| pl | Zakrzepowa plamica małopłytkowa | Choroba Moschcowitza · TTP |
| cs | Trombotická trombocytopenická purpura | TTP · Moschcowitzův syndrom |
| uk | Тромботична тромбоцитопенічна пурпура | Хвороба Мошковіца · TTP |
| zh | 血栓性血小板减少性紫癜 | Moschcowitz病 |
| tr | Trombotik trombositopenik purpura | TTP · Moschcowitz hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 274150 | BTNT | validated | |
| ICD-10 | M31.1 | NTBT | inclusion | validated |
| ICD-11 | 3B64.14 | E | specific | validated |
| MONDO | 0018896 | E | validated | |
| MeSH | D011697 | E | validated | |
| UMLS | C0034155 | E | validated | |
| MedDRA | 10043648 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders - ORPHA:248368Rare thrombotic disorder due to a platelet anomaly
rare hematological diseases - ORPHA:93573Thrombotic microangiopathy
rare renal diseases
Genes
0 direct · 1 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| ADAMTS13 | ORPHA:93583Congenital thrombotic thrombocytopenic purpura | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1366 | ENSG00000160323 | 604134 | 9q34.2 | ADAM metallopeptidase with thrombospondin type 1 motif 13 | 25587650[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Annual incidence | 1-9 / 1 000 000 | 0.35 / 100 000 | Worldwide | Value and class | Validated | 18637802[PMID]_23729372[PMID]_31730475[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.
HPO phenotypes
22 annotations · validated 2017-05-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002094 | Dyspnea | |
| HP:0003324 | Generalized muscle weakness | |
| HP:0001937 | Microangiopathic hemolytic anemia | |
| HP:0001923 | Reticulocytosis | |
| HP:0001873 | Thrombocytopenia | |
| Frequent (79-30%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0045040 | Abnormal lactate dehydrogenase activity | |
| HP:0001259 | Coma | |
| HP:0001289 | Confusion | |
| HP:0002014 | Diarrhea | |
| HP:0002315 | Headache | |
| HP:0001250 | Seizure | |
| HP:0001297 | Stroke | |
| Occasional (29-5%) | ||
| HP:0000707 | Abnormality of the nervous system | |
| HP:0011675 | Arrhythmia | |
| HP:0001945 | Fever | |
| HP:0000790 | Hematuria | |
| HP:0001658 | Myocardial infarction | |
| HP:0000093 | Proteinuria | |
| HP:0000083 | Renal insufficiency | |
| Very rare (<4-1%) | ||
| HP:0001919 | Acute kidney injury | |
| HP:0012101 | Decreased serum creatinine | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 28416507[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/54057
- This record as JSON: /data/d/54057.json