Immune thrombocytopenic purpura
General Information (adopted from Orphanet):
| Synonyms, Signs: |
IMMUNE THROMBOCYTOPENIC PURPURA IDIOPATHIC THROMBOCYTOPENIC PURPURA ITP AITP Immune thrombocytopenia Thrombocytopenic purpura, autoimmune |
| Number of Symptoms | 4 |
| OrphanetNr: | 3002 |
| OMIM Id: |
188030
|
| ICD-10: |
D69.3 |
| UMLs: |
C0398650 |
| MeSH: |
D016553 |
| MedDRA: |
10021245 |
| Snomed: |
234490009 |
Prevalence, inheritance and age of onset:
| Prevalence: | 25 of 100 000 [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autoimmune thrombocytopenia
-Rare hematologic disease |
Symptom Information:
|
|
(HPO:0001892) | Abnormal bleeding | 85 / 7739 | ||||
|
|
(HPO:0001873) | Thrombocytopenia | 224 / 7739 | ||||
|
|
(HPO:0003454) | Platelet antibody positive | 4 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
Autoimmune thrombocytopenic purpura is characterized by a low platelet count, normal bone marrow, and the absence of other causes of thrombocytopenia. It is principally a disorder of increased platelet destruction mediated by autoantibodies to platelet-membrane antigens (George et ... |
| Clinical Description OMIM |
In children, AITP is usually acute and self-limited, whereas in adults, it is most often chronic. The presenting features are bruising, petechiae, and/or mucosal bleeding (epistaxis, hematuria, and rarely intracerebral hemorrhage) (George et al., 1994). Cines ... |
| Molecular genetics OMIM | Breunis et al. (2008) found that an ORF allele of the FCGR2C gene (612169) was significantly overrepresented in patients with autoimmune thrombocytopenic purpura, with 34% of AITP patients having at least 1 ORF allele. |