Kasabach-Merritt phenomenon
Synonyms: Haemangioma-thrombocytopenia syndrome · Hemangioma-thrombocytopenia syndrome
- Type
- Particular clinical situation in a disease or syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare hemorrhagic disorder characterized by potentially life-threatening thrombocytopenia, microangiopathic hemolytic anemia, and consumptive coagulopathy in the context of kaposiform hemangioendothelioma or tufted angioma.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Kasabach-Merritt phenomenon | Haemangioma-thrombocytopenia syndrome · Hemangioma-thrombocytopenia syndrome |
| fr | Phénomène de Kasabach-Merritt | Syndrome d'hémangiome-thrombocytopénie |
| de | Kasabach-Merritt-Phänomen | Kasabach-Merritt-Syndrom · Hämangiom-Thrombozytopenie-Syndrom |
| es | Fenómeno de Kasabach-Merritt | Síndrome de hemangioma-trombocitopenia |
| it | Fenomeno di Kasabach-Merritt | Sindrome emangioma-trombocitopenia |
| nl | Fenomeen van Kasabach-Merritt | Hemangioom - trombocytopenie-syndroom |
| pt | Fenómeno Kasabach-Merritt | Síndrome de hemangioma-trombocitopenia |
| pl | Zespół Kasabacha i Merritta | Zespół hemangioma-trombocytopenia |
| cs | Kasabachův-Merittové syndrom | Syndrom zahrnující hemangiom a trombocytopenii · Kasabach-Merittové syndrom |
| uk | Феномен Касабаха-Мерріта | Синдром гемангіоми-тромбоцитопенії |
| zh | 卡梅综合征 | 血管瘤-血小板减少综合征 |
| tr | Kasabach-Merritt sendromu | Hemanjiyom-trombositopeni sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 141000 | E | validated | |
| ICD-10 | D18.0 | NTBT | attributed | validated |
| ICD-11 | KA8Y | NTBT | index | validated |
| MONDO | 0007708 | E | validated | |
| MeSH | D059885 | E | validated | |
| UMLS | C0221025 | E | validated | |
| GARD | 70 | E | validated | |
| MedDRA | 10058423 | 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 (2):
- ORPHA:717582Coagulation abnormality associated with a vascular anomaly
rare developmental anomalies during embryogenesis; rare circulatory system diseases - ORPHA:248308Rare hemorrhagic disorder
rare hematological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 300 cases | Worldwide | Case(s) | Validated | ISBN-10: 0071354557[OTHER] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_ISBN-10: 0071354557[OTHER] |
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
23 annotations · validated 2019-05-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001028 | Hemangioma | |
| HP:0011900 | Hypofibrinogenemia | |
| HP:0001873 | Thrombocytopenia | |
| Frequent (79-30%) | ||
| HP:0005306 | Capillary hemangioma | |
| HP:0000967 | Petechiae | |
| HP:0000979 | Purpura | |
| HP:0012329 | Tufted angioma | |
| Occasional (29-5%) | ||
| HP:0100766 | Abnormal lymphatic vessel morphology | |
| HP:0001903 | Anemia | |
| HP:0005520 | Chronic disseminated intravascular coagulation | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0031207 | Hepatic hemangioma | |
| HP:0000975 | Hyperhidrosis | |
| HP:0001882 | Leukopenia | |
| HP:0001937 | Microangiopathic hemolytic anemia | |
| HP:0008151 | Prolonged prothrombin time | |
| Very rare (<4-1%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0002027 | Abdominal pain | |
| HP:0000998 | Hypertrichosis | |
| HP:0040213 | Hypopnea | |
| HP:0008069 | Neoplasm of the skin | |
| HP:0002098 | Respiratory distress | |
| HP:0001923 | Reticulocytosis | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 30085595[PMID]_28767598[PMID]_30096317[PMID]_9108863[PMID]_3588149[PMID]_3108848[PMID]_6660888[PMID]_5950934[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2330
- This record as JSON: /data/d/2330.json