Kasabach-Merritt syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
KASABACH-MERRITT SYNDROME KMS Hemangioma-thrombocytopenia syndrome |
| Number of Symptoms | 9 |
| OrphanetNr: | 2330 |
| OMIM Id: |
141000
|
| ICD-10: |
D18.0 |
| UMLs: |
C0221025 |
| MeSH: |
|
| MedDRA: |
10058423 |
| Snomed: |
86635005 |
Prevalence, inheritance and age of onset:
| Prevalence: | > 175 cases [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Vascular tumor
-Rare circulatory system disease -Rare developmental defect during embryogenesis |
Symptom Information:
|
|
(HPO:0001028) | Hemangioma | 23 / 7739 | ||||
|
|
(HPO:0004308) | Ventricular arrhythmia | 46 / 7739 | ||||
|
|
(HPO:0001873) | Thrombocytopenia | 224 / 7739 | ||||
|
|
(HPO:0001937) | Microangiopathic hemolytic anemia | 12 / 7739 | ||||
|
|
(HPO:0002153) | Hyperkalemia | 25 / 7739 | ||||
|
|
(OMIM) | Giant hemangiomas | 1 / 7739 | ||||
|
|
(OMIM) | Red cell changes compatible with trauma | 1 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(OMIM) | Hyperkalemic ventricular arrhythmia | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|