eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hemangioma-thrombocytopenia syndrome | ||||
| Disease ID | 1417 |
|---|---|
| Disease | hemangioma-thrombocytopenia syndrome |
| Definition | Rapidly growing vascular lesion along the midline axis of the neck, upper trunk, and extremities that is characterized by CONSUMPTION COAGULOPATHY; THROMBOCYTOPENIA; and HEMOLYTIC ANEMIA. It is often associated with infantile Kaposiform HEMANGIOENDOTHELIOMA and other vascular tumors such as tufted ANGIOMA. |
| Synonym | haemangioma-haemorrhage syndrome haemangiomatosis with thrombocytopenia hemangioma thrombocytopenia syndrome hemangioma thrombocytopenia syndromes hemangioma-hemorrhage syndrome hemangiomatosis with thrombocytopenia kasabach merrit syndrome kasabach merritt phenomenon kasabach merritt syndrome kasabach-merritt phenomenon kasabach-merritt syndrome kasabach-merritt syndrome (disorder) kasabach-merritt syndrome [disease/finding] kms phenomenon, kasabach-merritt syndrome, hemangioma thrombocytopenia syndrome, kasabach-merritt syndrome, thrombocytopenia-hemangioma syndromes, hemangioma thrombocytopenia syndromes, thrombocytopenia-hemangioma thrombocytopenia hemangioma syndrome thrombocytopenia-haemangioma syndrome thrombocytopenia-hemangioma syndrome thrombocytopenia-hemangioma syndromes thrombopenia-hemangioma syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0221025 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:13) C0018916 | hemangioma | 8 C0238246 | hepatic hemangioma | 4 C0018916 | hemangiomas | 3 C0018916 | angioma | 3 C0009492 | compartment syndrome | 1 C0345907 | hepatic angiosarcoma | 1 C0012739 | disseminated intravascular coagulation | 1 C0040034 | thrombocytopenia | 1 C0012739 | disseminated intravascular coagulation (dic) | 1 C0030312 | pancytopenia | 1 C0018920 | cavernous hemangioma | 1 C1333817 | giant hemangioma | 1 C0022739 | klippel-trenaunay-weber syndrome | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1417 |
|---|---|
| Disease | hemangioma-thrombocytopenia syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:5) HP:0001937 | Microangiopathic hemolytic anemia HP:0001028 | Strawberry mark HP:0001873 | Low platelet count HP:0004308 | Ventricular arrhythmia HP:0002153 | Elevated serum potassium levels |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:11) HP:0001028 | Strawberry mark | 8 HP:0012329 | Angioblastoma | 4 HP:0002664 | Neoplasia | 3 HP:0200058 | Angiosarcoma | 2 HP:0000329 | Facial hemangiomata | 1 HP:0001873 | Low platelet count | 1 HP:0005521 | Disseminated intravascular coagulation | 1 HP:0005306 | Capillary hemangioma | 1 HP:0001048 | Cavernous angioma | 1 HP:0001876 | Low blood cell count | 1 HP:0002617 | Aneurysmal dilatation | 1 |
| Disease ID | 1417 |
|---|---|
| Disease | hemangioma-thrombocytopenia syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:5) C0018916 | hemangioma | 8 C0018915 | hemangioendothelioma | 4 C0238246 | hepatic hemangioma | 4 C0018916 | hemangiomas | 2 C0085666 | capillary hemangioma | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0004308 | Ventricular arrhythmia | MP:0004122 | abnormal sinus arrhythmia | any anomaly in the normal phenomenon of mild acceleration and slowing of the heart rate that occurs during the respiratory cycle |
| HP:0001937 | Microangiopathic hemolytic anemia | MP:0004828 | decreased susceptibility to autoimmune hemolytic anemia | reduced likelihood that an organism will develop an abnormality of the immune system that destroys red blood cells (hemolysis) prematurely |
Mapped by homologous gene(Total Items:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0004308 | Ventricular arrhythmia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002153 | Hyperkalemia | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0001873 | Thrombocytopenia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001937 | Microangiopathic hemolytic anemia | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0001028 | Hemangioma | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| Disease ID | 1417 |
|---|---|
| Disease | hemangioma-thrombocytopenia syndrome |
| Case | (Waiting for update.) |