KMP
MCID: HMN035
MIFTS: 39

Hemangioma-Thrombocytopenia Syndrome (KMP)

Categories: Blood diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Hemangioma-Thrombocytopenia Syndrome

MalaCards integrated aliases for Hemangioma-Thrombocytopenia Syndrome:

Name: Hemangioma-Thrombocytopenia Syndrome 57 58
Kasabach-Merritt Syndrome 57 58 29 54 70
Hemangioma Thrombocytopenia Syndrome 73 20
Thrombocytopenia-Hemangioma Syndrome 20
Kasabach-Merritt Syndrome; Kms 57
Kasabach Merritt Phenomenon 20
Kasabach Merritt Syndrome 20
Kms 57
Kmp 20

Characteristics:

Orphanet epidemiological data:

58
kasabach-merritt syndrome
Inheritance: Not applicable; Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
hemangioma-thrombocytopenia syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


Summaries for Hemangioma-Thrombocytopenia Syndrome

GARD : 20 Hemangioma thrombocytopenia syndrome is characterized by profound thrombocytopenia in association with two rare vascular tumors : kaposiform hemangioendotheliomas and tufted angiomas. The profound thrombocytopenia can cause life threatening bleeding and progress to a disseminated coagulopathy in patients with these tumors. The condition typically occurs in early infancy or childhood, although prenatal cases (diagnosed with the aid of ultrasonography ), newborn presentations, and rare adult cases have been reported.

MalaCards based summary : Hemangioma-Thrombocytopenia Syndrome, also known as kasabach-merritt syndrome, is related to kabuki syndrome 1 and angioma, tufted. An important gene associated with Hemangioma-Thrombocytopenia Syndrome is IFNA2 (Interferon Alpha 2). The drugs Clotrimazole and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and spleen, and related phenotypes are thrombocytopenia and hypofibrinogenemia

Wikipedia : 73 Kasabach-Merritt syndrome, also known as hemangioma with thrombocytopenia is a rare disease, usually of... more...

More information from OMIM: 141000

Related Diseases for Hemangioma-Thrombocytopenia Syndrome

Diseases related to Hemangioma-Thrombocytopenia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 109)
# Related Disease Score Top Affiliating Genes
1 kabuki syndrome 1 11.5
2 angioma, tufted 11.4
3 hypogonadotropic hypogonadism 1 with or without anosmia 11.1
4 hemangioendothelioma 10.8
5 disseminated intravascular coagulation 10.8
6 giant hemangioma 10.8
7 kaposiform hemangioendothelioma 10.8
8 angiosarcoma 10.7
9 hemangioma of liver 10.7
10 cavernous hemangioma 10.7
11 lymphangioma 10.5
12 purpura 10.5
13 breast angiosarcoma 10.5
14 splenomegaly 10.4
15 hydrops fetalis, nonimmune 10.3
16 lymphatic malformation 7 10.3
17 capillary hemangioma 10.3
18 congestive heart failure 10.3
19 angiosarcoma of the scalp 10.3
20 lymphangiomatosis 10.3
21 rare lymphatic malformation 10.3
22 kala-azar 1 10.3
23 leishmaniasis 10.3
24 posttransplant acute limbic encephalitis 10.3
25 thrombocytopenia 10.3
26 hemangioma 10.3
27 chagas disease 10.3
28 pre-eclampsia 10.3
29 arteriovenous malformation 10.3
30 neutropenia 10.3
31 hemangioma of spleen 10.3
32 bilirubin metabolic disorder 10.3
33 angiomatosis 10.3
34 rare vascular tumor 10.3
35 immune hydrops fetalis 10.3
36 congenital hemangioma 10.3
37 myeloma, multiple 10.2
38 carbonic anhydrase va deficiency, hyperammonemia due to 10.2
39 gastrointestinal stromal tumor 10.2
40 exanthem 10.2
41 hereditary lymphedema i 10.2
42 japanese encephalitis 10.2
43 respiratory failure 10.2
44 duodenal obstruction 10.2
45 liver cirrhosis 10.2
46 intestinal obstruction 10.2
47 encephalitis 10.2
48 aphthous stomatitis 10.2
49 chronic pain 10.2
50 rare tumor 10.2

Graphical network of the top 20 diseases related to Hemangioma-Thrombocytopenia Syndrome:



Diseases related to Hemangioma-Thrombocytopenia Syndrome

Symptoms & Phenotypes for Hemangioma-Thrombocytopenia Syndrome

Human phenotypes related to Hemangioma-Thrombocytopenia Syndrome:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thrombocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001873
2 hypofibrinogenemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011900
3 petechiae 58 31 frequent (33%) Frequent (79-30%) HP:0000967
4 capillary hemangioma 58 31 frequent (33%) Frequent (79-30%) HP:0005306
5 tufted angioma 58 31 frequent (33%) Frequent (79-30%) HP:0012329
6 hyperhidrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000975
7 neutropenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001875
8 prolonged prothrombin time 58 31 occasional (7.5%) Occasional (29-5%) HP:0008151
9 leukopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001882
10 microangiopathic hemolytic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001937
11 hepatic hemangioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0031207
12 chronic disseminated intravascular coagulation 58 31 occasional (7.5%) Occasional (29-5%) HP:0005520
13 abnormal lymphatic vessel morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0100766
14 abdominal pain 58 31 very rare (1%) Very rare (<4-1%) HP:0002027
15 neoplasm of the skin 58 31 very rare (1%) Very rare (<4-1%) HP:0008069
16 reticulocytosis 58 31 very rare (1%) Very rare (<4-1%) HP:0001923
17 respiratory distress 58 31 very rare (1%) Very rare (<4-1%) HP:0002098
18 abdominal distention 58 31 very rare (1%) Very rare (<4-1%) HP:0003270
19 hypertrichosis 58 31 very rare (1%) Very rare (<4-1%) HP:0000998
20 hypopnea 58 31 very rare (1%) Very rare (<4-1%) HP:0040213
21 hemangioma 58 31 Very frequent (99-80%) HP:0001028
22 anemia 58 Occasional (29-5%)
23 purpura 58 Frequent (79-30%)
24 hyperkalemia 31 HP:0002153
25 ventricular arrhythmia 31 HP:0004308

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Heme:
thrombocytopenia
microangiopathic hemolytic anemia

Skin:
giant hemangiomas

Lab:
hyperkalemia
red cell changes compatible with trauma

Cardiac:
hyperkalemic ventricular arrhythmia

Clinical features from OMIM®:

141000 (Updated 20-May-2021)

Drugs & Therapeutics for Hemangioma-Thrombocytopenia Syndrome

Drugs for Hemangioma-Thrombocytopenia Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
2
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030
4
tannic acid Approved Phase 4 1401-55-4
5
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
6
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
7 Immunosuppressive Agents Phase 4
8 Anti-Bacterial Agents Phase 4
9 Antibiotics, Antitubercular Phase 4
10 Antifungal Agents Phase 4
11 Anti-Infective Agents Phase 4
12 Immunologic Factors Phase 4
13 Calcineurin Inhibitors Phase 4
14
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
15
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
16
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
17
Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
18
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
19
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
20
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
21 Hormones Phase 2
22 Methylprednisolone Acetate Phase 2
23 glucocorticoids Phase 2
24 Hormone Antagonists Phase 2
25 Antineoplastic Agents, Hormonal Phase 2
26 Anti-Inflammatory Agents Phase 2
27 Antimitotic Agents Phase 2
28 Tubulin Modulators Phase 2
29
Prednisone Approved, Vet_approved Phase 1 53-03-2 5865

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Guided Discontinuation Versus Maintenance Treatment of Sirolimus in Pediatric Patients With Kaposiform Hemangioendothelioma: a Randomized Controlled Trial Recruiting NCT04448873 Phase 4 Sirolimus
2 Safety and Efficacy of Low-dose Sirolimus to Kaposiform Hemangioendothelioma:A Prospective, Randomized Open Trial Recruiting NCT04077515 Phase 4 Sirolimus(0.8mg/m2);Sirolimus(0.7mg/m2)
3 Tacrolimus for the Treatment of Superficial Kaposiform Hemangioendothelioma and Tufted Angioma: a Single Arm Prospective Study Recruiting NCT04056962 Phase 4 Tacrolimus ointment
4 Efficacy and Safety of Different Concentrations of Sirolimus in the Treatment of Kaposiform Hemangioendothelioma. Recruiting NCT04775173 Phase 3 Sirolimus
5 Sirolimus Versus Sirolimus Plus Prednisolone for Kaposiform Hemangioendothelioma With Kasabach-Merritt Syndrome Recruiting NCT03188068 Phase 2 Sirolimus;Prednisolone
6 A Randomized Phase 2 Study of Vincristine Versus Sirolimus to Treat High Risk Kaposiform Hemangioendothelioma (KHE). Active, not recruiting NCT02110069 Phase 2 Vincristine;Sirolimus
7 A Clinical Study on the Treatment of Kaposiform Hemangioendothelioma (KHE) With Kasabach-Merritt Phenomenon (KMP) by Hormone Shock and Sirolimus Maintenance Not yet recruiting NCT04409691 Phase 1 prednison and Sirolimus;prednison

Search NIH Clinical Center for Hemangioma-Thrombocytopenia Syndrome

Genetic Tests for Hemangioma-Thrombocytopenia Syndrome

Genetic tests related to Hemangioma-Thrombocytopenia Syndrome:

# Genetic test Affiliating Genes
1 Kasabach-Merritt Syndrome 29

Anatomical Context for Hemangioma-Thrombocytopenia Syndrome

MalaCards organs/tissues related to Hemangioma-Thrombocytopenia Syndrome:

40
Liver, Heart, Spleen, Breast, Bone, Thymus, Colon

Publications for Hemangioma-Thrombocytopenia Syndrome

Articles related to Hemangioma-Thrombocytopenia Syndrome:

(show top 50) (show all 492)
# Title Authors PMID Year
1
Treatment of the Kasabach-Merritt syndrome with pegylated recombinant human megakaryocyte growth and development factor in mice: elevated platelet counts, prolonged survival, and tumor growth inhibition. 61 57
10541319 1999
2
Kasabach-Merritt syndrome: a case review. 57 61
9526357 1998
3
Infants with Kasabach-Merritt syndrome do not have "true" hemangiomas. 57 61
9108863 1997
4
Malignant ventricular arrhythmias caused by hyperkalaemia complicating the Kasabach-Merritt syndrome. 61 57
3357160 1988
5
Kasabach-Merritt syndrome: therapeutic considerations. 57 61
3108848 1987
6
Haemangioma with thrombocytopenia (Kasabach-Merritt syndrome). 57 61
6660888 1983
7
Consumption--coagulopathy in Kasabach-Merritt syndrome. 57 61
5534090 1970
8
Hemangioma-thrombocytopenia syndrome associated with microangiopathic hemolytic anemia. 61 57
5950934 1966
9
Splenic hemangioma with thrombocytopenia in a newborn. 57
3588149 1987
10
Giant hemangioma with thrombocytopenia. Radioisotopic demonstration of platelet sequestration. 57
5844148 1965
11
Spindle cell (Kaposiform) hemangioendothelioma with Kasabach-Merritt syndrome in an infant: successful treatment with alpha-2A interferon. 54 61
9121401 1997
12
Interferon alpha-2a therapy of consumptive coagulopathy in Kasabach-Merritt syndrome. 54 61
1473549 1992
13
[Propranolol treatment in Kasabach-Merritt Syndrome secondary to congenital hepatic hemangioma. Clinical case]. 61
33458995 2021
14
An angiosarcoma in the breast associated with Kasabach-Merritt syndrome: Breast Images. 61
33049800 2021
15
A case of neonate effectively treated with everolimus for giant hepatic hemangioma complicated with congenital duodenal atresia and Kasabach-Merritt syndrome. 61
33325401 2020
16
Kasabach-Merritt Syndrome. 61
33248667 2020
17
Massive liver haemangioma causing Kasabach-Merritt syndrome in an adult. 61
32538112 2020
18
Diffuse infiltrative hemangioma of pancreas accompanied by Kasabach-Merritt Syndrome: A case report. 61
32826612 2020
19
Successful management of a pregnant woman with Kasabach-Merritt syndrome and preeclampsia: A case report. 61
32664166 2020
20
Diffuse bone and soft tissue angiomatosis with GNAQ mutation. 61
32314513 2020
21
Kaposiform Hemangioendothelioma in the Thoracic Spine: A Case Report and Review of the Literature. 61
32699767 2020
22
Tufted angioma with Kasabach-Merritt syndrome: Two cases successfully treated with everolimus. 61
32275095 2020
23
Erratum: Kasabach-Merritt syndrome with large cutaneous vascular tumors. 61
32581455 2020
24
Diffused hepatic angiosarcoma with Kasabach-Merritt syndrome-case report and literature review. 61
32228471 2020
25
Kasabach-Merritt Syndrome in an Adult 61
31117331 2020
26
Bone Marrow Langerhans Cell Histiocytosis in Association with Kasabach-Merritt Syndrome: The Difficulty of a Differential Diagnosis. 61
32355498 2020
27
Successful treatment of a patient with Kasabach-Merritt syndrome and multiple giant hepatic hemangiomas. 61
31948308 2020
28
Giant Liver Hemangioma with Kasabach-Merritt Syndrome. 61
31299176 2020
29
Giant Liver Hemangiomas: A Plea for Early Surgical Referral and Resection. 61
32607273 2020
30
Unexplained isolated acute severe thrombocytopenia after surgery for a recurrent malignant retroperitoneal tumor presenting with colon perforation: A case study of a disastrous complication. 61
32045860 2020
31
A Rare Presentation of Sudden Death due to Pulmonary Thromboembolism Possibly as a Result of Giant Hepatic Hemangioma. 61
31116429 2019
32
Hepatobiliary and Pancreatic: Kasabach-Merritt syndrome in adult. 61
31137080 2019
33
Kasabach-Merritt syndrome arising from a vascular fistula. 61
31003830 2019
34
Nonimmune hydrops fetalis: identifying the underlying genetic etiology. 61
30410095 2019
35
Successful treatment of cardiac haemangiomas with oral propranolol: a case series of two patients. 61
31449646 2019
36
Successful treatment of an adult with Kasabach-Merritt syndrome using thalidomide, vincristine, and prednisone. 61
30806107 2019
37
Liver Transplantation for Giant Hepatic Hemangioma: A Systematic Review. 61
30879561 2019
38
Kasabach-Merritt Syndrome in an Adult: A Comment 61
30345972 2019
39
[A case report of Kasabach-Merritt syndrome treated with vindesine sulfate]. 61
30704202 2019
40
A case of an elderly female with diffuse hepatic hemangiomatosis complicated with multiple organic dysfunction and Kasabach-Merritt syndrome. 61
29845554 2018
41
Kasabach-Merritt Syndrome in an Adult 61
29391339 2018
42
Coexistence of Kasabach-Merritt Syndrome and placental chorioangioma in a premature infant. 61
29991142 2018
43
Tufted angioma arising at the site of hepatitis B vaccination: A case report. 61
30325126 2018
44
Successful Management of Kaposiform Hemangioendothelioma with Long-Term Sirolimus Treatment: a Case Report and Review of the Literature. 61
30002799 2018
45
Successful combination therapy of propranolol and prednisolone for a case with congenital Kasabach-Merritt syndrome. 61
28771780 2017
46
Kasabach-Merritt syndrome combined with hypercalcemia: A case report. 61
29285174 2017
47
Extremely Giant Liver Hemangioma (50 cm) with Kasabach-Merritt Syndrome. 61
28424986 2017
48
Propranolol in the preoperative treatment of Kasabach-Merritt syndrome: a case report. 61
29073926 2017
49
[Refractory kaposiform hemangioendothelioma with Kasabach-Merritt syndrome: clinical analysis of 10 cases]. 61
28881518 2017
50
Giant liver hemangioma with adult Kasabach-Merritt syndrome: Case report and literature review. 61
28767598 2017

Variations for Hemangioma-Thrombocytopenia Syndrome

Expression for Hemangioma-Thrombocytopenia Syndrome

Search GEO for disease gene expression data for Hemangioma-Thrombocytopenia Syndrome.

Pathways for Hemangioma-Thrombocytopenia Syndrome

GO Terms for Hemangioma-Thrombocytopenia Syndrome

Sources for Hemangioma-Thrombocytopenia Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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