KMP
MCID: HMN035
MIFTS: 41

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 56 58
Kasabach-Merritt Syndrome 56 58 29 54 71
Hemangioma Thrombocytopenia Syndrome 74 52
Thrombocytopenia-Hemangioma Syndrome 52
Kasabach-Merritt Syndrome; Kms 56
Kasabach Merritt Phenomenon 52
Kasabach Merritt Syndrome 52
Kms 56
Kmp 52

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
hemangioma-thrombocytopenia syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


Summaries for Hemangioma-Thrombocytopenia Syndrome

NIH Rare Diseases : 52 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 Sirolimus and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and bone, and related phenotypes are thrombocytopenia and hypofibrinogenemia

Wikipedia : 74 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 293)
# Related Disease Score Top Affiliating Genes
1 kabuki syndrome 1 12.3
2 angioma, tufted 12.0
3 hypogonadotropic hypogonadism 1 with or without anosmia 11.4
4 hemangioendothelioma 11.0
5 disseminated intravascular coagulation 11.0
6 giant hemangioma 11.0
7 kaposiform hemangioendothelioma 10.9
8 angiosarcoma 10.8
9 cavernous hemangioma 10.8
10 hemangioma of liver 10.8
11 breast angiosarcoma 10.6
12 purpura 10.6
13 congestive heart failure 10.6
14 splenomegaly 10.6
15 hydrops fetalis, nonimmune 10.5
16 lymphangioma 10.5
17 capillary hemangioma 10.5
18 angiosarcoma of the scalp 10.5
19 lymphangiomatosis 10.5
20 rare lymphatic malformation 10.5
21 arteriovenous malformation 10.4
22 neutropenia 10.4
23 hemangioma of spleen 10.4
24 angiomatosis 10.4
25 rare vascular tumor 10.4
26 immune hydrops fetalis 10.4
27 congenital hemangioma 10.4
28 posttransplant acute limbic encephalitis 10.4
29 thrombocytopenia 10.4
30 hemangioma 10.4
31 arteriovenous malformations of the brain 10.3
32 intussusception 10.3
33 kaposi sarcoma 10.3
34 klippel-trenaunay-weber syndrome 10.3
35 proteus syndrome 10.3
36 thrombocytopenic purpura, autoimmune 10.3
37 triiodothyronine receptor auxiliary protein 10.3
38 hemangiopericytoma, malignant 10.3
39 multiple enchondromatosis, maffucci type 10.3
40 aspiration pneumonia 10.3
41 purpura fulminans 10.3
42 pre-eclampsia 10.3
43 portal hypertension 10.3
44 hydrocephalus 10.3
45 nephrotic syndrome 10.3
46 blood coagulation disease 10.3
47 severe pre-eclampsia 10.3
48 cholestasis 10.3
49 obstructive jaundice 10.3
50 squamous cell papilloma 10.3

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 capillary hemangioma 58 31 frequent (33%) Frequent (79-30%) HP:0005306
4 petechiae 58 31 frequent (33%) Frequent (79-30%) HP:0000967
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 leukopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001882
9 prolonged prothrombin time 58 31 occasional (7.5%) Occasional (29-5%) HP:0008151
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 respiratory distress 58 31 very rare (1%) Very rare (<4-1%) HP:0002098
16 reticulocytosis 58 31 very rare (1%) Very rare (<4-1%) HP:0001923
17 neoplasm of the skin 58 31 very rare (1%) Very rare (<4-1%) HP:0008069
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:

56
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

Drugs & Therapeutics for Hemangioma-Thrombocytopenia Syndrome

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

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
2
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
3
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
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 Immunologic Factors Phase 4
8 Anti-Infective Agents Phase 4
9 Anti-Bacterial Agents Phase 4
10 Antibiotics, Antitubercular Phase 4
11 Antifungal Agents Phase 4
12 Immunosuppressive Agents Phase 4
13 Calcineurin Inhibitors Phase 4
14
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
15
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
16
Propranolol Approved, Investigational Phase 2 525-66-6 4946
17
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
18 Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
19
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
20
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
21
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
22 Gastrointestinal Agents Phase 2
23 Neurotransmitter Agents Phase 2
24 Anti-Arrhythmia Agents Phase 2
25 Antihypertensive Agents Phase 2
26 Antiemetics Phase 2
27 Methylprednisolone Acetate Phase 2
28 Adrenergic Antagonists Phase 2
29 Adrenergic beta-Antagonists Phase 2
30 Hormone Antagonists Phase 2
31 Vasodilator Agents Phase 2
32 Protective Agents Phase 2
33 Autonomic Agents Phase 2
34 Anti-Inflammatory Agents Phase 2
35 Neuroprotective Agents Phase 2
36 Antineoplastic Agents, Hormonal Phase 2
37 glucocorticoids Phase 2
38 Adrenergic Agents Phase 2
39 Hormones Phase 2
40 Antimitotic Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Tacrolimus for the Treatment of Superficial Kaposiform Hemangioendothelioma and Tufted Angioma: a Single Arm Prospective Study Recruiting NCT04056962 Phase 4 Tacrolimus ointment
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 Sirolimus Plus Propranolol Versus Sirolimus Plus Prednisolone for Kaposiform Hemangioendothelioma With Kasabach-Merritt Syndrome Recruiting NCT03188068 Phase 2 Sirolimus;Prednisolone;Propranolol
4 A Randomized Phase 2 Study of Vincristine Versus Sirolimus to Treat High Risk Kaposiform Hemangioendothelioma (KHE). Active, not recruiting NCT02110069 Phase 2 Vincristine;Sirolimus
5 International Registry for Vascular Anomalies Associated With Coagulopathy Completed NCT00576888

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, Bone, Breast, T Cells, Spleen, Skin

Publications for Hemangioma-Thrombocytopenia Syndrome

Articles related to Hemangioma-Thrombocytopenia Syndrome:

(show top 50) (show all 477)
# 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 56
10541319 1999
2
Kasabach-Merritt syndrome: a case review. 61 56
9526357 1998
3
Infants with Kasabach-Merritt syndrome do not have "true" hemangiomas. 61 56
9108863 1997
4
Malignant ventricular arrhythmias caused by hyperkalaemia complicating the Kasabach-Merritt syndrome. 61 56
3357160 1988
5
Kasabach-Merritt syndrome: therapeutic considerations. 61 56
3108848 1987
6
Haemangioma with thrombocytopenia (Kasabach-Merritt syndrome). 61 56
6660888 1983
7
Consumption--coagulopathy in Kasabach-Merritt syndrome. 61 56
5534090 1970
8
Hemangioma-thrombocytopenia syndrome associated with microangiopathic hemolytic anemia. 61 56
5950934 1966
9
Splenic hemangioma with thrombocytopenia in a newborn. 56
3588149 1987
10
Giant hemangioma with thrombocytopenia. Radioisotopic demonstration of platelet sequestration. 56
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
Giant Liver Hemangioma with Kasabach-Merritt Syndrome. 61
31299176 2020
14
Successful treatment of a patient with Kasabach-Merritt syndrome and multiple giant hepatic hemangiomas. 61
31948308 2020
15
A Rare Presentation of Sudden Death due to Pulmonary Thromboembolism Possibly as a Result of Giant Hepatic Hemangioma. 61
31116429 2019
16
Hepatobiliary and Pancreatic: Kasabach-Merritt syndrome in adult. 61
31137080 2019
17
Kasabach-Merritt syndrome arising from a vascular fistula. 61
31003830 2019
18
Successful treatment of cardiac haemangiomas with oral propranolol: a case series of two patients. 61
31449646 2019
19
Nonimmune hydrops fetalis: identifying the underlying genetic etiology. 61
30410095 2019
20
Kasabach-Merritt Syndrome in an Adult 61
31117331 2019
21
Successful treatment of an adult with Kasabach-Merritt syndrome using thalidomide, vincristine, and prednisone. 61
30806107 2019
22
Liver Transplantation for Giant Hepatic Hemangioma: A Systematic Review. 61
30879561 2019
23
[A case report of Kasabach-Merritt syndrome treated with vindesine sulfate]. 61
30704202 2019
24
Kasabach-Merritt Syndrome in an Adult: A Comment 61
30345972 2019
25
A case of an elderly female with diffuse hepatic hemangiomatosis complicated with multiple organic dysfunction and Kasabach-Merritt syndrome. 61
29845554 2018
26
Kasabach-Merritt Syndrome in an Adult 61
29391339 2018
27
Coexistence of Kasabach-Merritt Syndrome and placental chorioangioma in a premature infant. 61
29991142 2018
28
Successful Management of Kaposiform Hemangioendothelioma with Long-Term Sirolimus Treatment: a Case Report and Review of the Literature. 61
30002799 2018
29
Tufted angioma arising at the site of hepatitis B vaccination: A case report. 61
30325126 2018
30
Successful combination therapy of propranolol and prednisolone for a case with congenital Kasabach-Merritt syndrome. 61
28771780 2017
31
Kasabach-Merritt syndrome combined with hypercalcemia: A case report. 61
29285174 2017
32
Extremely Giant Liver Hemangioma (50 cm) with Kasabach-Merritt Syndrome. 61
28424986 2017
33
Propranolol in the preoperative treatment of Kasabach-Merritt syndrome: a case report. 61
29073926 2017
34
[Refractory kaposiform hemangioendothelioma with Kasabach-Merritt syndrome: clinical analysis of 10 cases]. 61
28881518 2017
35
Giant liver hemangioma with adult Kasabach-Merritt syndrome: Case report and literature review. 61
28767598 2017
36
Multimodal treatment of Kasabach-Merritt syndrome arising from tufted angioma: A case report. 61
28599491 2017
37
A Huge Subcutaneous Hematoma in an Adult with Kasabach-Merritt Syndrome. 61
28626212 2017
38
Characteristics and operative treatment of extremely giant liver hemangioma >20 cm. 61
28126252 2017
39
Combined Transarterial Embolization and Propranolol as Effective Treatment for Hepatic Hemangioma with Kasabach-Merritt Syndrome and Heart Failure in a Neonate. 61
27373825 2017
40
Hepatic angiosarcoma with clinical and histological features of Kasabach-Merritt syndrome. 61
28428724 2017
41
Kaposiform hemangioendothelioma with Kasabach-Merritt syndrome: successful treatment with sirolimus. 61
28220608 2017
42
A New Perspective for Infantile Hepatic Hemangioma in the Age of Propranolol: Experience at Baskent University. 61
28302004 2017
43
Infantile hemangiomas: a 7-year experience of a single-center. 61
29151787 2017
44
Successful transarterial embolization with cellulose porous beads for occipital haemangioma in an infant with Kasabach-Merritt syndrome. 61
30363243 2017
45
Successful surgical management of congenital Kasabach-Merritt syndrome. 61
28102622 2017
46
A Rare Presentation of Isolated Congenital Splenic Hemangioma With Kasabach-Merritt Syndrome. 61
27571125 2017
47
Excellent outcome of medical treatment for Kasabach-Merritt syndrome: a single-center experience. 61
28090488 2016
48
Awareness of primary spontaneous hemorrhagic angiosarcoma of the breast associated with Kasabach-Merritt syndrome in a pregnant woman by enhanced magnetic resonance imaging: A CARE-compliant case report. 61
27858895 2016
49
[Unexpected cutaneous purpura in an infant]. 61
27817784 2016
50
Successful low-dose radiotherapy treatment for Kasabach-Merritt syndrome. 61
27804244 2016

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
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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