MCID: HMN035
MIFTS: 41

Hemangioma-Thrombocytopenia Syndrome

Categories: Blood diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Hemangioma-Thrombocytopenia Syndrome

MalaCards integrated aliases for Hemangioma-Thrombocytopenia Syndrome:

Name: Hemangioma-Thrombocytopenia Syndrome 58 60
Kasabach-Merritt Syndrome 58 60 30 56 74
Hemangioma Thrombocytopenia Syndrome 77 54
Thrombocytopenia-Hemangioma Syndrome 54
Kasabach-Merritt Syndrome; Kms 58
Kasabach Merritt Phenomenon 54
Kasabach Merritt Syndrome 54
Kms 58
Kmp 54

Characteristics:

Orphanet epidemiological data:

60
kasabach-merritt syndrome
Inheritance: Not applicable; Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
hemangioma-thrombocytopenia syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 141000
ICD10 via Orphanet 35 D18.0
UMLS via Orphanet 75 C0221025
Orphanet 60 ORPHA2330
MedGen 43 C0221025
UMLS 74 C0221025

Summaries for Hemangioma-Thrombocytopenia Syndrome

NIH Rare Diseases : 54 Hemangioma thrombocytopeniasyndrome 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 Prednisolone phosphate have been mentioned in the context of this disorder. Affiliated tissues include liver, breast and prostate, and related phenotypes are thrombocytopenia and hyperkalemia

Wikipedia : 77 Kasabach–Merritt syndrome, also known as hemangioma with thrombocytopenia is a rare disease, usually of... more...

Description 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 131)
# Related Disease Score Top Affiliating Genes
1 kabuki syndrome 1 12.0
2 angioma, tufted 11.9
3 hypogonadotropic hypogonadism 1 with or without anosmia 11.8
4 hemangioendothelioma 10.9
5 angiosarcoma 10.8
6 kaposiform hemangioendothelioma 10.8
7 hemangioma of liver 10.7
8 giant hemangioma 10.7
9 breast angiosarcoma 10.6
10 cavernous hemangioma 10.6
11 capillary hemangioma 10.5
12 angiosarcoma of the scalp 10.5
13 hemangioma of spleen 10.4
14 rere-related disorders 10.4
15 lymphangiomatosis 10.4
16 welander distal myopathy 10.4
17 hemangioma 10.3
18 thrombocytopenia 10.3
19 arteriovenous malformations of the brain 10.2
20 intussusception 10.2
21 klippel-trenaunay-weber syndrome 10.2
22 proteus syndrome 10.2
23 hemorrhage, intracerebral 10.2
24 lymphatic malformation 7 10.2
25 disseminated intravascular coagulation 10.2
26 arteriovenous malformation 10.2
27 obstructive jaundice 10.2
28 lymphangioma 10.2
29 chorioangioma 10.2
30 infiltrating angiolipoma 10.2
31 angiolipoma 10.2
32 hemophilia 10.2
33 fetal edema 10.2
34 hydrops fetalis 10.2
35 orbital lymphangioma 10.2
36 weber syndrome 10.2
37 angioosteohypertrophic syndrome 10.2
38 immune hydrops fetalis 10.2
39 gastrointestinal stromal tumor 10.2
40 japanese encephalitis 10.2
41 duodenal obstruction 10.2
42 encephalitis 10.2
43 lymphatic malformations 10.2
44 primary amebic meningoencephalitis 10.2
45 polymyositis 10.2
46 lipoprotein glomerulopathy 10.2
47 alcohol dependence 10.1
48 hemolytic anemia 10.0
49 encephalocele 10.0
50 blood group, kidd system 9.9

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:

33
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 33 HP:0001873
2 hyperkalemia 33 HP:0002153
3 hemangioma 33 HP:0001028
4 microangiopathic hemolytic anemia 33 HP:0001937
5 ventricular arrhythmia 33 HP:0004308

Symptoms via clinical synopsis from OMIM:

58
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 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sirolimus Approved, Investigational Phase 2 53123-88-9 46835353 5284616 6436030
2
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
3
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
4
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
5
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
6
Propranolol Approved, Investigational Phase 2 525-66-6 4946
7
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
8
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
9
tannic acid Approved Phase 2 1401-55-4
10
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
11
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
12
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
13 Adrenergic beta-Antagonists Phase 2
14 Immunologic Factors Phase 2
15 Peripheral Nervous System Agents Phase 2
16 Hormone Antagonists Phase 2
17 Neuroprotective Agents Phase 2
18 Adrenergic Antagonists Phase 2
19 Anti-Arrhythmia Agents Phase 2
20 Neurotransmitter Agents Phase 2
21 Adrenergic Agents Phase 2
22 Hormones Phase 2
23 Gastrointestinal Agents Phase 2
24 Vasodilator Agents Phase 2
25 Antiemetics Phase 2
26 Antineoplastic Agents, Hormonal Phase 2
27 Methylprednisolone Acetate Phase 2
28 Antibiotics, Antitubercular Phase 2
29 Anti-Infective Agents Phase 2
30 Immunosuppressive Agents Phase 2
31 glucocorticoids Phase 2
32 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
33 Anti-Bacterial Agents Phase 2
34 Antihypertensive Agents Phase 2
35 Antifungal Agents Phase 2
36 Autonomic Agents Phase 2
37 Anti-Inflammatory Agents Phase 2
38 Protective Agents Phase 2
39 Prednisolone acetate Phase 2
40 Antimitotic Agents Phase 2
41 Antineoplastic Agents, Phytogenic Phase 2
42 Endothelial Growth Factors
43 Mitogens

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sirolimus Plus Propranolol Versus Sirolimus Plus Prednisolone for Kaposiform Hemangioendothelioma Recruiting NCT03188068 Phase 2 Sirolimus;Prednisolone;Propranolol
2 A Study to Compare Vincristine to Sirolimus for Treatment of High Risk Vascular Tumors Recruiting NCT02110069 Phase 2 Vincristine;Sirolimus
3 Safety and Efficacy Study of Sirolimus in Complicated Vascular Anomalies Active, not recruiting NCT00975819 Phase 2 sirolimus
4 Registry for Vascular Anomalies Associated With Coagulopathy Recruiting NCT00576888
5 Identification of Biomarkers for Patients With Vascular Anomalies Recruiting NCT03001180
6 Lymphatic Anomalies Registry Recruiting NCT02399527

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 30

Anatomical Context for Hemangioma-Thrombocytopenia Syndrome

MalaCards organs/tissues related to Hemangioma-Thrombocytopenia Syndrome:

42
Liver, Breast, Prostate, Spleen, Heart, Endothelial, Neutrophil

Publications for Hemangioma-Thrombocytopenia Syndrome

Articles related to Hemangioma-Thrombocytopenia Syndrome:

(show top 50) (show all 259)
# Title Authors Year
1
Kasabach-Merritt syndrome arising from a vascular fistula. ( 31003830 )
2019
2
Successful treatment of an adult with Kasabach-Merritt syndrome using thalidomide, vincristine, and prednisone. ( 30806107 )
2019
3
Kasabach-Merritt Syndrome in an Adult: A Comment ( 30345972 )
2019
4
A case of an elderly female with diffuse hepatic hemangiomatosis complicated with multiple organic dysfunction and Kasabach-Merritt syndrome. ( 29845554 )
2018
5
Kasabach-Merritt Syndrome in an Adult ( 29391339 )
2018
6
Coexistence of Kasabach-Merritt Syndrome and placental chorioangioma in a premature infant. ( 29991142 )
2018
7
Successful transarterial embolization with cellulose porous beads for occipital haemangioma in an infant with Kasabach-Merritt syndrome. ( 30363243 )
2017
8
Kasabach-Merritt syndrome combined with hypercalcemia: A case report. ( 29285174 )
2017
9
Propranolol in the preoperative treatment of Kasabach-Merritt syndrome: a case report. ( 29073926 )
2017
10
Successful combination therapy of propranolol and prednisolone for a case with congenital Kasabach-Merritt syndrome. ( 28771780 )
2017
11
A Huge Subcutaneous Hematoma in an Adult with Kasabach-Merritt Syndrome. ( 28626212 )
2017
12
Multimodal treatment of Kasabach-Merritt syndrome arising from tufted angioma: A case report. ( 28599491 )
2017
13
Successful surgical management of congenital Kasabach-Merritt syndrome. ( 28102622 )
2017
14
Kaposiform hemangioendothelioma with Kasabach-Merritt syndrome: successful treatment with sirolimus. ( 28220608 )
2017
15
Giant liver hemangioma with adult Kasabach-Merritt syndrome: Case report and literature review. ( 28767598 )
2017
16
Extremely Giant Liver Hemangioma (50 cm) with Kasabach-Merritt Syndrome. ( 28424986 )
2017
17
Combined Transarterial Embolization and Propranolol as Effective Treatment for Hepatic Hemangioma with Kasabach-Merritt Syndrome and Heart Failure in a Neonate. ( 27373825 )
2017
18
A Rare Presentation of Isolated Congenital Splenic Hemangioma With Kasabach-Merritt Syndrome. ( 27571125 )
2017
19
Hepatic angiosarcoma with clinical and histological features of Kasabach-Merritt syndrome. ( 28428724 )
2017
20
Excellent outcome of medical treatment for Kasabach-Merritt syndrome: a single-center experience. ( 28090488 )
2016
21
Successful low-dose radiotherapy treatment for Kasabach-Merritt syndrome. ( 27804244 )
2016
22
Hepatic Hemangioma with Kasabach-Merritt Syndrome in an Adult Patient. ( 27112250 )
2016
23
Recurrent Primary Angiosarcoma of the Breast Presenting as Kasabach-Merritt Syndrome: A Case Report and Review of Literature. ( 27042570 )
2016
24
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. ( 27858895 )
2016
25
Metastatic Angiosarcoma with Kasabach-Merritt Syndrome Responsive to Gemcitabine and Vinorelbine after Failure of Liposomal Doxorubicin and Paclitaxel: A Case Report. ( 27065850 )
2016
26
Angiosarcoma of the scalp and face associated with Kasabach-Merritt syndrome and disseminated intravascular coagulation. ( 26728827 )
2016
27
Kasabach-Merritt syndrome, kaposiform haemangioendothelioma and platelet blockade. ( 26114338 )
2015
28
Pulmonary manifestation of a condition resembling Kasabach-Merritt syndrome in a woman with abdominal angiomatosis associated with consumptive coagulopathy--surgical management: a case report. ( 25956942 )
2015
29
Prenatal diagnosis of Klippel-Trenaunay-Weber syndrome with Kasabach-Merritt syndrome in utero. ( 26578498 )
2015
30
Kasabach-Merritt Syndrome Associated With a Large Cavernous Splenic Hemangioma Treated With Splenectomy: A Surgeon's Introspection of an Uncommon, Little Read, and Yet Complex Problem-Review Article. ( 25972684 )
2015
31
Comprehensive therapy for hemangioma presenting with Kasabach-Merritt syndrome in the maxillofacial region. ( 25511959 )
2015
32
Unusual treatment of Kasabach-Merritt syndrome secondary to hepatic hemangioma: embolization with bleomycin. ( 25471004 )
2015
33
Obstructive jaundice caused by a giant liver hemangioma with Kasabach-Merritt syndrome: a case report. ( 26943417 )
2015
34
Haemangioma, thrombocytopenia and coagulopathy- kasabach merritt syndrome: an appraisal for anaesthesiologists. ( 25738066 )
2015
35
Tufted angioma with Kasabach-Merritt syndrome mistaken for child abuse. ( 25459275 )
2014
36
Clinical analysis of Kasabach-Merritt syndrome in 17 neonates. ( 24920221 )
2014
37
Chemotherapy and surgical approach with repeated endovascular embolizations: safe interdisciplinary treatment for kasabach-merritt syndrome in a small baby. ( 24575011 )
2014
38
Neuroembolization of metastatic Merkel cell cancer to the face for treatment of Kasabach-Merritt syndrome. ( 23385004 )
2014
39
Metastatic angiosarcoma and kasabach-merritt syndrome. ( 25002952 )
2014
40
Kaposiform hemangioendothelioma with Kasabach-Merritt syndrome mistaken for child abuse in a newborn. ( 24738105 )
2014
41
Kasabach - Merritt syndrome: A case report. ( 27493358 )
2013
42
About the treatment of kasabach-merritt syndrome. ( 24385766 )
2013
43
Hand-assisted laparoscopic splenectomy for a huge splenic vascular lesion with aneurysms in a patient with impending Kasabach-Merritt syndrome-like phenomenon. ( 24190048 )
2013
44
Anaesthetic management of a neonate with Kasabach-Merritt syndrome. ( 23983291 )
2013
45
Kasabach-Merritt syndrome in a child with upper airway compromise and spontaneous periorbital bruising. ( 23780597 )
2013
46
Successful treatment of Kasabach-Merritt syndrome with transarterial embolization and corticosteroids. ( 23480932 )
2013
47
Intractable tufted angioma associated with kasabach-merritt syndrome. ( 23463840 )
2013
48
Neuroembolization of metastatic Merkel cell cancer to the face for treatment of Kasabach-Merritt syndrome. ( 23329724 )
2013
49
Transarterial embolization of a cervicofacial hemangioma associated with Kasabach-Merritt syndrome in a premature neonate. ( 24267538 )
2013
50
Angiosarcoma associated with a Kasabach-Merritt syndrome: report of two cases treated with paclitaxel. ( 23980686 )
2013

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

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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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