MCID: HMN035
MIFTS: 38

Hemangioma-Thrombocytopenia Syndrome

Categories: Rare diseases, Blood diseases

Aliases & Classifications for Hemangioma-Thrombocytopenia Syndrome

MalaCards integrated aliases for Hemangioma-Thrombocytopenia Syndrome:

Name: Hemangioma-Thrombocytopenia Syndrome 57 59
Kasabach-Merritt Syndrome 57 59 29 55 73
Hemangioma Thrombocytopenia Syndrome 76 53
Thrombocytopenia-Hemangioma Syndrome 53
Kasabach-Merritt Syndrome; Kms 57
Kasabach Merritt Phenomenon 53
Kasabach Merritt Syndrome 53
Kms 57
Kmp 53

Characteristics:

Orphanet epidemiological data:

59
kasabach-merritt syndrome
Inheritance: Not applicable; Age of onset: Infancy,Neonatal; Age of death: any age;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hemangioma-thrombocytopenia syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 141000
Orphanet 59 ORPHA2330
UMLS via Orphanet 74 C0221025
ICD10 via Orphanet 34 D18.0
MedGen 42 C0221025
UMLS 73 C0221025

Summaries for Hemangioma-Thrombocytopenia Syndrome

NIH Rare Diseases : 53 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 Vincristine and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include liver, endothelial and spleen, and related phenotypes are hemangioma and thrombocytopenia

Wikipedia : 76 Kasabach–Merritt syndrome (KMS), also known as Hemangioma with thrombocytopenia is a rare disease,... more...

Description from OMIM: 141000

Related Diseases for Hemangioma-Thrombocytopenia Syndrome

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



Diseases related to Hemangioma-Thrombocytopenia Syndrome

Symptoms & Phenotypes for Hemangioma-Thrombocytopenia Syndrome

Symptoms via clinical synopsis from OMIM:

57
Skin:
giant hemangiomas

Cardiac:
hyperkalemic ventricular arrhythmia

Heme:
thrombocytopenia
microangiopathic hemolytic anemia

Lab:
red cell changes compatible with trauma
hyperkalemia


Clinical features from OMIM:

141000

Human phenotypes related to Hemangioma-Thrombocytopenia Syndrome:

32
# Description HPO Frequency HPO Source Accession
1 hemangioma 32 HP:0001028
2 thrombocytopenia 32 HP:0001873
3 microangiopathic hemolytic anemia 32 HP:0001937
4 hyperkalemia 32 HP:0002153
5 ventricular arrhythmia 32 HP:0004308

Drugs & Therapeutics for Hemangioma-Thrombocytopenia Syndrome

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

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978
2
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
3
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
4
Everolimus Approved Phase 2 159351-69-6 6442177
5
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
6
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
7
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
8 tannic acid Approved, Nutraceutical Phase 2
9 Prednisolone acetate Phase 2
10 glucocorticoids Phase 2
11 Methylprednisolone acetate Phase 2
12 Methylprednisolone Hemisuccinate Phase 2
13 Gastrointestinal Agents Phase 2
14 Neuroprotective Agents Phase 2
15 Hormone Antagonists Phase 2
16 Hormones Phase 2
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
18 Peripheral Nervous System Agents Phase 2
19 Anti-Bacterial Agents Phase 2
20 Antibiotics, Antitubercular Phase 2
21 Immunosuppressive Agents Phase 2
22 Prednisolone hemisuccinate Phase 2
23 Prednisolone phosphate Phase 2
24 Anti-Infective Agents Phase 2
25 Antiemetics Phase 2
26 Antifungal Agents Phase 2
27 Protective Agents Phase 2
28 Anti-Inflammatory Agents Phase 2
29 Autonomic Agents Phase 2
30 Antimitotic Agents Phase 2
31 Antineoplastic Agents, Hormonal Phase 2
32 Antineoplastic Agents, Phytogenic Phase 2
33 Mitogens
34 Endothelial Growth Factors

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 29

Anatomical Context for Hemangioma-Thrombocytopenia Syndrome

MalaCards organs/tissues related to Hemangioma-Thrombocytopenia Syndrome:

41
Liver, Endothelial, Spleen, Breast, Colon, Thymus

Publications for Hemangioma-Thrombocytopenia Syndrome

Articles related to Hemangioma-Thrombocytopenia Syndrome:

(show top 50) (show all 70)
# Title Authors Year
1
Kaposiform hemangioendothelioma with Kasabach-Merritt syndrome: successful treatment with sirolimus. ( 28220608 )
2017
2
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
3
Hepatic Hemangioma with Kasabach-Merritt Syndrome in an Adult Patient. ( 27112250 )
2016
4
Prenatal diagnosis of Klippel-Trenaunay-Weber syndrome with Kasabach-Merritt syndrome in utero. ( 26578498 )
2015
5
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
6
Obstructive jaundice caused by a giant liver hemangioma with Kasabach-Merritt syndrome: a case report. ( 26943417 )
2015
7
Tufted angioma with Kasabach-Merritt syndrome mistaken for child abuse. ( 25459275 )
2014
8
Kaposiform hemangioendothelioma with Kasabach-Merritt syndrome mistaken for child abuse in a newborn. ( 24738105 )
2014
9
Clinical analysis of Kasabach-Merritt syndrome in 17 neonates. ( 24920221 )
2014
10
Angiosarcoma associated with a Kasabach-Merritt syndrome: report of two cases treated with paclitaxel. ( 23980686 )
2013
11
Rapidly enlarging "bruise" on the back of an infant. Kaposiform hemangioendothelioma complicated by Kasabach-Merritt syndrome. ( 24005816 )
2013
12
Intractable tufted angioma associated with kasabach-merritt syndrome. ( 23463840 )
2013
13
Transarterial embolization of a cervicofacial hemangioma associated with kasabach-merritt syndrome in a premature neonate. ( 24267538 )
2013
14
Successful treatment of Kasabach-Merritt syndrome arising from kaposiform hemangioendothelioma by systemic corticosteroid therapy and surgery. ( 21947597 )
2012
15
Kaposiform hemangioendothelioma with Kasabach-Merritt syndrome: a new indication for propranolol treatment. ( 21516018 )
2011
16
[Combined and sequential therapy for Kasabach-Merritt syndrome]. ( 22321880 )
2011
17
Kasabach-merritt syndrome arising from tufted angioma successfully treated with systemic corticosteroid. ( 21165213 )
2010
18
Cutaneous angiosarcoma associated with the Kasabach-Merritt syndrome. ( 21274494 )
2010
19
Vincristine and corticosteroids as first-line treatment of Kasabach-Merritt syndrome in kaposiform hemangioendothelioma. ( 19426625 )
2009
20
Kaposiform hemangioendothelioma (with Kasabach Merritt syndrome) of the head and neck: case report and review of the literature. ( 19643504 )
2009
21
Adult Kasabach-Merritt Syndrome due to Hepatic Giant Hemangioma. ( 21103246 )
2009
22
Giant cavernous hemangioma of the liver with coagulopathy: adult Kasabach-Merritt syndrome. ( 19167982 )
2009
23
Brachial plexus paralysis due to giant cavernous hemangioma with Kasabach-Merritt syndrome: successful management with interferon alpha. ( 19929246 )
2009
24
Successful treatment of retroperitoneal infantile hemangioendothelioma with Kasabach-Merritt syndrome using steroid, alpha-interferon, and vincristine. ( 19875968 )
2009
25
Diffuse cavernous hemangioma of the spleen with Kasabach-Merritt syndrome misdiagnosed as idiopathic thrombocytopenia in a child. ( 18822934 )
2008
26
Tufted angioma-associated Kasabach-Merritt syndrome treated with embolization and vincristine. ( 18301012 )
2008
27
Kaposiform hemangioendothelioma with distant lymphangiomatosis without an association to Kasabach-Merritt-Syndrome in a female adult! ( 18629354 )
2008
28
Kasabach-Merritt syndrome secondary to diffuse angiomatosis of the colon. ( 17486357 )
2008
29
Kasabach-Merritt syndrome caused by giant hemangiomas of the spleen in patients with Proteus syndrome. ( 17581327 )
2007
30
Metastatic angiosarcoma of the scalp causing Kasabach-Merritt syndrome. ( 17505172 )
2007
31
Fetal neck capillary hemangioma associated with Kasabach-Merritt syndrome. ( 17324993 )
2007
32
Tufted angioma-associated Kasabach-Merritt syndrome treated with embolization and vincristine. ( 17496631 )
2007
33
An infant with Kasabach-Merritt syndrome with associated renal hematoma and intussusception. ( 15660105 )
2005
34
Kasabach-Merritt syndrome: a case report. ( 16758782 )
2005
35
Transgenic rabbits with increased VEGF expression develop hemangiomas in the liver: a new model for Kasabach-Merritt syndrome. ( 16200077 )
2005
36
Hemangioma of the radius associated with Kasabach-Merritt syndrome: case report and literature review. ( 14676541 )
2004
37
Retroperitoneal kaposiform hemangioendothelioma with tufted angioma-like features in an infant with Kasabach-Merritt syndrome. ( 14507321 )
2003
38
Successful treatment with interferon alfa in infiltrating angiolipoma: a case presenting with Kasabach-Merritt syndrome. ( 12495967 )
2003
39
Treatment of Kasabach-Merritt syndrome: a stepwise regimen of prednisolone, dipyridamole, and interferon. ( 12956695 )
2003
40
Orbital lymphangioma with non-contiguous cerebral arteriovenous malformation, manifesting with thrombocytopenia (Kasabach-Merritt syndrome) and intracerebral hemorrhage. ( 11883828 )
2002
41
Radiotherapy in the management of Kasabach-Merritt syndrome: a case report. ( 11594711 )
2001
42
Capillary hemangioma of the liver with Kasabach-Merritt syndrome in a neonate: report of a case. ( 10648092 )
2000
43
Histopathology of vascular lesions found in Kasabach-Merritt syndrome: review based on 13 cases. ( 11000333 )
2000
44
Kasabach-Merritt syndrome: identification of platelet trapping in a tufted angioma by immunohistochemistry technique using monoclonal antibody to CD61. ( 10571842 )
1999
45
Successful transcutaneous arterial embolization of a giant hemangioma associated with high-output cardiac failure and Kasabach-Merritt syndrome in a neonate: a case report. ( 10642962 )
1999
46
Kasabach-Merritt syndrome-associated kaposiform hemangioendothelioma successfully treated with cyclophosphamide, vincristine, and actinomycin D. ( 9856681 )
1998
47
-Neonatal Kasabach-Merritt syndrome healed by complete surgical excision of the angioma-. ( 10327999 )
1998
48
Infantile hemangioendothelioma of the thymus with massive pleural effusion and Kasabach--Merritt syndrome: histopathological, flow cytometrical analysis of the tumor. ( 9893299 )
1998
49
Spindle cell (Kaposiform) hemangioendothelioma with Kasabach-Merritt syndrome in an infant: successful treatment with alpha-2A interferon. ( 9121401 )
1997
50
Interferon therapy in an infant with Kasabach-Merritt syndrome. ( 8607364 )
1995

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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