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MASTC
MCID: MST024
MIFTS: 65

Mastocytosis, Cutaneous (MASTC)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Mastocytosis, Cutaneous

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MalaCards integrated aliases for Mastocytosis, Cutaneous:

Name: Mastocytosis, Cutaneous 57 73 43
Urticaria Pigmentosa 57 11 19 58 75 73 53 43 14 71 33
Cutaneous Mastocytosis 11 19 58 28 5 14 16 71 33
Maculopapular Cutaneous Mastocytosis 19 58 16 33
Diffuse Cutaneous Mastocytosis 11 19 58 14
Mastocytosis, Diffuse Cutaneous 57 73 71
Diffuse Cutaneous Maculopapulous Mastocytosis 19 58
Mastocytosis, Maculopapular Cutaneous 57 73
Mastocytosis, Systemic, Somatic 57 5
Mastocytoma 19 71
Mastc 57 73
Dcm 19 58
Mastocytosis with Associated Hematologic Disorder 73
Mastocytosis, Systemic 73
Mastocytosis, Indolent 73
Mast Cell Neoplasm 71
Benign Mastocytoma 71
Mast Cell Leukemia 73
Mast Cell Disease 73
Mast-Cell Disease 73
Up/mpcm 11
Mastsys 73
Cm 11

Characteristics:


Inheritance:

Autosomal dominant 57

Prevelance:

Diffuse Cutaneous Mastocytosis: <1/1000000 (Worldwide) 58

Age Of Onset:

Diffuse Cutaneous Mastocytosis: Infancy,Neonatal 58
Cutaneous Mastocytosis: Childhood 58
Maculopapular Cutaneous Mastocytosis: All ages 58

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Skin diseases Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 32
ICD11: 33
Orphanet: 58  
Rare skin diseases
Rare haematological diseases


Sources

Summaries for Mastocytosis, Cutaneous

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OMIM®: 57 Mastocytosis, or mast cell disease, is a heterogeneous group of clinical disorders characterized by the abnormal accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs. Mastocytosis usually appears in infancy or early adulthood. In most pediatric cases, the disease is limited to the skin, but it can be associated with systemic symptoms due to the release of mediators from mast cells, even when there is no systemic infiltration. It usually has a good prognosis, with substantial improvement or spontaneous resolution before puberty. In rare cases, the disease may remain active through adolescence as a systemic adult mastocytosis. Cutaneous mastocytosis is characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed the 'Darier sign.' In contrast to childhood-onset mastocytosis, adult-onset mastocytosis often persists for the lifetime of the patient and is also more likely to be a severe and systemic disease involving numerous organs. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. Adult-onset mastocytosis can also lead to the rare mast cell leukemia, which carries a high risk of mortality (summary by Bodemer et al., 2010 and Kambe et al., 2010). (154800) (Updated 08-Dec-2022)

MalaCards based summary: Mastocytosis, Cutaneous, also known as urticaria pigmentosa, is related to benign mastocytoma and urticaria, and has symptoms including macule and darier's sign. An important gene associated with Mastocytosis, Cutaneous is KIT (KIT Proto-Oncogene, Receptor Tyrosine Kinase), and among its related pathways/superpathways are Akt Signaling and PAK Pathway. The drugs Imatinib Mesylate and Cladribine have been mentioned in the context of this disorder. Affiliated tissues include skin, spleen and bone marrow, and related phenotypes are pruritus and flushing

Orphanet 58 Cutaneous mastocytosis: A rare group of mastocytosis diseases characterized by abnormal accumulation and proliferation of mast cells in the skin and including the three recognised forms: diffuse cutaneous mastocytosis, cutaneous mastocytoma and, the most common form, maculopapular cutaneous mastocytosis. In some cases (most commonly in adults), cutaneous mastocytosis may occur in association with mast cell infiltration of various extracutaneous organs, in which case the disorder is referred to as systemic mastocytosis.

Diffuse cutaneous mastocytosis: Diffuse cutaneous mastocytosis (DCM) is a rare form of cutaneous mastocytosis (CM; see this term) characterized by generalized erythroderma, various degrees of blistering, skin with a ''peau d'orange'' appearance and the accumulation of mast cells in the skin. At least two DCM variants are recognized, one with extreme blistering (Bullous DCM; see this term) and one with infiltrations (Pseudoxanthomatous DCM; see this term).

Maculopapular cutaneous mastocytosis: Maculopapular cutaneous mastocytosis (MCM) is a form of cutaneous mastocytosis (CM; see this term) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin.

UniProtKB/Swiss-Prot 73 Mastocytosis, cutaneous: A form of mastocytosis, a heterogeneous group of disorders associated with abnormal proliferation and accumulation of mast cells in various tissues, especially in the skin and hematopoietic organs. MASTC is an autosomal dominant form characterized by macules, papules, nodules, or diffuse infiltration of the skin, often associated with localized hyperpigmentation. Gentle rubbing of the lesions induces histamine release from mechanically activated mast cells, causing local wheals, erythema, and often pruritus, a phenomenon termed Darier sign.

Mastocytosis, systemic: A severe form of mastocytosis characterized by abnormal proliferation and accumulation of mast cells in several organs, resulting in a systemic disease that may affect bone, gastrointestinal tract, lymphatics, spleen, and liver. In some cases, it is associated with a clonal hematologic non-mast-cell lineage disease, such as a myelodysplastic or myeloproliferative disorder. It can also lead to mast cell leukemia, which carries a high risk of mortality.

GARD: 19 Cutaneous mastocytosis is a form of mastocytosis that primarily affects the skin. There are three main forms of the condition: maculopapular Cutaneous mastocytosis (also called urticaria pigmentosa), solitary cutaneous mastocytoma, and diffuse Cutaneous mastocytosis. There is also an exteremely rare form called telangiectasia macularis eruptiva perstans. The signs, symptoms and severity of the condition vary by subtype. Cutaneous mastocytosis is usually caused by changes in the KIT gene. Most cases are caused by somatic genetic changes which are not inherited or passed on to the next generation. However, it can rarely affect more than one family member and be inherited in an autosomal dominant manner.

Wikipedia: 75 Urticaria pigmentosa (also known as generalized eruption of cutaneous mastocytosis (childhood type): 616... more...
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Related Diseases for Mastocytosis, Cutaneous

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Diseases related to Mastocytosis, Cutaneous via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 572)
# Related Disease Score Top Affiliating Genes
1 benign mastocytoma 32.4 KIT CD2
2 urticaria 31.6 MRGPRX2 KIT IL31 IL3 CMA1
3 extracutaneous mastocytoma 31.3 U2AF1 TET2 SRSF2 KITLG KIT FIP1L1
4 gastrointestinal stromal tumor 30.9 U2AF1 PDGFRA NTRK1 KITLG KIT CD34
5 solitary mastocytoma of the skin 30.3 TPSAB1 KITLG KIT CMA1 CD2
6 parapsoriasis 30.3 TNFRSF8 CD2
7 hypereosinophilic syndrome 30.3 PDGFRA KIT IL3 FIP1L1
8 systemic mastocytosis 30.2 U2AF1 TPSAB1 TET2 SRSF2 PDGFRA KITLG
9 refractory anemia 30.2 TET2 ASXL1
10 dowling-degos disease 1 30.1 KITLG KIT
11 mediastinal cancer 30.0 TNFRSF8 KIT CD34
12 neurofibroma 29.9 PDGFRA KITLG KIT CD34
13 germ cell cancer 29.9 TNFRSF8 KITLG KIT CD34
14 mixed germ cell cancer 29.9 TNFRSF8 KIT
15 polycythemia 29.9 TET2 KITLG IL3
16 scabies 29.9 TNFRSF8 IL31 CD1E
17 mast-cell leukemia 29.8 U2AF1 KITLG KIT CD2 ATP7A
18 acute basophilic leukemia 29.8 U2AF1 KIT CD34
19 hypereosinophilic syndrome, idiopathic 29.8 PDGFRA KIT IL3 FIP1L1
20 chronic urticaria 29.7 MRGPRX2 IL31 IL3
21 mesenchymal cell neoplasm 29.7 PDGFRA NTRK1 KIT CD34
22 dermatitis, atopic 29.7 TNFRSF8 KITLG IL31 IL3 CMA1
23 leukemia, acute lymphoblastic 29.7 U2AF1 KITLG KIT IL3 CD34 CD2
24 systemic mastocytosis with associated hematologic neoplasm 29.7 TET2 SRSF2 KIT ASXL1
25 pancytopenia 29.6 U2AF1 KIT IL3 CD34 CD2
26 acute leukemia 29.6 KITLG KIT IL3 CD34
27 refractory anemia with excess blasts 29.6 U2AF1 TET2 ASXL1
28 hematologic cancer 29.6 U2AF1 TNFRSF8 KITLG KIT IL3
29 aplastic anemia 29.5 U2AF1 KITLG IL3 CD34 ASXL1
30 langerhans cell histiocytosis 29.5 U2AF1 TNFRSF8 CD34 CD1E
31 non-langerhans-cell histiocytosis 29.5 U2AF1 CD1E
32 myeloid sarcoma 29.5 U2AF1 TNFRSF8 KIT CD34
33 lymphoma, non-hodgkin, familial 29.5 U2AF1 TNFRSF8 KITLG IL3 CD34
34 mastocytosis 29.4 TPSAB1 TNFRSF8 TET2 SRSF2 PDGFRA NTRK1
35 wilms tumor 1 29.4 U2AF1 TET2 KIT CD34
36 severe combined immunodeficiency 29.3 TNFRSF8 KITLG IL3 CD34
37 mast-cell sarcoma 29.3 U2AF1 TNFRSF8 KITLG KIT FIP1L1 CMA1
38 thrombocytosis 29.1 U2AF1 TET2 KITLG IL3 ASXL1
39 myeloma, multiple 29.1 U2AF1 TNFRSF8 TET2 KITLG IL3
40 peripheral nervous system disease 29.1 U2AF1 TNFRSF8 NTRK1 KIT CD34
41 mast cell neoplasm 29.1 U2AF1 SRSF2 KITLG KIT IL3 CMA1
42 polycythemia vera 29.0 U2AF1 TET2 PDGFRA KITLG KIT IL3
43 leukemia, chronic lymphocytic 28.8 U2AF1 TNFRSF8 TET2 SRSF2 KIT CD34
44 myeloid leukemia 28.8 U2AF1 TET2 PDGFRA KITLG KIT IL3
45 myelofibrosis 28.8 U2AF1 TET2 SRSF2 KIT IL3 CD34
46 skin disease 28.7 U2AF1 TNFRSF8 KIT IL31 IL3 CD34
47 deficiency anemia 28.7 U2AF1 KITLG KIT IL3 CD34 ATP7A
48 sm-ahnmd 28.5 U2AF1 TET2 SRSF2 PDGFRA KITLG KIT
49 indolent systemic mastocytosis 28.5 U2AF1 TNFRSF8 SRSF2 PDGFRA MRGPRX2 KITLG
50 myelodysplastic syndrome 28.5 U2AF1 TET2 SRSF2 PDGFRA KITLG KIT

Graphical network of the top 20 diseases related to Mastocytosis, Cutaneous:



Diseases related to Mastocytosis, Cutaneous
Sources

Symptoms & Phenotypes for Mastocytosis, Cutaneous

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Human phenotypes related to Mastocytosis, Cutaneous:

58 30 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 58 30 Hallmark (90%) Very frequent (99-80%)
Frequent (79-30%)
 HP:0000989
2 flushing 58 30 Hallmark (90%) Very frequent (99-80%)
Occasional (29-5%)
 HP:0031284
3 darier's sign 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
 HP:0025081
4 elevated total serum tryptase 30 Hallmark (90%) HP:0031901
5 hypotension 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002615
6 vomiting 58 30 Frequent (33%) Frequent (79-30%)
Occasional (29-5%)
 HP:0002013
7 erythema 58 30 Frequent (33%) Frequent (79-30%)
 HP:0010783
8 macule 58 30 Frequent (33%) Frequent (79-30%)
 HP:0012733
9 headache 58 30 Frequent (33%) Frequent (79-30%)
Occasional (29-5%)
 HP:0002315
10 thickened skin 58 30 Frequent (33%) Frequent (79-30%)
 HP:0001072
11 abnormal blistering of the skin 58 30 Frequent (33%) Frequent (79-30%)
Occasional (29-5%)
 HP:0008066
12 skin erosion 58 30 Frequent (33%) Frequent (79-30%)
 HP:0200041
13 diarrhea 58 30 Frequent (33%) Frequent (79-30%)
Occasional (29-5%)
 HP:0002014
14 lymphocytosis 58 30 Frequent (33%) Frequent (79-30%)
 HP:0100827
15 yellow papule 58 30 Frequent (33%) Frequent (79-30%)
 HP:0025507
16 malnutrition 58 30 Frequent (33%) Frequent (79-30%)
 HP:0004395
17 anaphylactic shock 58 30 Frequent (33%) Frequent (79-30%)
Very rare (<4-1%)
 HP:0100845
18 peau d'orange 58 30 Frequent (33%) Frequent (79-30%)
 HP:0025533
19 hepatomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002240
20 fever 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
 HP:0001945
21 irritability 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000737
22 abdominal pain 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
 HP:0002027
23 gastrointestinal hemorrhage 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002239
24 bone pain 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002653
25 erythroderma 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001019
26 mixed hypo- and hyperpigmentation of the skin 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0009123
27 scaling skin 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0040189
28 nausea 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002018
29 dermatographic urticaria 58 30 Occasional (7.5%) Occasional (29-5%)
Occasional (29-5%)
 HP:0011971
30 wheezing 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0030828
31 adverse drug response 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0020172
32 dyspnea 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0002094
33 abnormality of the spleen 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0001743
34 abnormality of bone marrow cell morphology 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0005561
35 lymphadenopathy 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0002716
36 myeloproliferative disorder 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0005547
37 urticaria 58 30 Frequent (79-30%)
 HP:0001025
38 generalized abnormality of skin 58 Very frequent (99-80%)
Very frequent (99-80%)
39 abnormality of the liver 58 Occasional (29-5%)
40 hypermelanotic macule 30 HP:0001034
41 edema 30 HP:0000969
42 increased serum mast cell beta-tryptase concentration 58 Very frequent (99-80%)
Occasional (29-5%)
43 cutaneous mastocytosis 30 HP:0200151
44 telangiectasia macularis eruptiva perstans 30 HP:0007583

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skin:
cutaneous mastocytosis
telangiectasia macularis eruptiva perstans
urticaria pigmentosa
hyperpigmented macules or papules showing erythema or edema on trauma
bullous mastocytosis

Misc:
systemic mastocytosis may affect bone, gi tract, lymphatics, spleen, and liver

Clinical features from OMIM®:

154800 (Updated 08-Dec-2022)

UMLS symptoms related to Mastocytosis, Cutaneous:


macule; darier's sign

MGI Mouse Phenotypes related to Mastocytosis, Cutaneous:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.83 ASXL1 ATP7A CD34 CMA1 IL3 KIT
2 neoplasm MP:0002006 9.76 ASXL1 CD34 IL3 KIT KITLG PDGFRA
3 pigmentation MP:0001186 9.73 ATP7A KIT KITLG NTRK1 PDGFRA U2AF1
4 hematopoietic system MP:0005397 9.5 ASXL1 ATP7A CD34 CMA1 IL3 KIT
Sources

Drugs & Therapeutics for Mastocytosis, Cutaneous

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Drugs for Mastocytosis, Cutaneous (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 103)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Imatinib Mesylate Phase 4 220127-57-1
2
Cladribine Approved, Investigational Phase 3 4291-63-8 20279
3
Denosumab Approved Phase 3 615258-40-7
4
Hydroxychloroquine Approved Phase 2, Phase 3 118-42-3 3652
5 2-chloro-3'-deoxyadenosine Phase 3 14485373
6 interferons Phase 3
7 Interferon-alpha Phase 3
8 Leukotriene Antagonists Phase 3
9 Proton Pump Inhibitors Phase 3
10 Antidepressive Agents Phase 3
11 Histamine H1 Antagonists Phase 3
12 Histamine Antagonists Phase 3
13
Cromolyn Sodium Phase 3
14 Pharmaceutical Solutions Phase 3
15 Antirheumatic Agents Phase 2, Phase 3
16 Anti-Infective Agents Phase 2, Phase 3
17 Antiprotozoal Agents Phase 2, Phase 3
18 Antiparasitic Agents Phase 2, Phase 3
19 Antimalarials Phase 2, Phase 3
20
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
21
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
22
Denileukin diftitox Approved, Investigational Phase 2 173146-27-5
23
Midostaurin Approved, Investigational Phase 2 120685-11-2 9829523
24
Thalidomide Approved, Investigational, Withdrawn Phase 2 50-35-1 5426
25
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751 657237
26
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
27
Brentuximab vedotin Approved, Investigational Phase 2 914088-09-8
28
Mycophenolic acid Approved, Investigational Phase 1, Phase 2 24280-93-1 446541
29
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
30
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
31
Alemtuzumab Approved, Investigational Phase 2 216503-57-0
32
Iron Approved Phase 2 7439-89-6 29936
33
Deferasirox Approved, Investigational Phase 2 201530-41-8 214348 5493381
34
Histamine Approved, Investigational Phase 2 51-45-6 774
35
Diphenhydramine Approved, Investigational Phase 2 147-24-0, 58-73-1 3100
36
Promethazine Approved, Investigational Phase 2 60-87-7 4927
37
Azacitidine Approved, Investigational Phase 1, Phase 2 320-67-2 9444
38
Sunitinib Approved, Investigational Phase 2 557795-19-4 5329102
39
D-Tyrosine Approved, Experimental, Investigational, Nutraceutical Phase 2 133585-56-5, 60-18-4, 556-02-5 1153 6057
40
Obatoclax Investigational Phase 2 803712-67-6 46930997
41 Immunologic Factors Phase 2
42 Immunosuppressive Agents Phase 1, Phase 2
43 Interleukin-2 Phase 2
44 Anti-Bacterial Agents Phase 2
45 Immunoconjugates Phase 2
46 Antineoplastic Agents, Immunological Phase 2
47 Calcineurin Inhibitors Phase 1, Phase 2
48 Cyclosporins Phase 1, Phase 2
49 Antifungal Agents Phase 1, Phase 2
50 Antitubercular Agents Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 61)
# Name Status NCT ID Phase Drugs
1 Imatinib Mesylate Therapy in Systemic Mastocytosis Patients Lacking KIT Mutations Completed NCT01297777 Phase 4 Imatinib Mesylate
2 Subcutaneous Cladribine Plus Pegylated Interpheron Alfa-2a in Advanced Systemic Mastocytosis With D816V and Other Exon 17 KIT Mutations. Unknown status NCT01602939 Phase 2, Phase 3 Cladribine and pegylated interpheron alpha-2a
3 Randomized, Placebo-controlled, Phase 3 Study to Compare Efficacy and Safety of Masitinib at 6 mg/kg/Day to Placebo in Treatment of Patients With Smouldering Systemic, Indolent Systemic or Cutaneous Mastocytosis With Handicap Completed NCT00814073 Phase 3 Masitinib;Placebo
4 Phase 3 Study to Compare Oral Masitinib to Placebo in Treatment of Patients With Smouldering or Indolent Severe Systemic Mastocytosis, Unresponsive to Optimal Symptomatic Treatment Recruiting NCT04333108 Phase 3 Masitinib
5 A Randomized, Double-Blind, Placebo-Controlled Phase 2/3 Study of BLU-263 in Indolent Systemic Mastocytosis Recruiting NCT04910685 Phase 2, Phase 3 BLU-263;Placebo
6 Interest of Denosumab Treatment in Osteoporosis Associated to Systemic Mastocytosis Active, not recruiting NCT03401060 Phase 3 Denosumab;Placebo
7 Hydroxychloroquine in Isolated Cutaneous Mastocytosis Patients or Indolent Systemic Mastocytosis With Associated Skin Involvement Patients: Proof of Concept Study Not yet recruiting NCT05084872 Phase 2, Phase 3 Hydroxychloroquine
8 Phase II Single Arm Open Pilot Study to Demonstrate the Efficacy of Midostaurin in Symptom Improvement and Decrease of Mast Cell Burden in Patients With Indolent or Smoldering Systemic Mastocytosis. Unknown status NCT01920204 Phase 2 Midostaurin,
9 Multicenter, Open-Label, Single Arm Phase II Clinical Trial of Dasatinib in the Treatment of Systemic Mastocytosis Unknown status NCT00979160 Phase 2 Dasatinib
10 Efficacy and Safety of TF002 in Cutaneous Mastocytosis Completed NCT00457288 Phase 2 TF 002
11 Evaluation of RAD001 as Therapy for Patients With Systemic Mastocytosis Completed NCT00449748 Phase 2 RAD001 (Everolimus)
12 ONTAK (Denileukin Diftitox) in Patients With Systemic Mastocytosis Completed NCT00493129 Phase 2 Ontak (Denileukin Diftitox)
13 A Single Arm, Phase II, Open-Label Study to Determine the Efficacy of 100mg Twice Daily Oral Dosing of Midostaurin Administered to Patients With Aggressive Systemic Mastocytosis or Mast Cell Leukemia +/- an Associated Hematological Clonal Non-Mast Cell Lineage Disease Completed NCT00782067 Phase 2 Midostaurin (PKC412)
14 Phase II Study of Thalidomide in Mastocytosis Completed NCT00769587 Phase 2 thalidomide
15 A Phase II Clinical Trial of 17-(Allylamino)-17- Demethoxygeldanamycin (17-AAG, NSC 330507 and EPL Diluent, NSC 704057) in Adults With Systemic Mastocytosis Completed NCT00132015 Phase 2 tanespimycin
16 Low Intensity Preparative Regimen Followed by HLA-Matched, Mobilized Peripheral Blood Stem Cell Transplantation for Systemic Mastocytosis Completed NCT00006413 Phase 2
17 Randomized, Double-blind, Placebo-controlled, Crossover Design, Efficacy and Safety Study With PA101 in Patients With Indolent Systemic Mastocytosis Completed NCT02478957 Phase 2 PA101;Placebo
18 Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes Completed NCT00171912 Phase 2 imatinib mesylate
19 A Phase IA/II Multicenter, Dose-escalation Study of Oral AMN107 on a Continuous Daily Dosing Schedule in Adult Patients With Imatinib-resistant/Intolerant CML in Chronic or Accelerated Phase or Blast Crisis, Relapsed/Refractory Ph+ ALL, and Other Hematologic Malignancies. Completed NCT00109707 Phase 1, Phase 2 Nilotinib
20 A Single Arm, Phase 2, Open-Label Study to Determine the Efficacy of Twice Daily Oral Dosing of PKC412 <Midostaurin> Administered to Patients With Aggressive Systemic Mastocytosis (ASM) and Mast Cell Leukemia (MCL) Completed NCT00233454 Phase 2 Midostaurin
21 A Study of Brentuximab Vedotin (SGN-35) in CD30-Positive Systemic Mastocytosis With or Without an Associated Hematological Clonal Non-Mast Cell Lineage Disease (AHNMD) Completed NCT01807598 Phase 2 Brentuximab vedotin
22 Induction of Mixed Hematopoietic Chimerism in Patients Using Fludarabine, Low Dose TBI, PBSC Infusion and Post-Transplant Immunosuppression With Cyclosporine and Mycophenolate Mofetil Completed NCT00006251 Phase 1, Phase 2 fludarabine phosphate;cyclosporine;mycophenolate mofetil
23 Campath (Alemtuzumab) Dose Escalation, Low-Dose TBI and Fludarabine Followed by HLA Class II Mismatched Donor Stem Cell Transplantation for Patients With Hematologic Malignancies: A Multicenter Trial Completed NCT00118352 Phase 2 fludarabine phosphate;cyclosporine;mycophenolate mofetil
24 Impact of Intervention With Deferasirox on the Immune Function of Patients With Hematologic Diseases and Transfusion-Related Iron Overload Completed NCT01273766 Phase 2 deferasirox
25 An Open-Label Pilot Study to Evaluate the Effectiveness and Tolerability of a Topical Composition Therapy for the Treatment of Cutaneous Mastocytosis Recruiting NCT04846348 Phase 2
26 A Multi-Part, Randomized, Double-Blind, Placebo-Controlled Phase 2 Clinical Study of The Safety and Efficacy of CGT9486 in Subjects With Nonadvanced Systemic Mastocytosis Recruiting NCT05186753 Phase 2 CGT9486 Tablets;Placebo Tablets
27 A Phase 2 Randomized Double-Blinded Placebo-Controlled Study to Evaluate the Safety and Efficacy of Subcutaneous Sarilumab in Improving the Quality of Life in Subjects With Indolent Systemic Mastocytosis Recruiting NCT03770273 Phase 2
28 A Phase 2 Open-Label, Multicenter Clinical Study of the Safety, Efficacy, Pharmacokinetic, and Pharmacodynamic Profiles of CGT9486 as a Single Agent in Patients With Advanced Systemic Mastocytosis Recruiting NCT04996875 Phase 2 CGT9486 tablets
29 A 3-Part, Randomized, Double-Blind, Placebo-Controlled Phase 2 Study to Evaluate Safety and Efficacy of Avapritinib (BLU-285), a Selective KIT Mutation-Targeted Tyrosine Kinase Inhibitor, in Indolent and Smoldering Systemic Mastocytosis With Symptoms Inadequately Controlled With Standard Therapy Active, not recruiting NCT03731260 Phase 2 Avapritinib;Placebo
30 An Open-label, Single Arm, Phase 2 Study to Evaluate Efficacy and Safety of Avapritinib (BLU-285), A Selective KIT Mutation-targeted Tyrosine Kinase Inhibitor, in Patients With Advanced Systemic Mastocytosis Active, not recruiting NCT03580655 Phase 2 Avapritinib
31 A Phase 1/2, Open-label, 2-arm Study Evaluating BLU-263 as Monotherapy and in Combination With Azacitidine, in Patients With KIT Altered Hematologic Malignancies Not yet recruiting NCT05609942 Phase 1, Phase 2 BLU-263;Azacitidine
32 Evaluation of Obatoclax Mesylate as Therapy for Patients With Systemic Mastocytosis Terminated NCT00918931 Phase 2 Obatoclax Mesylate
33 GTB-3550 (CD16/IL-15/CD33)Tri-Specific Killer Engager (TriKE®) for the Treatment of High Risk Myelodysplastic Syndromes, Refractory/Relapsed Acute Myeloid Leukemia and Advanced Systemic Mastocytosis Terminated NCT03214666 Phase 1, Phase 2 GTB-3550 TriKE® Phase I;GTB-3550 TriKE® Phase II
34 A Phase 2 Study of Ibrutinib in Advanced Systemic Mastocytosis Terminated NCT02415608 Phase 2 Ibrutinib
35 A Phase II Study of Sunitinib Malate in Idiopathic Myelofibrosis Terminated NCT00387426 Phase 2 sunitinib malate
36 A Phase 2 Study to Evaluate the Anti-Tumor Activity of Single Agent Flotetuzumab in Advanced CD123-Positive Hematological Malignancies Withdrawn NCT03739606 Phase 2
37 A Multicenter Phase 1, Open-Label Study of DCC-2618 to Assess Safety, Tolerability, Efficacy, and Pharmacokinetics in Patients With Advanced Malignancies Completed NCT02571036 Phase 1 DCC-2618
38 A Phase 1, Single Ascending Dose and Multiple Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AK002 in Patients With Indolent Systemic Mastocytosis Completed NCT02808793 Phase 1 AK002
39 A Phase 1/Pharmacokinetic Study of Sunitinib in Patients With Cancer Who Also Have HIV and Are on HAART Therapy Completed NCT00890747 Phase 1 sunitinib malate
40 A Phase I Study of MK-2206, an AKT Inhibitor, in Pediatric Patients With Recurrent or Refractory Solid Tumors or Leukemia Completed NCT01231919 Phase 1 Akt inhibitor MK2206
41 A Phase 1 Trial to Evaluate the Safety of Single Agent Flotetuzumab in Advanced CD123-Positive Hematological Malignancies Recruiting NCT04681105 Phase 1 Acetaminophen;Dexamethasone;Diphenhydramine;Ibuprofen;Ranitidine
42 A Phase 1, First-in-Human, Dose Escalation Study of MGD024, a CD123 x CD3 Bispecific DART Molecule, in Patients With Select Relapsed or Refractory Hematologic Malignancies Recruiting NCT05362773 Phase 1 MGD024
43 A Phase 1 Study of BLU-285 in Patients With Advanced Systemic Mastocytosis (AdvSM) and Relapsed or Refractory Myeloid Malignancies Active, not recruiting NCT02561988 Phase 1 Avapritinib
44 Evaluation of the Improvement of Pigmented Skin Lesions in Patients With Mastocytosis After Performing 2 Sessions of Pigment Laser : Pilot Study Conducted at a Reference Centre Mastocytoses (LaserMasto) Unknown status NCT04377828
45 Natural History of Urticaria Pigmentosa in Children Completed NCT00467792
46 Cutaneous Mastocytosis in Children: Analysis of Somatic and Germline Mutations Completed NCT02761473
47 Ocular and Palpebral Manifestations of Mastocytosis (MOOMA) Completed NCT04978740
48 Adaptation of the Questionnaire "Regarding Patient's Quality of Life With Mastocytosis" in the French Language Completed NCT03632811
49 An External Control, Observational, Retrospective Study Assessing the Effect of Avapritinib Compared With Best Available Therapy for Patients With Advanced Systemic Mastocytosis Completed NCT04695431
50 Patient-Reported Outcome Questionnaire Development for Symptoms of Systemic Mastocytosis Completed NCT02380222

Search NIH Clinical Center for Mastocytosis, Cutaneous

Cochrane evidence based reviews: mastocytosis, cutaneous

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Genetic Tests for Mastocytosis, Cutaneous

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Genetic tests related to Mastocytosis, Cutaneous:

# Genetic test Affiliating Genes
1 Cutaneous Mastocytosis 28 KIT
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Anatomical Context for Mastocytosis, Cutaneous

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Organs/tissues related to Mastocytosis, Cutaneous:

MalaCards : Skin, Spleen, Bone Marrow, Bone, Liver, Myeloid, T Cells
ODiseA: Blood And Bone Marrow
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Publications for Mastocytosis, Cutaneous

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Articles related to Mastocytosis, Cutaneous:

(show top 50) (show all 3590)
# Title Authors PMID Year
1
Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasm. 53 62 57 5
8589724 1996
2
Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis. 62 57 5
21689725 2011
3
A germline mutation in KIT in familial diffuse cutaneous mastocytosis. 62 57 5
15173254 2004
4
A new c-kit mutation in a case of aggressive mast cell disease. 62 57 5
9029028 1997
5
Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder. 62 57 5
7479840 1995
6
Identification of mutations in the coding sequence of the proto-oncogene c-kit in a human mast cell leukemia cell line causing ligand-independent activation of c-kit product. 62 57 5
7691885 1993
7
Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. 57 5
19865100 2010
8
Frequent TET2 mutations in systemic mastocytosis: clinical, KITD816V and FIP1L1-PDGFRA correlates. 57 5
19262599 2009
9
Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. 57 5
9990072 1999
10
Clinical correlates of the presence of the Asp816Val c-kit mutation in the peripheral blood mononuclear cells of patients with mastocytosis. 57 5
9827716 1998
11
Lack of c-kit mutation in familial urticaria pigmentosa. 53 62 57
10354021 1999
12
c-kit Mutations in patients with childhood-onset mastocytosis and genotype-phenotype correlation. 62 57
15858149 2005
13
Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa. 62 5
11505412 2001
14
Concordant urticaria pigmentosa in a couple of identical twins. A five-year follow-up. 62 57
8651038 1995
15
Familial mastocytosis: a clinical, immunophenotypic, light and electron microscopic study. 62 57
1836952 1991
16
The familial occurrence of bullous mastocytosis (diffuse cutaneous mastocytosis). 62 57
2241201 1990
17
Urticaria pigmentosa in monozygotic twins. 62 57
2221954 1990
18
Familial urticaria pigmentosa. 62 57
2383167 1990
19
Familial urticaria pigmentosa. 62 57
3455808 1986
20
Familial urticaria pigmentosa with giant mast cell granules. A clinical, light, and electron microscopic study. 62 57
7316532 1981
21
Urticaria pigmentosa in identical twins. 62 57
567043 1978
22
Uniovular twins discordant for cutaneous mastocytosis. 62 57
4250565 1970
23
Mast cell disease. A cutaneous variant with multisystem involvement. 62 57
4235166 1968
24
Genetic aspects of urticaria pigmentosa. 62 57
5636045 1968
25
KIT masters mast cells in kids, too. 57
20145643 2010
26
A novel K509I mutation of KIT identified in familial mastocytosis-in vitro and in vivo responsiveness to imatinib therapy. 57
16183119 2006
27
The Kit-activating mutation D816V enhances stem cell factor--dependent chemotaxis. 5
11493470 2001
28
Mutation analysis of C-KIT in patients with myelodysplastic syndromes without mastocytosis and cases of systemic mastocytosis. 5
11380399 2001
29
Isoforms of c-KIT differ in activation of signalling pathways and transformation of NIH3T3 fibroblasts. 57
10523834 1999
30
[Familial mastocytosis. Presentation of 2 cases. General review. Nosologic importance]. 57
5124753 1971
31
Mastocytosis. A clinical genetic evaluation. 57
5424687 1970
32
Enhanced expression of SCF in the dermis is a prognostic factor for the regression of urticaria pigmentosa. 53 62
10586131 1999
33
Chronically KIT-stimulated clonally-derived human mast cells show heterogeneity in different tissue microenvironments. 53 62
9129234 1997
34
Expression of stem cell factor in cutaneous mastocytosis. 53 62
7547385 1995
35
Human dermal endothelial cells express membrane-associated mast cell growth factor. 53 62
7528242 1995
36
Comparison of serum tryptase as a diagnostic oncological marker in canine versus human mast cell neoplasms. 62
35872552 2022
37
Glutamine increases stability of TPH1 mRNA via p38 mitogen-activated kinase in mouse mastocytoma cells. 62
36331742 2022
38
KITD816V mutation in blood for the diagnostic screening of systemic mastocytosis and mast cell activation syndromes. 62
36385619 2022
39
Extracutaneous mastocytoma of colon: a case report and literature review. 62
34233110 2022
40
Mefloquine causes selective mast cell apoptosis in cutaneous mastocytosis lesions by a secretory granule-mediated pathway. 62
35876458 2022
41
Capitalizing on paradoxical activation of the mitogen-activated protein kinase pathway for treatment of Imatinib-resistant mast cell leukemia. 62
36383121 2022
42
Mast cell leukemia morphologic illustration of a rare entity. 62
36467795 2022
43
Postallograft aleukemic mast cell leukemia, with macrophagic activation syndrome. 62
36467793 2022
44
MPN-352 Clinicopathologic and Molecular Correlates of Organ Damage Across the Spectrum of Advanced Systemic Mastocytosis. 62
36164002 2022
45
[Cystic diseases in urology : Recommendations for patients with systemic mast cell disease]. 62
35508639 2022
46
Mastocytosis and related entities: a practical roadmap. 62
36259506 2022
47
MPN-453 Clinical Presentation and Diagnosis of Advanced Systemic Mastocytosis (AdvSM) in a Community Oncology Setting. 62
36164008 2022
48
The international consensus classification of mastocytosis and related entities. 62
36214901 2022
49
New Insights Into the Pathogenesis of Mastocytosis: Emerging Concepts in Diagnosis and Therapy. 62
36270293 2022
50
Histopathological characteristics are instrumental to distinguish monomorphic from polymorphic maculopapular cutaneous mastocytosis in children. 62
35596520 2022
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Variations for Mastocytosis, Cutaneous

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ClinVar genetic disease variations for Mastocytosis, Cutaneous:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KIT NM_000222.3(KIT):c.2459A>G (p.Asp820Gly) SNV Pathogenic
 13853 rs121913682 GRCh37: 4:55599333-55599333
GRCh38: 4:54733167-54733167
2 KIT NM_000222.3(KIT):c.1676T>C (p.Val559Ala) SNV Pathogenic
 13865 rs121913517 GRCh37: 4:55593610-55593610
GRCh38: 4:54727444-54727444
3 KIT NM_000222.3(KIT):c.2465A>T (p.Asn822Ile) SNV Pathogenic
 375930 rs993022333 GRCh37: 4:55599339-55599339
GRCh38: 4:54733173-54733173
4 KIT NM_000222.3(KIT):c.2447A>T (p.Asp816Val) SNV Pathogenic
Uncertain Significance
 13852 rs121913507 GRCh37: 4:55599321-55599321
GRCh38: 4:54733155-54733155
5 KIT NM_000222.3(KIT):c.1598C>A (p.Ala533Asp) SNV Pathogenic
 545643 rs753212327 GRCh37: 4:55593441-55593441
GRCh38: 4:54727275-54727275
6 KIT NM_000222.3(KIT):c.590C>T (p.Ser197Leu) SNV Likely Pathogenic
 1694457 GRCh37: 4:55564702-55564702
GRCh38: 4:54698536-54698536

UniProtKB/Swiss-Prot genetic disease variations for Mastocytosis, Cutaneous:

73
# Symbol AA change Variation ID SNP ID
1 KIT p.Asp816Val VAR_004109 rs121913507
2 KIT p.Asp816Tyr VAR_023828 rs121913506
3 KIT p.Asp816Phe VAR_033133
4 KIT p.Glu839Lys VAR_033136 rs121913509
5 KIT p.Asp816Ile VAR_081064 rs1057519709
6 KIT p.Asn822Ile VAR_081065 rs993022333

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Expression for Mastocytosis, Cutaneous

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Search GEO for disease gene expression data for Mastocytosis, Cutaneous.
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Pathways for Mastocytosis, Cutaneous

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Pathways related to Mastocytosis, Cutaneous according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Akt Signaling 64
Show member pathways
 13.17 TNFRSF8 PDGFRA NTRK1 KITLG KIT IL3
2
PAK Pathway 64
Show member pathways
 12.98 TNFRSF8 PDGFRA NTRK1 KITLG KIT IL3
3
PI3K-Akt signaling pathway 74
Show member pathways
 12.75 PDGFRA NTRK1 KITLG KIT IL3
4
Signaling by Receptor Tyrosine Kinases 66
12.57 PDGFRA NTRK1 KITLG KIT CMA1
5
Overview of interferons-mediated signaling pathway 74
Show member pathways
 12.43 PDGFRA NTRK1 KITLG KIT IL3
6
Malignant pleural mesothelioma 74
12.41 PDGFRA NTRK1 KITLG KIT ASXL1
7
G-protein signaling RAC1 in cellular process 22
Show member pathways
 12.12 IL3 KIT KITLG NTRK1 PDGFRA
8
NF-kappaB Signaling 3
11.95 TNFRSF8 KITLG KIT IL3 CD34 CD2
9
Tyrosine Kinases / Adaptors 3
11.73 PDGFRA NTRK1 KITLG KIT
10
Signaling by SCF-KIT 66
Show member pathways
 11.71 KITLG KIT CMA1
11
Hippo-Merlin signaling dysregulation 74
Show member pathways
 11.65 PDGFRA NTRK1 KIT
12
C-MYB transcription factor network 61
11.57 KITLG KIT CD34
13
G-protein signaling_RhoA regulation pathway 22
11.55 PDGFRA NTRK1 KITLG IL3
14
Pluripotent stem cell differentiation pathway 74
11.18 KITLG KIT IL3
15
Hematopoietic Stem Cells and Lineage-specific Markers 65
11.09 KITLG KIT IL3 CD34 CD2
16
G-protein signaling_Rap2B regulation pathway 22
10.54 PDGFRA NTRK1 KITLG KIT IL3 CD2
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GO Terms for Mastocytosis, Cutaneous

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Biological processes related to Mastocytosis, Cutaneous according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidyl-tyrosine phosphorylation GO:0018108 9.92 PDGFRA NTRK1 KITLG KIT
2 positive regulation of mast cell proliferation GO:0070668 9.56 KITLG KIT
3 mast cell proliferation GO:0070662 9.46 KITLG KIT
4 melanocyte migration GO:0097324 9.26 KITLG KIT
5 embryonic hemopoiesis GO:0035162 9.1 KITLG KIT IL3

Molecular functions related to Mastocytosis, Cutaneous according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.1 PDGFRA NTRK1 KIT
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Sources for Mastocytosis, Cutaneous

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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