Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect
News and Views Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MASTC
MCID: MST024
MIFTS: 67

Mastocytosis, Cutaneous (MASTC)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Mastocytosis, Cutaneous

About this section

MalaCards integrated aliases for Mastocytosis, Cutaneous:

Name: Mastocytosis, Cutaneous 57 73 6 44
Urticaria Pigmentosa 57 12 74 20 58 73 54 44 15
Cutaneous Mastocytosis 12 20 58 6 15 17
Diffuse Cutaneous Mastocytosis 12 20 58 15
Maculopapular Cutaneous Mastocytosis 20 58 17
Diffuse Cutaneous Maculopapulous Mastocytosis 20 58
Mastocytosis, Maculopapular Cutaneous 57 73
Mastocytosis, Diffuse Cutaneous 57 73
Mastocytosis, Systemic, Somatic 57 6
Mastc 57 73
Dcm 20 58
Mastocytosis with Associated Hematologic Disorder 73
Mastocytosis, Systemic 73
Mastocytosis, Indolent 73
Mast Cell Leukemia 73
Mast Cell Disease 73
Mast-Cell Disease 73
Mastocytosis 58
Mastocytoma 20
Up/mpcm 12
Mastsys 73
Cm 12

Characteristics:

Orphanet epidemiological data:

58
cutaneous mastocytosis
Inheritance: Not applicable; Age of onset: Childhood;
diffuse cutaneous mastocytosis
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;
mastocytosis
Prevalence: 1-9/100000 (Europe); Age of onset: All ages;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
mastocytosis, cutaneous:
Inheritance autosomal dominant inheritance


Classifications:

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


Sources

Summaries for Mastocytosis, Cutaneous

About this section
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 05-Mar-2021)

MalaCards based summary : Mastocytosis, Cutaneous, also known as urticaria pigmentosa, is related to cutaneous solitary mastocytoma and systemic mastocytosis with associated hematologic neoplasm. An important gene associated with Mastocytosis, Cutaneous is KIT (KIT Proto-Oncogene, Receptor Tyrosine Kinase), and among its related pathways/superpathways are Innate Immune System and Pathways in cancer. The drugs Protein Kinase Inhibitors and Imatinib Mesylate have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and spleen, and related phenotypes are multiple cafe-au-lait spots and macule

GARD : 20 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 (mutations) in the KIT gene. Most cases are caused by somatic mutations 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. Treatment is usually symptomatic and may include oral antihistamines, topical steroids, and/or photochemotherapy.

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.

Wikipedia : 74 Urticaria pigmentosa (also known as generalized eruption of cutaneous mastocytosis (childhood type) ) is... more...

Sources

Related Diseases for Mastocytosis, Cutaneous

About this section

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

(show top 50) (show all 736)
# Related Disease Score Top Affiliating Genes
1 cutaneous solitary mastocytoma 31.8 SERPINA3 KITLG KIT CMA1 CD2
2 systemic mastocytosis with associated hematologic neoplasm 31.8 TET2 KIT
3 gastrointestinal stromal tumor 31.7 PDGFRA KITLG KIT CD34
4 sm-ahnmd 31.3 TET2 PDGFRA KITLG KIT FIP1L1 CD2
5 systemic mastocytosis 30.8 TET2 PDGFRA KITLG KIT IFNA2 FIP1L1
6 mast-cell leukemia 30.5 KITLG KIT ATP7A
7 exanthem 30.5 KIT ATP4A ATP12A
8 mastocytosis 30.4 TET2 PDGFRA KITLG KIT IL3 IFNA2
9 acute leukemia 30.4 KITLG KIT IL3 CD34
10 spindle cell sarcoma 30.3 SERPINA3 KIT CD34
11 piebald trait 30.3 PDGFRA KITLG KIT
12 hematologic cancer 30.2 SERPINA3 KITLG KIT IL3
13 mast-cell sarcoma 30.2 KITLG KIT FIP1L1 CMA1 CD2
14 bone resorption disease 30.2 SERPINA3 ATP4A ATP12A
15 benign mastocytoma 30.1 KIT CD2
16 hypereosinophilic syndrome 30.1 PDGFRA KIT IL3 IFNA2 FIP1L1
17 chronic eosinophilic leukemia 30.1 TET2 PDGFRA KIT FIP1L1
18 pdgfra-associated chronic eosinophilic leukemia 30.1 PDGFRA FIP1L1
19 myelodysplastic syndrome 30.1 TET2 KITLG KIT IL3 CD34
20 neurofibroma 30.1 PDGFRA KITLG KIT CD34
21 hypereosinophilic syndrome, idiopathic 30.0 PDGFRA KIT IL3 FIP1L1
22 dermatitis, atopic 30.0 TAC1 SERPINA3 KITLG CMA1
23 dysgerminoma of ovary 30.0 KITLG KIT
24 leukemia, acute lymphoblastic 29.9 LYN KITLG KIT IL3 CD34 CD2
25 severe combined immunodeficiency 29.9 KITLG KIT IL3 CD34
26 thrombocytopenia 29.9 PDGFRA KITLG KIT IL3 IFNA2 CD34
27 hemangiopericytoma, malignant 29.9 SERPINA3 KIT CD34
28 pancytopenia 29.8 KIT IL3 CD34 CD2
29 gastroduodenitis 29.8 ATP4A ATP12A
30 polycythemia 29.8 TET2 KITLG IL3
31 extracutaneous mastocytoma 29.7 TET2 KITLG KIT FIP1L1 CD2
32 thrombocytosis 29.7 TET2 KITLG IL3
33 intestinal obstruction 29.6 KIT ATP4A ATP12A
34 myelodysplastic/myeloproliferative neoplasm 29.6 TET2 PDGFRA KIT
35 drug allergy 29.6 MRGPRX2 ATP4A ATP12A
36 b-lymphoblastic leukemia/lymphoma 29.6 KITLG KIT IL3 CD34
37 mast cell neoplasm 29.6 SERPINA3 KITLG KIT IL3 CMA1 CD2
38 acute promyelocytic leukemia 29.5 LYN KITLG IL3 FIP1L1 CD34
39 germ cell cancer 29.5 SERPINA3 KITLG KIT
40 essential thrombocythemia 29.5 TET2 KIT IL3 IFNA2
41 skin melanoma 29.5 SERPINA3 PDGFRA KITLG KIT IFNA2
42 indolent systemic mastocytosis 29.4 TET2 LYN KITLG KIT FIP1L1 CD2
43 constipation 29.4 TAC1 KIT ATP4A ATP12A
44 peripheral nervous system disease 29.4 TAC1 SERPINA3 KIT CD34
45 peptic esophagitis 29.3 LAT2 ATP4A ATP12A
46 lymphoma, non-hodgkin, familial 29.3 SERPINA3 LYN KITLG IL3 CD34
47 leukemia, chronic myeloid 29.2 PDGFRA LYN KITLG KIT IL3 IFNA2
48 myeloproliferative neoplasm 29.2 TET2 PDGFRA KITLG KIT IL3 FIP1L1
49 myelofibrosis 28.9 TET2 LYN KIT IL3 IFNA2 CD34
50 polycythemia vera 28.8 TET2 PDGFRA KITLG KIT IL3 IFNA2

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



Diseases related to Mastocytosis, Cutaneous
Sources

Symptoms & Phenotypes for Mastocytosis, Cutaneous

About this section

Human phenotypes related to Mastocytosis, Cutaneous:

58 31 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 multiple cafe-au-lait spots 58 31 hallmark (90%) Very frequent (99-80%) HP:0007565
2 macule 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0012733
3 hypermelanotic macule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001034
4 papule 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0200034
5 abnormality of skin pigmentation 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%),Very frequent (99-80%) HP:0001000
6 pruritus 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Frequent (79-30%),Very frequent (99-80%) HP:0000989
7 erythroderma 58 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0001019
8 abnormal blistering of the skin 58 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%),Frequent (79-30%) HP:0008066
9 skin plaque 58 31 hallmark (90%) Very frequent (99-80%) HP:0200035
10 cutaneous mastocytosis 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0200151
11 nausea and vomiting 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%),Frequent (79-30%) HP:0002017
12 hypotension 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%),Occasional (29-5%) HP:0002615
13 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
14 dyspnea 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002094
15 headache 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002315
16 thickened skin 58 31 frequent (33%) Frequent (79-30%) HP:0001072
17 diarrhea 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%),Frequent (79-30%) HP:0002014
18 rhinitis 58 31 frequent (33%) Frequent (79-30%) HP:0012384
19 cardiac arrest 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0001695
20 dermatographic urticaria 58 31 frequent (33%) Frequent (79-30%) HP:0011971
21 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
22 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001744
23 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0002240
24 malabsorption 58 31 occasional (7.5%) Occasional (29-5%) HP:0002024
25 fatigue 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0012378
26 osteoporosis 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000939
27 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
28 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
29 telangiectasia of the skin 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0100585
30 sarcoma 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0100242
31 recurrent fractures 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002757
32 leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001909
33 cough 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0012735
34 asthma 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002099
35 gastrointestinal hemorrhage 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0002239
36 hypercalcemia 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0003072
37 increased bone mineral density 58 31 occasional (7.5%) Occasional (29-5%) HP:0011001
38 skin nodule 58 31 occasional (7.5%) Occasional (29-5%) HP:0200036
39 myeloproliferative disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0005547
40 anaphylactic shock 58 31 occasional (7.5%) Occasional (29-5%) HP:0100845
41 urticaria 58 31 Frequent (79-30%),Very frequent (99-80%) HP:0001025
42 respiratory insufficiency 58 Occasional (29-5%)
43 anorexia 58 Occasional (29-5%)
44 arrhythmia 58 Occasional (29-5%),Occasional (29-5%)
45 erythema 31 HP:0010783
46 acute leukemia 58 Occasional (29-5%)
47 chronic leukemia 58 Occasional (29-5%)
48 immunologic hypersensitivity 58 Occasional (29-5%),Occasional (29-5%)
49 mastocytosis 58 Very frequent (99-80%)
50 edema 31 HP:0000969

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 05-Mar-2021)

MGI Mouse Phenotypes related to Mastocytosis, Cutaneous:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.7 ATP12A ATP4A ATP7A KIT KITLG LYN
2 neoplasm MP:0002006 9.43 ATP4A CD34 KIT KITLG PDGFRA TET2
3 renal/urinary system MP:0005367 9.17 ATP12A ATP7A KIT LYN PDGFRA TAC1
Sources

Drugs & Therapeutics for Mastocytosis, Cutaneous

About this section

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

(show top 50) (show all 112)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Protein Kinase Inhibitors Phase 4
2 Imatinib Mesylate Phase 4 220127-57-1 123596
3
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
4
Omalizumab Approved, Investigational Phase 2, Phase 3 242138-07-4
5
Darbepoetin alfa Approved, Investigational Phase 3 209810-58-2, 11096-26-7
6
Iron Approved Phase 3 7439-89-6 23925 29936
7
Cladribine Approved, Investigational Phase 3 4291-63-8 20279
8
Denosumab Approved Phase 3 615258-40-7
9
Ginseng Approved, Investigational, Nutraceutical Phase 3 50647-08-0
10 Anesthetics, Dissociative Phase 3
11 Excitatory Amino Acid Antagonists Phase 3
12 Hematinics Phase 3
13 ferric gluconate Phase 3
14 Iron Supplement Phase 3
15 2-chloro-3'-deoxyadenosine Phase 3
16 Interferon-alpha Phase 3
17 interferons Phase 3
18 Antidepressive Agents Phase 3
19 Proton Pump Inhibitors Phase 3
20 Leukotriene Antagonists Phase 3
21 Histamine Antagonists Phase 3
22 Histamine H1 Antagonists Phase 3
23
midostaurin Approved, Investigational Phase 2 120685-11-2 104937 9829523
24
Doxorubicin Approved, Investigational Phase 1, Phase 2 23214-92-8 31703
25
Bortezomib Approved, Investigational Phase 1, Phase 2 179324-69-7 387447 93860
26
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
27
leucovorin Approved Phase 2 58-05-9 6006
28
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
29
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
30
Denileukin diftitox Approved, Investigational Phase 2 173146-27-5
31
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
32
Busulfan Approved, Investigational Phase 2 55-98-1 2478
33
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
34
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
35
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
36
Mycophenolic acid Approved Phase 2 24280-93-1 446541
37
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
38
Obatoclax Investigational Phase 2 803712-67-6
39 Analgesics Phase 2
40 Epoetin alfa Phase 2 113427-24-0
41
Liposomal doxorubicin Phase 1, Phase 2 31703
42 Nutrients Phase 2
43 Micronutrients Phase 2
44 Trace Elements Phase 2
45 Vitamins Phase 2
46 Antilymphocyte Serum Phase 2
47 Angiogenesis Inhibitors Phase 2
48 Analgesics, Non-Narcotic Phase 2
49 Immunoconjugates Phase 2
50 Interleukin-2 Phase 2

Interventional clinical trials:

(show top 50) (show all 91)
# Name Status NCT ID Phase Drugs
1 Imatinib Mesylate Therapy in Systemic Mastocytosis Patients Lacking KIT Mutations Completed NCT01297777 Phase 4 Imatinib Mesylate
2 A Randomized Double-Blind Controlled Trial of Ketamine Versus Placebo in Conjunction With Best Pain Management in Neuropathic Pain in Cancer Patients Unknown status NCT01316744 Phase 3 ketamine hydrochloride
3 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
4 The Effect of Xolair ® (Omalizumab) in Mastocytosis Patients Prospective Double-blind, Placebo-controlled, Multicentre Study, XOLMA-Study Completed NCT01333293 Phase 2, Phase 3 injections
5 Preparatory Aid to Improve Decision Making About Cancer Clinical Trials (PRE-ACT) Completed NCT00750009 Phase 3
6 The Use of American Ginseng (Panax Quinquefolius) to Improve Cancer-Related Fatigue: A Randomized, Double-Blind, Placebo-Controlled Phase III Study Completed NCT00719563 Phase 3 American ginseng
7 Phase III Randomized Trial of an Opioid Titration Order Sheet Compared to Standard of Care in Patients With Cancer Related Pain. Completed NCT00666211 Phase 3
8 A Phase III, Randomized Study of the Effects of Parenteral Iron, Oral Iron, or No Iron Supplementation on the Erythropoietic Response to Darbepoetin Alfa for Cancer Patients With Chemotherapy-Associated Anemia Completed NCT00661999 Phase 3 sodium ferric gluconate complex in sucrose
9 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
10 Study on Mastocytosis for Rupatadine Treatment An Exploratory Phase IV, Randomised, Double-blind, Placebo Controlled Crossover Study to Assess the Efficacy of 20 mg Rupatadine on the Treatment of Completed NCT01481909 Phase 2, Phase 3 Rupatadin
11 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
12 Interest of Denosumab Treatment in Osteoporosis Associated to Systemic Mastocytosis Recruiting NCT03401060 Phase 3 Denosumab;Placebo
13 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,
14 Multicenter, Open-Label, Single Arm Phase II Clinical Trial of Dasatinib in the Treatment of Systemic Mastocytosis Unknown status NCT00979160 Phase 2 Dasatinib
15 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
16 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)
17 A 12-week With Possible Extension, Prospective, Multicenter, Randomized, Open-label, 2-parallel Group, Phase IIa Study to Compare Efficacy and Safety of AB1010 at 3 or 6 mg/kg/Day in Treatment of Patients With Mastocytosis With Handicap and Bearing Activating Point Mutations in the Phosphotransferase Domain of c-Kit Such as the Main Mutation Asp-816-Val (D816V) Completed NCT01266369 Phase 2 masitinib
18 Phase IIa, Open-label, Randomized Study of Oral AB1010 in Patients With Systemic Indolent Mastocytosis With Handicap and Not Bearing Activating Point Mutations in the Phosphotransferase Domain of c-Kit Such as the Main Mutation Asp-816-Val (D816V) Completed NCT00831974 Phase 2 masitinib (AB1010);masitinib (AB1010)
19 RC05CB A Pilot, Randomized Comparison of Standard Weekly Epoetin Alfa to Every-3-Week-Epoetin Alfa and Every 3-Week Darbepoetin Alfa Completed NCT00416624 Phase 2 darbepoetin alfa;epoetin alfa
20 A Phase I Evaluation of the Combination of Pegylated Liposomal Doxorubicin (Doxil®) With PS-341 in Patients With Refractory Hematologic and Solid Malignancies Completed NCT00237627 Phase 1, Phase 2 PS-341;Doxil;Velcade
21 Unrelated Donor Hematopoietic Stem Cell Transplantation After Nonmyeloablative Conditioning For Patients With Hematological Malignancies Completed NCT00627666 Phase 2 busulfan;fludarabine phosphate;leucovorin calcium;methotrexate
22 Donor NK Cell Infusion for Progression/Recurrence of Underlying Malignant Disorders After HLA-haploidentical HCT - a Phase 1-2 Study Completed NCT00823524 Phase 1, Phase 2
23 Efficacy and Safety of TF002 in Cutaneous Mastocytosis Completed NCT00457288 Phase 2 TF 002
24 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
25 Phase II Study of Thalidomide in Mastocytosis Completed NCT00769587 Phase 2 thalidomide
26 Evaluation of RAD001 as Therapy for Patients With Systemic Mastocytosis Completed NCT00449748 Phase 2 RAD001 (Everolimus)
27 Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes Completed NCT00171912 Phase 2 imatinib mesylate
28 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
29 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
30 Low Intensity Preparative Regimen Followed by HLA-Matched, Mobilized Peripheral Blood Stem Cell Transplantation for Systemic Mastocytosis Completed NCT00006413 Phase 2
31 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
32 ONTAK (Denileukin Diftitox) in Patients With Systemic Mastocytosis Completed NCT00493129 Phase 2 Ontak (Denileukin Diftitox)
33 Therapy of Myeloid Metaplasia-Myelofibrosis, Atypical Chronic Myeloid or Myelomonocytic Leukemia, C-Kit Positive Acute Myeloid Leukemia (AML) or High-Risk Myelodysplastic Syndrome (AML-MDS), Hypereosinophilic Syndrome, Polycythemia Vera, and Mastocytosis With Dasatinib (BMS-354825) Completed NCT00255346 Phase 2 Dasatinib (BMS-354825)
34 GTB-3550 (CD16/IL-15/CD33)Tri-Specific Killer Engager (TriKEâ„¢) for the Treatment of High Risk Myelodysplastic Syndromes, Refractory/Relapsed Acute Myeloid Leukemia and Advanced Systemic Mastocytosis Recruiting NCT03214666 Phase 1, Phase 2 GTB-3550 TriKEâ„¢ Phase I;GTB-3550 TriKEâ„¢ Phase II
35 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
36 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 Recruiting NCT03731260 Phase 2 Avapritinib;Placebo
37 Tagraxofusp (SL-401) in Patients With Chronic Myelomonocytic Leukemia (CMML) or Myelofibrosis (MF). [Prior Title: SL-401 in Patients With Advanced, High Risk Myeloproliferative Neoplasms (Systemic Mastocytosis, Advanced Symptomatic Primary Eosinophilic Disorder, Myelofibrosis, Chronic Myelomonocytic Leukemia).] Recruiting NCT02268253 Phase 2 SL-401
38 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
39 A Two Step Approach to Reduced Intensity Allogeneic Hematopoietic Stem Cell Transplantation for Patients With Hematologic Malignancies Active, not recruiting NCT01384513 Phase 2 Fludarabine;Busulfan;Cyclophosphamide (CY);Tacrolimus;Mycophenolate mofetil
40 A Phase 2 Study of Ibrutinib in Advanced Systemic Mastocytosis Terminated NCT02415608 Phase 2 Ibrutinib
41 Evaluation of Obatoclax Mesylate as Therapy for Patients With Systemic Mastocytosis Terminated NCT00918931 Phase 2 Obatoclax Mesylate
42 A Phase II Exploratory Study Evaluating the Efficacy of Topical Cromoglicate Solution Compared to Topical Solution Vehicle in the Treatment of Mastocytosis Terminated NCT01701843 Phase 2 Cromoglicate;Placebo
43 Multi-Center, Prospective, Randomized, Double-Blinded, Controlled Clinical Trial to Evaluate the Safety and Effectiveness of an Antimicrobial Catheter Lock Solution in Maintaining Catheter Patency and Preventing Catheter Related Blood Stream Infections (CRBSI) Withdrawn NCT01101412 Phase 1, Phase 2 Edetate Calcium Disodium;Ethanol;Trimethoprim-sulfamethoxazole
44 A Phase 2 Study to Evaluate the Anti-Tumor Activity of Single Agent Flotetuzumab in Advanced CD123-Positive Hematological Malignancies Withdrawn NCT03739606 Phase 2
45 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
46 A Multicenter Phase 1, Open-Label Study of DCC-2618 to Assess Safety, Tolerability, and Pharmacokinetics in Patients With Advanced Malignancies Recruiting NCT02571036 Phase 1 DCC-2618;DCC-2618
47 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
48 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
49 Descriptive Study to Evaluate the Information and Psychosocial Issues on the Risk on Infertility in Cancer Patients After Receiving Treatment in a Comprehensive Cancer Center Unknown status NCT01295463
50 Ancillary Laboratory Protocol For the Collection of Diagnostic Material On Patients Considered For ECOG Treatment Trials For Leukemia Or Related Hematologic Disorders Unknown status NCT00897767

Search NIH Clinical Center for Mastocytosis, Cutaneous

Cochrane evidence based reviews: mastocytosis, cutaneous

Sources

Genetic Tests for Mastocytosis, Cutaneous

About this section
Sources

Anatomical Context for Mastocytosis, Cutaneous

About this section

MalaCards organs/tissues related to Mastocytosis, Cutaneous:

40
Skin, Bone, Spleen, Myeloid, Bone Marrow, Liver, Smooth Muscle
Sources

Publications for Mastocytosis, Cutaneous

About this section

Articles related to Mastocytosis, Cutaneous:

(show top 50) (show all 886)
# 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. 61 54 6 57
8589724 1996
2
Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis. 57 6 61
21689725 2011
3
Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. 57 6
19865100 2010
4
Frequent TET2 mutations in systemic mastocytosis: clinical, KITD816V and FIP1L1-PDGFRA correlates. 57 6
19262599 2009
5
A germline mutation in KIT in familial diffuse cutaneous mastocytosis. 6 57
15173254 2004
6
Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. 6 57
9990072 1999
7
Clinical correlates of the presence of the Asp816Val c-kit mutation in the peripheral blood mononuclear cells of patients with mastocytosis. 57 6
9827716 1998
8
A new c-kit mutation in a case of aggressive mast cell disease. 57 6
9029028 1997
9
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. 57 6
7479840 1995
10
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. 57 6
7691885 1993
11
Lack of c-kit mutation in familial urticaria pigmentosa. 61 57 54
10354021 1999
12
Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa. 6 61
11505412 2001
13
Concordant urticaria pigmentosa in a couple of identical twins. A five-year follow-up. 57 61
8651038 1995
14
Urticaria pigmentosa in monozygotic twins. 61 57
2221954 1990
15
Familial urticaria pigmentosa. 57 61
2383167 1990
16
Familial urticaria pigmentosa. 61 57
3455808 1986
17
Familial urticaria pigmentosa with giant mast cell granules. A clinical, light, and electron microscopic study. 61 57
7316532 1981
18
Urticaria pigmentosa in identical twins. 57 61
567043 1978
19
Genetic aspects of urticaria pigmentosa. 61 57
5636045 1968
20
Familial urticaria pigmentosa: report of a family and review of the role of KIT mutations. 61 20
22892471 2013
21
KIT masters mast cells in kids, too. 57
20145643 2010
22
A novel K509I mutation of KIT identified in familial mastocytosis-in vitro and in vivo responsiveness to imatinib therapy. 57
16183119 2006
23
c-kit Mutations in patients with childhood-onset mastocytosis and genotype-phenotype correlation. 57
15858149 2005
24
The Kit-activating mutation D816V enhances stem cell factor--dependent chemotaxis. 6
11493470 2001
25
Mutation analysis of C-KIT in patients with myelodysplastic syndromes without mastocytosis and cases of systemic mastocytosis. 6
11380399 2001
26
Isoforms of c-KIT differ in activation of signalling pathways and transformation of NIH3T3 fibroblasts. 57
10523834 1999
27
Familial mastocytosis: a clinical, immunophenotypic, light and electron microscopic study. 57
1836952 1991
28
The familial occurrence of bullous mastocytosis (diffuse cutaneous mastocytosis). 57
2241201 1990
29
[Familial mastocytosis. Presentation of 2 cases. General review. Nosologic importance]. 57
5124753 1971
30
Uniovular twins discordant for cutaneous mastocytosis. 57
4250565 1970
31
Mastocytosis. A clinical genetic evaluation. 57
5424687 1970
32
Mast cell disease. A cutaneous variant with multisystem involvement. 57
4235166 1968
33
Enhanced expression of SCF in the dermis is a prognostic factor for the regression of urticaria pigmentosa. 54 61
10586131 1999
34
Chronically KIT-stimulated clonally-derived human mast cells show heterogeneity in different tissue microenvironments. 61 54
9129234 1997
35
Expression of stem cell factor in cutaneous mastocytosis. 54 61
7547385 1995
36
Human dermal endothelial cells express membrane-associated mast cell growth factor. 61 54
7528242 1995
37
Cutaneous mastocytosis: A dermatological perspective. 61
33040350 2021
38
Urticaria Pigmentosa in a Child: Special Considerations for Vaccines, Dietary Concerns, and Other Management. 61
33593685 2021
39
A New Digital Method for Counting Mast Cells in Cutaneous Specific Lesions of Mastocytosis: A Series of Adult Cases of Mastocytosis With Clinical-Pathological Correlations. 61
32568831 2021
40
Genotypic and phenotypic characteristics of Chinese neonates with cutaneous mastocytosis: a case report and literature review. 61
32883129 2020
41
Localized Grain-Leather Plaque in Urticaria Pigmentosa - An Unusual Coexistence of Dual Morphology. 61
33235849 2020
42
Urticaria Pigmentosa. 61
32444224 2020
43
Pseudoxanthomatous or xanthelasmoid mastocytosis: Reporting a rare entity. 61
30785120 2020
44
Dermoscopy of Urticaria Pigmentosa. 61
32695725 2020
45
The co-existence of cutaneous melanoma and urticaria pigmentosa in a patient with Becker's nevus. 61
31803997 2020
46
Aleukemic leukemia cutis mimicking urticaria pigmentosa in a patient of T-cell acute lymphoblastic leukemia. 61
31397398 2020
47
Urticaria pigmentosa in monochorionic twins. 61
31389368 2019
48
Dermatoscopy of Urticaria Pigmentosa with and without Darier's Sign in Skin of Colour. 61
31544081 2019
49
Cutaneous hyperpigmentation and familial gastrointestinal stromal tumour associated with KIT mutation. 61
30280421 2019
50
Feline maculopapular cutaneous mastocytosis: a retrospective study of 13 cases and proposal for a new classification. 61
29860905 2019
Sources

Variations for Mastocytosis, Cutaneous

About this section

ClinVar genetic disease variations for Mastocytosis, Cutaneous:

6 (show top 50) (show all 106)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KIT NM_000222.2(KIT):c.2459A>G (p.Asp820Gly) SNV Pathogenic 13853 rs121913682 4:55599333-55599333 4:54733167-54733167
2 KIT NM_000222.2(KIT):c.2515G>A (p.Glu839Lys) SNV Pathogenic 13862 rs121913509 4:55602694-55602694 4:54736528-54736528
3 KIT NM_000222.2(KIT):c.1676T>C (p.Val559Ala) SNV Pathogenic 13865 rs121913517 4:55593610-55593610 4:54727444-54727444
4 KIT NM_000222.3(KIT):c.2447A>T SNV Pathogenic 13852 rs121913507 4:55599321-55599321 4:54733155-54733155
5 KIT NM_000222.3(KIT):c.2447A>T SNV Pathogenic 13852 rs121913507 4:55599321-55599321 4:54733155-54733155
6 KIT NM_000222.2(KIT):c.1598C>A (p.Ala533Asp) SNV Pathogenic 545643 rs753212327 4:55593441-55593441 4:54727275-54727275
7 KIT KIT, ASN822ILE Variation Pathogenic 545644
8 KIT NM_000222.2(KIT):c.1616T>C (p.Ile539Thr) SNV Uncertain significance 409729 rs781371383 4:55593459-55593459 4:54727293-54727293
9 KIT NM_000222.3(KIT):c.615G>A (p.Arg205=) SNV Uncertain significance 900191 4:55564727-55564727 4:54698561-54698561
10 KIT NM_000222.2(KIT):c.1185C>A (p.Ser395=) SNV Uncertain significance 528635 rs755864184 4:55575659-55575659 4:54709493-54709493
11 KIT NM_000222.2(KIT):c.1264G>A (p.Val422Met) SNV Uncertain significance 576821 rs1560414398 4:55589782-55589782 4:54723616-54723616
12 KIT NM_000222.2(KIT):c.200C>G (p.Thr67Ser) SNV Uncertain significance 237252 rs144933028 4:55561810-55561810 4:54695644-54695644
13 KIT NM_000222.2(KIT):c.302A>G (p.His101Arg) SNV Uncertain significance 458940 rs1274601103 4:55561912-55561912 4:54695746-54695746
14 KIT NM_000222.2(KIT):c.1553C>T (p.Pro518Leu) SNV Uncertain significance 237245 rs569408054 4:55593396-55593396 4:54727230-54727230
15 KIT NM_000222.2(KIT):c.2057G>A (p.Arg686His) SNV Uncertain significance 458902 rs143772138 4:55595567-55595567 4:54729401-54729401
16 KIT NM_000222.2(KIT):c.2104C>G (p.Leu702Val) SNV Uncertain significance 409779 rs768847037 4:55595614-55595614 4:54729448-54729448
17 KIT NM_000222.2(KIT):c.2294A>G (p.Asp765Gly) SNV Uncertain significance 409730 rs1060502545 4:55598097-55598097 4:54731931-54731931
18 KIT NM_000222.2(KIT):c.2836C>T (p.Arg946Ter) SNV Uncertain significance 576610 rs139000082 4:55604628-55604628 4:54738462-54738462
19 KIT NM_000222.2(KIT):c.2863G>T (p.Val955Leu) SNV Uncertain significance 409783 rs1060502568 4:55604655-55604655 4:54738489-54738489
20 KIT NM_000222.2(KIT):c.2881G>A (p.Gly961Ser) SNV Uncertain significance 237271 rs773828910 4:55604673-55604673 4:54738507-54738507
21 KIT NM_000222.2(KIT):c.2887A>G (p.Thr963Ala) SNV Uncertain significance 409774 rs773709702 4:55604679-55604679 4:54738513-54738513
22 KIT NM_000222.2(KIT):c.2900C>G (p.Ser967Cys) SNV Uncertain significance 458936 rs1232060384 4:55604692-55604692 4:54738526-54738526
23 KIT NM_000222.3(KIT):c.*701A>G SNV Uncertain significance 899420 4:55605424-55605424 4:54739258-54739258
24 KIT NM_000222.3(KIT):c.*1577T>C SNV Uncertain significance 899466 4:55606300-55606300 4:54740134-54740134
25 KIT NM_000222.3(KIT):c.78A>C (p.Gln26His) SNV Uncertain significance 857769 4:55561688-55561688 4:54695522-54695522
26 KIT NM_000222.2(KIT):c.1889A>G (p.His630Arg) SNV Uncertain significance 409727 rs373554876 4:55594186-55594186 4:54728020-54728020
27 KIT NM_000222.2(KIT):c.2118T>G (p.Leu706=) SNV Uncertain significance 237254 rs766840704 4:55595628-55595628 4:54729462-54729462
28 KIT NM_000222.2(KIT):c.148G>T (p.Val50Leu) SNV Uncertain significance 409722 rs200950545 4:55561758-55561758 4:54695592-54695592
29 KIT NM_000222.3(KIT):c.211C>G (p.Leu71Val) SNV Uncertain significance 901844 4:55561821-55561821 4:54695655-54695655
30 KIT NM_000222.2(KIT):c.2923G>C (p.Asp975His) SNV Uncertain significance 348956 rs373152714 4:55604715-55604715 4:54738549-54738549
31 KIT NM_000222.2(KIT):c.*1059C>T SNV Uncertain significance 348966 rs886059467 4:55605782-55605782 4:54739616-54739616
32 KIT NM_000222.2(KIT):c.*1086C>T SNV Uncertain significance 348967 rs533152310 4:55605809-55605809 4:54739643-54739643
33 KIT NM_000222.2(KIT):c.*1101A>G SNV Uncertain significance 348968 rs886059468 4:55605824-55605824 4:54739658-54739658
34 KIT NM_000222.2(KIT):c.*198A>G SNV Uncertain significance 348958 rs886059464 4:55604921-55604921 4:54738755-54738755
35 KIT NM_000222.2(KIT):c.*1808A>G SNV Uncertain significance 348974 rs762662037 4:55606531-55606531 4:54740365-54740365
36 KIT NM_000222.2(KIT):c.2670C>T (p.Leu890=) SNV Uncertain significance 237268 rs745967881 4:55602960-55602960 4:54736794-54736794
37 KIT NM_000222.2(KIT):c.*368C>T SNV Uncertain significance 348962 rs886059465 4:55605091-55605091 4:54738925-54738925
38 KIT NM_000222.2(KIT):c.*393A>G SNV Uncertain significance 348963 rs886059466 4:55605116-55605116 4:54738950-54738950
39 KIT NM_000222.2(KIT):c.1274T>A (p.Met425Lys) SNV Uncertain significance 237238 rs878853760 4:55589792-55589792 4:54723626-54723626
40 KIT NM_000222.2(KIT):c.*1487_*1490del Deletion Uncertain significance 348970 rs374796688 4:55606208-55606211 4:54740042-54740045
41 KIT NM_000222.2(KIT):c.*597C>T SNV Uncertain significance 348964 rs746982052 4:55605320-55605320 4:54739154-54739154
42 KIT NM_000222.2(KIT):c.*252G>T SNV Uncertain significance 348960 rs376694515 4:55604975-55604975 4:54738809-54738809
43 KIT NM_000222.2(KIT):c.301C>T (p.His101Tyr) SNV Uncertain significance 348954 rs781130745 4:55561911-55561911 4:54695745-54695745
44 KIT NM_000222.2(KIT):c.952A>G (p.Met318Val) SNV Uncertain significance 161260 rs143388949 4:55573290-55573290 4:54707124-54707124
45 KIT NM_000222.2(KIT):c.978C>T (p.Asn326=) SNV Uncertain significance 458979 rs148594615 4:55573316-55573316 4:54707150-54707150
46 KIT NM_000222.3(KIT):c.*17G>A SNV Uncertain significance 902104 4:55604740-55604740 4:54738574-54738574
47 KIT NM_000222.3(KIT):c.*381C>T SNV Uncertain significance 902162 4:55605104-55605104 4:54738938-54738938
48 KIT NM_000222.3(KIT):c.*390A>G SNV Uncertain significance 902163 4:55605113-55605113 4:54738947-54738947
49 KIT NM_000222.3(KIT):c.*1087G>C SNV Uncertain significance 902211 4:55605810-55605810 4:54739644-54739644
50 KIT NM_000222.3(KIT):c.*2041A>G SNV Uncertain significance 902288 4:55606764-55606764 4:54740598-54740598

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 rs105751970
6 KIT p.Asn822Ile VAR_081065 rs993022333

Sources

Expression for Mastocytosis, Cutaneous

About this section
Search GEO for disease gene expression data for Mastocytosis, Cutaneous.
Sources

Pathways for Mastocytosis, Cutaneous

About this section

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 13.82 SERPINA3 PDGFRA LYN LAT2 KITLG KIT
2
Pathways in cancer 36
12.62 PDGFRA KITLG KIT IL3 IFNA2
3
NF-kappaB Signaling 4
12.01 LYN LAT2 KITLG KIT IL3 CD34
4
Immune response IFN alpha/beta signaling pathway 23
Show member pathways
 11.93 PDGFRA KITLG KIT IL3 IFNA2
5
Kit receptor signaling pathway 1
Show member pathways
 11.91 LYN KITLG KIT IL3
6
Tyrosine Kinases / Adaptors 4
11.84 PDGFRA LYN KITLG KIT
7
C-MYB transcription factor network 1
11.55 KITLG KIT CD34
8
Hematopoietic cell lineage 36
11.55 KITLG KIT IL3 CD34 CD2
9
Dendritic Cells Developmental Lineage Pathway 64
11.5 KIT IFNA2 CD34
10
Differentiation Pathway 1
11.29 KITLG KIT IL3
11
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.16 KITLG KIT IL3 IFNA2 CD34 CD2
12
G-protein signaling_Rap2B regulation pathway 23
10.81 PDGFRA KITLG KIT IL3 CD2
13
Regulation of KIT signaling 65
10.64 LYN KITLG KIT
Sources

GO Terms for Mastocytosis, Cutaneous

About this section

Cellular components related to Mastocytosis, Cutaneous according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.93 TAC1 PDGFRA MRGPRX2 LYN LAT2 KITLG
2 membrane raft GO:0045121 9.26 LYN LAT2 CD2 ATP7A
3 extracellular space GO:0005615 9.23 TAC1 SERPINA3 KITLG KIT IL3 IFNA2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.85 PDGFRA LYN KITLG KIT IL3
2 MAPK cascade GO:0000165 9.8 PDGFRA KITLG KIT IL3
3 inflammatory response GO:0006954 9.77 TAC1 SERPINA3 LYN KIT IFNA2
4 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.65 PDGFRA LYN KIT
5 hemopoiesis GO:0030097 9.61 LYN KIT CD34
6 sodium ion export across plasma membrane GO:0036376 9.55 ATP4A ATP12A
7 cellular potassium ion homeostasis GO:0030007 9.54 ATP4A ATP12A
8 positive regulation of phospholipase C activity GO:0010863 9.52 PDGFRA KIT
9 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.51 ATP4A ATP12A
10 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.5 PDGFRA LYN KIT
11 ectopic germ cell programmed cell death GO:0035234 9.4 KITLG KIT
12 embryonic hemopoiesis GO:0035162 9.33 KITLG KIT IL3
13 positive regulation of mast cell proliferation GO:0070668 9.26 LYN KITLG
14 mast cell degranulation GO:0043303 9.13 MRGPRX2 LAT2 KIT
15 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 8.92 LYN KIT IL3 IFNA2

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

# Name GO ID Score Top Affiliating Genes
1 cation-transporting ATPase activity GO:0019829 9.32 ATP7A ATP12A
2 platelet-derived growth factor receptor binding GO:0005161 9.26 PDGFRA LYN
3 sodium:potassium-exchanging ATPase activity GO:0005391 9.16 ATP4A ATP12A
4 potassium-transporting ATPase activity GO:0008556 8.96 ATP4A ATP12A
5 potassium:proton exchanging ATPase activity GO:0008900 8.62 ATP4A ATP12A
Sources

Sources for Mastocytosis, Cutaneous

About this section
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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
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
Content
Loading form....