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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
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Aliases & Classifications for Mastocytosis, Cutaneous

About this section

MalaCards integrated aliases for Mastocytosis, Cutaneous:

Name: Mastocytosis, Cutaneous 56 73 43
Urticaria Pigmentosa 56 12 74 52 58 73 54 43 15
Cutaneous Mastocytosis 12 52 58 6 15 17
Diffuse Cutaneous Mastocytosis 12 52 58 15
Maculopapular Cutaneous Mastocytosis 52 58 17
Mast Cell Leukemia 73 29 6
Mast Cell Disease 73 13 39
Diffuse Cutaneous Maculopapulous Mastocytosis 52 58
Mastocytosis, Maculopapular Cutaneous 56 73
Mastocytosis, Diffuse Cutaneous 56 73
Mastocytosis, Systemic, Somatic 56 6
Mastocytoma 52 54
Mastc 56 73
Dcm 52 58
Mastocytosis with Associated Hematologic Disorder 73
Mastocytosis, Systemic 73
Mastocytosis, Indolent 73
Mast-Cell Disease 73
Mastocytosis 58
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:

56
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 : 56 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)

MalaCards based summary : Mastocytosis, Cutaneous, also known as urticaria pigmentosa, is related to systemic mastocytosis with associated hematologic neoplasm and cutaneous solitary mastocytoma. 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 NF-kappaB Signaling. The drugs Protein Kinase Inhibitors and Imatinib Mesylate have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and liver, and related phenotypes are abnormal blistering of the skin and pruritus

NIH Rare Diseases : 52 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 1215)
# Related Disease Score Top Affiliating Genes
1 systemic mastocytosis with associated hematologic neoplasm 34.1 TET2 KIT
2 cutaneous solitary mastocytoma 33.4 SERPINA3 KITLG KIT CMA1 CD2
3 gastrointestinal stromal tumor 32.5 PDGFRA KITLG KIT CD34
4 sm-ahnmd 32.4 TET2 PDGFRA KITLG KIT FIP1L1 CD2
5 undifferentiated pleomorphic sarcoma 32.0 PDGFRA KIT
6 breast malignant phyllodes tumor 31.5 SERPINA3 KIT CD34
7 mastocytosis 31.2 TNFRSF8 TET2 PDGFRA KITLG KIT IL3
8 reticulohistiocytic granuloma 31.0 SERPINA3 CD68
9 dowling-degos disease 1 30.7 KITLG KIT
10 hypereosinophilic syndrome 30.7 PDGFRA KIT IL3 FIP1L1
11 chronic eosinophilic leukemia 30.6 TET2 PDGFRA KIT FIP1L1
12 leiomyoma 30.5 PDGFRA KIT CD34
13 piebald trait 30.5 PDGFRA KITLG KIT
14 parapsoriasis 30.5 TNFRSF8 CD2
15 polycythemia 30.4 TET2 KITLG IL3
16 pdgfra-associated chronic eosinophilic leukemia 30.4 PDGFRA FIP1L1
17 mast-cell sarcoma 30.3 KITLG KIT FIP1L1 CMA1 CD2
18 mast-cell leukemia 30.3 TNFRSF8 KITLG KIT ATP7A
19 hypereosinophilic syndrome, idiopathic 30.3 PDGFRA KIT IL3 FIP1L1
20 thrombocytosis 30.3 TET2 KITLG IL3
21 myoma 30.2 KITLG KIT CD34
22 refractory anemia 30.2 TET2 IL3
23 neurofibroma 30.2 PDGFRA KITLG KIT CD34
24 reticulum cell sarcoma 30.2 TNFRSF8 CD2
25 extracutaneous mastocytoma 30.1 TET2 KITLG KIT FIP1L1 CD2
26 retroperitoneal leiomyosarcoma 30.1 KIT CD34
27 pleomorphic lipoma 30.0 SERPINA3 CD34
28 hemangiopericytoma, malignant 30.0 SERPINA3 KIT CD34
29 severe combined immunodeficiency 29.9 KITLG KIT IL3 CD34
30 lipomatosis, multiple 29.9 SERPINA3 KIT CD34
31 leukemia, acute lymphoblastic 29.9 LYN KITLG KIT IL3 CD34
32 leiomyosarcoma 29.8 SERPINA3 PDGFRA KIT
33 myeloma, multiple 29.7 TNFRSF8 KIT IL3 CD34 CD2
34 indolent systemic mastocytosis 29.7 TET2 KITLG KIT FIP1L1 CD2 ATP7A
35 neurilemmoma 29.6 SERPINA3 PDGFRA KIT CD34
36 hematologic cancer 29.6 TNFRSF8 SERPINA3 KITLG KIT IL3 CD34
37 myeloid sarcoma 29.6 KIT CD68 CD34
38 intestinal obstruction 29.6 SERPINA3 KIT CD34
39 polycythemia vera 29.6 TET2 PDGFRA KITLG KIT IL3 FIP1L1
40 myeloproliferative neoplasm 29.6 TET2 PDGFRA KITLG KIT IL3 FIP1L1
41 myelofibrosis 29.4 TET2 LYN KIT IL3 CD34
42 blood coagulation disease 29.4 SERPINA3 KIT IL3 CD34
43 angiosarcoma 29.3 KIT CD68 CD34
44 non-langerhans-cell histiocytosis 29.3 SERPINA3 CD68
45 aggressive systemic mastocytosis 29.2 TNFRSF8 PDGFRA KITLG KIT FIP1L1 CD2
46 cavernous hemangioma 29.2 SERPINA3 PDGFRA KIT CD34
47 neuroma 29.2 SERPINA3 CD68 CD34
48 leukemia, chronic lymphocytic 29.1 TNFRSF8 LYN KIT CD34 CD2
49 acute promyelocytic leukemia 29.1 LYN KITLG IL3 FIP1L1 CTSG CD34
50 histiocytoma 29.1 SERPINA3 KIT CD68 CD34

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 abnormal blistering of the skin 58 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%),Frequent (79-30%) HP:0008066
2 pruritus 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%),Very frequent (99-80%),Very frequent (99-80%) HP:0000989
3 hypermelanotic macule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001034
4 macule 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0012733
5 papule 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0200034
6 abnormality of skin pigmentation 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%),Very frequent (99-80%) HP:0001000
7 multiple cafe-au-lait spots 58 31 hallmark (90%) Very frequent (99-80%) HP:0007565
8 erythroderma 58 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0001019
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 dyspnea 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002094
14 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
15 thickened skin 58 31 frequent (33%) Frequent (79-30%) HP:0001072
16 headache 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002315
17 diarrhea 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%),Frequent (79-30%) HP:0002014
18 cardiac arrest 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0001695
19 rhinitis 58 31 frequent (33%) Frequent (79-30%) HP:0012384
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 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
26 fatigue 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0012378
27 osteoporosis 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000939
28 telangiectasia of the skin 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0100585
29 gastrointestinal hemorrhage 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0002239
30 cough 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0012735
31 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
32 sarcoma 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0100242
33 asthma 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002099
34 recurrent fractures 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002757
35 leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001909
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 arrhythmia 58 Occasional (29-5%),Occasional (29-5%)
44 edema 31 HP:0000969
45 erythema 31 HP:0010783
46 anorexia 58 Occasional (29-5%)
47 impaired temperature sensation 58 Frequent (79-30%)
48 acute leukemia 58 Occasional (29-5%)
49 chronic leukemia 58 Occasional (29-5%)
50 immunologic hypersensitivity 58 Occasional (29-5%),Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
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

GenomeRNAi Phenotypes related to Mastocytosis, Cutaneous according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in HMC1.1 cells GR00105-A-0 8.62 KIT LYN

MGI Mouse Phenotypes related to Mastocytosis, Cutaneous:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.03 ATP7A CD34 CD68 CMA1 CTSG HDC
2 immune system MP:0005387 9.93 ATP7A CD34 CD68 CMA1 CTSG HDC
3 integument MP:0010771 9.56 ATP7A CD34 HDC KIT KITLG LYN
4 neoplasm MP:0002006 9.1 CD34 CTSG KIT KITLG PDGFRA TET2
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 120)
# 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
Cladribine Approved, Investigational Phase 3 4291-63-8 20279
5
Omalizumab Approved, Investigational Phase 2, Phase 3 242138-07-4
6
Darbepoetin alfa Approved, Investigational Phase 3 209810-58-2, 11096-26-7
7
Denosumab Approved Phase 3 615258-40-7
8
Ginseng Approved, Investigational, Nutraceutical Phase 3 50647-08-0
9 Anesthetics Phase 3
10 Anesthetics, General Phase 3
11 Anesthetics, Intravenous Phase 3
12 Anesthetics, Dissociative Phase 3
13 Excitatory Amino Acid Antagonists Phase 3
14 Excitatory Amino Acids Phase 3
15 2-chloro-3'-deoxyadenosine Phase 3
16 Proton Pump Inhibitors Phase 3
17 Histamine Antagonists Phase 3
18 Leukotriene Antagonists Phase 3
19 Histamine H1 Antagonists Phase 3
20 Antidepressive Agents Phase 3
21 interferons Phase 3
22 Interferon-alpha Phase 3
23 Analgesics Phase 3
24 Anti-Allergic Agents Phase 2, Phase 3
25 Central Nervous System Depressants Phase 3
26 Analgesics, Opioid Phase 3
27 Narcotics Phase 3
28 Hematinics Phase 3
29 ferric gluconate Phase 3
30 Iron Supplement Phase 3
31 Ferric Compounds Phase 3
32
midostaurin Approved, Investigational Phase 2 120685-11-2 104937 9829523
33
Denileukin diftitox Approved, Investigational Phase 2 173146-27-5
34
Bortezomib Approved, Investigational Phase 1, Phase 2 179324-69-7 387447 93860
35
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
36
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
37
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
38
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
39
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
40
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
41
Levoleucovorin Approved, Investigational Phase 2 68538-85-2
42
Doxorubicin Approved, Investigational Phase 1, Phase 2 23214-92-8 31703
43
Secretin Approved Phase 1, Phase 2 108153-74-8
44
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
45
Racepinephrine Approved Phase 2 329-65-7 838
46
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
47
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
48
Busulfan Approved, Investigational Phase 2 55-98-1 2478
49
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
50
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704

Interventional clinical trials:

(show top 50) (show all 101)
# 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 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
4 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
5 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
6 The Effect of Xolair ® (Omalizumab) in Mastocytosis Patients Prospective Double-blind, Placebo-controlled, Multicentre Study, XOLMA-Study Completed NCT01333293 Phase 2, Phase 3 injections
7 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
8 Preparatory Aid to Improve Decision Making About Cancer Clinical Trials (PRE-ACT) Completed NCT00750009 Phase 3
9 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
10 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
11 Interest of Denosumab Treatment in Osteoporosis Associated to Systemic Mastocytosis Recruiting NCT03401060 Phase 3 Denosumab;Placebo
12 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,
13 Multicenter, Open-Label, Single Arm Phase II Clinical Trial of Dasatinib in the Treatment of Systemic Mastocytosis Unknown status NCT00979160 Phase 2 Dasatinib
14 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
15 Efficacy and Safety of TF002 in Cutaneous Mastocytosis Completed NCT00457288 Phase 2 TF 002
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 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
18 ONTAK (Denileukin Diftitox) in Patients With Systemic Mastocytosis Completed NCT00493129 Phase 2 Ontak (Denileukin Diftitox)
19 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)
20 Phase II Study of Thalidomide in Mastocytosis Completed NCT00769587 Phase 2 thalidomide
21 Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases Completed NCT00154388 Phase 2 Imatinib mesylate
22 Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes Completed NCT00171912 Phase 2 imatinib mesylate
23 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
24 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
25 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
26 Low Intensity Preparative Regimen Followed by HLA-Matched, Mobilized Peripheral Blood Stem Cell Transplantation for Systemic Mastocytosis Completed NCT00006413 Phase 2
27 Evaluation of RAD001 as Therapy for Patients With Systemic Mastocytosis Completed NCT00449748 Phase 2 RAD001 (Everolimus)
28 Evaluation of the Efficacy of Sunitinib® in Patients With Recurrent Ovarian Clear Cell Carcinoma Completed NCT01824615 Phase 2 Sunitinib
29 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
30 The Effectiveness of UVB Irradiation in the Treatment of Skin Conditions With Altered Dermal Matrix: An Open Pilot Study Completed NCT00129428 Phase 1, Phase 2
31 Unrelated Donor Hematopoietic Stem Cell Transplantation After Nonmyeloablative Conditioning For Patients With Hematological Malignancies Completed NCT00627666 Phase 2 busulfan;fludarabine phosphate;leucovorin calcium;methotrexate
32 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)
33 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
34 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
35 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
36 Effect of Secretin on Gastric Accommodation, Emptying and Post-nutrient Challenge Symptoms in Functional Dyspepsia and Healthy Subjects Completed NCT03617861 Phase 1, Phase 2 Human Secretin;Placebo
37 Phase IIA Study of the Safety and Tolerability of the Use of Imatinib Mesylate (Gleevec) in the Treatment of Systemic Sclerosis Completed NCT00555581 Phase 2 Imatinib Mesylate
38 A Randomized Double-Blinded, Placebo-Controlled Study of Omalizumab for Idiopathic Anaphylaxis Completed NCT00890162 Phase 2 Epinephrine;Omalizumab (Xolair);Placebos
39 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
40 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 Recruiting NCT03580655 Phase 2 Avapritinib
41 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
42 SL-401 in Patients With Advanced, High Risk Myeloproliferative Neoplasms (Systemic Mastocytosis, Advanced Symptomatic Primary Eosinophilic Disorder, Myelofibrosis, Chronic Myelomonocytic Leukemia) Recruiting NCT02268253 Phase 1, Phase 2 SL-401
43 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
44 A Two Step Approach to Reduced Intensity Allogeneic Hematopoietic Stem Cell Transplantation for Patients With Hematologic Malignancies Recruiting NCT01384513 Phase 2 Fludarabine;Busulfan;Cyclophosphamide (CY);Tacrolimus;Mycophenolate mofetil
45 Cromoglycate Adjunctive Therapy for Outpatients With Schizophrenia Recruiting NCT03794076 Phase 1, Phase 2 Cromoglycate;Placebo
46 A Phase 2 Study to Evaluate the Anti-Tumor Activity of Single Agent Flotetuzumab in Advanced CD123-Positive Hematological Malignancies Not yet recruiting NCT03739606 Phase 2
47 A Phase 2 Study of Ibrutinib in Advanced Systemic Mastocytosis Terminated NCT02415608 Phase 2 Ibrutinib
48 Evaluation of Obatoclax Mesylate as Therapy for Patients With Systemic Mastocytosis Terminated NCT00918931 Phase 2 Obatoclax Mesylate
49 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
50 The Effectiveness of UVA1 and UVB Irradiation in the Treatment of Inflammatory Dermatoses: An Open Pilot Study Terminated NCT00129415 Phase 1, Phase 2

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 Mast Cell Leukemia 29
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Anatomical Context for Mastocytosis, Cutaneous

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MalaCards organs/tissues related to Mastocytosis, Cutaneous:

40
Skin, Bone, Liver, Myeloid, Kidney, Breast, Bone Marrow
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Publications for Mastocytosis, Cutaneous

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Articles related to Mastocytosis, Cutaneous:

(show top 50) (show all 924)
# 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. 54 61 56 6
8589724 1996
2
Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis. 61 56 6
21689725 2011
3
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. 54 56 6
7479840 1995
4
Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. 56 6
19865100 2010
5
Frequent TET2 mutations in systemic mastocytosis: clinical, KITD816V and FIP1L1-PDGFRA correlates. 56 6
19262599 2009
6
A germline mutation in KIT in familial diffuse cutaneous mastocytosis. 56 6
15173254 2004
7
Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. 56 6
9990072 1999
8
Clinical correlates of the presence of the Asp816Val c-kit mutation in the peripheral blood mononuclear cells of patients with mastocytosis. 56 6
9827716 1998
9
A new c-kit mutation in a case of aggressive mast cell disease. 56 6
9029028 1997
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. 56 6
7691885 1993
11
Lack of c-kit mutation in familial urticaria pigmentosa. 54 61 56
10354021 1999
12
Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa. 61 6
11505412 2001
13
Concordant urticaria pigmentosa in a couple of identical twins. A five-year follow-up. 61 56
8651038 1995
14
Urticaria pigmentosa in monozygotic twins. 61 56
2221954 1990
15
Familial urticaria pigmentosa. 61 56
2383167 1990
16
Familial urticaria pigmentosa. 61 56
3455808 1986
17
Familial urticaria pigmentosa with giant mast cell granules. A clinical, light, and electron microscopic study. 61 56
7316532 1981
18
Urticaria pigmentosa in identical twins. 61 56
567043 1978
19
Genetic aspects of urticaria pigmentosa. 61 56
5636045 1968
20
Familial urticaria pigmentosa: report of a family and review of the role of KIT mutations. 61 52
22892471 2013
21
KIT masters mast cells in kids, too. 56
20145643 2010
22
A novel K509I mutation of KIT identified in familial mastocytosis-in vitro and in vivo responsiveness to imatinib therapy. 56
16183119 2006
23
c-kit Mutations in patients with childhood-onset mastocytosis and genotype-phenotype correlation. 56
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. 56
10523834 1999
27
Familial mastocytosis: a clinical, immunophenotypic, light and electron microscopic study. 56
1836952 1991
28
The familial occurrence of bullous mastocytosis (diffuse cutaneous mastocytosis). 56
2241201 1990
29
[Familial mastocytosis. Presentation of 2 cases. General review. Nosologic importance]. 56
5124753 1971
30
Uniovular twins discordant for cutaneous mastocytosis. 56
4250565 1970
31
Mastocytosis. A clinical genetic evaluation. 56
5424687 1970
32
Mast cell disease. A cutaneous variant with multisystem involvement. 56
4235166 1968
33
Histiocyte-rich pleomorphic mastocytoma: an uncommon variant mimicking juvenile xanthogranuloma and Langerhans cell histiocytosis. 54 61
19602070 2009
34
Enhanced expression of SCF in the dermis is a prognostic factor for the regression of urticaria pigmentosa. 54 61
10586131 1999
35
Chronically KIT-stimulated clonally-derived human mast cells show heterogeneity in different tissue microenvironments. 54 61
9129234 1997
36
Expression of stem cell factor in cutaneous mastocytosis. 54 61
7547385 1995
37
Human dermal endothelial cells express membrane-associated mast cell growth factor. 54 61
7528242 1995
38
Aleukemic leukemia cutis mimicking urticaria pigmentosa in a patient of T-cell acute lymphoblastic leukemia. 61
31397398 2020
39
The co-existence of cutaneous melanoma and urticaria pigmentosa in a patient with Becker's nevus. 61
31803997 2019
40
Dermatoscopy of Urticaria Pigmentosa with and without Darier's Sign in Skin of Colour. 61
31544081 2019
41
Urticaria pigmentosa in monochorionic twins. 61
31389368 2019
42
Cutaneous hyperpigmentation and familial gastrointestinal stromal tumour associated with KIT mutation. 61
30280421 2019
43
Feline maculopapular cutaneous mastocytosis: a retrospective study of 13 cases and proposal for a new classification. 61
29860905 2019
44
Pseudoxanthomatous or xanthelasmoid mastocytosis: Reporting a rare entity. 61
30785120 2019
45
Oral suplatast tosilate for the treatment of urticaria pigmentosa, skin lesion in mastocytosis. 61
30456758 2019
46
Urticaria pigmentosa-like skin disease in a domestic shorthair cat. 61
30671254 2019
47
Diagnosis and treatment of urticaria in primary care. 61
31180381 2019
48
Darier's sign in urticaria pigmentosa-significance of perivascular eosinophilic infiltration. 61
30007512 2018
49
[Aggressive malignant melanoma in a patient with urticaria pigmentosa]. 61
30264298 2018
50
Testicular Cancer in Monozygotic Twin Brothers with Urticaria Pigmentosa. 61
29230478 2018
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Variations for Mastocytosis, Cutaneous

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ClinVar genetic disease variations for Mastocytosis, Cutaneous:

6 (show all 49) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.1598C>A (p.Ala533Asp)SNV Pathogenic 545643 rs753212327 4:55593441-55593441 4:54727275-54727275
3 KIT KIT, ASN822ILEundetermined variant Pathogenic 545644
4 KIT NM_000222.2(KIT):c.2515G>A (p.Glu839Lys)SNV Pathogenic/Likely pathogenic 13862 rs121913509 4:55602694-55602694 4:54736528-54736528
5 KIT NM_000222.2(KIT):c.1676T>C (p.Val559Ala)SNV Pathogenic/Likely pathogenic 13865 rs121913517 4:55593610-55593610 4:54727444-54727444
6 KIT NM_000222.2(KIT):c.200C>G (p.Thr67Ser)SNV Conflicting interpretations of pathogenicity 237252 rs144933028 4:55561810-55561810 4:54695644-54695644
7 KIT NM_000222.2(KIT):c.-14T>ASNV Conflicting interpretations of pathogenicity 255567 rs140909964 4:55524168-55524168 4:54658001-54658001
8 KIT NM_000222.2(KIT):c.2670C>T (p.Leu890=)SNV Conflicting interpretations of pathogenicity 237268 rs745967881 4:55602960-55602960 4:54736794-54736794
9 KIT NM_000222.2(KIT):c.2802+9A>GSNV Conflicting interpretations of pathogenicity 237270 rs369450271 4:55603455-55603455 4:54737289-54737289
10 KIT NM_000222.2(KIT):c.2881G>A (p.Gly961Ser)SNV Uncertain significance 237271 rs773828910 4:55604673-55604673 4:54738507-54738507
11 KIT NM_000222.2(KIT):c.2836C>T (p.Arg946Ter)SNV Uncertain significance 576610 rs139000082 4:55604628-55604628 4:54738462-54738462
12 KIT NM_000222.2(KIT):c.2447A>T (p.Asp816Val)SNV Uncertain significance 13852 rs121913507 4:55599321-55599321 4:54733155-54733155
13 KIT NM_000222.2(KIT):c.2923G>C (p.Asp975His)SNV Uncertain significance 348956 rs373152714 4:55604715-55604715 4:54738549-54738549
14 KIT NM_000222.2(KIT):c.*368C>TSNV Uncertain significance 348962 rs886059465 4:55605091-55605091 4:54738925-54738925
15 KIT NM_000222.2(KIT):c.*597C>TSNV Uncertain significance 348964 rs746982052 4:55605320-55605320 4:54739154-54739154
16 KIT NM_000222.2(KIT):c.*1059C>TSNV Uncertain significance 348966 rs886059467 4:55605782-55605782 4:54739616-54739616
17 KIT NM_000222.2(KIT):c.*1101A>GSNV Uncertain significance 348968 rs886059468 4:55605824-55605824 4:54739658-54739658
18 KIT NM_000222.2(KIT):c.1274T>A (p.Met425Lys)SNV Uncertain significance 237238 rs878853760 4:55589792-55589792 4:54723626-54723626
19 KIT NM_000222.2(KIT):c.1553C>T (p.Pro518Leu)SNV Uncertain significance 237245 rs569408054 4:55593396-55593396 4:54727230-54727230
20 KIT NM_000222.2(KIT):c.*252G>TSNV Uncertain significance 348960 rs376694515 4:55604975-55604975 4:54738809-54738809
21 KIT NM_000222.2(KIT):c.*352A>GSNV Uncertain significance 348961 rs149336515 4:55605075-55605075 4:54738909-54738909
22 KIT NM_000222.2(KIT):c.*1791G>ASNV Uncertain significance 348973 rs77842054 4:55606514-55606514 4:54740348-54740348
23 KIT NM_000222.2(KIT):c.301C>T (p.His101Tyr)SNV Uncertain significance 348954 rs781130745 4:55561911-55561911 4:54695745-54695745
24 KIT NM_000222.2(KIT):c.*198A>GSNV Uncertain significance 348958 rs886059464 4:55604921-55604921 4:54738755-54738755
25 KIT NM_000222.2(KIT):c.*1086C>TSNV Uncertain significance 348967 rs533152310 4:55605809-55605809 4:54739643-54739643
26 KIT NM_000222.2(KIT):c.*1487_*1490deldeletion Uncertain significance 348970 rs374796688 4:55606208-55606211 4:54740042-54740045
27 KIT NM_000222.2(KIT):c.*1808A>GSNV Uncertain significance 348974 rs762662037 4:55606531-55606531 4:54740365-54740365
28 KIT NM_000222.2(KIT):c.*393A>GSNV Uncertain significance 348963 rs886059466 4:55605116-55605116 4:54738950-54738950
29 KIT NM_000222.2(KIT):c.*790A>GSNV Uncertain significance 348965 rs189995563 4:55605513-55605513 4:54739347-54739347
30 KIT NM_000222.2(KIT):c.2104C>G (p.Leu702Val)SNV Uncertain significance 409779 rs768847037 4:55595614-55595614 4:54729448-54729448
31 KIT NM_000222.2(KIT):c.2294A>G (p.Asp765Gly)SNV Uncertain significance 409730 rs1060502545 4:55598097-55598097 4:54731931-54731931
32 KIT NM_000222.2(KIT):c.1616T>C (p.Ile539Thr)SNV Uncertain significance 409729 rs781371383 4:55593459-55593459 4:54727293-54727293
33 KIT NM_000222.2(KIT):c.2863G>T (p.Val955Leu)SNV Uncertain significance 409783 rs1060502568 4:55604655-55604655 4:54738489-54738489
34 KIT NM_000222.2(KIT):c.2887A>G (p.Thr963Ala)SNV Uncertain significance 409774 rs773709702 4:55604679-55604679 4:54738513-54738513
35 KIT NM_000222.2(KIT):c.2900C>G (p.Ser967Cys)SNV Uncertain significance 458936 rs1232060384 4:55604692-55604692 4:54738526-54738526
36 KIT NM_000222.2(KIT):c.302A>G (p.His101Arg)SNV Uncertain significance 458940 rs1274601103 4:55561912-55561912 4:54695746-54695746
37 KIT NM_000222.2(KIT):c.2057G>A (p.Arg686His)SNV Uncertain significance 458902 rs143772138 4:55595567-55595567 4:54729401-54729401
38 KIT NM_000222.2(KIT):c.*1524A>GSNV Likely benign 348971 rs17084736 4:55606247-55606247 4:54740081-54740081
39 KIT NM_000222.2(KIT):c.*1241G>ASNV Likely benign 348969 rs114377961 4:55605964-55605964 4:54739798-54739798
40 KIT NM_000222.2(KIT):c.*1704G>TSNV Likely benign 348972 rs8022 4:55606427-55606427 4:54740261-54740261
41 KIT NM_000222.2(KIT):c.*149C>TSNV Likely benign 348957 rs2213181 4:55604872-55604872 4:54738706-54738706
42 KIT NM_000222.2(KIT):c.1638A>G (p.Lys546=)SNV Benign/Likely benign 255569 rs55986963 4:55593481-55593481 4:54727315-54727315
43 KIT NM_000222.2(KIT):c.2394C>T (p.Ile798=)SNV Benign/Likely benign 255571 rs55789615 4:55599268-55599268 4:54733102-54733102
44 KIT NM_000222.2(KIT):c.2586G>C (p.Leu862=)SNV Benign/Likely benign 255572 rs3733542 4:55602765-55602765 4:54736599-54736599
45 KIT NM_000222.2(KIT):c.2847C>T (p.Pro949=)SNV Benign/Likely benign 348955 rs56288823 4:55604639-55604639 4:54738473-54738473
46 KIT NM_000222.2(KIT):c.252G>T (p.Thr84=)SNV Benign/Likely benign 220764 rs56411694 4:55561862-55561862 4:54695696-54695696
47 KIT NM_000222.2(KIT):c.1119C>T (p.Tyr373=)SNV Benign/Likely benign 221149 rs72549293 4:55575593-55575593 4:54709427-54709427
48 KIT NM_000222.2(KIT):c.1794A>T (p.Gly598=)SNV Benign/Likely benign 220914 rs72549292 4:55594008-55594008 4:54727842-54727842
49 KIT NM_000222.2(KIT):c.1621A>C (p.Met541Leu)SNV Benign/Likely benign 41599 rs3822214 4:55593464-55593464 4:54727298-54727298

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

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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 11)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 13.79 TNFRSF8 SERPINA3 PDGFRA LYN KITLG KIT
2
NF-kappaB Signaling 4
12.01 TNFRSF8 LYN KITLG KIT IL3 CD34
3
Kit receptor signaling pathway 1
Show member pathways
 11.88 LYN KITLG KIT IL3
4
Tyrosine Kinases / Adaptors 4
11.79 PDGFRA LYN KITLG KIT
5
C-MYB transcription factor network 1
11.55 KITLG KIT CD34
6
Hematopoietic cell lineage 36
11.55 KITLG KIT IL3 CD34 CD2
7
B Cell Development Pathways 64
11.33 TNFRSF8 KIT CD34
8
Differentiation Pathway 1
11.26 KITLG KIT IL3
9
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.16 KITLG KIT IL3 CD68 CD34 CD2
10
G-protein signaling_Rap2B regulation pathway 22
10.8 PDGFRA KITLG KIT IL3 CD2
11
Regulation of KIT signaling 65
10.64 LYN KITLG KIT
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GO Terms for Mastocytosis, Cutaneous

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.73 TNFRSF8 TAC1 PDGFRA MRGPRX2 LYN KITLG
2 secretory granule GO:0030141 9.33 CTSG CMA1 ATP7A
3 mast cell granule GO:0042629 8.8 MRGPRX2 LYN KIT

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

(show all 12)
# 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 9.71 PDGFRA KITLG KIT IL3
3 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.65 PDGFRA LYN KIT
4 hemopoiesis GO:0030097 9.54 LYN KIT CD34
5 mast cell degranulation GO:0043303 9.51 MRGPRX2 KIT
6 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.5 LYN KIT IL3
7 positive regulation of phospholipase C activity GO:0010863 9.49 PDGFRA KIT
8 angiotensin maturation GO:0002003 9.43 CTSG CMA1
9 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.33 PDGFRA LYN KIT
10 ectopic germ cell programmed cell death GO:0035234 9.26 KITLG KIT
11 positive regulation of mast cell proliferation GO:0070668 8.96 LYN KITLG
12 embryonic hemopoiesis GO:0035162 8.8 KITLG KIT IL3

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

# Name GO ID Score Top Affiliating Genes
1 platelet-derived growth factor receptor binding GO:0005161 8.62 PDGFRA LYN
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Sources for Mastocytosis, Cutaneous

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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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