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MASTC
MCID: MST024
MIFTS: 69

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

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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
Diffuse Cutaneous Maculopapulous Mastocytosis 52 58
Mastocytosis, Maculopapular Cutaneous 56 73
Mastocytosis, Diffuse Cutaneous 56 73
Mastocytosis, Systemic, Somatic 56 6
Mast Cell Disease 73 13
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 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 Pathways in cancer 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 spleen, and related phenotypes are pruritus and hypermelanotic macule

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 1228)
# Related Disease Score Top Affiliating Genes
1 cutaneous solitary mastocytoma 34.1 KITLG KIT CMA1 CD2
2 systemic mastocytosis with associated hematologic neoplasm 34.0 TET2 KIT
3 gastrointestinal stromal tumor 32.4 PDGFRA KITLG KIT CD34
4 sm-ahnmd 32.2 TET2 PDGFRA KITLG KIT FIP1L1 CD2
5 breast malignant phyllodes tumor 31.9 KIT CD34
6 mast-cell leukemia 30.7 KITLG KIT ATP7A
7 dowling-degos disease 1 30.6 KITLG KIT
8 mastocytosis 30.6 TET2 PDGFRA KITLG KIT IL3 IFNA2
9 acute leukemia 30.5 KITLG KIT IL3 CD34
10 piebald trait 30.5 PDGFRA KITLG KIT
11 leiomyoma 30.5 PDGFRA KIT CD34
12 benign mastocytoma 30.4 KIT CD2
13 chronic eosinophilic leukemia 30.4 TET2 PDGFRA KIT FIP1L1
14 pdgfra-associated chronic eosinophilic leukemia 30.3 PDGFRA FIP1L1
15 mast-cell sarcoma 30.3 KITLG KIT FIP1L1 CMA1 CD2
16 hypereosinophilic syndrome, idiopathic 30.2 PDGFRA KIT IL3 FIP1L1
17 polycythemia 30.2 TET2 KITLG IL3
18 neurilemmoma 30.2 PDGFRA KIT CD34
19 myoma 30.1 KITLG KIT CD34
20 thrombocytosis 30.1 TET2 KITLG IL3
21 neurofibroma 30.1 PDGFRA KITLG KIT CD34
22 refractory anemia 30.1 TET2 IL3
23 leukemia, acute lymphoblastic 30.0 LYN KITLG KIT IL3 CD34
24 retroperitoneal leiomyosarcoma 30.0 KIT CD34
25 pancytopenia 30.0 KIT IL3 CD34 CD2
26 blood coagulation disease 30.0 KIT IL3 CD34
27 exanthem 29.9 KIT ATP4A ATP12A
28 extracutaneous mastocytoma 29.9 TET2 KITLG KIT FIP1L1 CD2
29 severe combined immunodeficiency 29.8 KITLG KIT IL3 CD34
30 cavernous hemangioma 29.8 PDGFRA KIT CD34
31 hypereosinophilic syndrome 29.8 PDGFRA KIT IL3 IFNA2 FIP1L1
32 peptic ulcer disease 29.7 HDC ATP4A ATP12A
33 carney triad 29.6 PDGFRA KIT
34 megacolon 29.6 KIT ATP4A ATP12A
35 diarrhea 29.6 TAC1 IL3 IFNA2 ATP7A
36 gastroduodenitis 29.5 ATP4A ATP12A
37 indolent systemic mastocytosis 29.5 TET2 KITLG KIT FIP1L1 CD2 ATP7A
38 myelodysplastic syndrome 29.5 TET2 KITLG KIT IL3 CD34
39 essential thrombocythemia 29.4 TET2 KIT IL3 IFNA2
40 myeloid leukemia 29.4 TET2 LYN KIT IL3 CD34
41 eosinophilic gastroenteritis 29.4 IL3 ATP4A ATP12A
42 drug allergy 29.3 MRGPRX2 ATP4A ATP12A
43 lymphoma, non-hodgkin, familial 29.3 LYN KITLG IL3 CD34 CD2
44 active peptic ulcer disease 29.3 KIT ATP4A ATP12A
45 aspiration pneumonia 29.2 TAC1 ATP4A ATP12A
46 acute promyelocytic leukemia 29.2 LYN KITLG IL3 FIP1L1 CTSG CD34
47 leukemia, chronic lymphocytic 29.1 TET2 LYN KIT CD34 CD2
48 intestinal obstruction 29.0 KIT CD34 ATP4A ATP12A
49 thrombocytopenia 29.0 PDGFRA KITLG IL3 IFNA2 CD34
50 deficiency anemia 28.9 KIT CD34 ATP7A ATP4A ATP12A

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 pruritus 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Frequent (79-30%),Very frequent (99-80%) HP:0000989
2 hypermelanotic macule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001034
3 abnormal blistering of the skin 58 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%),Frequent (79-30%) HP:0008066
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 dyspnea 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002094
12 thickened skin 58 31 frequent (33%) Frequent (79-30%) HP:0001072
13 nausea and vomiting 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%),Frequent (79-30%) HP:0002017
14 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
15 headache 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002315
16 hypotension 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%),Occasional (29-5%) HP:0002615
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 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001744
22 hepatomegaly 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0002240
23 malabsorption 58 31 occasional (7.5%) Occasional (29-5%) HP:0002024
24 fatigue 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0012378
25 telangiectasia of the skin 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0100585
26 gastrointestinal hemorrhage 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0002239
27 cough 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0012735
28 osteoporosis 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000939
29 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
30 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
31 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
32 sarcoma 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0100242
33 recurrent fractures 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002757
34 leukemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001909
35 asthma 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002099
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 arrhythmia 58 Occasional (29-5%),Occasional (29-5%)
43 edema 31 HP:0000969
44 erythema 31 HP:0010783
45 respiratory insufficiency 58 Occasional (29-5%)
46 anorexia 58 Occasional (29-5%)
47 acute leukemia 58 Occasional (29-5%)
48 chronic leukemia 58 Occasional (29-5%)
49 immunologic hypersensitivity 58 Occasional (29-5%),Occasional (29-5%)
50 mastocytosis 58 Very frequent (99-80%)

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

MGI Mouse Phenotypes related to Mastocytosis, Cutaneous:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10 ATP4A ATP7A CD34 CMA1 CTSG HDC
2 immune system MP:0005387 9.9 ATP4A ATP7A CD34 CMA1 CTSG HDC
3 digestive/alimentary MP:0005381 9.87 ATP12A ATP4A ATP7A KIT KITLG LYN
4 neoplasm MP:0002006 9.5 ATP4A CD34 CTSG KIT KITLG PDGFRA
5 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 105)
# 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 11096-26-7, 209810-58-2
7
Iron Approved, Experimental Phase 3 15438-31-0, 7439-89-6 27284 23925
8
Denosumab Approved Phase 3 615258-40-7
9
Ginseng Approved, Investigational, Nutraceutical Phase 3 50647-08-0
10 Analgesics Phase 3
11 Anesthetics Phase 3
12 Anesthetics, General Phase 3
13 Anesthetics, Intravenous Phase 3
14 Excitatory Amino Acid Antagonists Phase 3
15 Anesthetics, Dissociative Phase 3
16 2-chloro-3'-deoxyadenosine Phase 3
17 Interferon-alpha Phase 3
18 interferons Phase 3
19 Analgesics, Opioid Phase 3
20 Hematinics Phase 3
21 ferric gluconate Phase 3
22 Iron Supplement Phase 3
23 Proton Pump Inhibitors Phase 3
24 Antidepressive Agents Phase 3
25 Histamine Antagonists Phase 3
26 Leukotriene Antagonists Phase 3
27 Histamine H1 Antagonists Phase 3
28
midostaurin Approved, Investigational Phase 2 120685-11-2 104937 9829523
29
Denileukin diftitox Approved, Investigational Phase 2 173146-27-5
30
Bortezomib Approved, Investigational Phase 1, Phase 2 179324-69-7 387447 93860
31
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
32
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
33
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
34
Levoleucovorin Approved, Investigational Phase 2 68538-85-2
35
Methotrexate Approved Phase 2 59-05-2, 1959-05-2 126941
36
Doxorubicin Approved, Investigational Phase 1, Phase 2 23214-92-8 31703
37
Secretin Approved Phase 1, Phase 2 108153-74-8
38
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
39
Racepinephrine Approved Phase 2 329-65-7 838
40
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
41
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
42
Busulfan Approved, Investigational Phase 2 55-98-1 2478
43
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
44
Vidarabine Approved, Investigational Phase 2 24356-66-9 21704 32326
45
Mycophenolic acid Approved Phase 2 24280-93-1 446541
46
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
47
Obatoclax Investigational Phase 2 803712-67-6
48 Immunoconjugates Phase 2
49 Analgesics, Non-Narcotic Phase 2
50 Interleukin-2 Phase 2

Interventional clinical trials:

(show top 50) (show all 103)
# 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 3 Study to Compare Oral Masitinib to Placebo in Treatment of Patients With Smouldering or Indolent Severe Systemic Mastocytosis, Unresponsive to Optimal Symptomatic Treatment Not yet recruiting NCT04333108 Phase 3 Masitinib
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 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
16 Efficacy and Safety of TF002 in Cutaneous Mastocytosis Completed NCT00457288 Phase 2 TF 002
17 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)
18 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
19 ONTAK (Denileukin Diftitox) in Patients With Systemic Mastocytosis Completed NCT00493129 Phase 2 Ontak (Denileukin Diftitox)
20 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)
21 Phase II Study of Thalidomide in Mastocytosis Completed NCT00769587 Phase 2 thalidomide
22 Phase II Study of Imatinib Mesylate in Patients With Life Threatening Malignant Rare Diseases Completed NCT00154388 Phase 2 Imatinib mesylate
23 Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes Completed NCT00171912 Phase 2 imatinib mesylate
24 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
25 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
26 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
27 Low Intensity Preparative Regimen Followed by HLA-Matched, Mobilized Peripheral Blood Stem Cell Transplantation for Systemic Mastocytosis Completed NCT00006413 Phase 2
28 Evaluation of RAD001 as Therapy for Patients With Systemic Mastocytosis Completed NCT00449748 Phase 2 RAD001 (Everolimus)
29 Evaluation of the Efficacy of Sunitinib® in Patients With Recurrent Ovarian Clear Cell Carcinoma Completed NCT01824615 Phase 2 Sunitinib
30 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
31 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
32 Unrelated Donor Hematopoietic Stem Cell Transplantation After Nonmyeloablative Conditioning For Patients With Hematological Malignancies Completed NCT00627666 Phase 2 busulfan;fludarabine phosphate;leucovorin calcium;methotrexate
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 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
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 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
37 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
38 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
39 A Randomized Double-Blinded, Placebo-Controlled Study of Omalizumab for Idiopathic Anaphylaxis Completed NCT00890162 Phase 2 Epinephrine;Omalizumab (Xolair);Placebos
40 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
41 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
42 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
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 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
45 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
46 Cromoglycate Adjunctive Therapy for Outpatients With Schizophrenia Recruiting NCT03794076 Phase 1, Phase 2 Cromoglycate;Placebo
47 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
48 A Phase 2 Study of Ibrutinib in Advanced Systemic Mastocytosis Terminated NCT02415608 Phase 2 Ibrutinib
49 Evaluation of Obatoclax Mesylate as Therapy for Patients With Systemic Mastocytosis Terminated NCT00918931 Phase 2 Obatoclax Mesylate
50 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

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, Spleen, Bone Marrow, Liver, Myeloid, Testes
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Publications for Mastocytosis, Cutaneous

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Articles related to Mastocytosis, Cutaneous:

(show top 50) (show all 926)
# 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 6 56 54
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. 6 56
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. 6 56
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. 61 56 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. 61 56
8651038 1995
14
Urticaria pigmentosa in monozygotic twins. 56 61
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. 56 61
5636045 1968
20
Familial urticaria pigmentosa: report of a family and review of the role of KIT mutations. 52 61
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. 61 54
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. 61 54
9129234 1997
36
Expression of stem cell factor in cutaneous mastocytosis. 61 54
7547385 1995
37
Human dermal endothelial cells express membrane-associated mast cell growth factor. 61 54
7528242 1995
38
Pseudoxanthomatous or xanthelasmoid mastocytosis: Reporting a rare entity. 61
30785120 2020
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 2020
40
The co-existence of cutaneous melanoma and urticaria pigmentosa in a patient with Becker's nevus. 61
31803997 2020
41
Urticaria Pigmentosa. 61
32444224 2020
42
Aleukemic leukemia cutis mimicking urticaria pigmentosa in a patient of T-cell acute lymphoblastic leukemia. 61
31397398 2020
43
Dermatoscopy of Urticaria Pigmentosa with and without Darier's Sign in Skin of Colour. 61
31544081 2019
44
Urticaria pigmentosa in monochorionic twins. 61
31389368 2019
45
Cutaneous hyperpigmentation and familial gastrointestinal stromal tumour associated with KIT mutation. 61
30280421 2019
46
Feline maculopapular cutaneous mastocytosis: a retrospective study of 13 cases and proposal for a new classification. 61
29860905 2019
47
Oral suplatast tosilate for the treatment of urticaria pigmentosa, skin lesion in mastocytosis. 61
30456758 2019
48
Urticaria pigmentosa-like skin disease in a domestic shorthair cat. 61
30671254 2019
49
Diagnosis and treatment of urticaria in primary care. 61
31180381 2019
50
[Aggressive malignant melanoma in a patient with urticaria pigmentosa]. 61
30264298 2018
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Variations for Mastocytosis, Cutaneous

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ClinVar genetic disease variations for Mastocytosis, Cutaneous:

6 (show top 50) (show all 104) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KIT NM_000222.2(KIT):c.1598C>A (p.Ala533Asp)SNV Pathogenic 545643 rs753212327 4:55593441-55593441 4:54727275-54727275
2 KIT KIT, ASN822ILEundetermined variant Pathogenic 545644
3 KIT NM_000222.2(KIT):c.2459A>G (p.Asp820Gly)SNV Pathogenic 13853 rs121913682 4:55599333-55599333 4:54733167-54733167
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.464C>T (p.Pro155Leu)SNV Conflicting interpretations of pathogenicity 225286 rs367719489 4:55564576-55564576 4:54698410-54698410
7 KIT NM_000222.2(KIT):c.2349C>T (p.Leu783=)SNV Conflicting interpretations of pathogenicity 237260 rs151046591 4:55598152-55598152 4:54731986-54731986
8 KIT NM_000222.2(KIT):c.2484C>T (p.Asn828=)SNV Conflicting interpretations of pathogenicity 237263 rs141347955 4:55599358-55599358 4:54733192-54733192
9 KIT NM_000222.2(KIT):c.2670C>T (p.Leu890=)SNV Conflicting interpretations of pathogenicity 237268 rs745967881 4:55602960-55602960 4:54736794-54736794
10 KIT NM_000222.2(KIT):c.2802+9A>GSNV Conflicting interpretations of pathogenicity 237270 rs369450271 4:55603455-55603455 4:54737289-54737289
11 KIT NM_000222.2(KIT):c.1694G>T (p.Gly565Val)SNV Conflicting interpretations of pathogenicity 41600 rs200945282 4:55593628-55593628 4:54727462-54727462
12 KIT NM_000222.2(KIT):c.2263G>A (p.Ala755Thr)SNV Conflicting interpretations of pathogenicity 41601 rs201165084 4:55598066-55598066 4:54731900-54731900
13 KIT NM_000222.2(KIT):c.821C>T (p.Thr274Met)SNV Conflicting interpretations of pathogenicity 41604 rs138585275 4:55569954-55569954 4:54703788-54703788
14 KIT NM_000222.2(KIT):c.910A>G (p.Thr304Ala)SNV Conflicting interpretations of pathogenicity 41606 rs202052259 4:55570043-55570043 4:54703877-54703877
15 KIT NM_000222.2(KIT):c.1588G>A (p.Val530Ile)SNV Conflicting interpretations of pathogenicity 134621 rs72550822 4:55593431-55593431 4:54727265-54727265
16 KIT NM_000222.2(KIT):c.1195G>A (p.Val399Ile)SNV Conflicting interpretations of pathogenicity 134629 rs143707288 4:55575669-55575669 4:54709503-54709503
17 KIT NM_000222.2(KIT):c.952A>G (p.Met318Val)SNV Conflicting interpretations of pathogenicity 161260 rs143388949 4:55573290-55573290 4:54707124-54707124
18 KIT NM_000222.2(KIT):c.1264G>A (p.Val422Met)SNV Conflicting interpretations of pathogenicity 576821 rs1560414398 4:55589782-55589782 4:54723616-54723616
19 KIT NM_000222.2(KIT):c.978C>T (p.Asn326=)SNV Conflicting interpretations of pathogenicity 458979 rs148594615 4:55573316-55573316 4:54707150-54707150
20 KIT NM_000222.2(KIT):c.2848G>A (p.Val950Met)SNV Conflicting interpretations of pathogenicity 409716 rs146374006 4:55604640-55604640 4:54738474-54738474
21 KIT NM_000222.2(KIT):c.252G>A (p.Thr84=)SNV Conflicting interpretations of pathogenicity 415776 rs56411694 4:55561862-55561862 4:54695696-54695696
22 KIT NM_000222.3(KIT):c.67+12C>TSNV Conflicting interpretations of pathogenicity 901292 4:55524260-55524260 4:54658093-54658093
23 KIT NM_000222.2(KIT):c.2118T>G (p.Leu706=)SNV Conflicting interpretations of pathogenicity 237254 rs766840704 4:55595628-55595628 4:54729462-54729462
24 KIT NM_000222.2(KIT):c.1594G>A (p.Val532Ile)SNV Conflicting interpretations of pathogenicity 237248 rs55792975 4:55593437-55593437 4:54727271-54727271
25 KIT NM_000222.2(KIT):c.878A>G (p.Asn293Ser)SNV Conflicting interpretations of pathogenicity 237285 rs137909416 4:55570011-55570011 4:54703845-54703845
26 KIT NM_000222.2(KIT):c.200C>G (p.Thr67Ser)SNV Conflicting interpretations of pathogenicity 237252 rs144933028 4:55561810-55561810 4:54695644-54695644
27 KIT NM_000222.2(KIT):c.1674G>A (p.Lys558=)SNV Conflicting interpretations of pathogenicity 220634 rs200375589 4:55593608-55593608 4:54727442-54727442
28 KIT NM_000222.2(KIT):c.2622G>A (p.Pro874=)SNV Conflicting interpretations of pathogenicity 220917 rs55817813 4:55602912-55602912 4:54736746-54736746
29 KIT NM_000222.3(KIT):c.*1834A>GSNV Conflicting interpretations of pathogenicity 902286 4:55606557-55606557 4:54740391-54740391
30 KIT NM_000222.3(KIT):c.*929G>ASNV Conflicting interpretations of pathogenicity 900542 4:55605652-55605652 4:54739486-54739486
31 KIT NM_000222.3(KIT):c.*299G>CSNV Conflicting interpretations of pathogenicity 900491 4:55605022-55605022 4:54738856-54738856
32 KIT NM_000222.2(KIT):c.1185C>A (p.Ser395=)SNV Conflicting interpretations of pathogenicity 528635 rs755864184 4:55575659-55575659 4:54709493-54709493
33 KIT NM_000222.2(KIT):c.148G>T (p.Val50Leu)SNV Uncertain significance 409722 rs200950545 4:55561758-55561758 4:54695592-54695592
34 KIT NM_000222.2(KIT):c.2104C>G (p.Leu702Val)SNV Uncertain significance 409779 rs768847037 4:55595614-55595614 4:54729448-54729448
35 KIT NM_000222.3(KIT):c.-56A>CSNV Uncertain significance 900130 4:55524126-55524126 4:54657959-54657959
36 KIT NM_000222.3(KIT):c.78A>C (p.Gln26His)SNV Uncertain significance 857769 4:55561688-55561688 4:54695522-54695522
37 KIT NM_000222.3(KIT):c.*37T>CSNV Uncertain significance 902987 4:55604760-55604760 4:54738594-54738594
38 KIT NM_000222.3(KIT):c.*17G>ASNV Uncertain significance 902104 4:55604740-55604740 4:54738574-54738574
39 KIT NM_000222.3(KIT):c.615G>A (p.Arg205=)SNV Uncertain significance 900191 4:55564727-55564727 4:54698561-54698561
40 KIT NM_000222.3(KIT):c.211C>G (p.Leu71Val)SNV Uncertain significance 901844 4:55561821-55561821 4:54695655-54695655
41 KIT NM_000222.3(KIT):c.*1190A>GSNV Uncertain significance 903094 4:55605913-55605913 4:54739747-54739747
42 KIT NM_000222.3(KIT):c.*1087G>CSNV Uncertain significance 902211 4:55605810-55605810 4:54739644-54739644
43 KIT NM_000222.3(KIT):c.*701A>GSNV Uncertain significance 899420 4:55605424-55605424 4:54739258-54739258
44 KIT NM_000222.3(KIT):c.*575A>GSNV Uncertain significance 903042 4:55605298-55605298 4:54739132-54739132
45 KIT NM_000222.3(KIT):c.*530A>GSNV Uncertain significance 902164 4:55605253-55605253 4:54739087-54739087
46 KIT NM_000222.3(KIT):c.*390A>GSNV Uncertain significance 902163 4:55605113-55605113 4:54738947-54738947
47 KIT NM_000222.3(KIT):c.*381C>TSNV Uncertain significance 902162 4:55605104-55605104 4:54738938-54738938
48 KIT NM_000222.3(KIT):c.*1577T>CSNV Uncertain significance 899466 4:55606300-55606300 4:54740134-54740134
49 KIT NM_000222.3(KIT):c.*2056G>ASNV Uncertain significance 903157 4:55606779-55606779 4:54740613-54740613
50 KIT NM_000222.3(KIT):c.*2041A>GSNV 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

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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 12)
# Super pathways Score Top Affiliating Genes
1
Pathways in cancer 36
12.62 PDGFRA KITLG KIT IL3 IFNA2
2
NF-kappaB Signaling 4
12.15 LYN KITLG KIT IL3 CD34 CD2
3
Immune response IFN alpha/beta signaling pathway 22
Show member pathways
 11.98 PDGFRA KITLG KIT IL3 IFNA2
4
Kit receptor signaling pathway 1
Show member pathways
 11.91 LYN KITLG KIT IL3
5
Tyrosine Kinases / Adaptors 4
11.79 PDGFRA LYN KITLG KIT
6
C-MYB transcription factor network 1
11.55 KITLG KIT CD34
7
Dendritic Cells Developmental Lineage Pathway 64
11.5 KIT IFNA2 CD34
8
Hematopoietic cell lineage 36
11.35 KITLG KIT IL3 CD34 CD2
9
Differentiation Pathway 1
11.29 KITLG KIT IL3
10
Hematopoietic Stem Cells and Lineage-specific Markers 64
11.16 KITLG KIT IL3 IFNA2 CD34 CD2
11
G-protein signaling_Rap2B regulation pathway 22
10.81 PDGFRA KITLG KIT IL3 CD2
12
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 9.93 TAC1 PDGFRA MRGPRX2 LYN KITLG KIT
2 extracellular space GO:0005615 9.56 TAC1 KITLG KIT IL3 IFNA2 CTSG
3 secretory granule GO:0030141 9.43 CTSG CMA1 ATP7A
4 mast cell granule GO:0042629 8.8 MRGPRX2 LYN KIT

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 9.88 PDGFRA LYN KITLG KIT IL3
2 MAPK cascade GO:0000165 9.76 PDGFRA KITLG KIT IL3
3 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.61 PDGFRA LYN KIT
4 mast cell degranulation GO:0043303 9.55 MRGPRX2 KIT
5 sodium ion export across plasma membrane GO:0036376 9.54 ATP4A ATP12A
6 hemopoiesis GO:0030097 9.54 LYN KIT CD34
7 cellular potassium ion homeostasis GO:0030007 9.52 ATP4A ATP12A
8 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.51 ATP4A ATP12A
9 positive regulation of phospholipase C activity GO:0010863 9.49 PDGFRA KIT
10 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.43 PDGFRA LYN KIT
11 angiotensin maturation GO:0002003 9.4 CTSG CMA1
12 ectopic germ cell programmed cell death GO:0035234 9.32 KITLG KIT
13 positive regulation of mast cell proliferation GO:0070668 9.16 LYN KITLG
14 embryonic hemopoiesis GO:0035162 9.13 KITLG KIT IL3
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
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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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