Mastocytosis, Cutaneous disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MASTC MCID: MST024 MIFTS: 64	Mastocytosis, Cutaneous (MASTC) Categories: Blood diseases, Cancer diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Mastocytosis, Cutaneous

MalaCards integrated aliases for Mastocytosis, Cutaneous:

Name: Mastocytosis, Cutaneous ⁵⁷ ⁷⁵ ⁴⁴

Urticaria Pigmentosa ⁵⁷ ¹² ⁷⁶ ⁵³ ⁵⁹ ⁷⁵ ⁵⁵ ⁴⁴ ¹⁵

Cutaneous Mastocytosis ¹² ⁵³ ²⁹ ⁶ ¹⁵

Diffuse Cutaneous Mastocytosis ¹² ⁵³ ⁵⁹ ¹⁵

Mast Cell Leukemia ⁷⁵ ²⁹ ⁶

Diffuse Cutaneous Maculopapulous Mastocytosis ⁵³ ⁵⁹

Mastocytosis, Maculopapular Cutaneous ⁵⁷ ⁷⁵

Maculopapular Cutaneous Mastocytosis ⁵³ ⁵⁹

Mastocytosis, Diffuse Cutaneous ⁵⁷ ⁷⁵

Mastocytosis, Systemic, Somatic ⁵⁷ ⁶

Mastc ⁵⁷ ⁷⁵

Dcm ⁵³ ⁵⁹

Mastocytosis with Associated Hematologic Disorder ⁷⁵

Mastocytosis, Systemic ⁷⁵

Mastocytosis, Indolent ⁷⁵

Leukemia Mast Cell ⁵⁵

Mast Cell Disease ⁷⁵

Mast-Cell Disease ⁷⁵

Mastocytoma ⁵³

Up/mpcm ¹²

Mastsys ⁷⁵

Cm ¹²

Characteristics:

Orphanet epidemiological data:

⁵⁹

diffuse cutaneous mastocytosis
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

⁵⁷

Inheritance:
autosomal dominant

HPO:

³²

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: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other congenital malformations of skin

Mastocytosis

Orphanet: ⁵⁹

Rare skin diseases

Rare haematological diseases

External Ids:

OMIM ⁵⁷ 154800

Disease Ontology ¹² DOID:12309 DOID:3663 DOID:3665

ICD10 ³³ D47.01

MeSH ⁴⁴ D014582 D034701 D008415

NCIt ⁵⁰ C3433 C7137 C3218

SNOMED-CT ⁶⁸ 78745000

Orphanet ⁵⁹ ORPHA79456 ORPHA79457

UMLS via Orphanet ⁷⁴ C0024901 C0042111

ICD10 via Orphanet ³⁴ Q82.2

MESH via Orphanet ⁴⁵ D014582

MedGen ⁴² C0024899 C0042111

SNOMED-CT via HPO ⁶⁹ 263681008 21061000119107 35489007 more

UMLS ⁷³ C0042111 C1136033 C0024901

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Summaries for Mastocytosis, Cutaneous

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)

MalaCards based summary : Mastocytosis, Cutaneous, also known as urticaria pigmentosa, is related to cutaneous solitary mastocytoma and mastocytosis. An important gene associated with Mastocytosis, Cutaneous is KIT (KIT Proto-Oncogene Receptor Tyrosine Kinase), and among its related pathways/superpathways are Akt Signaling and PAK Pathway. The drugs Fusilev and Nolvadex have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and liver, and related phenotypes are nausea and vomiting and hypotension

NIH Rare Diseases : ⁵³ 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 : ⁷⁵ 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 : ⁷⁶ Urticaria pigmentosa (also known as generalized eruption of cutaneous mastocytosis (childhood type) ) is... more...

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Related Diseases for Mastocytosis, Cutaneous

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

(show top 50) (show all 458)

#	Related Disease	Score	Top Affiliating Genes
1	cutaneous solitary mastocytoma	33.2	KITLG KIT CMA1 CD2
2	mastocytosis	31.8	KITLG KIT FIP1L1 CD2
3	aggressive systemic mastocytosis	30.2	KIT KITLG
4	neurofibroma	30.0	KIT KITLG
5	mast-cell leukemia	29.9	ATP7A KIT KITLG
6	indolent systemic mastocytosis	29.9	CD2 KIT KITLG
7	extracutaneous mastocytoma	29.9	CD2 KIT
8	hypereosinophilic syndrome, idiopathic	29.8	FIP1L1 KIT
9	gastrointestinal stromal tumor	29.8	KIT KITLG NTRK3
10	mast cell neoplasm	29.8	KITLG KIT CMA1 CD2
11	chronic eosinophilic leukemia	29.6	FIP1L1 KIT
12	systemic mastocytosis	29.4	KITLG KIT FIP1L1 CD2
13	sm-ahnmd	29.4	CD2 FIP1L1 KIT
14	leukemia, acute myeloid	29.1	CD2 KIT KITLG
15	aleukemic mast cell leukemia	12.4
16	nodular urticaria pigmentosa	12.3
17	classic mast cell leukemia	12.3
18	pseudoxanthomatous diffuse cutaneous mastocytosis	12.2
19	cutaneous mastocytosis, conductive hearing loss and microtia	12.2
20	bullous diffuse cutaneous mastocytosis	12.2
21	mastocytosis cutaneous with short stature conductive hearing loss and microtia	12.2
22	plaque-form urticaria pigmentosa	12.2
23	typical urticaria pigmentosa	12.2
24	dilated cardiomyopathy	12.1
25	benign mastocytoma	12.1
26	congenital myasthenic syndrome	12.0
27	capillary malformation-arteriovenous malformation	11.8
28	myasthenic syndrome, congenital, 6, presynaptic	11.8
29	myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency	11.7
30	myasthenic syndrome, congenital, 10	11.7
31	myasthenic syndrome, congenital, 1a, slow-channel	11.7
32	myasthenic syndrome, congenital, 5	11.7
33	myasthenic syndrome, congenital, 4a, slow-channel	11.6
34	myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	11.6
35	megalencephaly-capillary malformation-polymicrogyria syndrome	11.6
36	chronic mountain sickness	11.5
37	congenital myasthenic syndrome with episodic apnea	11.4
38	mast-cell sarcoma	11.4
39	chiari malformation type ii	11.3
40	chiari malformation	11.3
41	malaria	11.3
42	3-methylglutaconic aciduria, type v	11.3
43	aortic aneurysm, familial abdominal, 1	11.3
44	urticaria	11.2
45	cutaneous mastocytoma	11.2
46	mastocytic enterocolitis	11.2
47	thyroid cancer, nonmedullary, 1	11.1
48	monoclonal mast cell activation syndrome	11.1
49	lipomatosis, multiple	11.1
50	lung abscess	11.1

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

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Symptoms & Phenotypes for Mastocytosis, Cutaneous

Symptoms via clinical synopsis from OMIM:

⁵⁷

Skin:
cutaneous mastocytosis
urticaria pigmentosa
hyperpigmented macules or papules showing erythema or edema on trauma
bullous mastocytosis
telangiectasia macularis eruptiva perstans

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

Clinical features from OMIM:

154800

Human phenotypes related to Mastocytosis, Cutaneous:

⁵⁹ ³² (show all 44)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	nausea and vomiting ⁵⁹ ³²	occasional (7.5%)	Frequent (79-30%)	HP:0002017
2	hypotension ⁵⁹ ³²	occasional (7.5%)	Frequent (79-30%)	HP:0002615
3	hepatomegaly ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002240
4	malabsorption ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002024
5	dyspnea ⁵⁹ ³²	occasional (7.5%)	Frequent (79-30%)	HP:0002094
6	abnormal blistering of the skin ⁵⁹ ³²	occasional (7.5%)	Very frequent (99-80%)	HP:0008066
7	pruritus ⁵⁹ ³²	hallmark (90%)	Frequent (79-30%),Very frequent (99-80%)	HP:0000989
8	telangiectasia of the skin ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0100585
9	gastrointestinal hemorrhage ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002239
10	diarrhea ⁵⁹ ³²	occasional (7.5%)	Frequent (79-30%)	HP:0002014
11	macule ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0012733
12	thickened skin ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001072
13	urticaria ⁵⁹ ³²		Frequent (79-30%)	HP:0001025
14	headache ⁵⁹ ³²	occasional (7.5%)	Frequent (79-30%)	HP:0002315
15	hypermelanotic macule ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0001034
16	papule ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0200034
17	abnormality of skin pigmentation ⁵⁹ ³²	hallmark (90%)	Frequent (79-30%)	HP:0001000
18	erythroderma ⁵⁹ ³²	occasional (7.5%)	Very frequent (99-80%)	HP:0001019
19	cardiac arrest ⁵⁹ ³²	occasional (7.5%)	Frequent (79-30%)	HP:0001695
20	skin nodule ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0200036
21	skin plaque ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0200035
22	dermatographic urticaria ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0011971
23	rhinitis ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0012384
24	leukemia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001909
25	anaphylactic shock ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0100845
26	cutaneous mastocytosis ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%),Very frequent (99-80%)	HP:0200151
27	depressivity ³²	occasional (7.5%)		HP:0000716
28	splenomegaly ³²	occasional (7.5%)		HP:0001744
29	fatigue ³²	occasional (7.5%)		HP:0012378
30	osteoporosis ³²	occasional (7.5%)		HP:0000939
31	abdominal pain ³²	frequent (33%)		HP:0002027
32	edema ³²			HP:0000969
33	anxiety ³²	occasional (7.5%)		HP:0000739
34	alopecia ³²	occasional (7.5%)		HP:0001596
35	multiple cafe-au-lait spots ³²	hallmark (90%)		HP:0007565
36	sarcoma ³²	occasional (7.5%)		HP:0100242
37	asthma ³²	occasional (7.5%)		HP:0002099
38	recurrent fractures ³²	occasional (7.5%)		HP:0002757
39	hypercalcemia ³²	occasional (7.5%)		HP:0003072
40	erythema ³²			HP:0010783
41	cough ³²	occasional (7.5%)		HP:0012735
42	increased bone mineral density ³²	occasional (7.5%)		HP:0011001
43	myeloproliferative disorder ³²	occasional (7.5%)		HP:0005547
44	telangiectasia macularis eruptiva perstans ³²			HP:0007583

MGI Mouse Phenotypes related to Mastocytosis, Cutaneous:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	liver/biliary system	MP:0005370	9.35	ATP7A CTSG KIT KITLG OSMR
2	normal	MP:0002873	9.1	ATP7A CD2 CTSG KIT NTRK3 SERPINB6

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Drugs & Therapeutics for Mastocytosis, Cutaneous

FDA approved drugs:

(show all 7)

#	Drug Name	Active Ingredient(s) ¹⁸	Company	Approval Date
1	Fusilev ¹⁸	LEVOLEUCOVORIN CALCIUM	Spectrum Pharmaceuticals	March of 2008
FDA Label: Fusilev Disease/s that Drug Treats:rescue after high-dose methotrexate therapy in osteosarcoma and to reduce the toxicity of methotrexate Indications and Usage: ¹⁸ Fusilev is a folate analog indicated for: Rescue after high-dose methotrexate therapy in osteosarcoma. Diminishing the toxicity and counteracting the effects of impairedmethotrexate elimination and of inadvertent overdosage of folic acidantagonists. Use in combination chemotherapy with 5-fluorouracil in the palliativetreatment of patients with advanced metastatic colorectal cancer.(1)Limitations of UseFusilev is not approved for pernicious anemia and megaloblastic anemias.Improper use may cause a hematologic remission while neurologicmanifestations continue to progress. (1.1) DrugBank Targets: ¹⁶ 1. Thymidylate synthase Mechanism of Action: ¹⁸ Target: therapeutic and toxic effects of folic acidantagonists / therapeutic and toxic effects of fluoropyrimidines used in cancer therapy Action: counteract/enhance FDA: 12.1.1 Levoleucovorin effects during high-dose methotrexate therapyLevoleucovorin is the pharmacologically active isomer of 5-formyl tetrahydrofolic acid. Levoleucovorin does not requirereduction by the enzyme dihydrofolate reductase in order to participate in reactions utilizing folates as a source of âonecarbonâmoieties. Administration of levoleucovorin can counteract the therapeutic and toxic effects of folic acidantagonists such as methotrexate, which act by inhibiting dihydrofolate reductase.12.1.2 Levoleucovorin effects in combination with 5-fluorouracilLevoleucovorin can enhance the therapeutic and toxic effects of fluoropyrimidines used in cancer therapy such as5-fluorouracil. 5-fluorouracil is metabolized to 5-fluoro-2'-deoxyuridine-5'-monophosphate (FdUMP), which binds to andinhibits thymidylate synthase (an enzyme important in DNA repair and replication). Levoleucovorin is readily convertedto another reduced folate, 5,10-methylenetetrahydrofolate, which acts to stabilize the binding of FdUMP to thymidylatesynthase and thereby enhances the inhibition of this enzyme.
2	Nolvadex ¹⁸ ⁴⁹	TAMOXIFEN CITRATE	AstraZeneca	October 1998
FDA Label: Nolvadex Disease/s that Drug Treats:Breast Cancer Indications and Usage: ¹⁸ Metastatic Breast Cancer:NOLVADEX is effective in the treatment of metastatic breast cancer in women and men. Inpremenopausal women with metastatic breast cancer, NOLVADEX is an alternative tooophorectomy or ovarian irradiation. Available evidence indicates that patients whose tumorsare estrogen receptor positive are more likely to benefit from NOLVADEX therapy.Adjuvant Treatment of Breast Cancer:NOLVADEX is indicated for the treatment of node-positive breast cancer in women followingtotal mastectomy or segmental mastectomy, axillary dissection, and breast irradiation. In someNOLVADEX adjuvant studies, most of the benefit to date has been in the subgroup with four ormore positive axillary nodes.NOLVADEX is indicated for the treatment of axillary node-negative breast cancer in womenfollowing total mastectomy or segmental mastectomy, axillary dissection, and breast irradiation.The estrogen and progesterone receptor values may help to predict whether adjuvantNOLVADEX therapy is likely to be beneficial.NOLVADEX reduces the occurrence of contralateral breast cancer in patients receiving adjuvantNOLVADEX therapy for breast cancer.Ductal Carcinoma in Situ (DCIS):In women with DCIS, following breast surgery and radiation, NOLVADEX is indicated toreduce the risk of invasive breast cancer (see BOXED WARNING at the beginning of thelabel). The decision regarding therapy with NOLVADEX for the reduction in breast cancerincidence should be based upon an individual assessment of the benefits and risks ofNOLVADEX therapy.Current data from clinical trials support five years of adjuvant NOLVADEX therapy for patientswith breast cancer. Reduction in Breast Cancer Incidence in High Risk Women:NOLVADEX is indicated to reduce the incidence of breast cancer in women at high risk forbreast cancer. This effect was shown in a study of 5 years planned duration with a medianfollow-up of 4.2 years. Twenty-five percent of the participants received drug for 5 years. Thelonger-term effects are not known. In this study, there was no impact of tamoxifen on overall orbreast cancer-related mortality (see BOXED WARNING at the beginning of the label).NOLVADEX is indicated only for high-risk women. âHigh riskâ is defined as women at least35 years of age with a 5-year predicted risk of breast cancer â¥ 1.67%, as calculated by the GailModel.Examples of combinations of factors predicting a 5-year risk â¥ 1.67% are:Age 35 or older and any of the following combination of factors: One first degree relative with a history of breast cancer, 2 or more benign biopsies, and ahistory of a breast biopsy showing atypical hyperplasia; or At least 2 first degree relatives with a history of breast cancer, and a personal history of atleast one breast biopsy; or LCISAge 40 or older and any of the following combination of factors: One first degree relative with a history of breast cancer, 2 or more benign biopsies, age at firstlive birth 25 or older, and age at menarche 11 or younger; or At least 2 first degree relatives with a history of breast cancer, and age at first live birth 19 oryounger; or One first degree relative with a history of breast cancer, and a personal history of a breastbiopsy showing atypical hyperplasia.Age 45 or older and any of the following combination of factors: At least 2 first degree relatives with a history of breast cancer and age at first live birth 24 oryounger; or One first degree relative with a history of breast cancer with a personal history of a benignbreast biopsy, age at menarche 11 or less and age at first live birth 20 or more.Age 50 or older and any of the following combination of factors: At least 2 first degree relatives with a history of breast cancer; or History of one breast biopsy showing atypical hyperplasia, and age at first live birth 30 orolder and age at menarche 11 or less; or History of at least two breast biopsies with a history of atypical hyperplasia, and age at firstlive birth 30 or more.Age 55 or older and any of the following combination of factors: One first degree relative with a history of breast cancer with a personal history of a benignbreast biopsy, and age at menarche 11 or less; or History of at least 2 breast biopsies with a history of atypical hyperplasia, and age at first livebirth 20 or older.Age 60 or older and: 5-year predicted risk of breast cancer â¥ 1.67%, as calculated by the Gail Model.For women whose risk factors are not described in the above examples, the Gail Model isnecessary to estimate absolute breast cancer risk. Health Care Professionals can obtain a GailModel Risk Assessment Tool by dialing 1-800-544-2007.There are insufficient data available regarding the effect of NOLVADEX on breast cancerincidence in women with inherited mutations (BRCA1, BRCA2) to be able to make specificrecommendations on the effectiveness of NOLVADEX in these patients.After an assessment of the risk of developing breast cancer, the decision regarding therapy withNOLVADEX for the reduction in breast cancer incidence should be based upon an individualassessment of the benefits and risks of NOLVADEX therapy. In the NSABP P-1 trial,NOLVADEX treatment lowered the risk of developing breast cancer during the follow-up periodof the trial, but did not eliminate breast cancer risk (See Table 3 in CLINICALPHARMACOLOGY). DrugBank Targets: ¹⁶ 1. Estrogen receptor;2. Estrogen receptor beta;3. 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase;4. Protein kinase C Mechanism of Action: ¹⁸ Target: estrogen receptors Action: competitor with estraidiol FDA: NOLVADEX is a nonsteroidal agent that has demonstrated potent antiestrogenic properties inanimal test systems. The antiestrogenic effects may be related to its ability to compete withestrogen for binding sites in target tissues such as breast. Tamoxifen inhibits the induction of ratmammary carcinoma induced by dimethylbenzanthracene (DMBA) and causes the regression ofalready established DMBA-induced tumors. In this rat model, tamoxifen appears to exert itsantitumor effects by binding the estrogen receptors.In cytosols derived from human breast adenocarcinomas, tamoxifen competes with estradiol forestrogen receptor protein.
3	Perjeta ¹⁸ ⁴⁹	PERTUZUMAB	Genentech	June 2012
FDA Label: Perjeta Disease/s that Drug Treats:HER2+ metastatic breast cancer Indications and Usage: ¹⁸ PERJETA is a HER2/neu receptor antagonist indicated for: Use in combination with trastuzumab and docetaxel for treatment ofpatients with HER2-positive metastatic breast cancer (MBC) who havenot received prior anti-HER2 therapy or chemotherapy for metastaticdisease. (1.1) Use in combination with trastuzumab and docetaxel as neoadjuvanttreatment of patients with HER2-positive, locally advanced,inflammatory, or early stage breast cancer (either greater than 2 cm indiameter or node positive) as part of a complete treatment regimen forearly breast cancer. This indication is based on demonstration of animprovement in pathological complete response rate. No data areavailable demonstrating improvement in event-free survival or overallsurvival. (1.2, 2.1, 14.2)Limitations of Use: The safety of PERJETA as part of a doxorubicin-containing regimenhas not been established. The safety of PERJETA administered for greater than 6 cycles forearly breast cancer has not been established. DrugBank Targets: ¹⁶ 1. Receptor tyrosine-protein kinase erbB-2 Mechanism of Action: ¹⁸ Target: mitogen-activated protein (MAP) kinase, phosphoinositide 3-kinase445 (PI3K) Action: inhibitor of ligand-initiated intracellular signaling FDA: Pertuzumab targets the extracellular dimerization domain (Subdomain II) of the human epidermal growth factor receptor 2 protein (HER2) and, thereby, blocks ligand-dependent heterodimerization of HER2 with other HER family members, including EGFR, HER3, and HER4. As a result, pertuzumab inhibits ligand-initiated intracellular signaling through two major signal pathways, mitogen-activated protein (MAP) kinase, and phosphoinositide 3-kinase (PI3K). Inhibition of these signaling pathways can result in cell growth arrest and apoptosis, respectively. In addition, pertuzumab mediates antibody-dependent cell-mediated cytotoxicity (ADCC). While pertuzumab alone inhibited the proliferation of human tumor cells, the combination of pertuzumab and trastuzumab augmented anti-tumor activity in HER2-overexpressing xenograft models.
4	Picato gel ¹⁸	INGENOL MEBUTATE	LEO Pharma	January 2012
FDA Label: Picato gel Disease/s that Drug Treats:actinic keratosis Indications and Usage: ¹⁸ PicatoÂ® gel is an inducer of cell death indicated for the topical treatment ofactinic keratosis. (1) DrugBank Targets: ¹⁶ 1. Protein kinase C delta type;2. Protein kinase C alpha type Mechanism of Action: ¹⁸ Target: AK lesions Action: inducer of apoptosis (otherwise, mechanism of action is unknown) FDA: The mechanism of action by which PicatoÂ® gel induces cell death in treating AK lesions isunknown.
5	Xofigo ¹⁸ ⁴⁹	RADIUM RA-223 DICHLORIDE	Bayer Healthcare Pharmaceuticals	May 2013
FDA Label: Xofigo Disease/s that Drug Treats:prostate cancer with bone metastases Indications and Usage: ¹⁸ Xofigo is an alpha particle-emitting radioactive therapeutic agent indicated forthe treatment of patients with castration-resistant prostate cancer, symptomaticbone metastases and no known visceral metastatic disease. (1) DrugBank Targets: - Mechanism of Action: ¹⁸ Target: bone mineral hydroxyapatite at areas of increased bone turnover Action: forms complexes, destroys DNA FDA: The active moiety of Xofigo is the alpha particle-emitting isotope radium-223 (as radium Ra 223 dichloride), whichmimics calcium and forms complexes with the bone mineral hydroxyapatite at areas of increased bone turnover, such asbone metastases (see Table 2). The high linear energy transfer of alpha emitters (80 keV/micrometer) leads to a highfrequency of double-strand DNA breaks in adjacent cells, resulting in an anti-tumor effect on bone metastases. The alphaparticle range from radium-223 dichloride is less than 100 micrometers (less than 10 cell diameters) which limits damageto the surrounding normal tissue.
6	Yervoy ¹⁸ ⁴⁹	IPILIMUMAB	Bristol-Myers Squibb	March 2011
FDA Label: Yervoy Disease/s that Drug Treats:metastatic melanoma Indications and Usage: ¹⁸ YERVOY is a human cytotoxic T-lymphocyte antigen 4 (CTLA-4)-blockingantibody indicated for the treatment of unresectable or metastaticmelanoma. (1) DrugBank Targets: ¹⁶ 1. Cytotoxic T-lymphocyte protein 4 Mechanism of Action: ¹⁸ Target: CTLA-4 Action: blocker of interation with CD80/CD86 FDA: CTLA-4 is a negative regulator of T-cell activity. Ipilimumab is a monoclonal antibody thatbinds to CTLA-4 and blocks the interaction of CTLA-4 with its ligands, CD80/CD86. Blockadeof CTLA-4 has been shown to augment T-cell activation and proliferation, including theactivation and proliferation of tumor infiltrating T-effector cells. Inhibition of CTLA-4 signalingcan also reduce T-regulatory cell function, which may contribute to a general increase in T cellresponsiveness, including the anti-tumor immune response.
7	Zuplenz ¹⁸	ONDANSETRON	Strativa Pharmaceuticals	July 2010
FDA Label: Zuplenz Disease/s that Drug Treats:post-operative, chemotherapy and radiotherapy induced nausea and vomiting Indications and Usage: ¹⁸ ZUPLENZ is a 5-HT3 receptor antagonist indicated for: Prevention of nausea and vomiting associated with highly emetogenic cancerchemotherapy. (1.1) Prevention of nausea and vomiting associated with initial and repeat coursesof moderately emetogenic cancer chemotherapy. (1.2) Prevention of nausea and vomiting associated with radiotherapy in patientsreceiving total body irradiation, single high-dose fraction to abdomen, ordaily fractions to the abdomen. (1.3) Prevention of postoperative nausea and/or vomiting. (1.4) DrugBank Targets: ¹⁶ 1. 5-hydroxytryptamine receptor 3A;2. 5-hydroxytryptamine receptor 4;3. Mu-type opioid receptor;4. 5-hydroxytryptamine receptor 1A;5. 5-hydroxytryptamine receptor 1B Mechanism of Action: ¹⁸ Target: 5-HT3 receptor Action: selective antagonist FDA: Ondansetron is a selective 5-HT3 receptor antagonist. While its mechanism of action has not been fully characterized, ondansetron isnot a dopamine-receptor antagonist. Serotonin receptors of the 5-HT3 type are present both peripherally on vagal nerve terminals andcentrally in the chemoreceptor trigger zone of the area postrema. It is not certain whether ondansetronâ s antiemetic action is mediatedcentrally, peripherally, or in both sites. However, cytotoxic chemotherapy appears to be associated with release of serotonin from theenterochromaffin cells of the small intestine. In humans, urinary 5-HIAA (5-hydroxyindoleacetic acid) excretion increases aftercisplatin administration in parallel with the onset of emesis. The released serotonin may stimulate the vagal afferents through the 5-HT3 receptors and initiate the vomiting reflex. In animals, the emetic response to cisplatin can be prevented by pretreatment with aninhibitor of serotonin synthesis, bilateral abdominal vagotomy and greater splanchnic nerve section, or pretreatment with a serotonin5-HT3 receptor antagonist.

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Masitinib in Severe Indolent or Smoldering Systemic Mastocytosis	Completed	NCT00814073	Phase 3	Masitinib;Placebo
2	Study on Mastocytosis for Rupatadine Treatment	Completed	NCT01481909	Phase 2, Phase 3	Rupatadin
3	Efficacy and Safety of TF002 in Cutaneous Mastocytosis	Completed	NCT00457288	Phase 2	TF 002
4	(PIONEER) Study to Evaluate Efficacy and Safety of Avapritinib (BLU-285), A Selective KIT Mutation-targeted Tyrosine Kinase Inhibitor, Versus Placebo in Patients With Indolent and Smoldering Systemic Mastocytosis	Recruiting	NCT03731260	Phase 2	Avapritinib;Placebo
5	Cutaneous Mastocytosis in Children: Analysis of Somatic and Germline Mutations	Recruiting	NCT02761473
6	Adaptation of the Questionnaire "Regarding Patient's Quality of Life With Mastocytosis" in the French Language	Not yet recruiting	NCT03632811
7	Diagnostic Value of Bone Marrow Tryptase in Systemic Mastocytosis	Recruiting	NCT02441166	Not Applicable
8	Mast Cell Connect: A Registry for Patients With Mastocytosis	Recruiting	NCT02620254
9	Natural History of Urticaria Pigmentosa in Children	Completed	NCT00467792

Search NIH Clinical Center for Mastocytosis, Cutaneous

Cochrane evidence based reviews: mastocytosis, cutaneous

Sources

Genetic Tests for Mastocytosis, Cutaneous

Genetic tests related to Mastocytosis, Cutaneous:

#	Genetic test	Affiliating Genes
1	Mast Cell Leukemia ²⁹
2	Cutaneous Mastocytosis ²⁹

Sources

Anatomical Context for Mastocytosis, Cutaneous

MalaCards organs/tissues related to Mastocytosis, Cutaneous:

⁴¹

Skin, Bone, Liver, Spleen, Bone Marrow, Lung, Kidney

Sources

Publications for Mastocytosis, Cutaneous

Articles related to Mastocytosis, Cutaneous:

(show top 50) (show all 392)

#	Title	Authors	Year
1	Urticaria Pigmentosa (Cutaneous Mastocytosis) ( 29494109 )	Macri A....Cook C.	2018
2	Coexistence of urticaria pigmentosa and thalassemia minor in a young adult. ( 29785323 )		2018
3	Oral suplatast tosilate for the treatment of urticaria pigmentosa, skin lesion in mastocytosis. ( 30456758 )	Nishihira M...Miura H	2018
4	Darier's sign in urticaria pigmentosa-significance of perivascular eosinophilic infiltration. ( 30007512 )	Maehara E...Furue M	2018
5	Longitudinal Study of Pediatric Urticaria Pigmentosa. ( 28133781 )	Heinze A....Galbraith S.S.	2017
6	Testicular Cancer in Monozygotic Twin Brothers with Urticaria Pigmentosa. ( 29230478 )	PAcA8ovA! T....Pec J.	2017
7	Urticaria pigmentosa with concomitant polycythaemia vera in a 3-year-old boy. ( 28614617 )		2017
8	Urticaria Pigmentosa Mimicking Multiple Lentigine-like Brownish Macules in a 22-Month-Old Boy. ( 28480643 )		2017
9	General Anesthesia in a Patient With Urticaria Pigmentosa Referred for Electroconvulsive Therapy. ( 26934274 )		2016
10	Sustained improvement in urticaria pigmentosa and pruritus in a case of indolent systemic mastocytosis treated with cladribine. ( 25515765 )	Lock A.D....Rustin M.H.	2015
11	Urticaria pigmentosa-like disease in a dog. ( 25750443 )	Pariser M.S....Gram D.W.	2015
12	Urticaria pigmentosa masquerading as non-accidental injury. ( 25784750 )	Ramphul N....Carmichael A.J.	2015
13	NKp46 regulates the production of serine proteases and IL-22 in human mast cells in urticaria pigmentosa. ( 25940096 )		2015
14	Urticaria pigmentosa. ( 26752589 )		2015
15	Urticaria pigmentosa complicated with esophageal eosinophilia. ( 25437994 )	Nin-Asai R....Akiyama M.	2014
16	Telangiectasia macularis eruptiva perstans or highly vascularized urticaria pigmentosa? ( 25439382 )	Williams K.W....Komarow H.D.	2014
17	A 1-year-old boy with persistent, generalized eruption. Urticaria pigmentosa. ( 24549082 )	Mir A....Chamlin S.L.	2014
18	A segmental rash in a young male: a quiz. Naevoid urticaria pigmentosa. ( 23828224 )		2014
19	Response of urticaria pigmentosa to cladribine in a patient with systemic mastocytosis. ( 23205635 )	Bennett M....Chubar Y.	2013
20	Dermatoscopic findings of urticaria pigmentosa. ( 24474113 )		2013
21	Familial urticaria pigmentosa: report of a family and review of the role of KIT mutations. ( 22892471 )		2013
22	Cutaneous mastocytosis: a case of bullous urticaria pigmentosa. ( 23513553 )		2013
23	Urticaria pigmentosa in a female patient with celiac disease: response to a gluten-free diet. ( 22465751 )		2013
24	Acute interstitial nephritis secondary to long-term use of cetirizine for the treatment of urticaria pigmentosa. ( 23083330 )		2013
25	Nevoid urticaria pigmentosa along Blaschko's line. ( 22221017 )	Cheng Y.P....Dai Y.S.	2012
26	Dermatophytosis and papular eosinophilic/mastocytic dermatitis (urticaria pigmentosa-like dermatitis) in three Devon Rex cats. ( 22736683 )		2012
27	Urticaria pigmentosa after treatment with TNF antagonists: a case report. ( 22184778 )	Leloup P....DrAcno B.	2011
28	Cutaneous mastocytosis in twins: multiple mastocytomas and urticaria pigmentosa in two pairs of monozygotic twins. ( 21385209 )	De la Sotta P....GonzA!lez S.	2011
29	Gastroesophageal reflux disease accompanying urticaria pigmentosa. ( 22185927 )		2011
30	Megalocornea-urticaria pigmentosa syndrome--a new syndrome? ( 19706342 )	Avela K....PAorssinen O.	2009
31	[Urticaria pigmentosa: a current approach]. ( 19768974 )	PAcrez-Elizondo A.D....del Pino-Rojas G.T.	2009
32	Generalized brownish macules in infancy. Urticaria pigmentosa. ( 19873965 )	Islas A.A....Penaranda E.	2009
33	Urticaria pigmentosa associated with acute stress and lesional skin mast-cell expression of CRF-R1. ( 19094125 )		2009
34	Picture of the month. Urticaria pigmentosa. ( 18391148 )	Bajoghli A.A....Blankenship C.M.	2008
35	CD25 expression on cutaneous mast cells from adult patients presenting with urticaria pigmentosa is predictive of systemic mastocytosis. ( 18162781 )	Hollmann T.J....Hornick J.L.	2008
36	Mastocytosis with urticaria pigmentosa and osteoporosis. ( 19061601 )	Stein J.A....Pomeranz M.K.	2008
37	What is your diagnosis? Cutaneous mastocytosis (urticaria pigmentosa). ( 18543588 )		2008
38	Urticaria pigmentosa. A case report. ( 18709295 )		2008
39	Combined Mastocytoma-hemangioma in a Patient with Urticaria Pigmentosa. ( 27303182 )	Seung NR...Kim KJ	2008
40	Unusual cutaneous findings of urticaria pigmentosa and telangiectasia macularis eruptiva perstans associated with marked myelofibrosis. ( 17040445 )	Turchin I....Schloss E.	2006
41	Urticaria pigmentosa and mastocytosis: the role of immunophenotyping in diagnosis and determining response to treatment. ( 16822380 )	Akin C....Escribano L.	2006
42	Anesthetic management of a labouring parturient with urticaria pigmentosa. ( 16575037 )		2006
43	The cosmetic treatment of urticaria pigmentosa with Nd:YAG laser at 532 nanometers. ( 17166203 )	Resh B....Glaser D.A.	2005
44	Intertriginous urticaria pigmentosa. ( 15604555 )		2005
45	Nodular scabies mimicking urticaria pigmentosa in an infant. ( 16045712 )		2005
46	Urticaria pigmentosa. ( 15120152 )	Brockow K.	2004
47	Localized urticaria pigmentosa triggered by mesotherapy. ( 15539904 )	Bessis D....Guillot B.	2004
48	Papular eosinophilic/mastocytic dermatitis (feline urticaria pigmentosa) in Devon Rex cats: A distinct disease entity or a histopathological reaction pattern? ( 15305933 )	Noli C....Scarampella F.	2004
49	Evolution of urticaria pigmentosa into indolent systemic mastocytosis: abnormal immunophenotype of mast cells without evidence of c-kit mutation ASP-816-VAL. ( 12688351 )	Noack F....Horny H.P.	2003
50	Familial urticaria pigmentosa associated with thrombocytosis as the initial symptom of systemic mastocytosis and Down's syndrome. ( 14761147 )	Lappe U....Gollnick H.	2003

Sources

Genes for Mastocytosis, Cutaneous

Genes related to Mastocytosis, Cutaneous (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KIT	KIT Proto-Oncogene Receptor Tyrosine Kinase	Protein Coding	959.92	Molecular basis known ⁵⁷ Pathogenic ⁶ DISEASES inferred ¹⁵ ¹⁵ ¹⁵ Novoseek inferred ⁵⁵	9029028 7691885 7479840 (more) 9990072 9827716 8589724 11380399 11493470 19262599 19865100 15173254 21689725 11505412 10354021 9129234 8589724 10698217 7536501 17259998 10210327 9714703 18644978 12145988 15902997 12824871 7479840 10824925 9209403 19602070 16543062 9989791 16579858 8605325 7513208 16129412 16921872 16226710 19732733 9004081 17949810 16093434 10910906 19771231 11290608 16189265 7691885 12893208 11381374
2	KITLG	KIT Ligand	Protein Coding	45.77	DISEASES inferred ¹⁵ ¹⁵ Novoseek inferred ⁵⁵	7528242 7547385 10586131 (more) 8809429 19397569 9371257 7512180 7691885
3	CMA1	Chymase 1	Protein Coding	29.93	DISEASES inferred ¹⁵ ¹⁵ Novoseek inferred ⁵⁵	1900681 8601622
4	NTRK3	Neurotrophic Receptor Tyrosine Kinase 3	Protein Coding	25.55	Novoseek inferred ⁵⁵	7536501 7513208 9209403
5	ATP7A	ATPase Copper Transporting Alpha	Protein Coding	25.22	DISEASES inferred ¹⁵ ¹⁵ ¹⁵
6	OSMR	Oncostatin M Receptor	Protein Coding	22.68	DISEASES inferred ¹⁵ ¹⁵ ¹⁵
7	CTSG	Cathepsin G	Protein Coding	20.86	DISEASES inferred ¹⁵ ¹⁵ Novoseek inferred ⁵⁵	7929211
8	FIP1L1	Factor Interacting With PAPOLA And CPSF1	Protein Coding	20.23	DISEASES inferred ¹⁵ ¹⁵
9	CD2	CD2 Molecule	Protein Coding	20.18	DISEASES inferred ¹⁵ ¹⁵
10	SERPINB6	Serpin Family B Member 6	Protein Coding	19.27	DISEASES inferred ¹⁵ ¹⁵

Sources

Variations for Mastocytosis, Cutaneous

ClinVar genetic disease variations for Mastocytosis, Cutaneous:

⁶ (show top 50) (show all 77)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	KIT	NM_000222.2(KIT): c.2459A> G (p.Asp820Gly)	single nucleotide variant	Pathogenic	rs121913682	GRCh38	Chromosome 4, 54733167: 54733167
2	KIT	NM_000222.2(KIT): c.2459A> G (p.Asp820Gly)	single nucleotide variant	Pathogenic	rs121913682	GRCh37	Chromosome 4, 55599333: 55599333
3	KIT	NM_000222.2(KIT): c.2447A> T (p.Asp816Val)	single nucleotide variant	Uncertain significance	rs121913507	GRCh37	Chromosome 4, 55599321: 55599321
4	KIT	NM_000222.2(KIT): c.2447A> T (p.Asp816Val)	single nucleotide variant	Uncertain significance	rs121913507	GRCh38	Chromosome 4, 54733155: 54733155
5	KIT	NM_000222.2(KIT): c.2515G> A (p.Glu839Lys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121913509	GRCh37	Chromosome 4, 55602694: 55602694
6	KIT	NM_000222.2(KIT): c.2515G> A (p.Glu839Lys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121913509	GRCh38	Chromosome 4, 54736528: 54736528
7	KIT	NM_000222.2(KIT): c.1676T> C (p.Val559Ala)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121913517	GRCh37	Chromosome 4, 55593610: 55593610
8	KIT	NM_000222.2(KIT): c.1676T> C (p.Val559Ala)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121913517	GRCh38	Chromosome 4, 54727444: 54727444
9	KIT	NM_000222.2(KIT): c.1621A> C (p.Met541Leu)	single nucleotide variant	Benign/Likely benign	rs3822214	GRCh37	Chromosome 4, 55593464: 55593464
10	KIT	NM_000222.2(KIT): c.1621A> C (p.Met541Leu)	single nucleotide variant	Benign/Likely benign	rs3822214	GRCh38	Chromosome 4, 54727298: 54727298
11	KIT	NM_000222.2(KIT): c.252G> T (p.Thr84=)	single nucleotide variant	Benign/Likely benign	rs56411694	GRCh37	Chromosome 4, 55561862: 55561862
12	KIT	NM_000222.2(KIT): c.252G> T (p.Thr84=)	single nucleotide variant	Benign/Likely benign	rs56411694	GRCh38	Chromosome 4, 54695696: 54695696
13	KIT	NM_000222.2(KIT): c.1119C> T (p.Tyr373=)	single nucleotide variant	Benign/Likely benign	rs72549293	GRCh38	Chromosome 4, 54709427: 54709427
14	KIT	NM_000222.2(KIT): c.1119C> T (p.Tyr373=)	single nucleotide variant	Benign/Likely benign	rs72549293	GRCh37	Chromosome 4, 55575593: 55575593
15	KIT	NM_000222.2(KIT): c.1794A> T (p.Gly598=)	single nucleotide variant	Benign/Likely benign	rs72549292	GRCh38	Chromosome 4, 54727842: 54727842
16	KIT	NM_000222.2(KIT): c.1794A> T (p.Gly598=)	single nucleotide variant	Benign/Likely benign	rs72549292	GRCh37	Chromosome 4, 55594008: 55594008
17	KIT	NM_000222.2(KIT): c.200C> G (p.Thr67Ser)	single nucleotide variant	Uncertain significance	rs144933028	GRCh38	Chromosome 4, 54695644: 54695644
18	KIT	NM_000222.2(KIT): c.200C> G (p.Thr67Ser)	single nucleotide variant	Uncertain significance	rs144933028	GRCh37	Chromosome 4, 55561810: 55561810
19	KIT	NM_000222.2(KIT): c.1274T> A (p.Met425Lys)	single nucleotide variant	Uncertain significance	rs878853760	GRCh38	Chromosome 4, 54723626: 54723626
20	KIT	NM_000222.2(KIT): c.1274T> A (p.Met425Lys)	single nucleotide variant	Uncertain significance	rs878853760	GRCh37	Chromosome 4, 55589792: 55589792
21	KIT	NM_000222.2(KIT): c.2670C> T (p.Leu890=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs745967881	GRCh38	Chromosome 4, 54736794: 54736794
22	KIT	NM_000222.2(KIT): c.2670C> T (p.Leu890=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs745967881	GRCh37	Chromosome 4, 55602960: 55602960
23	KIT	NM_000222.2(KIT): c.2802+9A> G	single nucleotide variant	Conflicting interpretations of pathogenicity	rs369450271	GRCh38	Chromosome 4, 54737289: 54737289
24	KIT	NM_000222.2(KIT): c.2802+9A> G	single nucleotide variant	Conflicting interpretations of pathogenicity	rs369450271	GRCh37	Chromosome 4, 55603455: 55603455
25	KIT	NM_000222.2(KIT): c.-14T> A	single nucleotide variant	Conflicting interpretations of pathogenicity	rs140909964	GRCh38	Chromosome 4, 54658001: 54658001
26	KIT	NM_000222.2(KIT): c.-14T> A	single nucleotide variant	Conflicting interpretations of pathogenicity	rs140909964	GRCh37	Chromosome 4, 55524168: 55524168
27	KIT	NM_000222.2(KIT): c.1638A> G (p.Lys546=)	single nucleotide variant	Benign/Likely benign	rs55986963	GRCh38	Chromosome 4, 54727315: 54727315
28	KIT	NM_000222.2(KIT): c.1638A> G (p.Lys546=)	single nucleotide variant	Benign/Likely benign	rs55986963	GRCh37	Chromosome 4, 55593481: 55593481
29	KIT	NM_000222.2(KIT): c.2394C> T (p.Ile798=)	single nucleotide variant	Benign/Likely benign	rs55789615	GRCh38	Chromosome 4, 54733102: 54733102
30	KIT	NM_000222.2(KIT): c.2394C> T (p.Ile798=)	single nucleotide variant	Benign/Likely benign	rs55789615	GRCh37	Chromosome 4, 55599268: 55599268
31	KIT	NM_000222.2(KIT): c.2586G> C (p.Leu862=)	single nucleotide variant	Benign/Likely benign	rs3733542	GRCh38	Chromosome 4, 54736599: 54736599
32	KIT	NM_000222.2(KIT): c.2586G> C (p.Leu862=)	single nucleotide variant	Benign/Likely benign	rs3733542	GRCh37	Chromosome 4, 55602765: 55602765
33	KIT	NM_000222.2(KIT): c.2847C> T (p.Pro949=)	single nucleotide variant	Benign/Likely benign	rs56288823	GRCh37	Chromosome 4, 55604639: 55604639
34	KIT	NM_000222.2(KIT): c.2847C> T (p.Pro949=)	single nucleotide variant	Benign/Likely benign	rs56288823	GRCh38	Chromosome 4, 54738473: 54738473
35	KIT	NM_000222.2(KIT): c.2923G> C (p.Asp975His)	single nucleotide variant	Uncertain significance	rs373152714	GRCh37	Chromosome 4, 55604715: 55604715
36	KIT	NM_000222.2(KIT): c.2923G> C (p.Asp975His)	single nucleotide variant	Uncertain significance	rs373152714	GRCh38	Chromosome 4, 54738549: 54738549
37	KIT	NM_000222.2(KIT): c.*368C> T	single nucleotide variant	Uncertain significance	rs886059465	GRCh37	Chromosome 4, 55605091: 55605091
38	KIT	NM_000222.2(KIT): c.*368C> T	single nucleotide variant	Uncertain significance	rs886059465	GRCh38	Chromosome 4, 54738925: 54738925
39	KIT	NM_000222.2(KIT): c.*597C> T	single nucleotide variant	Uncertain significance	rs746982052	GRCh37	Chromosome 4, 55605320: 55605320
40	KIT	NM_000222.2(KIT): c.*597C> T	single nucleotide variant	Uncertain significance	rs746982052	GRCh38	Chromosome 4, 54739154: 54739154
41	KIT	NM_000222.2(KIT): c.*1059C> T	single nucleotide variant	Uncertain significance	rs886059467	GRCh37	Chromosome 4, 55605782: 55605782
42	KIT	NM_000222.2(KIT): c.*1059C> T	single nucleotide variant	Uncertain significance	rs886059467	GRCh38	Chromosome 4, 54739616: 54739616
43	KIT	NM_000222.2(KIT): c.*1101A> G	single nucleotide variant	Uncertain significance	rs886059468	GRCh38	Chromosome 4, 54739658: 54739658
44	KIT	NM_000222.2(KIT): c.*1101A> G	single nucleotide variant	Uncertain significance	rs886059468	GRCh37	Chromosome 4, 55605824: 55605824
45	KIT	NM_000222.2(KIT): c.*1704G> T	single nucleotide variant	Likely benign	rs8022	GRCh38	Chromosome 4, 54740261: 54740261
46	KIT	NM_000222.2(KIT): c.*1704G> T	single nucleotide variant	Likely benign	rs8022	GRCh37	Chromosome 4, 55606427: 55606427
47	KIT	NM_000222.2(KIT): c.*149C> T	single nucleotide variant	Likely benign	rs2213181	GRCh37	Chromosome 4, 55604872: 55604872
48	KIT	NM_000222.2(KIT): c.*149C> T	single nucleotide variant	Likely benign	rs2213181	GRCh38	Chromosome 4, 54738706: 54738706
49	KIT	NM_000222.2(KIT): c.*252G> T	single nucleotide variant	Uncertain significance	rs376694515	GRCh37	Chromosome 4, 55604975: 55604975
50	KIT	NM_000222.2(KIT): c.*252G> T	single nucleotide variant	Uncertain significance	rs376694515	GRCh38	Chromosome 4, 54738809: 54738809

Sources

Expression for Mastocytosis, Cutaneous

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

Sources

Pathways for Mastocytosis, Cutaneous

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

#	Super pathways	Score	Top Affiliating Genes
1	Akt Signaling ⁶⁴ Show member pathways p38 Signaling ⁶⁴ Tec Kinases Signaling ⁶⁴	12.91	CD2 KIT KITLG NTRK3 OSMR
2	PAK Pathway ⁶⁴ Show member pathways Antioxidant Action of Vitamin-C ⁶⁴ Epithelial Adherens Junctions ⁶⁴	12.72	CD2 KIT KITLG NTRK3 OSMR
3	NF-kappaB Signaling ⁴	12.15	CD2 KIT KITLG
4	Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁵	11.2	CD2 KIT KITLG
5	Differentiation Pathway ¹	11.11	KIT KITLG
6	Melanocyte Development and Pigmentation ⁶⁴	11.02	KIT KITLG
7	Hematopoietic cell lineage ³⁷	10.79	CD2 KIT KITLG
8	G-protein signaling_Rap2B regulation pathway ²²	10.53	CD2 KIT KITLG NTRK3
9	Regulation of KIT signaling ⁶⁶	10.36	KIT KITLG

Sources

GO Terms for Mastocytosis, Cutaneous

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

#	Name	GO ID	Score	Top Affiliating Genes
1	plasma membrane	GO:0005886	9.76	ATP7A CD2 CTSG KIT KITLG NTRK3
2	collagen-containing extracellular matrix	GO:0062023	9.43	CMA1 CTSG SERPINB6
3	receptor complex	GO:0043235	9.13	KIT NTRK3 OSMR
4	secretory granule	GO:0030141	8.8	ATP7A CMA1 CTSG

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

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of cell proliferation	GO:0008284	9.62	KIT KITLG NTRK3 OSMR
2	ovarian follicle development	GO:0001541	9.4	KIT KITLG
3	pigmentation	GO:0043473	9.37	ATP7A KIT
4	embryonic hemopoiesis	GO:0035162	9.26	KIT KITLG
5	positive regulation of phospholipase C activity	GO:0010863	9.16	KIT NTRK3
6	angiotensin maturation	GO:0002003	8.96	CMA1 CTSG
7	ectopic germ cell programmed cell death	GO:0035234	8.62	KIT KITLG

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

#	Name	GO ID	Score	Top Affiliating Genes
1	transmembrane receptor protein tyrosine kinase activity	GO:0004714	8.96	KIT NTRK3
2	cytokine binding	GO:0019955	8.62	KIT OSMR

Sources

Sources for Mastocytosis, Cutaneous

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

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⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Mastocytosis, Cutaneous (MASTC)

Aliases & Classifications for Mastocytosis, Cutaneous

MalaCards integrated aliases for Mastocytosis, Cutaneous:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Mastocytosis, Cutaneous

Related Diseases for Mastocytosis, Cutaneous

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

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

Symptoms & Phenotypes for Mastocytosis, Cutaneous

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Mastocytosis, Cutaneous:

MGI Mouse Phenotypes related to Mastocytosis, Cutaneous:

Drugs & Therapeutics for Mastocytosis, Cutaneous

FDA approved drugs:

Interventional clinical trials:

Cochrane evidence based reviews: mastocytosis, cutaneous

Genetic Tests for Mastocytosis, Cutaneous

Genetic tests related to Mastocytosis, Cutaneous:

Anatomical Context for Mastocytosis, Cutaneous

MalaCards organs/tissues related to Mastocytosis, Cutaneous:

Publications for Mastocytosis, Cutaneous

Articles related to Mastocytosis, Cutaneous:

Genes for Mastocytosis, Cutaneous

Genes related to Mastocytosis, Cutaneous (1 elite genes):

Variations for Mastocytosis, Cutaneous

ClinVar genetic disease variations for Mastocytosis, Cutaneous:

Expression for Mastocytosis, Cutaneous

Pathways for Mastocytosis, Cutaneous

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

GO Terms for Mastocytosis, Cutaneous

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

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

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

Sources for Mastocytosis, Cutaneous