Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MASTC
MCID: MST024
MIFTS: 62

Mastocytosis, Cutaneous (MASTC)

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

Aliases & Classifications for Mastocytosis, Cutaneous

About this section

MalaCards integrated aliases for Mastocytosis, Cutaneous:

Name: Mastocytosis, Cutaneous 58 76 45
Urticaria Pigmentosa 58 12 77 54 60 76 56 45 15
Cutaneous Mastocytosis 12 54 6 15 17
Diffuse Cutaneous Mastocytosis 12 54 60 15
Maculopapular Cutaneous Mastocytosis 54 60 17
Mast Cell Leukemia 76 30 6
Diffuse Cutaneous Maculopapulous Mastocytosis 54 60
Mastocytosis, Maculopapular Cutaneous 58 76
Mastocytosis, Diffuse Cutaneous 58 76
Mastocytosis, Systemic, Somatic 58 6
Mastc 58 76
Dcm 54 60
Mastocytosis with Associated Hematologic Disorder 76
Mastocytosis, Systemic 76
Mastocytosis, Indolent 76
Leukemia Mast Cell 56
Mast Cell Disease 76
Mast-Cell Disease 76
Mastocytoma 54
Up/mpcm 12
Mastsys 76
Cm 12

Characteristics:

Orphanet epidemiological data:

60
diffuse cutaneous mastocytosis
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
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: 35
Orphanet: 60  
Rare skin diseases
Rare haematological diseases


Sources

Summaries for Mastocytosis, Cutaneous

About this section
OMIM : 58 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 Cladribine and Histamine Antagonists have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and liver, and related phenotypes are abnormal blistering of the skin and pruritus

NIH Rare Diseases : 54 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 : 76 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 : 77 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 560)
# Related Disease Score Top Affiliating Genes
1 cutaneous solitary mastocytoma 33.3 CD2 CMA1 KIT KITLG
2 mastocytosis 31.7 CD2 FIP1L1 KIT KITLG
3 aggressive systemic mastocytosis 30.3 KIT KITLG
4 extracutaneous mastocytoma 30.1 CD2 KIT
5 indolent systemic mastocytosis 30.1 CD2 KIT KITLG
6 mast-cell leukemia 30.0 ATP7A KIT KITLG
7 gastrointestinal stromal tumor 30.0 KIT KITLG NTRK3
8 neurofibroma 29.9 KIT KITLG
9 polycythemia vera 29.9 IL3 KIT KITLG
10 mast cell neoplasm 29.8 CD2 CMA1 KIT KITLG
11 hypereosinophilic syndrome 29.7 FIP1L1 IL3 KIT
12 chronic eosinophilic leukemia 29.5 FIP1L1 KIT
13 leukemia, acute myeloid 29.5 CD2 IL3 KIT KITLG
14 systemic mastocytosis 29.4 CD2 FIP1L1 KIT KITLG
15 hypereosinophilic syndrome, idiopathic 29.4 FIP1L1 IL3 KIT
16 hematologic cancer 29.3 CD2 IL3 KIT KITLG
17 sm-ahnmd 29.3 CD2 FIP1L1 KIT
18 aleukemic mast cell leukemia 12.4
19 nodular urticaria pigmentosa 12.3
20 classic mast cell leukemia 12.3
21 pseudoxanthomatous diffuse cutaneous mastocytosis 12.3
22 cutaneous mastocytosis, conductive hearing loss and microtia 12.2
23 bullous diffuse cutaneous mastocytosis 12.2
24 mastocytosis cutaneous with short stature conductive hearing loss and microtia 12.2
25 plaque-form urticaria pigmentosa 12.2
26 typical urticaria pigmentosa 12.2
27 dilated cardiomyopathy 12.2
28 benign mastocytoma 12.1
29 congenital myasthenic syndrome 12.0
30 capillary malformation-arteriovenous malformation 1 11.9
31 myasthenic syndrome, congenital, 6, presynaptic 11.8
32 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 11.8
33 myasthenic syndrome, congenital, 1a, slow-channel 11.7
34 myasthenic syndrome, congenital, 5 11.7
35 myasthenic syndrome, congenital, 10 11.7
36 myasthenic syndrome, congenital, 4a, slow-channel 11.7
37 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 11.7
38 chronic mountain sickness 11.5
39 congenital myasthenic syndrome with episodic apnea 11.5
40 mast-cell sarcoma 11.5
41 chiari malformation type ii 11.3
42 chiari malformation 11.3
43 malaria 11.3
44 aortic aneurysm, familial abdominal, 1 11.3
45 3-methylglutaconic aciduria, type v 11.3
46 cutaneous mastocytoma 11.2
47 mastocytic enterocolitis 11.2
48 thyroid cancer, nonmedullary, 1 11.2
49 monoclonal mast cell activation syndrome 11.2
50 megalencephaly-capillary malformation-polymicrogyria syndrome 11.2

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:

60 33 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal blistering of the skin 60 33 occasional (7.5%) Very frequent (99-80%) HP:0008066
2 pruritus 60 33 hallmark (90%) Frequent (79-30%),Very frequent (99-80%) HP:0000989
3 macule 60 33 hallmark (90%) Very frequent (99-80%) HP:0012733
4 hypermelanotic macule 60 33 hallmark (90%) Very frequent (99-80%) HP:0001034
5 papule 60 33 hallmark (90%) Very frequent (99-80%) HP:0200034
6 abnormality of skin pigmentation 60 33 hallmark (90%) Frequent (79-30%) HP:0001000
7 erythroderma 60 33 occasional (7.5%) Very frequent (99-80%) HP:0001019
8 skin plaque 60 33 hallmark (90%) Very frequent (99-80%) HP:0200035
9 cutaneous mastocytosis 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0200151
10 multiple cafe-au-lait spots 33 hallmark (90%) HP:0007565
11 nausea and vomiting 60 33 occasional (7.5%) Frequent (79-30%) HP:0002017
12 hypotension 60 33 occasional (7.5%) Frequent (79-30%) HP:0002615
13 dyspnea 60 33 occasional (7.5%) Frequent (79-30%) HP:0002094
14 headache 60 33 occasional (7.5%) Frequent (79-30%) HP:0002315
15 diarrhea 60 33 occasional (7.5%) Frequent (79-30%) HP:0002014
16 thickened skin 60 33 frequent (33%) Frequent (79-30%) HP:0001072
17 cardiac arrest 60 33 occasional (7.5%) Frequent (79-30%) HP:0001695
18 rhinitis 60 33 frequent (33%) Frequent (79-30%) HP:0012384
19 dermatographic urticaria 60 33 frequent (33%) Frequent (79-30%) HP:0011971
20 abdominal pain 33 frequent (33%) HP:0002027
21 hepatomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0002240
22 malabsorption 60 33 occasional (7.5%) Occasional (29-5%) HP:0002024
23 telangiectasia of the skin 60 33 occasional (7.5%) Occasional (29-5%) HP:0100585
24 gastrointestinal hemorrhage 60 33 occasional (7.5%) Occasional (29-5%) HP:0002239
25 skin nodule 60 33 occasional (7.5%) Occasional (29-5%) HP:0200036
26 leukemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001909
27 anaphylactic shock 60 33 occasional (7.5%) Occasional (29-5%) HP:0100845
28 depressivity 33 occasional (7.5%) HP:0000716
29 splenomegaly 33 occasional (7.5%) HP:0001744
30 fatigue 33 occasional (7.5%) HP:0012378
31 osteoporosis 33 occasional (7.5%) HP:0000939
32 anxiety 33 occasional (7.5%) HP:0000739
33 alopecia 33 occasional (7.5%) HP:0001596
34 sarcoma 33 occasional (7.5%) HP:0100242
35 asthma 33 occasional (7.5%) HP:0002099
36 recurrent fractures 33 occasional (7.5%) HP:0002757
37 hypercalcemia 33 occasional (7.5%) HP:0003072
38 cough 33 occasional (7.5%) HP:0012735
39 increased bone mineral density 33 occasional (7.5%) HP:0011001
40 myeloproliferative disorder 33 occasional (7.5%) HP:0005547
41 urticaria 60 33 Frequent (79-30%) HP:0001025
42 edema 33 HP:0000969
43 erythema 33 HP:0010783
44 telangiectasia macularis eruptiva perstans 33 HP:0007583

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Mastocytosis, Cutaneous:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 9.1 ATP7A CD2 CTSG KIT NTRK3 SERPINB6
Sources

Drugs & Therapeutics for Mastocytosis, Cutaneous

About this section

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cladribine Approved, Investigational Phase 3 4291-63-8 20279
2 Histamine Antagonists Phase 3,Phase 2
3 Interferon-alpha Phase 3
4 Histamine H1 Antagonists Phase 3
5 Cromolyn Sodium Phase 3
6 Leukotriene Antagonists Phase 3
7 2-chloro-3'-deoxyadenosine Phase 3
8 Antidepressive Agents Phase 3
9 Proton Pump Inhibitors Phase 3
10 interferons Phase 3
11
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057

Interventional clinical trials:

(show all 12)
# 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 Ultraviolet (UVA and UVB) Light Therapy in the Treatment of Inflammatory Skin Conditions Terminated NCT00129415 Phase 1, Phase 2
6 Cutaneous Mastocytosis in Children: Analysis of Somatic and Germline Mutations Active, not recruiting NCT02761473
7 Adaptation of the Questionnaire "Regarding Patient's Quality of Life With Mastocytosis" in the French Language Not yet recruiting NCT03632811
8 Diagnostic Value of Bone Marrow Tryptase in Systemic Mastocytosis Recruiting NCT02441166 Not Applicable
9 Mast Cell Connect: A Registry for Patients With Mastocytosis Recruiting NCT02620254
10 Natural History of Urticaria Pigmentosa in Children Completed NCT00467792
11 Cytokine Production Patterns in Patients With Systemic Mastocytosis Compared With Atopic Dermatitis and Healthy Individuals Completed NCT00001760
12 Cause and Natural Course of Pediatric-Onset Mastocytosis Completed NCT00050193

Search NIH Clinical Center for Mastocytosis, Cutaneous

Cochrane evidence based reviews: mastocytosis, cutaneous

Sources

Genetic Tests for Mastocytosis, Cutaneous

About this section

Genetic tests related to Mastocytosis, Cutaneous:

# Genetic test Affiliating Genes
1 Mast Cell Leukemia 30
Sources

Anatomical Context for Mastocytosis, Cutaneous

About this section

MalaCards organs/tissues related to Mastocytosis, Cutaneous:

42
Skin, Bone, Liver, Kidney, Spleen, Lung, Breast
Sources

Publications for Mastocytosis, Cutaneous

About this section

Articles related to Mastocytosis, Cutaneous:

(show top 50) (show all 403)
# Title Authors Year
1
Oral suplatast tosilate for the treatment of urticaria pigmentosa, skin lesion in mastocytosis. ( 30456758 )
2019
2
Urticaria pigmentosa-like skin disease in a domestic shorthair cat. ( 30671254 )
2019
3
Coexistence of urticaria pigmentosa and thalassemia minor in a young adult. ( 29785323 )
2018
4
Darier's sign in urticaria pigmentosa-significance of perivascular eosinophilic infiltration. ( 30007512 )
2018
5
Testicular Cancer in Monozygotic Twin Brothers with Urticaria Pigmentosa. ( 29230478 )
2018
6
Urticaria Pigmentosa Mimicking Multiple Lentigine-like Brownish Macules in a 22-Month-Old Boy. ( 28480643 )
2017
7
Longitudinal Study of Pediatric Urticaria Pigmentosa. ( 28133781 )
2017
8
Urticaria pigmentosa with concomitant polycythaemia vera in a 3-year-old boy. ( 28614617 )
2017
9
General Anesthesia in a Patient With Urticaria Pigmentosa Referred for Electroconvulsive Therapy. ( 26934274 )
2016
10
Urticaria pigmentosa. ( 26752589 )
2015
11
Urticaria pigmentosa masquerading as non-accidental injury. ( 25784750 )
2015
12
Urticaria pigmentosa-like disease in a dog. ( 25750443 )
2015
13
NKp46 regulates the production of serine proteases and IL-22 in human mast cells in urticaria pigmentosa. ( 25940096 )
2015
14
Sustained improvement in urticaria pigmentosa and pruritus in a case of indolent systemic mastocytosis treated with cladribine. ( 25515765 )
2015
15
Telangiectasia macularis eruptiva perstans or highly vascularized urticaria pigmentosa? ( 25439382 )
2014
16
Urticaria pigmentosa complicated with esophageal eosinophilia. ( 25437994 )
2014
17
A 1-year-old boy with persistent, generalized eruption. Urticaria pigmentosa. ( 24549082 )
2014
18
A segmental rash in a young male: a quiz. Naevoid urticaria pigmentosa. ( 23828224 )
2014
19
Acute interstitial nephritis secondary to long-term use of cetirizine for the treatment of urticaria pigmentosa. ( 23083330 )
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
Urticaria pigmentosa in a female patient with celiac disease: response to a gluten-free diet. ( 22465751 )
2013
23
Response of urticaria pigmentosa to cladribine in a patient with systemic mastocytosis. ( 23205635 )
2013
24
Cutaneous mastocytosis: a case of bullous urticaria pigmentosa. ( 23513553 )
2013
25
Dermatophytosis and papular eosinophilic/mastocytic dermatitis (urticaria pigmentosa-like dermatitis) in three Devon Rex cats. ( 22736683 )
2012
26
Nevoid urticaria pigmentosa along Blaschko's line. ( 22221017 )
2012
27
Gastroesophageal reflux disease accompanying urticaria pigmentosa. ( 22185927 )
2011
28
Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis. ( 21689725 )
2011
29
Cutaneous mastocytosis in twins: multiple mastocytomas and urticaria pigmentosa in two pairs of monozygotic twins. ( 21385209 )
2011
30
Urticaria pigmentosa after treatment with TNF antagonists: a case report. ( 22184778 )
2011
31
Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. ( 19865100 )
2010
32
Megalocornea-urticaria pigmentosa syndrome--a new syndrome? ( 19706342 )
2009
33
Urticaria pigmentosa associated with acute stress and lesional skin mast-cell expression of CRF-R1. ( 19094125 )
2009
34
Generalized brownish macules in infancy. Urticaria pigmentosa. ( 19873965 )
2009
35
Frequent TET2 mutations in systemic mastocytosis: clinical, KITD816V and FIP1L1-PDGFRA correlates. ( 19262599 )
2009
36
[Urticaria pigmentosa: a current approach]. ( 19768974 )
2009
37
Combined Mastocytoma-hemangioma in a Patient with Urticaria Pigmentosa. ( 27303182 )
2008
38
CD25 expression on cutaneous mast cells from adult patients presenting with urticaria pigmentosa is predictive of systemic mastocytosis. ( 18162781 )
2008
39
What is your diagnosis? Cutaneous mastocytosis (urticaria pigmentosa). ( 18543588 )
2008
40
Picture of the month. Urticaria pigmentosa. ( 18391148 )
2008
41
Urticaria pigmentosa. A case report. ( 18709295 )
2008
42
Mastocytosis with urticaria pigmentosa and osteoporosis. ( 19061601 )
2008
43
Unusual cutaneous findings of urticaria pigmentosa and telangiectasia macularis eruptiva perstans associated with marked myelofibrosis. ( 17040445 )
2006
44
Anesthetic management of a labouring parturient with urticaria pigmentosa. ( 16575037 )
2006
45
Urticaria pigmentosa and mastocytosis: the role of immunophenotyping in diagnosis and determining response to treatment. ( 16822380 )
2006
46
Nodular scabies mimicking urticaria pigmentosa in an infant. ( 16045712 )
2005
47
Intertriginous urticaria pigmentosa. ( 15604555 )
2005
48
The cosmetic treatment of urticaria pigmentosa with Nd:YAG laser at 532 nanometers. ( 17166203 )
2005
49
A germline mutation in KIT in familial diffuse cutaneous mastocytosis. ( 15173254 )
2004
50
Papular eosinophilic/mastocytic dermatitis (feline urticaria pigmentosa) in Devon Rex cats: A distinct disease entity or a histopathological reaction pattern? ( 15305933 )
2004
Sources

Variations for Mastocytosis, Cutaneous

About this section

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

76
# 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

ClinVar genetic disease variations for Mastocytosis, Cutaneous:

6 (show top 50) (show all 97)
# Gene Variation Type Significance SNP ID Assembly Location
1 KIT NM_000222.2(KIT): c.2447A> T (p.Asp816Val) single nucleotide variant Uncertain significance rs121913507 GRCh37 Chromosome 4, 55599321: 55599321
2 KIT NM_000222.2(KIT): c.2447A> T (p.Asp816Val) single nucleotide variant Uncertain significance rs121913507 GRCh38 Chromosome 4, 54733155: 54733155
3 KIT NM_000222.2(KIT): c.2459A> G (p.Asp820Gly) single nucleotide variant Pathogenic rs121913682 GRCh37 Chromosome 4, 55599333: 55599333
4 KIT NM_000222.2(KIT): c.2459A> G (p.Asp820Gly) single nucleotide variant Pathogenic rs121913682 GRCh38 Chromosome 4, 54733167: 54733167
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.1553C> T (p.Pro518Leu) single nucleotide variant Uncertain significance rs569408054 GRCh38 Chromosome 4, 54727230: 54727230
22 KIT NM_000222.2(KIT): c.1553C> T (p.Pro518Leu) single nucleotide variant Uncertain significance rs569408054 GRCh37 Chromosome 4, 55593396: 55593396
23 KIT NM_000222.2(KIT): c.2670C> T (p.Leu890=) single nucleotide variant Conflicting interpretations of pathogenicity rs745967881 GRCh38 Chromosome 4, 54736794: 54736794
24 KIT NM_000222.2(KIT): c.2670C> T (p.Leu890=) single nucleotide variant Conflicting interpretations of pathogenicity rs745967881 GRCh37 Chromosome 4, 55602960: 55602960
25 KIT NM_000222.2(KIT): c.2802+9A> G single nucleotide variant Conflicting interpretations of pathogenicity rs369450271 GRCh38 Chromosome 4, 54737289: 54737289
26 KIT NM_000222.2(KIT): c.2802+9A> G single nucleotide variant Conflicting interpretations of pathogenicity rs369450271 GRCh37 Chromosome 4, 55603455: 55603455
27 KIT NM_000222.2(KIT): c.2881G> A (p.Gly961Ser) single nucleotide variant Uncertain significance rs773828910 GRCh38 Chromosome 4, 54738507: 54738507
28 KIT NM_000222.2(KIT): c.2881G> A (p.Gly961Ser) single nucleotide variant Uncertain significance rs773828910 GRCh37 Chromosome 4, 55604673: 55604673
29 KIT NM_000222.2(KIT): c.-14T> A single nucleotide variant Conflicting interpretations of pathogenicity rs140909964 GRCh38 Chromosome 4, 54658001: 54658001
30 KIT NM_000222.2(KIT): c.-14T> A single nucleotide variant Conflicting interpretations of pathogenicity rs140909964 GRCh37 Chromosome 4, 55524168: 55524168
31 KIT NM_000222.2(KIT): c.1638A> G (p.Lys546=) single nucleotide variant Benign/Likely benign rs55986963 GRCh38 Chromosome 4, 54727315: 54727315
32 KIT NM_000222.2(KIT): c.1638A> G (p.Lys546=) single nucleotide variant Benign/Likely benign rs55986963 GRCh37 Chromosome 4, 55593481: 55593481
33 KIT NM_000222.2(KIT): c.2394C> T (p.Ile798=) single nucleotide variant Benign/Likely benign rs55789615 GRCh38 Chromosome 4, 54733102: 54733102
34 KIT NM_000222.2(KIT): c.2394C> T (p.Ile798=) single nucleotide variant Benign/Likely benign rs55789615 GRCh37 Chromosome 4, 55599268: 55599268
35 KIT NM_000222.2(KIT): c.2586G> C (p.Leu862=) single nucleotide variant Benign/Likely benign rs3733542 GRCh38 Chromosome 4, 54736599: 54736599
36 KIT NM_000222.2(KIT): c.2586G> C (p.Leu862=) single nucleotide variant Benign/Likely benign rs3733542 GRCh37 Chromosome 4, 55602765: 55602765
37 KIT NM_000222.2(KIT): c.2847C> T (p.Pro949=) single nucleotide variant Benign/Likely benign rs56288823 GRCh38 Chromosome 4, 54738473: 54738473
38 KIT NM_000222.2(KIT): c.2847C> T (p.Pro949=) single nucleotide variant Benign/Likely benign rs56288823 GRCh37 Chromosome 4, 55604639: 55604639
39 KIT NM_000222.2(KIT): c.2923G> C (p.Asp975His) single nucleotide variant Uncertain significance rs373152714 GRCh38 Chromosome 4, 54738549: 54738549
40 KIT NM_000222.2(KIT): c.2923G> C (p.Asp975His) single nucleotide variant Uncertain significance rs373152714 GRCh37 Chromosome 4, 55604715: 55604715
41 KIT NM_000222.2(KIT): c.*368C> T single nucleotide variant Uncertain significance rs886059465 GRCh38 Chromosome 4, 54738925: 54738925
42 KIT NM_000222.2(KIT): c.*368C> T single nucleotide variant Uncertain significance rs886059465 GRCh37 Chromosome 4, 55605091: 55605091
43 KIT NM_000222.2(KIT): c.*597C> T single nucleotide variant Uncertain significance rs746982052 GRCh38 Chromosome 4, 54739154: 54739154
44 KIT NM_000222.2(KIT): c.*597C> T single nucleotide variant Uncertain significance rs746982052 GRCh37 Chromosome 4, 55605320: 55605320
45 KIT NM_000222.2(KIT): c.*1059C> T single nucleotide variant Uncertain significance rs886059467 GRCh38 Chromosome 4, 54739616: 54739616
46 KIT NM_000222.2(KIT): c.*1059C> T single nucleotide variant Uncertain significance rs886059467 GRCh37 Chromosome 4, 55605782: 55605782
47 KIT NM_000222.2(KIT): c.*1101A> G single nucleotide variant Uncertain significance rs886059468 GRCh38 Chromosome 4, 54739658: 54739658
48 KIT NM_000222.2(KIT): c.*1101A> G single nucleotide variant Uncertain significance rs886059468 GRCh37 Chromosome 4, 55605824: 55605824
49 KIT NM_000222.2(KIT): c.*1704G> T single nucleotide variant Likely benign rs8022 GRCh38 Chromosome 4, 54740261: 54740261
50 KIT NM_000222.2(KIT): c.*1704G> T single nucleotide variant Likely benign rs8022 GRCh37 Chromosome 4, 55606427: 55606427
Sources

Expression for Mastocytosis, Cutaneous

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

Pathways for Mastocytosis, Cutaneous

About this section

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

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Akt Signaling 65
Show member pathways
 13.04 CD2 IL3 KIT KITLG NTRK3
2
PAK Pathway 65
Show member pathways
 12.94 CD2 IL3 KIT KITLG NTRK3
3
Phospholipase-C Pathway 65
Show member pathways
 12.73 IL3 KIT KITLG NTRK3
4
p70S6K Signaling 65
Show member pathways
 12.71 IL3 KIT KITLG NTRK3
5
NF-kappaB Signaling 4
12.14 CD2 IL3 KIT KITLG
6
G-protein signaling RAC1 in cellular process 23
Show member pathways
 12.03 IL3 KIT KITLG NTRK3
7
Immune response IFN alpha/beta signaling pathway 23
Show member pathways
 11.88 IL3 KIT KITLG NTRK3
8
Kit receptor signaling pathway 1
Show member pathways
 11.84 IL3 KIT KITLG
9
G-protein signaling_RhoA regulation pathway 23
11.42 IL3 KITLG NTRK3
10
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 66
11.32 CD2 IL3 KIT KITLG
11
Hematopoietic Stem Cell Differentiation 1
11.23 IL3 KITLG
12
Melanocyte Development and Pigmentation 65
11.12 KIT KITLG
13
Differentiation Pathway 1
11.01 IL3 KIT KITLG
14
Hematopoietic cell lineage 38
10.91 CD2 IL3 KIT KITLG
15
Regulation of KIT signaling 67
10.61 KIT KITLG
16
G-protein signaling_Rap2B regulation pathway 23
10.56 CD2 IL3 KIT KITLG NTRK3
Sources

GO Terms for Mastocytosis, Cutaneous

About this section

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.43 CMA1 CTSG IL3 KIT KITLG SERPINB6
2 collagen-containing extracellular matrix GO:0062023 9.33 CMA1 CTSG SERPINB6
3 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 9.67 IL3 KIT KITLG NTRK3
2 MAPK cascade GO:0000165 9.58 IL3 KIT KITLG
3 ovarian follicle development GO:0001541 9.46 KIT KITLG
4 pigmentation GO:0043473 9.43 ATP7A KIT
5 peptidyl-tyrosine phosphorylation GO:0018108 9.32 KIT NTRK3
6 positive regulation of phospholipase C activity GO:0010863 9.26 KIT NTRK3
7 angiotensin maturation GO:0002003 9.16 CMA1 CTSG
8 ectopic germ cell programmed cell death GO:0035234 8.96 KIT KITLG
9 embryonic hemopoiesis GO:0035162 8.8 IL3 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 protein tyrosine kinase activity GO:0004713 8.62 KIT NTRK3
Sources

Sources for Mastocytosis, Cutaneous

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....