MASTC
MCID: MST024
MIFTS: 64

Mastocytosis, Cutaneous (MASTC)

Categories: Blood diseases, Cancer diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases

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:



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...

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:



Diseases related to Mastocytosis, Cutaneous

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

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
2
Nolvadex 18 49 TAMOXIFEN CITRATE AstraZeneca October 1998
3
Perjeta 18 49 PERTUZUMAB Genentech June 2012
4
Picato gel 18 INGENOL MEBUTATE LEO Pharma January 2012
5
Xofigo 18 49 RADIUM RA-223 DICHLORIDE Bayer Healthcare Pharmaceuticals May 2013
6
Yervoy 18 49 IPILIMUMAB Bristol-Myers Squibb March 2011
7
Zuplenz 18 ONDANSETRON Strativa Pharmaceuticals July 2010

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

Genetic Tests for Mastocytosis, Cutaneous

Genetic tests related to Mastocytosis, Cutaneous:

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

Anatomical Context for Mastocytosis, Cutaneous

MalaCards organs/tissues related to Mastocytosis, Cutaneous:

41
Skin, Bone, Liver, Spleen, Bone Marrow, Lung, Kidney

Publications for Mastocytosis, Cutaneous

Articles related to Mastocytosis, Cutaneous:

(show top 50) (show all 392)
# Title Authors Year
1
Urticaria Pigmentosa (Cutaneous Mastocytosis) ( 29494109 )
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 )
2018
4
Darier's sign in urticaria pigmentosa-significance of perivascular eosinophilic infiltration. ( 30007512 )
2018
5
Longitudinal Study of Pediatric Urticaria Pigmentosa. ( 28133781 )
2017
6
Testicular Cancer in Monozygotic Twin Brothers with Urticaria Pigmentosa. ( 29230478 )
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 )
2015
11
Urticaria pigmentosa-like disease in a dog. ( 25750443 )
2015
12
Urticaria pigmentosa masquerading as non-accidental injury. ( 25784750 )
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 )
2014
16
Telangiectasia macularis eruptiva perstans or highly vascularized urticaria pigmentosa? ( 25439382 )
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
Response of urticaria pigmentosa to cladribine in a patient with systemic mastocytosis. ( 23205635 )
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 )
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 )
2011
28
Cutaneous mastocytosis in twins: multiple mastocytomas and urticaria pigmentosa in two pairs of monozygotic twins. ( 21385209 )
2011
29
Gastroesophageal reflux disease accompanying urticaria pigmentosa. ( 22185927 )
2011
30
Megalocornea-urticaria pigmentosa syndrome--a new syndrome? ( 19706342 )
2009
31
[Urticaria pigmentosa: a current approach]. ( 19768974 )
2009
32
Generalized brownish macules in infancy. Urticaria pigmentosa. ( 19873965 )
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 )
2008
35
CD25 expression on cutaneous mast cells from adult patients presenting with urticaria pigmentosa is predictive of systemic mastocytosis. ( 18162781 )
2008
36
Mastocytosis with urticaria pigmentosa and osteoporosis. ( 19061601 )
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 )
2008
40
Unusual cutaneous findings of urticaria pigmentosa and telangiectasia macularis eruptiva perstans associated with marked myelofibrosis. ( 17040445 )
2006
41
Urticaria pigmentosa and mastocytosis: the role of immunophenotyping in diagnosis and determining response to treatment. ( 16822380 )
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 )
2005
44
Intertriginous urticaria pigmentosa. ( 15604555 )
2005
45
Nodular scabies mimicking urticaria pigmentosa in an infant. ( 16045712 )
2005
46
Urticaria pigmentosa. ( 15120152 )
2004
47
Localized urticaria pigmentosa triggered by mesotherapy. ( 15539904 )
2004
48
Papular eosinophilic/mastocytic dermatitis (feline urticaria pigmentosa) in Devon Rex cats: A distinct disease entity or a histopathological reaction pattern? ( 15305933 )
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 )
2003
50
Familial urticaria pigmentosa associated with thrombocytosis as the initial symptom of systemic mastocytosis and Down's syndrome. ( 14761147 )
2003

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

Expression for Mastocytosis, Cutaneous

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

Pathways for Mastocytosis, Cutaneous

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 for Mastocytosis, Cutaneous

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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