MASTC
MCID: MST024
MIFTS: 65

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 74 44
Urticaria Pigmentosa 57 12 75 53 59 74 55 44 15
Cutaneous Mastocytosis 12 53 59 6 15 17
Diffuse Cutaneous Mastocytosis 12 53 59 15
Maculopapular Cutaneous Mastocytosis 53 59 17
Mast Cell Leukemia 74 29 6
Mast Cell Disease 74 13 40
Diffuse Cutaneous Maculopapulous Mastocytosis 53 59
Mastocytosis, Maculopapular Cutaneous 57 74
Mastocytosis, Diffuse Cutaneous 57 74
Mastocytosis, Systemic, Somatic 57 6
Mastocytoma 53 55
Mastc 57 74
Dcm 53 59
Mastocytosis with Associated Hematologic Disorder 74
Mastocytosis, Systemic 74
Mastocytosis, Indolent 74
Mast-Cell Disease 74
Mastocytosis 59
Up/mpcm 12
Mastsys 74
Cm 12

Characteristics:

Orphanet epidemiological data:

59
cutaneous mastocytosis
Inheritance: Not applicable; Age of onset: Childhood;
diffuse cutaneous mastocytosis
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;
mastocytosis
Prevalence: 1-9/100000 (Europe); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
mastocytosis, cutaneous:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:12309 DOID:3663 DOID:3665
OMIM 57 154800
SNOMED-CT 68 78745000
ICD10 33 D47.01
MESH via Orphanet 45 D008415 D014582 D034701
ICD10 via Orphanet 34 C96.2 D47.0 Q82.2
UMLS via Orphanet 73 C0024899 C0024901 C0042111 more
UMLS 72 C0024901 C0042111 C1136033

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 sm-ahnmd. An important gene associated with Mastocytosis, Cutaneous is KIT (KIT Proto-Oncogene, Receptor Tyrosine Kinase), and among its related pathways/superpathways are Innate Immune System and PI3K-Akt signaling pathway. The drugs Protein Kinase Inhibitors and Imatinib Mesylate have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and spleen, and related phenotypes are abnormal blistering of the skin and pruritus

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 : 74 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 : 75 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 1094)
# Related Disease Score Top Affiliating Genes
1 cutaneous solitary mastocytoma 33.1 KITLG KIT CMA1 CD2
2 sm-ahnmd 32.3 KIT FIP1L1 CD2
3 dowling-degos disease 1 31.0 KITLG KIT
4 mastocytosis 31.0 KITLG KIT IFNA2 FIP1L1 CD2
5 chronic eosinophilic leukemia 30.8 KIT FIP1L1
6 extracutaneous mastocytoma 30.5 KIT CD2
7 mast-cell leukemia 30.4 KITLG KIT ATP7A
8 hypereosinophilic syndrome 30.3 KIT IL3 FIP1L1
9 polycythemia vera 30.0 KITLG KIT IL3
10 neurofibroma 30.0 KITLG KIT
11 aggressive systemic mastocytosis 29.9 KITLG KIT IFNA2
12 hypereosinophilic syndrome, idiopathic 29.8 KIT IL3 FIP1L1
13 hematologic cancer 29.8 KITLG KIT IL3 CD2
14 piebald trait 29.7 KITLG KIT
15 myelofibrosis 29.7 KIT IL3 IFNA2
16 indolent systemic mastocytosis 29.7 KITLG KIT CD2
17 mast cell neoplasm 29.6 KITLG KIT CMA1 CD2
18 leukemia, chronic myeloid 29.2 KITLG KIT IL3 IFNA2
19 leukemia, acute myeloid 29.2 KITLG KIT IL3 CD2
20 acute promyelocytic leukemia 28.7 IL3 FIP1L1 CTSG
21 systemic mastocytosis 28.7 KITLG KIT IFNA2 FIP1L1 CD2
22 nodular urticaria pigmentosa 12.5
23 classic mast cell leukemia 12.4
24 cutaneous mastocytosis, conductive hearing loss and microtia 12.4
25 bullous diffuse cutaneous mastocytosis 12.4
26 mastocytosis cutaneous with short stature conductive hearing loss and microtia 12.3
27 systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease 12.3
28 plaque-form urticaria pigmentosa 12.3
29 typical urticaria pigmentosa 12.3
30 pseudoxanthomatous diffuse cutaneous mastocytosis 12.3
31 isolated bone marrow mastocytosis 12.3
32 smoldering systemic mastocytosis 12.3
33 capillary malformation-arteriovenous malformation 1 12.2
34 congenital myasthenic syndrome 12.2
35 lymphoadenopathic mastocytosis with eosinophilia 12.1
36 myasthenic syndrome, congenital, 6, presynaptic 11.9
37 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency 11.9
38 telangiectasia macularis eruptive perstans 11.9
39 myasthenic syndrome, congenital, 1a, slow-channel 11.8
40 myasthenic syndrome, congenital, 5 11.8
41 myasthenic syndrome, congenital, 10 11.8
42 myasthenic syndrome, congenital, 4a, slow-channel 11.8
43 myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency 11.8
44 chronic mountain sickness 11.7
45 mastocytic enterocolitis 11.7
46 gastrointestinal stromal tumor 11.6
47 megalencephaly-capillary malformation-polymicrogyria syndrome 11.6
48 congenital myasthenic syndrome with episodic apnea 11.6
49 chiari malformation 11.5
50 chiari malformation type ii 11.5

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



Diseases related to Mastocytosis, Cutaneous

Symptoms & Phenotypes for Mastocytosis, Cutaneous

Human phenotypes related to Mastocytosis, Cutaneous:

59 32 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal blistering of the skin 59 32 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%),Frequent (79-30%) HP:0008066
2 pruritus 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%),Very frequent (99-80%),Very frequent (99-80%) HP:0000989
3 hypermelanotic macule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001034
4 macule 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0012733
5 papule 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0200034
6 abnormality of skin pigmentation 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%),Very frequent (99-80%) HP:0001000
7 multiple cafe-au-lait spots 59 32 hallmark (90%) Very frequent (99-80%) HP:0007565
8 erythroderma 59 32 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0001019
9 skin plaque 59 32 hallmark (90%) Very frequent (99-80%) HP:0200035
10 cutaneous mastocytosis 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0200151
11 nausea and vomiting 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%),Frequent (79-30%) HP:0002017
12 hypotension 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%),Occasional (29-5%) HP:0002615
13 dyspnea 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002094
14 abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002027
15 thickened skin 59 32 frequent (33%) Frequent (79-30%) HP:0001072
16 headache 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0002315
17 diarrhea 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%),Frequent (79-30%) HP:0002014
18 cardiac arrest 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0001695
19 rhinitis 59 32 frequent (33%) Frequent (79-30%) HP:0012384
20 dermatographic urticaria 59 32 frequent (33%) Frequent (79-30%) HP:0011971
21 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
22 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001744
23 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0002240
24 malabsorption 59 32 occasional (7.5%) Occasional (29-5%) HP:0002024
25 fatigue 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0012378
26 osteoporosis 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000939
27 telangiectasia of the skin 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0100585
28 gastrointestinal hemorrhage 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%),Occasional (29-5%) HP:0002239
29 cough 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0012735
30 anxiety 59 32 occasional (7.5%) Occasional (29-5%) HP:0000739
31 alopecia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001596
32 sarcoma 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0100242
33 asthma 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002099
34 recurrent fractures 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0002757
35 leukemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001909
36 hypercalcemia 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0003072
37 increased bone mineral density 59 32 occasional (7.5%) Occasional (29-5%) HP:0011001
38 skin nodule 59 32 occasional (7.5%) Occasional (29-5%) HP:0200036
39 myeloproliferative disorder 59 32 occasional (7.5%) Occasional (29-5%) HP:0005547
40 anaphylactic shock 59 32 occasional (7.5%) Occasional (29-5%) HP:0100845
41 urticaria 59 32 Frequent (79-30%),Very frequent (99-80%) HP:0001025
42 respiratory insufficiency 59 Occasional (29-5%)
43 arrhythmia 59 Occasional (29-5%),Occasional (29-5%)
44 edema 32 HP:0000969
45 erythema 32 HP:0010783
46 anorexia 59 Occasional (29-5%)
47 acute leukemia 59 Occasional (29-5%)
48 chronic leukemia 59 Occasional (29-5%)
49 immunologic hypersensitivity 59 Occasional (29-5%),Occasional (29-5%)
50 mastocytosis 59 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

57
Skin:
cutaneous mastocytosis
telangiectasia macularis eruptiva perstans
urticaria pigmentosa
hyperpigmented macules or papules showing erythema or edema on trauma
bullous mastocytosis

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

Clinical features from OMIM:

154800

Drugs & Therapeutics for Mastocytosis, Cutaneous

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

(show top 50) (show all 127)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Protein Kinase Inhibitors Phase 4
2 Imatinib Mesylate Phase 4 220127-57-1 123596
3
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
4
Cladribine Approved, Investigational Phase 3 4291-63-8 20279
5
Omalizumab Approved, Investigational Phase 2, Phase 3 242138-07-4
6
Darbepoetin alfa Approved, Investigational Phase 3 11096-26-7, 209810-58-2
7
Denosumab Approved Phase 3 615258-40-7
8
Ginseng Approved, Investigational, Nutraceutical Phase 3 50647-08-0
9 Anesthetics, Intravenous Phase 3
10 Anesthetics Phase 3
11 Anesthetics, General Phase 3
12 Excitatory Amino Acid Antagonists Phase 3
13 Anesthetics, Dissociative Phase 3
14 Excitatory Amino Acids Phase 3
15 2-chloro-3'-deoxyadenosine Phase 3
16 Antidepressive Agents Phase 3
17 Histamine Antagonists Phase 3
18 Histamine H1 Antagonists Phase 3
19 Proton Pump Inhibitors Phase 3
20 Interferon-alpha Phase 3
21 Leukotriene Antagonists Phase 3
22 interferons Phase 3
23 Analgesics Phase 3
24 Peripheral Nervous System Agents Phase 3
25 Anti-Allergic Agents Phase 2, Phase 3
26 Central Nervous System Depressants Phase 3
27 Analgesics, Opioid Phase 3
28 Narcotics Phase 3
29 Hematinics Phase 3
30 Ferric Compounds Phase 3
31 ferric gluconate Phase 3
32 Iron Supplement Phase 3
33
midostaurin Approved, Investigational Phase 2 120685-11-2 104937 9829523
34
Denileukin diftitox Approved, Investigational Phase 2 173146-27-5
35
Bortezomib Approved, Investigational Phase 1, Phase 2 179324-69-7 93860 387447
36
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
37
Sirolimus Approved, Investigational Phase 2 53123-88-9 6436030 5284616 46835353
38
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
39
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
40
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
41
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
42
Levoleucovorin Approved, Investigational Phase 2 68538-85-2
43
Doxorubicin Approved, Investigational Phase 1, Phase 2 23214-92-8 31703
44
Secretin Approved Phase 1, Phase 2 108153-74-8
45
Racepinephrine Approved Phase 2 329-65-7 838
46
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
47
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
48
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
49
Busulfan Approved, Investigational Phase 2 55-98-1 2478
50
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866

Interventional clinical trials:

(show top 50) (show all 101)
# Name Status NCT ID Phase Drugs
1 Imatinib Mesylate Therapy in Systemic Mastocytosis Patients Lacking KIT Mutations Completed NCT01297777 Phase 4 Imatinib Mesylate
2 Subcutaneous Cladribine Plus Pegylated Interpheron Alfa-2a in Advanced Systemic Mastocytosis With D816V and Other Exon 17 KIT Mutations. Unknown status NCT01602939 Phase 2, Phase 3 Cladribine and pegylated interpheron alpha-2a
3 A Randomized Double-Blind Controlled Trial of Ketamine Versus Placebo in Conjunction With Best Pain Management in Neuropathic Pain in Cancer Patients Unknown status NCT01316744 Phase 3 ketamine hydrochloride
4 Randomized, Placebo-controlled, Phase 3 Study to Compare Efficacy and Safety of Masitinib at 6 mg/kg/Day to Placebo in Treatment of Patients With Smouldering Systemic, Indolent Systemic or Cutaneous Mastocytosis With Handicap Completed NCT00814073 Phase 3 Masitinib;Placebo
5 Study on Mastocytosis for Rupatadine Treatment An Exploratory Phase IV, Randomised, Double-blind, Placebo Controlled Crossover Study to Assess the Efficacy of 20 mg Rupatadine on the Treatment of Completed NCT01481909 Phase 2, Phase 3 Rupatadin
6 The Effect of Xolair ® (Omalizumab) in Mastocytosis Patients Prospective Double-blind, Placebo-controlled, Multicentre Study, XOLMA-Study Completed NCT01333293 Phase 2, Phase 3 injections
7 A Phase III, Randomized Study of the Effects of Parenteral Iron, Oral Iron, or No Iron Supplementation on the Erythropoietic Response to Darbepoetin Alfa for Cancer Patients With Chemotherapy-Associated Anemia Completed NCT00661999 Phase 3 sodium ferric gluconate complex in sucrose
8 Preparatory Aid to Improve Decision Making About Cancer Clinical Trials (PRE-ACT) Completed NCT00750009 Phase 3
9 The Use of American Ginseng (Panax Quinquefolius) to Improve Cancer-Related Fatigue: A Randomized, Double-Blind, Placebo-Controlled Phase III Study Completed NCT00719563 Phase 3 American ginseng
10 Phase III Randomized Trial of an Opioid Titration Order Sheet Compared to Standard of Care in Patients With Cancer Related Pain. Completed NCT00666211 Phase 3
11 Interest of Denosumab Treatment in Osteoporosis Associated to Systemic Mastocytosis Recruiting NCT03401060 Phase 3 Denosumab;Placebo
12 Phase II Single Arm Open Pilot Study to Demonstrate the Efficacy of Midostaurin in Symptom Improvement and Decrease of Mast Cell Burden in Patients With Indolent or Smoldering Systemic Mastocytosis. Unknown status NCT01920204 Phase 2 Midostaurin,
13 Multicenter, Open-Label, Single Arm Phase II Clinical Trial of Dasatinib in the Treatment of Systemic Mastocytosis Unknown status NCT00979160 Phase 2 Dasatinib
14 A Single Arm, Phase 2, Open-Label Study to Determine the Efficacy of Twice Daily Oral Dosing of PKC412 <Midostaurin> Administered to Patients With Aggressive Systemic Mastocytosis (ASM) and Mast Cell Leukemia (MCL) Completed NCT00233454 Phase 2 Midostaurin
15 Efficacy and Safety of TF002 in Cutaneous Mastocytosis Completed NCT00457288 Phase 2 TF 002
16 A Single Arm, Phase II, Open-Label Study to Determine the Efficacy of 100mg Twice Daily Oral Dosing of Midostaurin Administered to Patients With Aggressive Systemic Mastocytosis or Mast Cell Leukemia +/- an Associated Hematological Clonal Non-Mast Cell Lineage Disease Completed NCT00782067 Phase 2 Midostaurin (PKC412)
17 A Study of Brentuximab Vedotin (SGN-35) in CD30-Positive Systemic Mastocytosis With or Without an Associated Hematological Clonal Non-Mast Cell Lineage Disease (AHNMD) Completed NCT01807598 Phase 2 Brentuximab vedotin
18 ONTAK (Denileukin Diftitox) in Patients With Systemic Mastocytosis Completed NCT00493129 Phase 2 Ontak (Denileukin Diftitox)
19 Phase IIa, Open-label, Randomized Study of Oral AB1010 in Patients With Systemic Indolent Mastocytosis With Handicap and Not Bearing Activating Point Mutations in the Phosphotransferase Domain of c-Kit Such as the Main Mutation Asp-816-Val (D816V) Completed NCT00831974 Phase 2 masitinib (AB1010);masitinib (AB1010)
20 Phase II Study of Thalidomide in Mastocytosis Completed NCT00769587 Phase 2 thalidomide
21 Imatinib Mesylate in Patients With Various Types of Malignancies Involving Activated Tyrosine Kinase Enzymes Completed NCT00171912 Phase 2 imatinib mesylate
22 A Phase IA/II Multicenter, Dose-escalation Study of Oral AMN107 on a Continuous Daily Dosing Schedule in Adult Patients With Imatinib-resistant/Intolerant CML in Chronic or Accelerated Phase or Blast Crisis, Relapsed/Refractory Ph+ ALL, and Other Hematologic Malignancies. Completed NCT00109707 Phase 1, Phase 2 Nilotinib
23 Randomized, Double-blind, Placebo-controlled, Crossover Design, Efficacy and Safety Study With PA101 in Patients With Indolent Systemic Mastocytosis Completed NCT02478957 Phase 2 PA101;Placebo
24 A Phase II Clinical Trial of 17-(Allylamino)-17- Demethoxygeldanamycin (17-AAG, NSC 330507 and EPL Diluent, NSC 704057) in Adults With Systemic Mastocytosis Completed NCT00132015 Phase 2 tanespimycin
25 Low Intensity Preparative Regimen Followed by HLA-Matched, Mobilized Peripheral Blood Stem Cell Transplantation for Systemic Mastocytosis Completed NCT00006413 Phase 2
26 Evaluation of RAD001 as Therapy for Patients With Systemic Mastocytosis Completed NCT00449748 Phase 2 RAD001 (Everolimus)
27 Evaluation of the Efficacy of Sunitinib® in Patients With Recurrent Ovarian Clear Cell Carcinoma Completed NCT01824615 Phase 2 Sunitinib
28 A 12-week With Possible Extension, Prospective, Multicenter, Randomized, Open-label, 2-parallel Group, Phase IIa Study to Compare Efficacy and Safety of AB1010 at 3 or 6 mg/kg/Day in Treatment of Patients With Mastocytosis With Handicap and Bearing Activating Point Mutations in the Phosphotransferase Domain of c-Kit Such as the Main Mutation Asp-816-Val (D816V) Completed NCT01266369 Phase 2 masitinib
29 The Effectiveness of UVB Irradiation in the Treatment of Skin Conditions With Altered Dermal Matrix: An Open Pilot Study Completed NCT00129428 Phase 1, Phase 2
30 Unrelated Donor Hematopoietic Stem Cell Transplantation After Nonmyeloablative Conditioning For Patients With Hematological Malignancies Completed NCT00627666 Phase 2 busulfan;fludarabine phosphate;leucovorin calcium;methotrexate
31 Therapy of Myeloid Metaplasia-Myelofibrosis, Atypical Chronic Myeloid or Myelomonocytic Leukemia, C-Kit Positive Acute Myeloid Leukemia (AML) or High-Risk Myelodysplastic Syndrome (AML-MDS), Hypereosinophilic Syndrome, Polycythemia Vera, and Mastocytosis With Dasatinib (BMS-354825) Completed NCT00255346 Phase 2 Dasatinib (BMS-354825)
32 Donor NK Cell Infusion for Progression/Recurrence of Underlying Malignant Disorders After HLA-haploidentical HCT - a Phase 1-2 Study Completed NCT00823524 Phase 1, Phase 2
33 A Phase I Evaluation of the Combination of Pegylated Liposomal Doxorubicin (Doxil®) With PS-341 in Patients With Refractory Hematologic and Solid Malignancies Completed NCT00237627 Phase 1, Phase 2 PS-341;Doxil;Velcade
34 RC05CB A Pilot, Randomized Comparison of Standard Weekly Epoetin Alfa to Every-3-Week-Epoetin Alfa and Every 3-Week Darbepoetin Alfa Completed NCT00416624 Phase 2 darbepoetin alfa;epoetin alfa
35 Effect of Secretin on Gastric Accommodation, Emptying and Post-nutrient Challenge Symptoms in Functional Dyspepsia and Healthy Subjects Completed NCT03617861 Phase 1, Phase 2 Human Secretin;Placebo
36 Phase IIA Study of the Safety and Tolerability of the Use of Imatinib Mesylate (Gleevec) in the Treatment of Systemic Sclerosis Completed NCT00555581 Phase 2 Imatinib Mesylate
37 A Randomized Double-Blinded, Placebo-Controlled Study of Omalizumab for Idiopathic Anaphylaxis Completed NCT00890162 Phase 2 Epinephrine;Omalizumab (Xolair);Placebos
38 A Phase 2 Randomized Double-Blinded Placebo-Controlled Study to Evaluate the Safety and Efficacy of Subcutaneous Sarilumab in Improving the Quality of Life in Subjects With Indolent Systemic Mastocytosis Recruiting NCT03770273 Phase 2
39 An Open-label, Single Arm, Phase 2 Study to Evaluate Efficacy and Safety of Avapritinib (BLU-285), A Selective KIT Mutation-targeted Tyrosine Kinase Inhibitor, in Patients With Advanced Systemic Mastocytosis Recruiting NCT03580655 Phase 2 Avapritinib
40 A 3-Part, Randomized, Double-Blind, Placebo-Controlled Phase 2 Study to Evaluate Safety and Efficacy of Avapritinib (BLU-285), a Selective KIT Mutation-Targeted Tyrosine Kinase Inhibitor, in Indolent and Smoldering Systemic Mastocytosis With Symptoms Inadequately Controlled With Standard Therapy Recruiting NCT03731260 Phase 2 Avapritinib;Placebo
41 SL-401 in Patients With Advanced, High Risk Myeloproliferative Neoplasms (Systemic Mastocytosis, Advanced Symptomatic Primary Eosinophilic Disorder, Myelofibrosis, Chronic Myelomonocytic Leukemia) Recruiting NCT02268253 Phase 1, Phase 2 SL-401
42 Cromoglycate Adjunctive Therapy for Outpatients With Schizophrenia Recruiting NCT03794076 Phase 1, Phase 2 Cromoglycate;Placebo
43 A Two Step Approach to Reduced Intensity Allogeneic Hematopoietic Stem Cell Transplantation for Patients With Hematologic Malignancies Recruiting NCT01384513 Phase 2 Fludarabine;Busulfan;Cyclophosphamide (CY);Tacrolimus;Mycophenolate mofetil
44 CD16/IL-15/CD33 (161533) Tri-Specific Killer Engagers (TriKEs) for the Treatment of High Risk Myelodysplastic Syndromes, Refractory/Relapsed Acute Myeloid Leukemia and Advanced Systemic Mastocytosis Not yet recruiting NCT03214666 Phase 1, Phase 2 161533 Trike Phase I;161533 Trike Phase II
45 A Phase 2 Study to Evaluate the Anti-Tumor Activity of Single Agent Flotetuzumab in Advanced CD123-Positive Hematological Malignancies Not yet recruiting NCT03739606 Phase 2
46 A Phase 2 Study of Ibrutinib in Advanced Systemic Mastocytosis Terminated NCT02415608 Phase 2 Ibrutinib
47 Evaluation of Obatoclax Mesylate as Therapy for Patients With Systemic Mastocytosis Terminated NCT00918931 Phase 2 Obatoclax Mesylate
48 A Phase II Exploratory Study Evaluating the Efficacy of Topical Cromoglicate Solution Compared to Topical Solution Vehicle in the Treatment of Mastocytosis Terminated NCT01701843 Phase 2 Cromoglicate;Placebo
49 The Effectiveness of UVA1 and UVB Irradiation in the Treatment of Inflammatory Dermatoses: An Open Pilot Study Terminated NCT00129415 Phase 1, Phase 2
50 Multi-Center, Prospective, Randomized, Double-Blinded, Controlled Clinical Trial to Evaluate the Safety and Effectiveness of an Antimicrobial Catheter Lock Solution in Maintaining Catheter Patency and Preventing Catheter Related Blood Stream Infections (CRBSI) Withdrawn NCT01101412 Phase 1, Phase 2 Edetate Calcium Disodium;Ethanol;Trimethoprim-sulfamethoxazole

Search NIH Clinical Center for Mastocytosis, Cutaneous

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Cromoglicic acid

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

Anatomical Context for Mastocytosis, Cutaneous

MalaCards organs/tissues related to Mastocytosis, Cutaneous:

41
Skin, Bone, Spleen, Liver, Bone Marrow, Myeloid, Testes

Publications for Mastocytosis, Cutaneous

Articles related to Mastocytosis, Cutaneous:

(show top 50) (show all 922)
# Title Authors PMID Year
1
Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasm. 9 38 8 71
8589724 1996
2
Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis. 38 8 71
21689725 2011
3
Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder. 9 8 71
7479840 1995
4
Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. 8 71
19865100 2010
5
Frequent TET2 mutations in systemic mastocytosis: clinical, KITD816V and FIP1L1-PDGFRA correlates. 8 71
19262599 2009
6
A germline mutation in KIT in familial diffuse cutaneous mastocytosis. 8 71
15173254 2004
7
Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. 8 71
9990072 1999
8
Clinical correlates of the presence of the Asp816Val c-kit mutation in the peripheral blood mononuclear cells of patients with mastocytosis. 8 71
9827716 1998
9
A new c-kit mutation in a case of aggressive mast cell disease. 8 71
9029028 1997
10
Identification of mutations in the coding sequence of the proto-oncogene c-kit in a human mast cell leukemia cell line causing ligand-independent activation of c-kit product. 8 71
7691885 1993
11
Lack of c-kit mutation in familial urticaria pigmentosa. 9 38 8
10354021 1999
12
Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa. 38 71
11505412 2001
13
Concordant urticaria pigmentosa in a couple of identical twins. A five-year follow-up. 38 8
8651038 1995
14
Urticaria pigmentosa in monozygotic twins. 38 8
2221954 1990
15
Familial urticaria pigmentosa. 38 8
2383167 1990
16
Familial urticaria pigmentosa. 38 8
3455808 1986
17
Familial urticaria pigmentosa with giant mast cell granules. A clinical, light, and electron microscopic study. 38 8
7316532 1981
18
Urticaria pigmentosa in identical twins. 38 8
567043 1978
19
Genetic aspects of urticaria pigmentosa. 38 8
5636045 1968
20
Familial urticaria pigmentosa: report of a family and review of the role of KIT mutations. 38 6
22892471 2013
21
KIT masters mast cells in kids, too. 8
20145643 2010
22
A novel K509I mutation of KIT identified in familial mastocytosis-in vitro and in vivo responsiveness to imatinib therapy. 8
16183119 2006
23
c-kit Mutations in patients with childhood-onset mastocytosis and genotype-phenotype correlation. 8
15858149 2005
24
The Kit-activating mutation D816V enhances stem cell factor--dependent chemotaxis. 71
11493470 2001
25
Mutation analysis of C-KIT in patients with myelodysplastic syndromes without mastocytosis and cases of systemic mastocytosis. 71
11380399 2001
26
Isoforms of c-KIT differ in activation of signalling pathways and transformation of NIH3T3 fibroblasts. 8
10523834 1999
27
Familial mastocytosis: a clinical, immunophenotypic, light and electron microscopic study. 8
1836952 1991
28
The familial occurrence of bullous mastocytosis (diffuse cutaneous mastocytosis). 8
2241201 1990
29
[Familial mastocytosis. Presentation of 2 cases. General review. Nosologic importance]. 8
5124753 1971
30
Uniovular twins discordant for cutaneous mastocytosis. 8
4250565 1970
31
Mastocytosis. A clinical genetic evaluation. 8
5424687 1970
32
Mast cell disease. A cutaneous variant with multisystem involvement. 8
4235166 1968
33
Histiocyte-rich pleomorphic mastocytoma: an uncommon variant mimicking juvenile xanthogranuloma and Langerhans cell histiocytosis. 9 38
19602070 2009
34
Enhanced expression of SCF in the dermis is a prognostic factor for the regression of urticaria pigmentosa. 9 38
10586131 1999
35
Chronically KIT-stimulated clonally-derived human mast cells show heterogeneity in different tissue microenvironments. 9 38
9129234 1997
36
Expression of stem cell factor in cutaneous mastocytosis. 9 38
7547385 1995
37
Human dermal endothelial cells express membrane-associated mast cell growth factor. 9 38
7528242 1995
38
Urticaria pigmentosa in monochorionic twins. 38
31389368 2019
39
Aleukemic leukemia cutis mimicking urticaria pigmentosa in a patient of T-cell acute lymphoblastic leukemia. 38
31397398 2019
40
Cutaneous hyperpigmentation and familial gastrointestinal stromal tumour associated with KIT mutation. 38
30280421 2019
41
Feline maculopapular cutaneous mastocytosis: a retrospective study of 13 cases and proposal for a new classification. 38
29860905 2019
42
Pseudoxanthomatous or xanthelasmoid mastocytosis: Reporting a rare entity. 38
30785120 2019
43
Oral suplatast tosilate for the treatment of urticaria pigmentosa, skin lesion in mastocytosis. 38
30456758 2019
44
Urticaria pigmentosa-like skin disease in a domestic shorthair cat. 38
30671254 2019
45
Diagnosis and treatment of urticaria in primary care. 38
31180381 2019
46
[Aggressive malignant melanoma in a patient with urticaria pigmentosa]. 38
30264298 2018
47
Darier's sign in urticaria pigmentosa-significance of perivascular eosinophilic infiltration. 38
30007512 2018
48
Testicular Cancer in Monozygotic Twin Brothers with Urticaria Pigmentosa. 38
29230478 2018
49
Coexistence of urticaria pigmentosa and thalassemia minor in a young adult. 38
29785323 2018
50
Scabies Surrepticius: Scabies Masquerading as Pityriasis Rosea. 38
29492350 2017

Variations for Mastocytosis, Cutaneous

ClinVar genetic disease variations for Mastocytosis, Cutaneous:

6 (show all 49)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KIT NM_000222.2(KIT): c.2459A> G (p.Asp820Gly) single nucleotide variant Pathogenic rs121913682 4:55599333-55599333 4:54733167-54733167
2 KIT NM_000222.2(KIT): c.1598C> A (p.Ala533Asp) single nucleotide variant Pathogenic rs753212327 4:55593441-55593441 4:54727275-54727275
3 KIT KIT, ASN822ILE undetermined variant Pathogenic
4 KIT NM_000222.2(KIT): c.2515G> A (p.Glu839Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121913509 4:55602694-55602694 4:54736528-54736528
5 KIT NM_000222.2(KIT): c.1676T> C (p.Val559Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121913517 4:55593610-55593610 4:54727444-54727444
6 KIT NM_000222.2(KIT): c.2670C> T (p.Leu890=) single nucleotide variant Conflicting interpretations of pathogenicity rs745967881 4:55602960-55602960 4:54736794-54736794
7 KIT NM_000222.2(KIT): c.2802+9A> G single nucleotide variant Conflicting interpretations of pathogenicity rs369450271 4:55603455-55603455 4:54737289-54737289
8 KIT NM_000222.2(KIT): c.-14T> A single nucleotide variant Conflicting interpretations of pathogenicity rs140909964 4:55524168-55524168 4:54658001-54658001
9 KIT NM_000222.2(KIT): c.2881G> A (p.Gly961Ser) single nucleotide variant Uncertain significance rs773828910 4:55604673-55604673 4:54738507-54738507
10 KIT NM_000222.2(KIT): c.2447A> T (p.Asp816Val) single nucleotide variant Uncertain significance rs121913507 4:55599321-55599321 4:54733155-54733155
11 KIT NM_000222.2(KIT): c.200C> G (p.Thr67Ser) single nucleotide variant Uncertain significance rs144933028 4:55561810-55561810 4:54695644-54695644
12 KIT NM_000222.2(KIT): c.1274T> A (p.Met425Lys) single nucleotide variant Uncertain significance rs878853760 4:55589792-55589792 4:54723626-54723626
13 KIT NM_000222.2(KIT): c.1553C> T (p.Pro518Leu) single nucleotide variant Uncertain significance rs569408054 4:55593396-55593396 4:54727230-54727230
14 KIT NM_000222.2(KIT): c.2104C> G (p.Leu702Val) single nucleotide variant Uncertain significance rs768847037 4:55595614-55595614 4:54729448-54729448
15 KIT NM_000222.2(KIT): c.2294A> G (p.Asp765Gly) single nucleotide variant Uncertain significance rs1060502545 4:55598097-55598097 4:54731931-54731931
16 KIT NM_000222.2(KIT): c.1616T> C (p.Ile539Thr) single nucleotide variant Uncertain significance rs781371383 4:55593459-55593459 4:54727293-54727293
17 KIT NM_000222.2(KIT): c.2900C> G (p.Ser967Cys) single nucleotide variant Uncertain significance rs1232060384 4:55604692-55604692 4:54738526-54738526
18 KIT NM_000222.2(KIT): c.302A> G (p.His101Arg) single nucleotide variant Uncertain significance rs1274601103 4:55561912-55561912 4:54695746-54695746
19 KIT NM_000222.2(KIT): c.2057G> A (p.Arg686His) single nucleotide variant Uncertain significance rs143772138 4:55595567-55595567 4:54729401-54729401
20 KIT NM_000222.2(KIT): c.2923G> C (p.Asp975His) single nucleotide variant Uncertain significance rs373152714 4:55604715-55604715 4:54738549-54738549
21 KIT NM_000222.2(KIT): c.*368C> T single nucleotide variant Uncertain significance rs886059465 4:55605091-55605091 4:54738925-54738925
22 KIT NM_000222.2(KIT): c.*597C> T single nucleotide variant Uncertain significance rs746982052 4:55605320-55605320 4:54739154-54739154
23 KIT NM_000222.2(KIT): c.*1059C> T single nucleotide variant Uncertain significance rs886059467 4:55605782-55605782 4:54739616-54739616
24 KIT NM_000222.2(KIT): c.*1101A> G single nucleotide variant Uncertain significance rs886059468 4:55605824-55605824 4:54739658-54739658
25 KIT NM_000222.2(KIT): c.*252G> T single nucleotide variant Uncertain significance rs376694515 4:55604975-55604975 4:54738809-54738809
26 KIT NM_000222.2(KIT): c.*352A> G single nucleotide variant Uncertain significance rs149336515 4:55605075-55605075 4:54738909-54738909
27 KIT NM_000222.2(KIT): c.*1791G> A single nucleotide variant Uncertain significance rs77842054 4:55606514-55606514 4:54740348-54740348
28 KIT NM_000222.2(KIT): c.301C> T (p.His101Tyr) single nucleotide variant Uncertain significance rs781130745 4:55561911-55561911 4:54695745-54695745
29 KIT NM_000222.2(KIT): c.*198A> G single nucleotide variant Uncertain significance rs886059464 4:55604921-55604921 4:54738755-54738755
30 KIT NM_000222.2(KIT): c.*1086C> T single nucleotide variant Uncertain significance rs533152310 4:55605809-55605809 4:54739643-54739643
31 KIT NM_000222.2(KIT): c.*1487_*1490del deletion Uncertain significance rs374796688 4:55606210-55606213 4:54740044-54740047
32 KIT NM_000222.2(KIT): c.*1808A> G single nucleotide variant Uncertain significance rs762662037 4:55606531-55606531 4:54740365-54740365
33 KIT NM_000222.2(KIT): c.*393A> G single nucleotide variant Uncertain significance rs886059466 4:55605116-55605116 4:54738950-54738950
34 KIT NM_000222.2(KIT): c.*790A> G single nucleotide variant Uncertain significance rs189995563 4:55605513-55605513 4:54739347-54739347
35 KIT NM_000222.2(KIT): c.2836C> T (p.Arg946Ter) single nucleotide variant Uncertain significance 4:55604628-55604628 4:54738462-54738462
36 KIT NM_000222.2(KIT): c.2887A> G (p.Thr963Ala) single nucleotide variant Uncertain significance rs773709702 4:55604679-55604679 4:54738513-54738513
37 KIT NM_000222.2(KIT): c.2863G> T (p.Val955Leu) single nucleotide variant Uncertain significance rs1060502568 4:55604655-55604655 4:54738489-54738489
38 KIT NM_000222.2(KIT): c.*1524A> G single nucleotide variant Likely benign rs17084736 4:55606247-55606247 4:54740081-54740081
39 KIT NM_000222.2(KIT): c.*1241G> A single nucleotide variant Likely benign rs114377961 4:55605964-55605964 4:54739798-54739798
40 KIT NM_000222.2(KIT): c.*1704G> T single nucleotide variant Likely benign rs8022 4:55606427-55606427 4:54740261-54740261
41 KIT NM_000222.2(KIT): c.*149C> T single nucleotide variant Likely benign rs2213181 4:55604872-55604872 4:54738706-54738706
42 KIT NM_000222.2(KIT): c.2586G> C (p.Leu862=) single nucleotide variant Benign/Likely benign rs3733542 4:55602765-55602765 4:54736599-54736599
43 KIT NM_000222.2(KIT): c.2394C> T (p.Ile798=) single nucleotide variant Benign/Likely benign rs55789615 4:55599268-55599268 4:54733102-54733102
44 KIT NM_000222.2(KIT): c.1638A> G (p.Lys546=) single nucleotide variant Benign/Likely benign rs55986963 4:55593481-55593481 4:54727315-54727315
45 KIT NM_000222.2(KIT): c.1621A> C (p.Met541Leu) single nucleotide variant Benign/Likely benign rs3822214 4:55593464-55593464 4:54727298-54727298
46 KIT NM_000222.2(KIT): c.252G> T (p.Thr84=) single nucleotide variant Benign/Likely benign rs56411694 4:55561862-55561862 4:54695696-54695696
47 KIT NM_000222.2(KIT): c.1119C> T (p.Tyr373=) single nucleotide variant Benign/Likely benign rs72549293 4:55575593-55575593 4:54709427-54709427
48 KIT NM_000222.2(KIT): c.1794A> T (p.Gly598=) single nucleotide variant Benign/Likely benign rs72549292 4:55594008-55594008 4:54727842-54727842
49 KIT NM_000222.2(KIT): c.2847C> T (p.Pro949=) single nucleotide variant Benign/Likely benign rs56288823 4:55604639-55604639 4:54738473-54738473

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

74
# 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

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 extracellular region GO:0005576 9.73 SERPINB6 KITLG IL3 IFNA2 CTSG CMA1
2 secretory granule GO:0030141 9.33 CTSG CMA1 ATP7A
3 collagen-containing extracellular matrix GO:0062023 9.26 SERPINB6 IFNA2 CTSG CMA1
4 extracellular space GO:0005615 9.17 SERPINB6 KITLG KIT IL3 IFNA2 CTSG

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

# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.61 KIT IL3 IFNA2
2 MAPK cascade GO:0000165 9.5 KITLG KIT IL3
3 ovarian follicle development GO:0001541 9.4 KITLG KIT
4 pigmentation GO:0043473 9.37 KIT ATP7A
5 angiotensin maturation GO:0002003 9.26 CTSG CMA1
6 ectopic germ cell programmed cell death GO:0035234 9.16 KITLG KIT
7 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.13 KIT IL3 IFNA2
8 embryonic hemopoiesis GO:0035162 8.8 KITLG KIT IL3

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 8.8 KITLG IL3 IFNA2

Sources for Mastocytosis, Cutaneous

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