DCM
MCID: DFF001
MIFTS: 43

Diffuse Cutaneous Mastocytosis (DCM) malady

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

Aliases & Classifications for Diffuse Cutaneous Mastocytosis

Aliases & Descriptions for Diffuse Cutaneous Mastocytosis:

Name: Diffuse Cutaneous Mastocytosis 12 50 56 14
Diffuse Cutaneous Maculopapulous Mastocytosis 50 56
Dcm 50 56
Mastocytosis, Diffuse Cutaneous 69

Characteristics:

Orphanet epidemiological data:

56
diffuse cutaneous mastocytosis
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

Classifications:



External Ids:

Disease Ontology 12 DOID:3665
MeSH 42 D034701
NCIt 47 C3218
SNOMED-CT 64 703826004
Orphanet 56 ORPHA79456
UMLS via Orphanet 70 C0024901
ICD10 via Orphanet 34 Q82.2
UMLS 69 C0024901

Summaries for Diffuse Cutaneous Mastocytosis

MalaCards based summary : Diffuse Cutaneous Mastocytosis, also known as diffuse cutaneous maculopapulous mastocytosis, is related to pseudoxanthomatous diffuse cutaneous mastocytosis and bullous diffuse cutaneous mastocytosis, and has symptoms including pruritus, hypotension and hepatomegaly. An important gene associated with Diffuse Cutaneous Mastocytosis is KIT (KIT Proto-Oncogene Receptor Tyrosine Kinase), and among its related pathways/superpathways are NF-kappaB Signaling and Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs alemtuzumab and Cyclosporine have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and bone marrow, and related phenotypes are integument and no phenotypic analysis

Related Diseases for Diffuse Cutaneous Mastocytosis

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

(show all 49)
id Related Disease Score Top Affiliating Genes
1 pseudoxanthomatous diffuse cutaneous mastocytosis 12.1
2 bullous diffuse cutaneous mastocytosis 12.1
3 dilated cardiomyopathy 11.9
4 cutaneous mastocytosis 11.5
5 mastocytosis 10.5
6 olfactory nerve disease 10.2 KIT SLC27A4
7 hypoglossal nerve disease 10.2 KIT OSMR
8 rectum leiomyoma 10.1 KIT PTPRC
9 fallopian tube leiomyoma 10.1 KIT PTPRC
10 endodermal sinus tumor 10.1 KIT PTPRC
11 neurofibromatosis 10.1 KIT PTPRC
12 neurofibroma of gallbladder 10.1 CD34 KIT
13 gallbladder leiomyosarcoma 10.1 CD34 KIT
14 speech disorder 10.1 CD34 KIT
15 leiomyomatosis 10.1 CD34 KIT
16 testis sarcoma 10.1 CD34 KIT
17 gastric leiomyosarcoma 10.1 CD34 KIT
18 prostate leiomyosarcoma 10.1 CD34 KIT
19 uterus leiomyosarcoma 10.1 CD34 KIT
20 skin angiosarcoma 10.0 CD34 KIT
21 colon signet ring adenocarcinoma 10.0 CD34 KIT
22 jejunal somatostatinoma 10.0 CD34 KIT
23 alcohol-induced mental disorder 10.0 CD34 KIT
24 microsporidiosis 10.0 CD34 KIT
25 hormone producing pituitary cancer 10.0 CD34 KIT
26 pulmonary immaturity 10.0 KIT PTPRC
27 fibrosarcoma 10.0 CD34 KIT
28 lice infestation 10.0 CD34 KIT
29 brown-vialetto-van laere syndrome 10.0 KIT PTPRC
30 pharynx cancer 10.0 CD34 KIT
31 mitral valve stenosis 10.0 CD34 KIT
32 mediastinum sarcoma 9.9 CD34 KIT
33 heel spur 9.9 CD34 PTPRC
34 laryngeal adenoid cystic carcinoma 9.9 CD34 PTPRC
35 geniculate herpes zoster 9.9 CD34 PTPRC
36 bone leiomyosarcoma 9.9 CD34 PTPRC
37 hodgkin's lymphoma, lymphocytic depletion 9.9 CD34 PTPRC
38 gestational choriocarcinoma 9.9 CD34 KIT
39 neuromuscular disease 9.9 CD34 PTPRC
40 endocrine organ benign neoplasm 9.9 CD34 KIT
41 freemartinism 9.8 CD34 KIT PTPRC
42 choriocarcinoma of ovary 9.8 CD34 KIT PTPRC
43 cerebral arterial disease 9.8 CD34 KIT PTPRC
44 acute dacryoadenitis 9.8 CD34 KIT
45 erythema multiforme 9.7
46 ichthyosis 9.7
47 epidermolysis bullosa 9.7
48 cutaneous mastocytoma 9.7
49 rhabdoid cancer 8.9 ATP7A CD34 KIT OSMR PTPRC SERPINB6

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



Diseases related to Diffuse Cutaneous Mastocytosis

Symptoms & Phenotypes for Diffuse Cutaneous Mastocytosis

Human phenotypes related to Diffuse Cutaneous Mastocytosis:

56 32 (show all 13)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 56 32 Frequent (79-30%) HP:0000989
2 hypotension 56 32 Frequent (79-30%) HP:0002615
3 hepatomegaly 56 32 Occasional (29-5%) HP:0002240
4 malabsorption 56 32 Occasional (29-5%) HP:0002024
5 abnormal blistering of the skin 56 32 Very frequent (99-80%) HP:0008066
6 gastrointestinal hemorrhage 56 32 Occasional (29-5%) HP:0002239
7 thickened skin 56 32 Frequent (79-30%) HP:0001072
8 urticaria 56 32 Frequent (79-30%) HP:0001025
9 abnormality of skin pigmentation 56 32 Frequent (79-30%) HP:0001000
10 erythroderma 56 32 Very frequent (99-80%) HP:0001019
11 leukemia 56 32 Occasional (29-5%) HP:0001909
12 cutaneous mastocytosis 56 32 Very frequent (99-80%) HP:0200151
13 anaphylactic shock 56 32 Occasional (29-5%) HP:0100845

UMLS symptoms related to Diffuse Cutaneous Mastocytosis:


macule

MGI Mouse Phenotypes related to Diffuse Cutaneous Mastocytosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.35 ATP7A CD34 KIT OSMR SLC27A4
2 no phenotypic analysis MP:0003012 9.02 KIT OSMR PTPRC SERPINB6 SLC27A4

Drugs & Therapeutics for Diffuse Cutaneous Mastocytosis

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

(show all 42)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 2 216503-57-0
2
Cyclosporine Approved, Investigational, Vet_approved Phase 2,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
3
Fludarabine Approved Phase 2,Phase 1 21679-14-1, 75607-67-9 30751
4
Miconazole Approved, Investigational, Vet_approved Phase 2,Phase 1 22916-47-8 4189
5
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
6
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
7
Vidarabine Approved Phase 2,Phase 1 24356-66-9 32326 21704
8
Busulfan Approved, Investigational Phase 2 55-98-1 2478
9
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
10
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
11 Anti-Bacterial Agents Phase 2,Phase 1
12 Antibiotics, Antitubercular Phase 2,Phase 1
13 Antibodies Phase 2
14 Antibodies, Monoclonal Phase 2
15 Antifungal Agents Phase 2,Phase 1
16 Anti-Infective Agents Phase 2,Phase 1
17 Antimetabolites Phase 2,Phase 1
18 Antimetabolites, Antineoplastic Phase 2,Phase 1
19 Antirheumatic Agents Phase 2,Phase 1
20 Antiviral Agents Phase 2,Phase 1
21 Calcineurin Inhibitors Phase 2,Phase 1
22 Dermatologic Agents Phase 2,Phase 1
23 Immunoglobulins Phase 2
24 Immunosuppressive Agents Phase 2,Phase 1
25 Vidarabine Phosphate Phase 2,Phase 1
26 Alkylating Agents Phase 2
27 Antineoplastic Agents, Alkylating Phase 2
28
Sunitinib Approved, Investigational Phase 1 341031-54-7, 557795-19-4 5329102
29 Angiogenesis Inhibitors Phase 1
30 Angiogenesis Modulating Agents Phase 1
31
Deferasirox Approved, Investigational 201530-41-8 5493381
32
Iron Approved 7439-89-6 23925
33
Foscarnet Approved 63585-09-1, 4428-95-9 3415
34
Ganciclovir Approved, Investigational 82410-32-0 3454
35
Valganciclovir Approved, Investigational 175865-60-8 64147
36
Phosphonoacetic Acid Experimental 4408-78-0 546
37 Chelating Agents
38 Iron Chelating Agents
39 Anti-Retroviral Agents
40 Ganciclovir triphosphate
41 Nucleic Acid Synthesis Inhibitors
42 Reverse Transcriptase Inhibitors

Interventional clinical trials:

(show all 12)
id Name Status NCT ID Phase
1 Alemtuzumab, Fludarabine Phosphate, and Total-Body Irradiation Followed by Cyclosporine and Mycophenolate Mofetil in Treating Patients Who Are Undergoing Donor Stem Cell Transplant for Hematologic Cancer Completed NCT00118352 Phase 2
2 A Two-Step Approach to Reduced Intensity Bone Marrow Transplant for Patients With Hematological Malignancies Recruiting NCT01384513 Phase 2
3 Fludarabine Phosphate, Low-Dose Total-Body Irradiation, and Donor Stem Cell Transplant Followed by Cyclosporine, Mycophenolate Mofetil, Donor Lymphocyte Infusion in Treating Patients With Hematopoietic Cancer Active, not recruiting NCT00006251 Phase 1, Phase 2
4 Sunitinib Malate in Treating HIV-Positive Patients With Cancer Receiving Antiretroviral Therapy Completed NCT00890747 Phase 1
5 MK2206 in Treating Younger Patients With Recurrent or Refractory Solid Tumors or Leukemia Completed NCT01231919 Phase 1
6 Fludarabine and Total-Body Irradiation Followed By Donor Stem Cell Transplant and Cyclosporine and Mycophenolate Mofetil in Treating HIV-Positive Patients With or Without Cancer Completed NCT00112593
7 Deferasirox in Treating Iron Overload Caused By Blood Transfusions in Patients With Hematologic Malignancies Completed NCT01273766
8 Infection Prophylaxis and Management in Treating Cytomegalovirus (CMV) Infection in Patients With Hematologic Malignancies Previously Treated With Donor Stem Cell Transplant Completed NCT01199562
9 Cutaneous Mastocytosis in Children: Analysis of Somatic and Germline Mutations Recruiting NCT02761473
10 Mast Cell Connect: A Registry for Patients With Mastocytosis Recruiting NCT02620254
11 Fludarabine Phosphate and Total-Body Radiation Followed by Donor Peripheral Blood Stem Cell Transplant and Immunosuppression in Treating Patients With Hematologic Malignancies Active, not recruiting NCT00014235
12 Massage Therapy Given by Caregiver in Treating Quality of Life of Young Patients Undergoing Treatment for Cancer Active, not recruiting NCT01053494

Search NIH Clinical Center for Diffuse Cutaneous Mastocytosis

Genetic Tests for Diffuse Cutaneous Mastocytosis

Anatomical Context for Diffuse Cutaneous Mastocytosis

MalaCards organs/tissues related to Diffuse Cutaneous Mastocytosis:

39
Skin, Bone, Bone Marrow, Monocytes

Publications for Diffuse Cutaneous Mastocytosis

Articles related to Diffuse Cutaneous Mastocytosis:

(show all 45)
id Title Authors Year
1
Granular IgM Deposition at Basement Membrane Zone in an Infant with Diffuse Cutaneous Mastocytosis. ( 27688466 )
2016
2
Routine Vaccinations in Diffuse Cutaneous Mastocytosis. ( 26772936 )
2016
3
Diffuse cutaneous mastocytosis with bullous lesions and pulmonary involvement: a rare case. ( 25814708 )
2015
4
Diffuse cutaneous mastocytosis, bullous variant, presenting in a six-month-old infant. ( 24811027 )
2014
5
Generalized bullous eruption after routine vaccination in a child with diffuse cutaneous mastocytosis. ( 24229828 )
2013
6
Diffuse cutaneous mastocytosis: a heterogeneous disease. ( 23606712 )
2013
7
Imatinib mesylate in the treatment of diffuse cutaneous mastocytosis. ( 23069194 )
2013
8
A new germline mutation in KIT associated with diffuse cutaneous mastocytosis in a Chinese family. ( 24289326 )
2013
9
Diffuse cutaneous mastocytosis: analysis of 10 cases and a brief review of the literature. ( 22092511 )
2012
10
Diffuse cutaneous mastocytosis: report of a severe case with fatal outcome. ( 21426873 )
2011
11
Oral and topical sodium cromoglicate in the treatment of diffuse cutaneous mastocytosis in an infant. ( 22693187 )
2011
12
Neonatal onset diffuse cutaneous mastocytosis: a case report and review of the literature. ( 20678092 )
2011
13
Diffuse cutaneous mastocytosis masquerading as epidermolysis bullosa. ( 21854415 )
2011
14
Diffuse cutaneous mastocytosis with generalized bullae. ( 20548889 )
2010
15
Diffuse cutaneous mastocytosis in fraternal twins. ( 19200195 )
2009
16
Clinical aspects of diffuse cutaneous mastocytosis in children: two variants. ( 19797893 )
2009
17
Diffuse cutaneous mastocytosis in a newborn calf. ( 18477335 )
2008
18
Diffuse cutaneous mastocytosis treated with psoralen photochemotherapy: case report and review of the literature. ( 15656827 )
2005
19
A germline mutation in KIT in familial diffuse cutaneous mastocytosis. ( 15173254 )
2004
20
Diffuse cutaneous mastocytosis: pseudoxanthomatous variant. ( 12126072 )
2002
21
Diffuse cutaneous mastocytosis with bone marrow infiltration in a child: a case report. ( 10886751 )
2000
22
Diffuse cutaneous mastocytosis with bullae or bullous mastocytosis: a question of semantics. ( 10627222 )
1999
23
Diffuse cutaneous mastocytosis responding to cyproheptadine. ( 10233642 )
1999
24
Ichthyosis congenita type IV: a new case resembling diffuse cutaneous mastocytosis. ( 9115920 )
1997
25
Diffuse cutaneous mastocytosis without systemic involvement : Response to topical augmented betamethasone dipropionate under plastic occlusion. ( 20944388 )
1997
26
Diffuse cutaneous mastocytosis. Treatment with oral psoralen plus UV-A. ( 8961869 )
1996
27
Diffuse cutaneous mastocytosis: a rare entity. ( 8415319 )
1993
28
Continuous release of secretory granule proteoglycans from a cell strain derived from the bone marrow of a patient with diffuse cutaneous mastocytosis. ( 1728305 )
1992
29
Establishment in culture and characterization of a strain with mast cell and monocytic properties from the bone marrow of a child with diffuse cutaneous mastocytosis. ( 2070067 )
1991
30
Diffuse cutaneous mastocytosis mimicking staphylococcal scalded-skin syndrome: report of three cases. ( 1923984 )
1991
31
The familial occurrence of bullous mastocytosis (diffuse cutaneous mastocytosis). ( 2241201 )
1990
32
Diffuse cutaneous mastocytosis, 22 years on. ( 2337526 )
1990
33
Photochemotherapy of dominant, diffuse, cutaneous mastocytosis. ( 2080117 )
1990
34
Diffuse cutaneous mastocytosis in a cat. ( 2238391 )
1990
35
Occurrence of platelet-activating factor (PAF) and an endogenous inhibitor of platelet aggregation in diffuse cutaneous mastocytosis. ( 2805409 )
1989
36
Bullous mastocytosis: diffuse cutaneous mastocytosis with extensive blisters mimicking scalded skin syndrome or erythema multiforme. ( 6387670 )
1984
37
Diffuse cutaneous mastocytosis with multiple cutaneous mastocytomas. Report of a case with clinical, histopathological and ultrastructural aspects. ( 6770887 )
1980
38
Diffuse cutaneous mastocytosis: a report of neonatal onset. ( 94218 )
1979
39
Clinico-athological study of a case of diffuse cutaneous mastocytosis. ( 753755 )
1977
40
Diffuse cutaneous mastocytosis in mother and daughter. ( 935150 )
1976
41
Atypical diffuse cutaneous mastocytosis. ( 5033745 )
1972
42
Diffuse cutaneous mastocytosis. ( 5548477 )
1971
43
Diffuse cutaneous mastocytosis. ( 5710058 )
1968
44
DIFFUSE CUTANEOUS MASTOCYTOSIS. ( 14046151 )
1963
45
Diffuse cutaneous mastocytosis. ( 13822837 )
1960

Variations for Diffuse Cutaneous Mastocytosis

Expression for Diffuse Cutaneous Mastocytosis

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

Pathways for Diffuse Cutaneous Mastocytosis

GO Terms for Diffuse Cutaneous Mastocytosis

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

id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.7 ATP7A CD34 KIT OSMR PTPRC SERPINB6
2 apical plasma membrane GO:0016324 9.43 ATP7A CD34 OSMR
3 microvillus GO:0005902 9.37 ATP7A SLC27A4
4 brush border membrane GO:0031526 9.32 ATP7A SLC27A4
5 external side of plasma membrane GO:0009897 9.13 CD34 KIT PTPRC
6 mast cell granule GO:0042629 8.62 KIT SRGN

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

id Name GO ID Score Top Affiliating Genes
1 hemopoiesis GO:0030097 9.26 CD34 KIT
2 skin development GO:0043588 9.16 ATP7A SLC27A4
3 pigmentation GO:0043473 8.96 ATP7A KIT
4 T cell differentiation GO:0030217 8.62 KIT PTPRC

Sources for Diffuse Cutaneous Mastocytosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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