MCID: DFF001
MIFTS: 41

Diffuse Cutaneous Mastocytosis

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

Aliases & Classifications for Diffuse Cutaneous Mastocytosis

MalaCards integrated aliases 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:



Summaries for Diffuse Cutaneous Mastocytosis

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on 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, abnormality of skin pigmentation and erythroderma. 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. 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 top 50) (show all 51)
id Related Disease Score Top Affiliating Genes
1 pseudoxanthomatous diffuse cutaneous mastocytosis 12.1
2 bullous diffuse cutaneous mastocytosis 12.1
3 dilated cardiomyopathy 11.8
4 cutaneous mastocytosis 11.5
5 3-methylglutaconic aciduria, type v 11.0
6 appendix leiomyoma 10.4 CD34 KIT
7 small intestine leiomyosarcoma 10.4 CD34 KIT
8 liver inflammatory pseudotumor 10.4 CD34 KIT
9 anus leiomyoma 10.4 CD34 KIT
10 hypoglossal nerve disease 10.4 KIT OSMR
11 malignant dermis tumor 10.4 CD34 KIT
12 gallbladder leiomyosarcoma 10.4 CD34 KIT
13 testis rhabdomyosarcoma 10.4 CD34 KIT
14 breast leiomyosarcoma 10.4 CD34 KIT
15 thyroid angiosarcoma 10.3 CD34 KIT
16 demyelinating disease 10.3 CD34 KIT
17 encephalitozoonosis 10.3 CD34 KIT
18 cutaneous liposarcoma 10.3 CD34 KIT
19 fibrosarcoma of bone 10.3 CD34 KIT
20 epithelioid cell synovial sarcoma 10.3 CD34 KIT
21 peritoneal benign neoplasm 10.3 CD34 KIT
22 mediastinum rhabdomyosarcoma 10.2 CD34 KIT
23 kidney hypertrophy 10.2 CD34 KIT
24 vestibular gland benign neoplasm 10.2 CD34 KIT
25 gestational choriocarcinoma 10.2 CD34 KIT
26 benign mammary dysplasia 10.1 CD34 KIT
27 thymus small cell carcinoma 10.0 KIT PTPRC
28 ovarian cystic teratoma 10.0 KIT PTPRC
29 brown-vialetto-van laere syndrome 10.0 CD34 KIT
30 cholesteatoma 10.0 KIT PTPRC
31 cutaneous solitary mastocytoma 9.9 ATP7A KIT SLC27A4
32 vestibule of mouth cancer 9.9 CD34 PTPRC
33 coronary aneurysm 9.9 CD34 PTPRC
34 salivary gland adenoid cystic carcinoma 9.9 CD34 PTPRC
35 heel spur 9.9 CD34 PTPRC
36 gum cancer 9.9 CD34 PTPRC
37 acneiform dermatitis 9.8 CD34 PTPRC
38 brachyolmia 9.8 KIT PTPRC
39 spindle cell sarcoma 9.8 KIT PTPRC
40 erythema multiforme 9.7
41 ichthyosis 9.7
42 epidermolysis bullosa 9.7
43 cutaneous mastocytoma 9.7
44 gallbladder cancer 9.7 CD34 KIT
45 filamentary keratitis 9.6 CD34 KIT PTPRC
46 fallopian tube squamous cell carcinoma 9.6 CD34 KIT PTPRC
47 brain stem infarction 9.6 CD34 KIT PTPRC
48 middle lobe syndrome 9.5 CD34 PTPRC
49 childhood cerebellar astrocytic neoplasm 9.4 CD34 PTPRC
50 cranioectodermal dysplasia 1 9.4 CD34 KIT PTPRC

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 14)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 56 32 frequent (33%) Frequent (79-30%) HP:0000989
2 abnormality of skin pigmentation 56 32 frequent (33%) Frequent (79-30%) HP:0001000
3 erythroderma 56 32 hallmark (90%) Very frequent (99-80%) HP:0001019
4 thickened skin 56 32 frequent (33%) Frequent (79-30%) HP:0001072
5 leukemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001909
6 malabsorption 56 32 occasional (7.5%) Occasional (29-5%) HP:0002024
7 gastrointestinal hemorrhage 56 32 occasional (7.5%) Occasional (29-5%) HP:0002239
8 hepatomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002240
9 hypotension 56 32 frequent (33%) Frequent (79-30%) HP:0002615
10 abnormal blistering of the skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0008066
11 anaphylactic shock 56 32 occasional (7.5%) Occasional (29-5%) HP:0100845
12 cutaneous mastocytosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0200151
13 urticaria 56 Frequent (79-30%)
14 dermatographic urticaria 32 frequent (33%) HP:0011971

UMLS symptoms related to Diffuse Cutaneous Mastocytosis:


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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 PTPRC SERPINB6 SLC27A4 KIT OSMR

Drugs & Therapeutics for Diffuse Cutaneous Mastocytosis

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Cutaneous Mastocytosis in Children: Analysis of Somatic and Germline Mutations Recruiting NCT02761473
2 Mast Cell Connect: A Registry for Patients With Mastocytosis Recruiting NCT02620254

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
Oral and topical sodium cromoglicate in the treatment of diffuse cutaneous mastocytosis in an infant. ( 22693187 )
2011
11
Neonatal onset diffuse cutaneous mastocytosis: a case report and review of the literature. ( 20678092 )
2011
12
Diffuse cutaneous mastocytosis: report of a severe case with fatal outcome. ( 21426873 )
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
Diffuse cutaneous mastocytosis mimicking staphylococcal scalded-skin syndrome: report of three cases. ( 1923984 )
1991
30
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
31
Photochemotherapy of dominant, diffuse, cutaneous mastocytosis. ( 2080117 )
1990
32
Diffuse cutaneous mastocytosis in a cat. ( 2238391 )
1990
33
Diffuse cutaneous mastocytosis, 22 years on. ( 2337526 )
1990
34
The familial occurrence of bullous mastocytosis (diffuse cutaneous mastocytosis). ( 2241201 )
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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