MCID: XNT009
MIFTS: 24

Xanthoma Disseminatum malady

Categories: Skin diseases, Rare diseases

Aliases & Classifications for Xanthoma Disseminatum

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Sources:
51Orphanet, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Xanthoma Disseminatum:

Name: Xanthoma Disseminatum 51 65
 
Montgomery Syndrome 51

Classifications:

Orphanet: 51 
Rare skin diseases


External Ids:

Orphanet51 158003
ICD10 via Orphanet28 D76.3
UMLS via Orphanet66 C0043322
UMLS65 C0043322

Summaries for Xanthoma Disseminatum

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Wikipedia:68 Xanthoma disseminatum (also known as \"Disseminated xanthosiderohistiocytosis\" and \"Montgomery... more...

MalaCards based summary: Xanthoma Disseminatum, also known as montgomery syndrome, is related to breast cancer and leukemia, and has symptoms including abnormality of the skin, osteolysis and abnormality of the oral cavity. An important gene associated with Xanthoma Disseminatum is F13A1 (Coagulation Factor XIII A Chain). Affiliated tissues include skin, bone and lung.

Related Diseases for Xanthoma Disseminatum

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Graphical network of the top 20 diseases related to Xanthoma Disseminatum:



Diseases related to xanthoma disseminatum

Symptoms for Xanthoma Disseminatum

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Symptoms:

 51
  • follicular/erythematous/edematous papules/milium
  • osteolysis/osteoclasia/bone destruction/erosions
  • enanthema/aphtosa/aphta/leukoplakia
  • diabetes insipidus

HPO human phenotypes related to Xanthoma Disseminatum:

id Description Frequency HPO Source Accession
1 abnormality of the skin hallmark (90%) HP:0000951
2 osteolysis hallmark (90%) HP:0002797
3 abnormality of the oral cavity typical (50%) HP:0000163
4 diabetes insipidus typical (50%) HP:0000873

Drugs & Therapeutics for Xanthoma Disseminatum

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Interventional clinical trials:

idNameStatusNCT IDPhase
1International Rare Histiocytic Disorders Registry (IRHDR)RecruitingNCT02285582

Search NIH Clinical Center for Xanthoma Disseminatum

Genetic Tests for Xanthoma Disseminatum

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Anatomical Context for Xanthoma Disseminatum

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MalaCards organs/tissues related to Xanthoma Disseminatum:

33
Skin, Bone, Lung, Liver, Breast, Neutrophil, B cells

Animal Models for Xanthoma Disseminatum or affiliated genes

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Publications for Xanthoma Disseminatum

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Articles related to Xanthoma Disseminatum:

(show top 50)    (show all 85)
idTitleAuthorsYear
1
UBTD1 induces cellular senescence through an UBTD1-Mdm2/p53 positive feedback loop. (25382750)
2015
2
Changes in corneal topography and biomechanical properties after collagen cross linking for keratoconus: 1-year results. (25949080)
2015
3
A case of systemic lupus erythematosus associated with longitudinal extensive transverse myelitis, cerebral neutrophilic vasculitis, and cerebritis. (25986355)
2014
4
Pulmonary hyalinizing granuloma associated with SjAPgren syndrome and ANCA MPO vasculitis. (25048101)
2014
5
Correlation of antibodies against desmogleins 1 and 3 with indirect immunofluorescence and disease status in a Greek population with pemphigus vulgaris. (22221266)
2013
6
A case of Brugada syndrome showing augmentation of electrocardiogram phenotype by complete right bundle branch block. (23851512)
2013
7
Cyclin d1 expression in odontogenic cysts. (23661346)
2013
8
Elucidation of molecular impediments in the I+6 subunit for in vitro expression of functional I+6I^4* nicotinic acetylcholine receptors. (24085295)
2013
9
Pregabalin versus SSRIs and SNRIs in benzodiazepine-refractory outpatients with generalized anxiety disorder: a post hoc cost-effectiveness analysis in usual medical practice in Spain. (22745564)
2012
10
TDP-43: a new player on the AD field? (22691390)
2012
11
Treatment for recurrent medulloblastoma with intrathecal liposomal cytarabine and systemic metronomic combination therapy. (22156796)
2012
12
Feline bartonellosis. (20933137)
2010
13
Polymorphisms in uracil-processing genes, but not one-carbon nutrients, are associated with altered DNA uracil concentrations in an urban Puerto Rican population. (19403629)
2009
14
Antitumor activity of small double-stranded oligodeoxynucleotides targeting telomerase RNA in malignant melanoma cells. (19441892)
2009
15
Mitochondrial alterations in PINK1 deficient cells are influenced by calcineurin-dependent dephosphorylation of dynamin-related protein 1. (19492085)
2009
16
Chemoselective capture of glycans for analysis on gold nanoparticles: carbohydrate oxime tautomers provide functional recognition by proteins. (19115306)
2009
17
Urinary fibronectin as a predictor of a residual tumour load after transurethral resection of bladder transitional cell carcinoma. (18410436)
2008
18
Testosterone and blood pressure regulation. (18319594)
2008
19
IL-21 mediated Foxp3 suppression leads to enhanced generation of antigen-specific CD8+ cytotoxic T lymphocytes. (17921346)
2008
20
Medium- and short-chain dehydrogenase/reductase gene and protein families : the MDR superfamily. (19011751)
2008
21
Understanding the predictive role of K-ras for epidermal growth factor receptor-targeted therapies in colorectal cancer. (19064407)
2008
22
SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies. (17206939)
2007
23
An estrogen receptor alpha-dependent regulation of estrogen receptor-related receptor alpha in the proliferation of endometrial carcinoma cells. (17010074)
2006
24
Clinically inapparent adrenal mass in a patient with familial adenomatous polyposis. (16865001)
2006
25
Factors that affect maternal insulin resistance and modify fetal growth and body composition. (18370755)
2006
26
High prevalence of congenital hypothyroidism in the Greek Cypriot population: results of the neonatal screening program 1990-2000. (15921174)
2005
27
Concanavalin A binding to HIV envelope protein is less sensitive to mutations in glycosylation sites than monoclonal antibody 2G12. (15917430)
2005
28
Mechanisms of glucose-induced secretion of pancreatic-derived factor (PANDER or FAM3B) in pancreatic beta-cells. (16249448)
2005
29
Amyloid fibril formation by the CAD domain of caspase-activated DNase. (15940676)
2005
30
PlA polymorphism of the glycoprotein IIIa and efficacy of reperfusion therapy in patients with acute myocardial infarction. (14691579)
2004
31
Large fontanelles are a shared feature of haploinsufficiency of RUNX2 and its co-activator CBFB. (15566413)
2004
32
Structure and regulation of the mDot1 gene, a mouse histone H3 methyltransferase. (14572310)
2004
33
Neuropharmacology of paroxetine. (14566196)
2003
34
Recognition of ADP-ribosylation factor 4-like by HLA-A2-restricted and tumor-reactive cytotoxic T lymphocytes from patients with brain tumors. (12472661)
2002
35
Congenital rubella: down but not out. (12241854)
2002
36
Interleukin-10, polymorphism in SLC11A1 (formerly NRAMP1), and susceptibility to tuberculosis. (12447767)
2002
37
Non-secreting atypical parathyroid adenoma. (11263467)
2001
38
Identification of chicken and C. elegans fibulin-1 homologs and characterization of the C. elegans fibulin-1 gene. (9923656)
1998
39
Enzymatic properties of the unnatural beta-L-enantiomers of 2',3'-dideoxyadenosine and 2',3'-didehydro-2',3'-dideoxyadenosine. (9397178)
1997
40
Genomic structure and expression of STM2, the chromosome 1 familial Alzheimer disease gene. (8661049)
1996
41
Glycerol permeability of mutant aquaporin 1 and other AQP-MIP proteins: inhibition studies. (8584435)
1996
42
Effect of stress on cardiovascular regulation in neurological diseases with dysautonomia. (1781313)
1991
43
Intestinal transit in healthy southern Indian subjects and in patients with tropical sprue. (2920924)
1989
44
Clinical and immunologic significance of cholera-like toxin and cytotoxin production by Campylobacter species in patients with acute inflammatory diarrhea in the USA. (2760498)
1989
45
Which chemotherapy for shigella dysentery? (4077188)
1985
46
Homozygous cystinuria--evaluation of 35 patients. (6279888)
1982
47
The use of D-penicillamine in cystinuria: efficacy and untoward reactions. (7342491)
1981
48
Chronic tropical sprue and pernicious anaemia in a young Indian man. (4427885)
1974
49
INTRATHORACIC MENINGOCELE: TWO ADDITIONAL CASES OF THIS RARE ENTITY. (14213488)
1964
50
Early Tahitian views on elephantiasis. (13443422)
1957

Variations for Xanthoma Disseminatum

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Expression for genes affiliated with Xanthoma Disseminatum

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Search GEO for disease gene expression data for Xanthoma Disseminatum.

Pathways for genes affiliated with Xanthoma Disseminatum

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GO Terms for genes affiliated with Xanthoma Disseminatum

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Sources for Xanthoma Disseminatum

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet