MCID: XNT009
MIFTS: 25

Xanthoma Disseminatum malady

Categories: Skin diseases, Rare diseases

Aliases & Classifications for Xanthoma Disseminatum

About this section
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

About this section
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 xanthomatosis and histiocytosis, 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, liver and bone.

Related Diseases for Xanthoma Disseminatum

About this section

Diseases related to Xanthoma Disseminatum via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
idRelated DiseaseScoreTop Affiliating Genes
1xanthomatosis10.2
2histiocytosis10.2
3hepatitis10.1
4diabetes insipidus10.1
5multiple myeloma10.0
6arthritis10.0
7myeloma10.0
8urticaria pigmentosa10.0
9urticaria10.0
10langerhans-cell histiocytosis10.0
11synovitis10.0
12cerebritis10.0
13laryngitis10.0
14retinitis10.0
15histiocytoma10.0
16non-langerhans-cell histiocytosis10.0
17juvenile xanthogranuloma10.0
18macroglobulinemia10.0
19hypopituitarism10.0
20bronchiectasis10.0

Graphical network of diseases related to Xanthoma Disseminatum:



Diseases related to xanthoma disseminatum

Symptoms for Xanthoma Disseminatum

About this section

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

About this section

Interventional clinical trials:

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

Search NIH Clinical Center for Xanthoma Disseminatum

Genetic Tests for Xanthoma Disseminatum

About this section

Anatomical Context for Xanthoma Disseminatum

About this section

MalaCards organs/tissues related to Xanthoma Disseminatum:

33
Skin, Liver, Bone, Prostate, B cells, Neutrophil, Endothelial

Animal Models for Xanthoma Disseminatum or affiliated genes

About this section

Publications for Xanthoma Disseminatum

About this section

Articles related to Xanthoma Disseminatum:

(show top 50)    (show all 86)
idTitleAuthorsYear
1
Cerebral and Cutaneous Involvements of Xanthoma Disseminatum Successfully Treated with an Interleukin-1 Receptor Antagonist: A Case Report and Minireview. (26741816)
2016
2
Xanthoma disseminatum associated with inflammatory arthritis and synovitis--a rare association. (25496014)
2015
3
Nonablative 1,450-nm Diode Laser Treatment for Xanthoma Disseminatum. (25357166)
2014
4
Xanthoma disseminatum: case report and mini-review of the literature. (25102803)
2014
5
Xanthoma disseminatum with tumor-like lesion on face. (25161777)
2014
6
Xanthoma disseminatum: a red herring xanthomatosis. (23442474)
2013
7
A Case of Xanthoma Disseminatum: Evaluation and Monitoring by (18) F-fluorodeoxyglucose (FDG) PET/CT. (24329687)
2013
8
Intertriginous orange-to-brownish papules and plaques: a quiz. Xanthoma disseminatum. (23165822)
2013
9
Xanthoma disseminatum: effective therapy with 2-chlorodeoxyadenosine in a case series. (21173305)
2011
10
A case of xanthoma disseminatum with spontaneous resolution over 10 years: review of the literature on long-term follow-up. (21613781)
2011
11
Retinal manifestations in a patient with xanthoma disseminatum (non-langerhans cell histiocytosis). (21484660)
2011
12
Successful treatment of xanthoma disseminatum with simvastatin. (21592199)
2011
13
Xanthoma disseminatum with atypical histochemical features. (20236289)
2010
14
Xanthoma disseminatum: case report and literature review. (20570816)
2010
15
Xanthoma disseminatum with koebnerized pearly penile lesions in an Indian man. (19702989)
2009
16
Xanthoma disseminatum in a black African woman. (18986445)
2008
17
Xanthoma disseminatum in a child with cranial bone involvement. (18391701)
2008
18
Xanthoma disseminatum: a case report and literature review. (15681329)
2005
19
Xanthoma disseminatum with bilateral epibulbar involvement. (15767078)
2005
20
Xanthoma disseminatum: a child with respiratory system involvement and bronchiectasis. (15521087)
2005
21
Hypopituitarism and rare dermatological diseases: an intriguing case of xanthoma disseminatum. (15963073)
2005
22
Xanthoma disseminatum: case report. (15588563)
2004
23
Xanthoma disseminatum: a rare cause of upper airway narrowing. (12646484)
2003
24
Xanthoma disseminatum with respiratory tract involvement and fatal outcome. (10639538)
2000
25
Xanthoma disseminatum: a case with hepatic involvement, diabetes insipidus and type IIb hyperlipidaemia. (10233626)
1998
26
Corneal involvement in xanthoma disseminatum. (9683962)
1998
27
Urticaria pigmentosa mimicking xanthoma disseminatum. (20952937)
1995
28
Xanthoma disseminatum with massive intracranial involvement. (8605736)
1995
29
The various clinical patterns of xanthoma disseminatum. Considerations on seven cases and review of the literature. (7894090)
1995
30
Xanthoma disseminatum, a rare cause of diabetes insipidus. (8445037)
1993
31
Xanthoma disseminatum. (8216024)
1993
32
Xanthoma disseminatum: a rare normolipemic xanthomatosis. (8481626)
1993
33
Histologic and immunohistochemical study comparing xanthoma disseminatum and histiocytosis X. (1519935)
1992
34
Xanthoma disseminatum. (1634296)
1992
35
An unusual case of Xanthoma disseminatum. (1592553)
1992
36
Nodular lesions on the face and trunk. Xanthoma disseminatum (XD). (1952983)
1991
37
Xanthoma disseminatum and WaldenstrAPm's macroglobulinemia. (2121806)
1990
38
Xanthoma disseminatum: a rare condition with non-X, non-lipid cutaneous histiocytopathy. (3261744)
1988
39
Juvenile xanthogranulomas and xanthoma disseminatum--variations on a single theme. (3088071)
1986
40
Bone lesions in xanthoma disseminatum. (4037827)
1985
41
Xanthoma disseminatum. (3841561)
1985
42
Xanthoma disseminatum: an unusual cause of facial and limb deformity. (6611781)
1983
43
Xanthoma disseminatum: its otolaryngological manifestations. (429900)
1979
44
Xanthoma disseminatum and multiple myeloma. (4420882)
1974
45
Xanthoma disseminatum. Clinical and laboratory observations over a ten year period. (5414357)
1970
46
A NECROPSY REPORT OF A PATIENT WITH XANTHOMA DISSEMINATUM. (14319647)
1965
47
Tissue lipid patterns in a case of xanthoma disseminatum. (13971828)
1963
48
Ocular lesions of nevoxanthoendothelioma (infantile xanthoma disseminatum). (13360795)
1956
49
Xanthoma disseminatum; an unusual form with extension of xanthomatous changes into muscle. (14877294)
1952
50
Xanthoma disseminatum. (20287977)
1947

Variations for Xanthoma Disseminatum

About this section

Expression for genes affiliated with Xanthoma Disseminatum

About this section
Search GEO for disease gene expression data for Xanthoma Disseminatum.

Pathways for genes affiliated with Xanthoma Disseminatum

About this section

GO Terms for genes affiliated with Xanthoma Disseminatum

About this section

Sources for Xanthoma Disseminatum

About this section
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