MCID: XNT009
MIFTS: 26

Xanthoma Disseminatum malady

Skin diseases, Rare diseases categories
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Summaries for Xanthoma Disseminatum

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Wikipedia:65 Xanthoma disseminatum (also known as \"Disseminated xanthosiderohistiocytosis\" and \"Montgomery... more...

MalaCards based summary: Xanthoma Disseminatum, also known as montgomery syndrome, is related to histiocytosis and xanthomatosis, and has symptoms including follicular/erythematous/edematous papules/milium, osteolysis/osteoclasia/bone destruction/erosions and enanthema/aphtosa/aphta/leukoplakia. An important gene associated with Xanthoma Disseminatum is F13A1 (coagulation factor XIII, A1 polypeptide). Affiliated tissues include bone and skin.

Aliases & Classifications for Xanthoma Disseminatum

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Sources:
48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Xanthoma Disseminatum, Aliases & Descriptions:

Name: Xanthoma Disseminatum 48 62
 
Montgomery Syndrome 48


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Skin diseases
Orphanet: 48 
Rare skin diseases


External Ids:

ICD10 via Orphanet26 D76.3
UMLS via Orphanet63 C0043322

Related Diseases for Xanthoma Disseminatum

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

(show all 18)
idRelated DiseaseScoreTop Affiliating Genes
1histiocytosis10.5
2xanthomatosis10.5
3hepatitis10.4
4diabetes insipidus10.4
5multiple myeloma10.2
6langerhans-cell histiocytosis10.2
7bronchiectasis10.2
8juvenile xanthogranuloma10.2
9macroglobulinemia10.2
10urticaria pigmentosa10.2
11histiocytoma10.2
12hypopituitarism10.2
13laryngitis10.2
14myeloma10.2
15non-langerhans-cell histiocytosis10.2
16retinitis10.2
17urticaria10.2
18blindness10.2

Graphical network of diseases related to Xanthoma Disseminatum:



Diseases related to xanthoma disseminatum

Symptoms for Xanthoma Disseminatum

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Symptoms:

48
  • 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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Drug clinical trials:

Search ClinicalTrials for Xanthoma Disseminatum

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:

32
Bone, Skin

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 82)
idTitleAuthorsYear
1
Nonablative 1,450-nm Diode Laser Treatment for Xanthoma Disseminatum. (25357166)
2014
2
Xanthoma disseminatum: case report and mini-review of the literature. (25102803)
2014
3
Xanthoma disseminatum: a red herring xanthomatosis. (23442474)
2013
4
A Case of Xanthoma Disseminatum: Evaluation and Monitoring by (18) F-fluorodeoxyglucose (FDG) PET/CT. (24329687)
2013
5
Intertriginous orange-to-brownish papules and plaques: a quiz. Xanthoma disseminatum. (23165822)
2013
6
Xanthoma disseminatum: effective therapy with 2-chlorodeoxyadenosine in a case series. (21173305)
2011
7
A case of xanthoma disseminatum with spontaneous resolution over 10 years: review of the literature on long-term follow-up. (21613781)
2011
8
Retinal manifestations in a patient with xanthoma disseminatum (non-langerhans cell histiocytosis). (21484660)
2011
9
Successful treatment of xanthoma disseminatum with simvastatin. (21592199)
2011
10
Xanthoma disseminatum with atypical histochemical features. (20236289)
2010
11
Xanthoma disseminatum: case report and literature review. (20570816)
2010
12
Xanthoma disseminatum with koebnerized pearly penile lesions in an Indian man. (19702989)
2009
13
Xanthoma disseminatum in a black African woman. (18986445)
2008
14
Xanthoma disseminatum in a child with cranial bone involvement. (18391701)
2008
15
Inflammation and lipid accumulation in xanthoma disseminatum: Therapeutic considerations. (18191707)
2008
16
Xanthoma disseminatum: a case report and literature review. (15681329)
2005
17
Xanthoma disseminatum with bilateral epibulbar involvement. (15767078)
2005
18
Xanthoma disseminatum: a child with respiratory system involvement and bronchiectasis. (15521087)
2005
19
Hypopituitarism and rare dermatological diseases: an intriguing case of xanthoma disseminatum. (15963073)
2005
20
Xanthoma disseminatum: case report. (15588563)
2004
21
Xanthoma disseminatum with large plaques confined to the back, pulmonary involvement and multiple intestinal xanthomas. (15057010)
2004
22
Xanthoma disseminatum: a rare cause of upper airway narrowing. (12646484)
2003
23
Xanthoma disseminatum with respiratory tract involvement and fatal outcome. (10639538)
2000
24
Xanthoma disseminatum: a case with hepatic involvement, diabetes insipidus and type IIb hyperlipidaemia. (10233626)
1998
25
Corneal involvement in xanthoma disseminatum. (9683962)
1998
26
Urticaria pigmentosa mimicking xanthoma disseminatum. (20952937)
1995
27
Xanthoma disseminatum with massive intracranial involvement. (8605736)
1995
28
The various clinical patterns of xanthoma disseminatum. Considerations on seven cases and review of the literature. (7894090)
1995
29
Xanthoma disseminatum, a rare cause of diabetes insipidus. (8445037)
1993
30
Xanthoma disseminatum. (8216024)
1993
31
Xanthoma disseminatum: a rare normolipemic xanthomatosis. (8481626)
1993
32
Histologic and immunohistochemical study comparing xanthoma disseminatum and histiocytosis X. (1519935)
1992
33
Xanthoma disseminatum. (1634296)
1992
34
An unusual case of Xanthoma disseminatum. (1592553)
1992
35
Nodular lesions on the face and trunk. Xanthoma disseminatum (XD). (1952983)
1991
36
Xanthoma disseminatum and WaldenstrAPm's macroglobulinemia. (2121806)
1990
37
Xanthoma disseminatum: a rare condition with non-X, non-lipid cutaneous histiocytopathy. (3261744)
1988
38
Juvenile xanthogranulomas and xanthoma disseminatum--variations on a single theme. (3088071)
1986
39
Bone lesions in xanthoma disseminatum. (4037827)
1985
40
Xanthoma disseminatum. (3841561)
1985
41
Xanthoma disseminatum: an unusual cause of facial and limb deformity. (6611781)
1983
42
Xanthoma disseminatum: its otolaryngological manifestations. (429900)
1979
43
Xanthoma disseminatum of the head and neck. (499025)
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

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Expression for genes affiliated with Xanthoma Disseminatum

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Expression patterns in normal tissues for genes affiliated with Xanthoma Disseminatum

Search GEO for disease gene expression data for Xanthoma Disseminatum.

Pathways for genes affiliated with Xanthoma Disseminatum

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Compounds for genes affiliated with Xanthoma Disseminatum

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GO Terms for genes affiliated with Xanthoma Disseminatum

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Products for genes affiliated with Xanthoma Disseminatum

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  • Antibodies
  • Proteins
  • Lysates

Sources for Xanthoma Disseminatum

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet