MCID: XNT009
MIFTS: 34

Xanthoma Disseminatum malady

Skin diseases, Rare diseases categories

Aliases & Classifications for Xanthoma Disseminatum

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Sources:
51Orphanet, 65UMLS, 47Novoseek, 28ICD10 via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Xanthoma Disseminatum:

Name: Xanthoma Disseminatum 51 65 47
 
Montgomery Syndrome 51


Classifications:

Orphanet: 51 
Rare skin diseases


External Ids:

Orphanet51 158003
ICD10 via Orphanet28 D76.3
UMLS via Orphanet66 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 histiocytosis and xanthomatosis, 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, A1 Polypeptide), and among its related pathways are Lipoprotein metabolism and Visual phototransduction. Affiliated tissues include skin and bone, and related mouse phenotype reproductive system.

Related Diseases for Xanthoma Disseminatum

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

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1histiocytosis10.5
2xanthomatosis10.5
3hepatitis10.4
4diabetes insipidus10.4
5multiple myeloma10.3
6arthritis10.3
7langerhans-cell histiocytosis10.3
8urticaria pigmentosa10.3
9macroglobulinemia10.3
10bronchiectasis10.3
11juvenile xanthogranuloma10.3
12histiocytoma10.3
13hypopituitarism10.3
14laryngitis10.3
15myeloma10.3
16non-langerhans-cell histiocytosis10.3
17retinitis10.3
18synovitis10.3
19urticaria10.3
20hypercholesterolemia, due to ligand-defective apo b9.9APOB, APOE
21sarcomatoid renal cell carcinoma9.9APOB, APOE
22deficiency of n-glycanase 19.9APOB, APOE
23meckel syndrome 109.9APOB, APOE
24hyperphenilalaninemia due to pterin-4-alpha-carbin9.9APOB, APOE
25ischemic optic neuropathy9.9APOB, APOE
26off-periods in parkinson disease not responding to oral treatment9.9APOB, APOE
27esophagus carcinoma in situ9.9APOB, APOE
28hypobetalipoproteinemia9.9APOB, APOE
29scurvy9.9APOB, APOE
30yaws9.9APOB, APOE
31gallbladder sarcoma9.9APOB, APOE
32cranial nerve disease9.9APOB, APOE
33abetalipoproteinemia9.9APOB, APOE
34cauda equina neoplasm9.9APOB, APOE
35hypoalphalipoproteinemia9.9APOB, APOE
36immunodeficiency 32a, mycobacteriosis, autosomal dominant9.9APOB, APOE
37hyperlipidemia, familial combined9.9APOB, APOE
38fasciitis9.9APOB, APOE
39tangier disease9.9APOB, APOE
40lipid storage disease9.8APOB, APOE
41hypertriglyceridemia9.8APOB, APOE
42artery disease9.8APOB, APOE
43codas syndrome9.8APOB, APOE
44stroke, ischemic9.8APOB, APOE
45acquired polycythemia9.8APOB, APOE
46vascular hemostatic disease9.8APOB, APOE
47arthropathy9.7APOB, APOE
48progressive nodular histiocytosis9.7APOB, APOE, F13A1
49cerebrum cancer9.7APOB, APOE, F13A1
50myocardial infarction9.7APOB, APOE, F13A1

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

Animal Models for Xanthoma Disseminatum or affiliated genes

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MGI Mouse Phenotypes related to Xanthoma Disseminatum:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.5APOB, APOE, F13A1

Publications for Xanthoma Disseminatum

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Articles related to Xanthoma Disseminatum:

(show top 50)    (show all 85)
idTitleAuthorsYear
1
Xanthoma disseminatum associated with inflammatory arthritis and synovitis--a rare association. (25496014)
2015
2
Nonablative 1,450-nm Diode Laser Treatment for Xanthoma Disseminatum. (25357166)
2014
3
Xanthoma disseminatum: case report and mini-review of the literature. (25102803)
2014
4
Xanthoma disseminatum with tumor-like lesion on face. (25161777)
2014
5
Xanthoma disseminatum: a red herring xanthomatosis. (23442474)
2013
6
A Case of Xanthoma Disseminatum: Evaluation and Monitoring by (18) F-fluorodeoxyglucose (FDG) PET/CT. (24329687)
2013
7
Intertriginous orange-to-brownish papules and plaques: a quiz. Xanthoma disseminatum. (23165822)
2013
8
Xanthoma disseminatum: effective therapy with 2-chlorodeoxyadenosine in a case series. (21173305)
2011
9
A case of xanthoma disseminatum with spontaneous resolution over 10 years: review of the literature on long-term follow-up. (21613781)
2011
10
Retinal manifestations in a patient with xanthoma disseminatum (non-langerhans cell histiocytosis). (21484660)
2011
11
Successful treatment of xanthoma disseminatum with simvastatin. (21592199)
2011
12
Xanthoma disseminatum with atypical histochemical features. (20236289)
2010
13
Xanthoma disseminatum: case report and literature review. (20570816)
2010
14
Xanthoma disseminatum with koebnerized pearly penile lesions in an Indian man. (19702989)
2009
15
Xanthoma disseminatum in a black African woman. (18986445)
2008
16
Xanthoma disseminatum in a child with cranial bone involvement. (18391701)
2008
17
Inflammation and lipid accumulation in xanthoma disseminatum: Therapeutic considerations. (18191707)
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

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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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Cellular components related to Xanthoma Disseminatum according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:00725629.8APOE, F13A1
2endocytic vesicle lumenGO:00716829.7APOB, APOE
3intermediate-density lipoprotein particleGO:00343639.7APOB, APOE
4low-density lipoprotein particleGO:00343629.7APOB, APOE
5chylomicronGO:00426279.7APOB, APOE
6very-low-density lipoprotein particleGO:00343619.7APOB, APOE
7early endosomeGO:00057699.2APOB, APOE
8extracellular regionGO:00055768.5APOB, APOE, F13A1

Biological processes related to Xanthoma Disseminatum according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1lipoprotein biosynthetic processGO:00421589.8APOB, APOE
2lipoprotein catabolic processGO:00421599.8APOB, APOE
3low-density lipoprotein particle remodelingGO:00343749.6APOB, APOE
4cholesterol effluxGO:00333449.6APOB, APOE
5lipoprotein metabolic processGO:00421579.6APOB, APOE
6cholesterol homeostasisGO:00426329.5APOB, APOE
7cholesterol transportGO:00303019.5APOB, APOE
8lipid transportGO:00068699.5APOB, APOE
9artery morphogenesisGO:00488449.4APOB, APOE
10triglyceride catabolic processGO:00194339.4APOB, APOE
11lipid metabolic processGO:00066299.2APOB, APOE
12cholesterol metabolic processGO:00082039.2APOB, APOE
13retinoid metabolic processGO:00015239.1APOB, APOE
14receptor-mediated endocytosisGO:00068989.1APOB, APOE
15phototransduction, visible lightGO:00076039.0APOB, APOE

Molecular functions related to Xanthoma Disseminatum according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cholesterol transporter activityGO:00171279.6APOB, APOE
2low-density lipoprotein particle receptor bindingGO:00507509.5APOB, APOE
3lipid transporter activityGO:00053199.5APOB, APOE
4phospholipid bindingGO:00055439.1APOB, APOE
5lipid bindingGO:00082899.1APOB, APOE
6heparin bindingGO:00082019.0APOB, APOE

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