MCID: XNT009
MIFTS: 34

Xanthoma Disseminatum malady

Categories: Bone diseases, Skin diseases, Rare diseases

Aliases & Classifications for Xanthoma Disseminatum

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Sources:
52Orphanet, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Xanthoma Disseminatum:

Name: Xanthoma Disseminatum 52 48 66
 
Montgomery Syndrome 52

Characteristics:

Orphanet epidemiological data:

52
xanthoma disseminatum:
Inheritance: Not applicable

Classifications:



External Ids:

Orphanet52 ORPHA158003
ICD10 via Orphanet29 D76.3
UMLS via Orphanet67 C0043322

Summaries for Xanthoma Disseminatum

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Wikipedia:69 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 APOB (Apolipoprotein B), and among its related pathways are Metabolism of water-soluble vitamins and cofactors and Metabolism of fat-soluble vitamins. Affiliated tissues include skin and bone, and related mouse phenotype pigmentation.

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 56)
idRelated DiseaseScoreTop Affiliating Genes
1xanthomatosis10.2
2histiocytosis10.2
3hepatitis10.1
4diabetes insipidus10.1
5multiple myeloma10.0
6hypertriglyceridemia10.0
7arthritis10.0
8myeloma10.0
9urticaria pigmentosa10.0
10urticaria10.0
11langerhans-cell histiocytosis10.0
12synovitis10.0
13cerebritis10.0
14laryngitis10.0
15retinitis10.0
16histiocytoma10.0
17non-langerhans-cell histiocytosis10.0
18juvenile xanthogranuloma10.0
19macroglobulinemia10.0
20hypopituitarism10.0
21bronchiectasis10.0
22dysmorphism-pectus carinatum-joint laxity syndrome9.9APOB, APOE
23dermal unilateral segmental cavernous angioma9.9APOB, APOE
24hypercholesterolemia, due to ligand-defective apo b9.9APOB, APOE
25degos 'en cocarde' erythrokeratoderma9.9APOB, APOE
26casr-related disorders9.9APOB, APOE
27alzheimer disease 19, late onset9.9APOB, APOE
28polyneuropathy9.9APOB, APOE
29rubinstein taybi like syndrome9.9APOB, APOE
30islet cell tumor9.9APOB, APOE
31peripheral degeneration of cornea9.9APOB, APOE
32bladder diverticulum9.9APOB, APOE
33inflamed seborrheic keratosis9.9APOB, APOE
34hypobetalipoproteinemia9.9APOB, APOE
35chondrocalcinosis with early-onset osteoarthritis9.9APOB, APOE
36pontocerebellar hypoplasia9.9APOB, APOE
37surf1-related charcot-marie-tooth disease type 49.8APOB, APOE
38keratoacanthoma9.8APOB, APOE
39wolfram syndrome 29.8APOB, APOE
40von willebrand disease, platelet-type9.8APOB, APOE
41glossopharyngeal nerve neoplasm9.8APOB, APOE
42apolipoprotein c-iii deficiency9.8APOB, APOE
43obesity, hyperphagia, and developmental delay9.8APOB, APOE
44iron metabolism disease9.8APOB, APOE
45littre gland carcinoma9.8APOB, APOE
46gemistocytic astrocytoma9.8APOB, APOE
47narcolepsy 69.7APOB, APOE
48immunodeficiency 199.7APOB, APOE
49adrenal rest tumor9.7APOB, APOE
50autoimmune hepatitis9.7APOB, APOE

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:

 52
  • abnormality of the lip
  • abnormality of the pharynx
  • diabetes insipidus
  • abnormality of the larynx
  • abnormality of the bronchi
  • osteolysis

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:

34
Skin, Bone

Animal Models for Xanthoma Disseminatum or affiliated genes

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MGI Mouse Phenotypes related to Xanthoma Disseminatum:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1APOB, APOE

Publications for Xanthoma Disseminatum

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Articles related to Xanthoma Disseminatum:

(show top 50)    (show all 88)
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
Disseminated intracranial xanthoma disseminatum: a rare case report and review of literature. (27535029)
2016
3
Xanthoma disseminatum associated with inflammatory arthritis and synovitis--a rare association. (25496014)
2015
4
Xanthoma disseminatum: improvement in disfiguring facial lesions with cladribine. (26289386)
2015
5
Xanthoma disseminatum: case report and mini-review of the literature. (25102803)
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
Successful treatment of xanthoma disseminatum with combined lipid lowering agents. (22879732)
2012
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: effective therapy with 2-chlorodeoxyadenosine in a case series. (21173305)
2011
13
Xanthoma disseminatum with atypical histochemical features. (20236289)
2010
14
Xanthoma disseminatum with koebnerized pearly penile lesions in an Indian man. (19702989)
2009
15
Hypopituitarism and rare dermatological diseases: an intriguing case of xanthoma disseminatum. (15963073)
2005
16
Xanthoma disseminatum: a case report and literature review. (15681329)
2005
17
Treatment of xanthoma disseminatum with cyclophosphamide. (14996108)
2004
18
Xanthoma disseminatum: case report. (15588563)
2004
19
Xanthoma disseminatum: a rare cause of upper airway narrowing. (12646484)
2003
20
Rare association of xanthoma disseminatum with skeletal involvement. (12869044)
2003
21
Xanthoma disseminatum: a rare intracranial mass. (12533335)
2003
22
Xanthoma disseminatum. (12492986)
2002
23
Bilateral laryngeal pseudoparalysis in xanthoma disseminatum treated by endoscopic laser medial arytenoidectomy. (11269772)
2001
24
Xanthoma disseminatum with respiratory tract involvement and fatal outcome. (10639538)
2000
25
Xanthoma disseminatum with multi-system involvement and fatal outcome. (10461659)
1999
26
Treatment of cutaneous lesions of xanthoma disseminatum with a CO2 laser. (10594575)
1999
27
Xanthoma disseminatum: a case with hepatic involvement, diabetes insipidus and type IIb hyperlipidaemia. (10233626)
1998
28
Xanthoma disseminatum in an infant with skeletal and marrow involvement. (7743240)
1995
29
Urticaria pigmentosa mimicking xanthoma disseminatum. (20952937)
1995
30
Xanthoma disseminatum, a rare cause of diabetes insipidus. (8445037)
1993
31
Xanthoma disseminatum. (8216024)
1993
32
Xanthoma disseminatum. (1634296)
1992
33
Histologic and immunohistochemical study comparing xanthoma disseminatum and histiocytosis X. (1519935)
1992
34
Nodular lesions on the face and trunk. Xanthoma disseminatum (XD). (1952983)
1991
35
Xanthoma disseminatum and WaldenstrAPm's macroglobulinemia. (2121806)
1990
36
Xanthoma disseminatum. (2269570)
1990
37
Xanthoma disseminatum: a rare condition with non-X, non-lipid cutaneous histiocytopathy. (3261744)
1988
38
Xanthoma disseminatum. An unusual histiocytosis syndrome. (3140686)
1988
39
Juvenile xanthogranulomas and xanthoma disseminatum--variations on a single theme. (3088071)
1986
40
Disseminated xanthosiderohistiocytosis, a variant of xanthoma disseminatum, in a patient with a plasma cell dyscrasia. (6491001)
1984
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. (4855434)
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 (also tuberosum et planum). (20287976)
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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Pathways related to Xanthoma Disseminatum according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1APOB, APOE
2
Show member pathways
9.1APOB, APOE
3
Show member pathways
9.1APOB, APOE
4
Show member pathways
9.1APOB, APOE
5
Show member pathways
9.1APOB, APOE

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
1intermediate-density lipoprotein particleGO:00343639.7APOB, APOE
2chylomicronGO:00426279.7APOB, APOE
3low-density lipoprotein particleGO:00343629.7APOB, APOE
4very-low-density lipoprotein particleGO:00343619.7APOB, APOE
5endocytic vesicle lumenGO:00716829.6APOB, APOE
6early endosomeGO:00057699.3APOB, APOE
7neuronal cell bodyGO:00430259.1APOB, APOE

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1lipoprotein biosynthetic processGO:00421589.7APOB, APOE
2lipoprotein catabolic processGO:00421599.6APOB, APOE
3cholesterol effluxGO:00333449.6APOB, APOE
4low-density lipoprotein particle remodelingGO:00343749.6APOB, APOE
5artery morphogenesisGO:00488449.6APOB, APOE
6lipoprotein metabolic processGO:00421579.5APOB, APOE
7triglyceride catabolic processGO:00194339.4APOB, APOE
8lipid metabolic processGO:00066299.3APOB, APOE
9cholesterol homeostasisGO:00426329.3APOB, APOE
10cholesterol metabolic processGO:00082039.2APOB, APOE
11retinoid metabolic processGO:00015239.2APOB, APOE
12receptor-mediated endocytosisGO:00068989.1APOB, APOE

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

idNameGO IDScoreTop Affiliating Genes
1cholesterol transporter activityGO:00171279.5APOB, APOE
2heparin bindingGO:00082019.4APOB, APOE
3phospholipid bindingGO:00055439.2APOB, APOE
4lipid bindingGO:00082899.1APOB, APOE
5low-density lipoprotein particle receptor bindingGO:00507509.0APOB, APOE

Sources for Xanthoma Disseminatum

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet