MCID: XNT009
MIFTS: 34

Xanthoma Disseminatum malady

Categories: Rare diseases, Bone diseases, Skin diseases

Aliases & Classifications for Xanthoma Disseminatum

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Sources:
31ICD10 via Orphanet, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Xanthoma Disseminatum:

Name: Xanthoma Disseminatum 48 54 50 68
 
Montgomery Syndrome 48 54

Characteristics:

Orphanet epidemiological data:

54
xanthoma disseminatum:
Inheritance: Not applicable

Classifications:



External Ids:

Orphanet54 ORPHA158003
UMLS via Orphanet69 C0043322
ICD10 via Orphanet31 D76.3

Summaries for Xanthoma Disseminatum

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Wikipedia:71 Xanthoma disseminatum (also known as \"Disseminated xanthosiderohistiocytosis\" and \"Montgomery... more...

MalaCards based summary: Xanthoma Disseminatum, also known as montgomery syndrome, is related to hypertriglyceridemia and xanthomatosis, and has symptoms including Array, Array and Array. An important gene associated with Xanthoma Disseminatum is APOB (Apolipoprotein B), and among its related pathways are Folate Metabolism and Metabolism of fat-soluble vitamins. Affiliated tissues include bone and skin, and related mouse phenotype Decreased free cholesterol.

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 52)
idRelated DiseaseScoreTop Affiliating Genes
1hypertriglyceridemia29.7APOB, APOE
2xanthomatosis10.1
3histiocytosis10.1
4hepatitis10.0
5diabetes insipidus10.0
6keratoconus 410.0APOB, APOE
7dentinogenesis imperfecta type 210.0APOB, APOE
8albinism, oculocutaneous, type v10.0APOB, APOE
9alzheimer disease 19, late onset10.0APOB, APOE
10severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome9.9APOB, APOE
11cetp-related hyperalphalipoproteinemia9.9APOB, APOE
12hypercholesterolemia, due to ligand-defective apo b9.9APOB, APOE
13joint disorders9.9APOB, APOE
14bird fancier's lung9.9APOB, APOE
15skin squamous cell carcinoma9.9APOB, APOE
16chondrocalcinosis with early-onset osteoarthritis9.9APOB, APOE
17stone in bladder diverticulum9.9APOB, APOE
18primary pigmented nodular adrenocortical disease9.9APOB, APOE
19gait apraxia9.9APOB, APOE
20von willebrand disease, platelet-type9.9APOB, APOE
21bleeding disorder, east texas type9.9APOB, APOE
22mannosidosis, beta9.9APOB, APOE
23optic nerve neoplasm9.9APOB, APOE
24neuropathy, hereditary sensory and autonomic, type ia9.9APOB, APOE
25cataract 5, multiple types9.9APOB, APOE
26acute apical periodontitis9.9APOB, APOE
27lipomatosis9.9APOB, APOE
28immunodeficiency 189.9APOB, APOE
29cervix small cell carcinoma9.9APOB, APOE
30multiple myeloma9.9
31arthritis9.9
32urticaria pigmentosa9.9
33urticaria9.9
34synovitis9.9
35cerebritis9.9
36laryngitis9.9
37retinitis9.9
38histiocytoma9.9
39non-langerhans-cell histiocytosis9.9
40juvenile xanthogranuloma9.9
41macroglobulinemia9.9
42hypopituitarism9.9
43bronchiectasis9.9
44myelophthisic anemia9.9APOB, APOE
45narcolepsy 69.8APOB, APOE
46budd-chiari syndrome9.8APOB, APOE
47pyrimidine metabolic disorder9.8APOB, APOE
48macular degeneration, age-related, 129.8APOB, APOE
49autoimmune-related retinopathy and optic neuropathy9.8APOB, APOE
50zap-70 deficiency9.8APOB, APOE, F13A1

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



Diseases related to xanthoma disseminatum

Symptoms & Phenotypes for Xanthoma Disseminatum

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Human phenotypes related to Xanthoma Disseminatum:

 54 64 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the lip64 54 Occasional (29-5%) HP:0000159
2 abnormality of the pharynx64 54 Occasional (29-5%) HP:0000600
3 diabetes insipidus64 54 Frequent (79-30%) HP:0000873
4 abnormality of the larynx64 54 Occasional (29-5%) HP:0001600
5 abnormality of the bronchi64 54 Occasional (29-5%) HP:0002109
6 osteolysis64 54 Very frequent (99-80%) HP:0002797

GenomeRNAi Phenotypes related to Xanthoma Disseminatum according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00340-A-29.0APOB, APOE

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:

36
Bone, Skin

Publications for Xanthoma Disseminatum

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Articles related to Xanthoma Disseminatum:

(show top 50)    (show all 88)
idTitleAuthorsYear
1
Xanthoma disseminatum with extensive koebnerization associated with familial hypertriglyceridemia. (27437441)
2016
2
Cerebral and Cutaneous Involvements of Xanthoma Disseminatum Successfully Treated with an Interleukin-1 Receptor Antagonist: A Case Report and Minireview. (26741816)
2016
3
Disseminated intracranial xanthoma disseminatum: a rare case report and review of literature. (27535029)
2016
4
Xanthoma disseminatum associated with inflammatory arthritis and synovitis--a rare association. (25496014)
2015
5
Xanthoma disseminatum: improvement in disfiguring facial lesions with cladribine. (26289386)
2015
6
Xanthoma disseminatum with tumor-like lesion on face. (25161777)
2014
7
Xanthoma disseminatum: case report and mini-review of the literature. (25102803)
2014
8
Nonablative 1,450-nm Diode Laser Treatment for Xanthoma Disseminatum. (25357166)
2014
9
Xanthoma disseminatum: a progressive case with multisystem involvement. (24625943)
2014
10
Intertriginous orange-to-brownish papules and plaques: a quiz. Xanthoma disseminatum. (23165822)
2013
11
Xanthoma disseminatum: a red herring xanthomatosis. (23442474)
2013
12
A Case of Xanthoma Disseminatum: Evaluation and Monitoring by (18) F-fluorodeoxyglucose (FDG) PET/CT. (24329687)
2013
13
Successful treatment of xanthoma disseminatum with combined lipid lowering agents. (22879732)
2012
14
Retinal manifestations in a patient with xanthoma disseminatum (non-langerhans cell histiocytosis). (21484660)
2011
15
Xanthoma disseminatum in a pair of blind, deaf male twins. (22363847)
2011
16
Successful treatment of xanthoma disseminatum with simvastatin. (21592199)
2011
17
Xanthoma disseminatum: effective therapy with 2-chlorodeoxyadenosine in a case series. (21173305)
2011
18
A case of xanthoma disseminatum with spontaneous resolution over 10 years: review of the literature on long-term follow-up. (21613781)
2011
19
Xanthoma disseminatum with intracranial involvement: case report and literature review. (20465646)
2010
20
Xanthoma disseminatum with atypical histochemical features. (20236289)
2010
21
A Case of Xanthoma Disseminatum Accentuating over the Eyelids. (20711279)
2010
22
Xanthoma disseminatum: case report and literature review. (20570816)
2010
23
Xanthoma disseminatum with koebnerized pearly penile lesions in an Indian man. (19702989)
2009
24
Xanthoma disseminatum in a child with cranial bone involvement. (18391701)
2008
25
Xanthoma disseminatum in a black African woman. (18986445)
2008
26
Inflammation and lipid accumulation in xanthoma disseminatum: Therapeutic considerations. (18191707)
2008
27
Xanthoma disseminatum of the central nervous system and cranium. (16611791)
2006
28
Hypopituitarism and rare dermatological diseases: an intriguing case of xanthoma disseminatum. (15963073)
2005
29
Xanthoma disseminatum with bilateral epibulbar involvement. (15767078)
2005
30
Xanthoma disseminatum: a case report and literature review. (15681329)
2005
31
Xanthoma disseminatum with hepatic involvement in a child. (16354260)
2005
32
Xanthoma disseminatum: a child with respiratory system involvement and bronchiectasis. (15521087)
2005
33
Xanthoma disseminatum with large plaques confined to the back, pulmonary involvement and multiple intestinal xanthomas. (15057010)
2004
34
Xanthoma disseminatum: case report. (15588563)
2004
35
Treatment of xanthoma disseminatum with cyclophosphamide. (14996108)
2004
36
Rare association of xanthoma disseminatum with skeletal involvement. (12869044)
2003
37
Xanthoma disseminatum: a rare cause of upper airway narrowing. (12646484)
2003
38
Xanthoma disseminatum: a rare intracranial mass. (12533335)
2003
39
Xanthoma disseminatum. (12492986)
2002
40
Bilateral laryngeal pseudoparalysis in xanthoma disseminatum treated by endoscopic laser medial arytenoidectomy. (11269772)
2001
41
Xanthoma disseminatum with respiratory tract involvement and fatal outcome. (10639538)
2000
42
Photo quiz. Xanthoma disseminatum. (10879300)
2000
43
Cerebrocutaneous xanthoma disseminatum and disseminated demyelinating encephalomyelitis. (10965168)
2000
44
Xanthoma disseminatum with multi-system involvement and fatal outcome. (10461659)
1999
45
Treatment of cutaneous lesions of xanthoma disseminatum with a CO2 laser. (10594575)
1999
46
Xanthoma disseminatum with marked mucocutaneous involvement]. (9835892)
1998
47
Xanthoma disseminatum: a case with hepatic involvement, diabetes insipidus and type IIb hyperlipidaemia. (10233626)
1998
48
Corneal involvement in xanthoma disseminatum. (9683962)
1998
49
Systemic xanthohistiocytoma: a variant of xanthoma disseminatum? (9580148)
1998
50
Xanthoma disseminatum in an infant with skeletal and marrow involvement. (7743240)
1995

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
2chylomicronGO:00426279.7APOB, APOE
3clathrin-coated endocytic vesicle membraneGO:00306699.6APOB, APOE
4early endosomeGO:00057699.5APOB, APOE
5endocytic vesicle lumenGO:00716829.5APOB, APOE
6intermediate-density lipoprotein particleGO:00343639.4APOB, APOE
7low-density lipoprotein particleGO:00343629.4APOB, APOE
8very-low-density lipoprotein particleGO:00343619.0APOB, APOE

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1artery morphogenesisGO:00488449.7APOB, APOE
2cellular protein metabolic processGO:00442679.7APOB, APOE
3cholesterol effluxGO:00333449.7APOB, APOE
4cholesterol homeostasisGO:00426329.7APOB, APOE
5cholesterol metabolic processGO:00082039.7APOB, APOE
6chylomicron assemblyGO:00343789.7APOB, APOE
7chylomicron remnant clearanceGO:00343829.7APOB, APOE
8chylomicron remodelingGO:00343719.7APOB, APOE
9lipid transportGO:00068699.7APOB, APOE
10lipoprotein biosynthetic processGO:00421589.7APOB, APOE
11lipoprotein catabolic processGO:00421599.7APOB, APOE
12lipoprotein metabolic processGO:00421579.7APOB, APOE
13low-density lipoprotein particle remodelingGO:00343749.7APOB, APOE
14receptor-mediated endocytosisGO:00068989.6APOB, APOE
15retinoid metabolic processGO:00015239.6APOB, APOE
16steroid metabolic processGO:00082029.4APOB, APOE
17triglyceride catabolic processGO:00194339.2APOB, APOE
18very-low-density lipoprotein particle clearanceGO:00344479.0APOB, APOE

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

idNameGO IDScoreTop Affiliating Genes
1cholesterol transporter activityGO:00171279.7APOB, APOE
2heparin bindingGO:00082019.7APOB, APOE
3lipid bindingGO:00082899.6APOB, APOE
4lipid transporter activityGO:00053199.6APOB, APOE
5low-density lipoprotein particle receptor bindingGO:00507509.5APOB, APOE
6phospholipid bindingGO:00055439.0APOB, APOE

Sources for Xanthoma Disseminatum

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet