MCID: XNT009
MIFTS: 38

Xanthoma Disseminatum

Categories: Rare diseases, Bone diseases, Skin diseases

Aliases & Classifications for Xanthoma Disseminatum

MalaCards integrated aliases for Xanthoma Disseminatum:

Name: Xanthoma Disseminatum 49 55 51 69
Montgomery Syndrome 49 55

Characteristics:

Orphanet epidemiological data:

55
xanthoma disseminatum
Inheritance: Not applicable;

Classifications:



External Ids:

Orphanet 55 ORPHA158003
UMLS via Orphanet 70 C0043322
ICD10 via Orphanet 33 D76.3
UMLS 69 C0043322

Summaries for Xanthoma Disseminatum

MalaCards based summary : Xanthoma Disseminatum, also known as montgomery syndrome, is related to xanthomatosis and hypertriglyceridemia, familial, and has symptoms including abnormality of the lip, abnormality of the pharynx and diabetes insipidus. An important gene associated with Xanthoma Disseminatum is F13A1 (Coagulation Factor XIII A Chain), and among its related pathways/superpathways are Selenium Micronutrient Network and Metabolism of fat-soluble vitamins. Affiliated tissues include bone and skin, and related phenotype is Decreased free cholesterol.

Wikipedia : 72 Xanthoma disseminatum (also known as \"Disseminated xanthosiderohistiocytosis\" and \"Montgomery... more...

Related Diseases for Xanthoma Disseminatum

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 xanthomatosis 30.0 APOB APOE
2 hypertriglyceridemia, familial 29.6 APOB APOE
3 histiocytosis 10.2
4 diabetes insipidus 10.2
5 hepatitis 10.1
6 aspirin resistance 10.0 APOB F13A1
7 urticaria pigmentosa 10.0
8 urticaria 10.0
9 synovitis 10.0
10 cerebritis 10.0
11 laryngitis 10.0
12 retinitis 10.0
13 histiocytoma 10.0
14 non-langerhans-cell histiocytosis 10.0
15 myeloma, multiple 10.0
16 juvenile xanthogranuloma 10.0
17 macroglobulinemia 10.0
18 branchiootic syndrome 1 10.0
19 hypopituitarism 10.0
20 langerhans cell histiocytosis 10.0
21 hypertriglyceridemia, transient infantile 10.0
22 bronchiectasis 10.0
23 arthritis 10.0
24 hypercholesterolemia, autosomal dominant, type b 9.8 APOB APOE
25 defective apolipoprotein b-100 9.8 APOB APOE
26 leukodystrophy, hypomyelinating, 3 9.8 APOB APOE
27 lipoprotein glomerulopathy 9.8 APOB APOE
28 schnyder corneal dystrophy 9.8 APOB APOE
29 hypobetalipoproteinemia, familial, 1 9.8 APOB APOE
30 hyperlipoproteinemia, type iv 9.8 APOB APOE
31 homozygous familial hypercholesterolemia 9.8 APOB APOE
32 ischemic heart disease 9.8 APOB APOE
33 hypolipoproteinemia 9.8 APOB APOE
34 arcus corneae 9.8 APOB APOE
35 hyperlipoproteinemia, type iii 9.8 APOB APOE
36 hyperlipidemia, familial combined 9.8 APOB APOE
37 hyperalphalipoproteinemia 1 9.8 APOB APOE
38 coronary stenosis 9.8 APOB APOE
39 carotid artery disease 9.7 APOB APOE
40 abetalipoproteinemia 9.7 APOB APOE
41 lecithin:cholesterol acyltransferase deficiency 9.7 APOB APOE
42 coronary heart disease 1 9.7 APOB APOE
43 gallbladder disease 9.7 APOB APOE
44 tangier disease 9.7 APOB APOE
45 familial hyperlipidemia 9.7 APOB APOE
46 lipid metabolism disorder 9.7 APOB APOE
47 arteries, anomalies of 9.7 APOB APOE
48 atherosclerosis susceptibility 9.7 APOB APOE
49 arteriosclerosis 9.6 APOB APOE
50 cerebrovascular disease 9.6 APOB APOE

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



Diseases related to Xanthoma Disseminatum

Symptoms & Phenotypes for Xanthoma Disseminatum

Human phenotypes related to Xanthoma Disseminatum:

55 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the lip 55 31 occasional (7.5%) Occasional (29-5%) HP:0000159
2 abnormality of the pharynx 55 31 occasional (7.5%) Occasional (29-5%) HP:0000600
3 diabetes insipidus 55 31 frequent (33%) Frequent (79-30%) HP:0000873
4 abnormality of the larynx 55 31 occasional (7.5%) Occasional (29-5%) HP:0001600
5 abnormality of the bronchi 55 31 occasional (7.5%) Occasional (29-5%) HP:0002109
6 osteolysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002797

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.62 APOB APOE

Drugs & Therapeutics for Xanthoma Disseminatum

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 International Rare Histiocytic Disorders Registry (IRHDR) Recruiting NCT02285582

Search NIH Clinical Center for Xanthoma Disseminatum

Genetic Tests for Xanthoma Disseminatum

Anatomical Context for Xanthoma Disseminatum

MalaCards organs/tissues related to Xanthoma Disseminatum:

38
Bone, Skin

Publications for Xanthoma Disseminatum

Articles related to Xanthoma Disseminatum:

(show top 50) (show all 94)
# Title Authors Year
1
Xanthoma disseminatum. ( 29031846 )
2017
2
Xanthoma Disseminatum Presenting with Hoarseness. ( 29383319 )
2017
3
Dermatoscopic features of xanthoma disseminatum. ( 28940376 )
2017
4
Cladribine is a promising therapy for xanthoma disseminatum. ( 28544144 )
2017
5
Xanthoma Disseminatum in a Young Patient with Diabetes Insipidus. ( 28523884 )
2017
6
A case of xanthoma disseminatum treated with imatinib mesylate. ( 28401671 )
2017
7
Cerebral and Cutaneous Involvements of Xanthoma Disseminatum Successfully Treated with an Interleukin-1 Receptor Antagonist: A Case Report and Minireview. ( 26741816 )
2016
8
Xanthoma disseminatum with extensive koebnerization associated with familial hypertriglyceridemia. ( 27437441 )
2016
9
Disseminated intracranial xanthoma disseminatum: a rare case report and review of literature. ( 27535029 )
2016
10
Xanthoma disseminatum: improvement in disfiguring facial lesions with cladribine. ( 26289386 )
2015
11
Xanthoma disseminatum associated with inflammatory arthritis and synovitis--a rare association. ( 25496014 )
2015
12
Xanthoma disseminatum: a progressive case with multisystem involvement. ( 24625943 )
2014
13
Nonablative 1,450-nm Diode Laser Treatment for Xanthoma Disseminatum. ( 25357166 )
2014
14
Xanthoma disseminatum with tumor-like lesion on face. ( 25161777 )
2014
15
Xanthoma disseminatum: case report and mini-review of the literature. ( 25102803 )
2014
16
Xanthoma disseminatum: a red herring xanthomatosis. ( 23442474 )
2013
17
Intertriginous orange-to-brownish papules and plaques: a quiz. Xanthoma disseminatum. ( 23165822 )
2013
18
A Case of Xanthoma Disseminatum: Evaluation and Monitoring by (18) F-fluorodeoxyglucose (FDG) PET/CT. ( 24329687 )
2013
19
Successful treatment of xanthoma disseminatum with combined lipid lowering agents. ( 22879732 )
2012
20
A case of xanthoma disseminatum with spontaneous resolution over 10 years: review of the literature on long-term follow-up. ( 21613781 )
2011
21
Retinal manifestations in a patient with xanthoma disseminatum (non-langerhans cell histiocytosis). ( 21484660 )
2011
22
Xanthoma disseminatum in a pair of blind, deaf male twins. ( 22363847 )
2011
23
Xanthoma disseminatum: effective therapy with 2-chlorodeoxyadenosine in a case series. ( 21173305 )
2011
24
Successful treatment of xanthoma disseminatum with simvastatin. ( 21592199 )
2011
25
A Case of Xanthoma Disseminatum Accentuating over the Eyelids. ( 20711279 )
2010
26
Xanthoma disseminatum: case report and literature review. ( 20570816 )
2010
27
Xanthoma disseminatum with intracranial involvement: case report and literature review. ( 20465646 )
2010
28
Xanthoma disseminatum with atypical histochemical features. ( 20236289 )
2010
29
Xanthoma disseminatum with koebnerized pearly penile lesions in an Indian man. ( 19702989 )
2009
30
Xanthoma disseminatum in a black African woman. ( 18986445 )
2008
31
Xanthoma disseminatum in a child with cranial bone involvement. ( 18391701 )
2008
32
Inflammation and lipid accumulation in xanthoma disseminatum: Therapeutic considerations. ( 18191707 )
2008
33
Xanthoma disseminatum of the central nervous system and cranium. ( 16611791 )
2006
34
Xanthoma disseminatum: a case report and literature review. ( 15681329 )
2005
35
Hypopituitarism and rare dermatological diseases: an intriguing case of xanthoma disseminatum. ( 15963073 )
2005
36
Xanthoma disseminatum with hepatic involvement in a child. ( 16354260 )
2005
37
Xanthoma disseminatum: a child with respiratory system involvement and bronchiectasis. ( 15521087 )
2005
38
Xanthoma disseminatum with bilateral epibulbar involvement. ( 15767078 )
2005
39
Xanthoma disseminatum: case report. ( 15588563 )
2004
40
Treatment of xanthoma disseminatum with cyclophosphamide. ( 14996108 )
2004
41
Xanthoma disseminatum with large plaques confined to the back, pulmonary involvement and multiple intestinal xanthomas. ( 15057010 )
2004
42
Rare association of xanthoma disseminatum with skeletal involvement. ( 12869044 )
2003
43
Xanthoma disseminatum: a rare intracranial mass. ( 12533335 )
2003
44
Xanthoma disseminatum: a rare cause of upper airway narrowing. ( 12646484 )
2003
45
Xanthoma disseminatum. ( 12492986 )
2002
46
Bilateral laryngeal pseudoparalysis in xanthoma disseminatum treated by endoscopic laser medial arytenoidectomy. ( 11269772 )
2001
47
Cerebrocutaneous xanthoma disseminatum and disseminated demyelinating encephalomyelitis. ( 10965168 )
2000
48
Xanthoma disseminatum with respiratory tract involvement and fatal outcome. ( 10639538 )
2000
49
Photo quiz. Xanthoma disseminatum. ( 10879300 )
2000
50
Xanthoma disseminatum with multi-system involvement and fatal outcome. ( 10461659 )
1999

Variations for Xanthoma Disseminatum

Expression for Xanthoma Disseminatum

Search GEO for disease gene expression data for Xanthoma Disseminatum.

Pathways for Xanthoma Disseminatum

GO Terms for Xanthoma Disseminatum

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

# Name GO ID Score Top Affiliating Genes
1 early endosome GO:0005769 9.43 APOB APOE
2 blood microparticle GO:0072562 9.4 APOE F13A1
3 clathrin-coated endocytic vesicle membrane GO:0030669 9.37 APOB APOE
4 very-low-density lipoprotein particle GO:0034361 9.32 APOB APOE
5 endocytic vesicle lumen GO:0071682 9.26 APOB APOE
6 low-density lipoprotein particle GO:0034362 9.16 APOB APOE
7 chylomicron GO:0042627 8.96 APOB APOE
8 intermediate-density lipoprotein particle GO:0034363 8.62 APOB APOE

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.58 APOB APOE
2 receptor-mediated endocytosis GO:0006898 9.57 APOB APOE
3 lipid transport GO:0006869 9.56 APOB APOE
4 steroid metabolic process GO:0008202 9.55 APOB APOE
5 cholesterol metabolic process GO:0008203 9.54 APOB APOE
6 cholesterol homeostasis GO:0042632 9.52 APOB APOE
7 retinoid metabolic process GO:0001523 9.51 APOB APOE
8 triglyceride catabolic process GO:0019433 9.49 APOB APOE
9 lipoprotein metabolic process GO:0042157 9.48 APOB APOE
10 cholesterol efflux GO:0033344 9.46 APOB APOE
11 artery morphogenesis GO:0048844 9.43 APOB APOE
12 low-density lipoprotein particle remodeling GO:0034374 9.4 APOB APOE
13 chylomicron assembly GO:0034378 9.37 APOB APOE
14 chylomicron remodeling GO:0034371 9.32 APOB APOE
15 chylomicron remnant clearance GO:0034382 9.26 APOB APOE
16 lipoprotein biosynthetic process GO:0042158 9.16 APOB APOE
17 very-low-density lipoprotein particle clearance GO:0034447 8.96 APOB APOE
18 lipoprotein catabolic process GO:0042159 8.62 APOB APOE

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

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.32 APOB APOE
2 phospholipid binding GO:0005543 9.26 APOB APOE
3 lipid transporter activity GO:0005319 9.16 APOB APOE
4 low-density lipoprotein particle receptor binding GO:0050750 8.96 APOB APOE
5 cholesterol transporter activity GO:0017127 8.62 APOB APOE

Sources for Xanthoma Disseminatum

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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