MCID: XNT009
MIFTS: 34

Xanthoma Disseminatum

Categories: Rare diseases, Bone diseases, Skin diseases

Aliases & Classifications for Xanthoma Disseminatum

MalaCards integrated aliases for Xanthoma Disseminatum:

Name: Xanthoma Disseminatum 50 56 52 69
Montgomery Syndrome 50 56

Characteristics:

Orphanet epidemiological data:

56
xanthoma disseminatum
Inheritance: Not applicable;

Classifications:



External Ids:

Orphanet 56 ORPHA158003
UMLS via Orphanet 70 C0043322
ICD10 via Orphanet 34 D76.3

Summaries for Xanthoma Disseminatum

MalaCards based summary : Xanthoma Disseminatum, also known as montgomery syndrome, is related to xanthomatosis and histiocytosis, 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 Metabolism of fat-soluble vitamins and Binding and Uptake of Ligands by Scavenger Receptors. 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 55)
id Related Disease Score Top Affiliating Genes
1 xanthomatosis 10.1
2 histiocytosis 10.1
3 diabetes insipidus 10.1
4 hepatitis 10.0
5 multiple myeloma 9.9
6 hypertriglyceridemia 9.9
7 arthritis 9.9
8 urticaria pigmentosa 9.9
9 urticaria 9.9
10 synovitis 9.9
11 cerebritis 9.9
12 laryngitis 9.9
13 retinitis 9.9
14 histiocytoma 9.9
15 non-langerhans-cell histiocytosis 9.9
16 juvenile xanthogranuloma 9.9
17 macroglobulinemia 9.9
18 hypopituitarism 9.9
19 bronchiectasis 9.9
20 hypercholesterolemia, due to ligand-defective apo b 9.8 APOB APOE
21 delta-1-pyrroline-5-carboxylate dehydrogenase deficiency 9.8 APOB APOE
22 migraine with or without aura 1 9.8 APOB APOE
23 cataract, autosomal dominant congenital 4 9.8 APOB APOE
24 mental retardation, autosomal dominant 45 9.8 APOB APOE
25 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression 9.8 APOB APOE
26 islet cell tumor 9.8 APOB APOE
27 bird fancier's lung 9.8 APOB APOE
28 hypobetalipoproteinemia 9.8 APOB APOE
29 alzheimer disease-2 9.8 APOB APOE
30 chondrocalcinosis with early-onset osteoarthritis 9.8 APOB APOE
31 malignant fibrous histiocytoma of bone 9.8 APOB APOE
32 stone in bladder diverticulum 9.8 APOB APOE
33 pontocerebellar hypoplasia 9.8 APOB APOE
34 melorheostosis 9.7 APOB APOE
35 fish-eye disease 9.7 APOB APOE
36 glossopharyngeal nerve disease 9.7 APOB APOE
37 hyperlipidemia, familial combined 9.7 APOB APOE
38 apolipoprotein c-iii deficiency 9.7 APOB APOE
39 wolfram syndrome 2 9.7 APOB APOE
40 acute apical periodontitis 9.7 APOB APOE
41 obesity, hyperphagia, and developmental delay 9.7 APOB APOE
42 lissencephaly 6, with microcephaly 9.7 APOB APOE
43 skin squamous cell carcinoma 9.6 APOB APOE
44 hyperchylomicronemia, late-onset 9.6 APOB APOE
45 myelophthisic anemia 9.6 APOB APOE
46 malignant type ab thymoma 9.6 APOB APOE
47 codas syndrome 9.6 APOB APOE
48 peripheral artery disease 9.5 APOB APOE
49 stroke, ischemic 9.5 APOB APOE
50 autoimmune hepatitis 9.4 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:

56 32 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the lip 56 32 occasional (7.5%) Occasional (29-5%) HP:0000159
2 abnormality of the pharynx 56 32 occasional (7.5%) Occasional (29-5%) HP:0000600
3 diabetes insipidus 56 32 frequent (33%) Frequent (79-30%) HP:0000873
4 abnormality of the larynx 56 32 occasional (7.5%) Occasional (29-5%) HP:0001600
5 abnormality of the bronchi 56 32 occasional (7.5%) Occasional (29-5%) HP:0002109
6 osteolysis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002797

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.62 APOE APOB

Drugs & Therapeutics for Xanthoma Disseminatum

Interventional clinical trials:


id 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:

39
Bone, Skin

Publications for Xanthoma Disseminatum

Articles related to Xanthoma Disseminatum:

(show top 50) (show all 92)
id Title Authors Year
1
Dermatoscopic features of xanthoma disseminatum. ( 28940376 )
2017
2
Xanthoma Disseminatum in a Young Patient with Diabetes Insipidus. ( 28523884 )
2017
3
A case of xanthoma disseminatum treated with imatinib mesylate. ( 28401671 )
2017
4
Cladribine is a promising therapy for xanthoma disseminatum. ( 28544144 )
2017
5
Disseminated intracranial xanthoma disseminatum: a rare case report and review of literature. ( 27535029 )
2016
6
Cerebral and Cutaneous Involvements of Xanthoma Disseminatum Successfully Treated with an Interleukin-1 Receptor Antagonist: A Case Report and Minireview. ( 26741816 )
2016
7
Xanthoma disseminatum with extensive koebnerization associated with familial hypertriglyceridemia. ( 27437441 )
2016
8
Xanthoma disseminatum: improvement in disfiguring facial lesions with cladribine. ( 26289386 )
2015
9
Xanthoma disseminatum associated with inflammatory arthritis and synovitis--a rare association. ( 25496014 )
2015
10
Xanthoma disseminatum: case report and mini-review of the literature. ( 25102803 )
2014
11
Nonablative 1,450-nm Diode Laser Treatment for Xanthoma Disseminatum. ( 25357166 )
2014
12
Xanthoma disseminatum with tumor-like lesion on face. ( 25161777 )
2014
13
Xanthoma disseminatum: a progressive case with multisystem involvement. ( 24625943 )
2014
14
Intertriginous orange-to-brownish papules and plaques: a quiz. Xanthoma disseminatum. ( 23165822 )
2013
15
Xanthoma disseminatum: a red herring xanthomatosis. ( 23442474 )
2013
16
A Case of Xanthoma Disseminatum: Evaluation and Monitoring by (18) F-fluorodeoxyglucose (FDG) PET/CT. ( 24329687 )
2013
17
Successful treatment of xanthoma disseminatum with combined lipid lowering agents. ( 22879732 )
2012
18
Xanthoma disseminatum: effective therapy with 2-chlorodeoxyadenosine in a case series. ( 21173305 )
2011
19
Successful treatment of xanthoma disseminatum with simvastatin. ( 21592199 )
2011
20
Retinal manifestations in a patient with xanthoma disseminatum (non-langerhans cell histiocytosis). ( 21484660 )
2011
21
Xanthoma disseminatum in a pair of blind, deaf male twins. ( 22363847 )
2011
22
A case of xanthoma disseminatum with spontaneous resolution over 10 years: review of the literature on long-term follow-up. ( 21613781 )
2011
23
Xanthoma disseminatum with atypical histochemical features. ( 20236289 )
2010
24
Xanthoma disseminatum: case report and literature review. ( 20570816 )
2010
25
A Case of Xanthoma Disseminatum Accentuating over the Eyelids. ( 20711279 )
2010
26
Xanthoma disseminatum with intracranial involvement: case report and literature review. ( 20465646 )
2010
27
Xanthoma disseminatum with koebnerized pearly penile lesions in an Indian man. ( 19702989 )
2009
28
Xanthoma disseminatum in a child with cranial bone involvement. ( 18391701 )
2008
29
Xanthoma disseminatum in a black African woman. ( 18986445 )
2008
30
Inflammation and lipid accumulation in xanthoma disseminatum: Therapeutic considerations. ( 18191707 )
2008
31
Xanthoma disseminatum of the central nervous system and cranium. ( 16611791 )
2006
32
Xanthoma disseminatum: a case report and literature review. ( 15681329 )
2005
33
Hypopituitarism and rare dermatological diseases: an intriguing case of xanthoma disseminatum. ( 15963073 )
2005
34
Xanthoma disseminatum with hepatic involvement in a child. ( 16354260 )
2005
35
Xanthoma disseminatum: a child with respiratory system involvement and bronchiectasis. ( 15521087 )
2005
36
Xanthoma disseminatum with bilateral epibulbar involvement. ( 15767078 )
2005
37
Treatment of xanthoma disseminatum with cyclophosphamide. ( 14996108 )
2004
38
Xanthoma disseminatum with large plaques confined to the back, pulmonary involvement and multiple intestinal xanthomas. ( 15057010 )
2004
39
Xanthoma disseminatum: case report. ( 15588563 )
2004
40
Xanthoma disseminatum: a rare intracranial mass. ( 12533335 )
2003
41
Xanthoma disseminatum: a rare cause of upper airway narrowing. ( 12646484 )
2003
42
Rare association of xanthoma disseminatum with skeletal involvement. ( 12869044 )
2003
43
Xanthoma disseminatum. ( 12492986 )
2002
44
Bilateral laryngeal pseudoparalysis in xanthoma disseminatum treated by endoscopic laser medial arytenoidectomy. ( 11269772 )
2001
45
Cerebrocutaneous xanthoma disseminatum and disseminated demyelinating encephalomyelitis. ( 10965168 )
2000
46
Xanthoma disseminatum with respiratory tract involvement and fatal outcome. ( 10639538 )
2000
47
Photo quiz. Xanthoma disseminatum. ( 10879300 )
2000
48
Xanthoma disseminatum with multi-system involvement and fatal outcome. ( 10461659 )
1999
49
Treatment of cutaneous lesions of xanthoma disseminatum with a CO2 laser. ( 10594575 )
1999
50
[Xanthoma disseminatum with marked mucocutaneous involvement]. ( 9835892 )
1998

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:

id 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)
id 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 cholesterol efflux GO:0033344 9.48 APOB APOE
10 lipoprotein metabolic process GO:0042157 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:

id Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.37 APOB APOE
2 heparin binding GO:0008201 9.32 APOB APOE
3 phospholipid binding GO:0005543 9.26 APOB APOE
4 lipid transporter activity GO:0005319 9.16 APOB APOE
5 low-density lipoprotein particle receptor binding GO:0050750 8.96 APOB APOE
6 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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