MCID: XNT009
MIFTS: 36

Xanthoma Disseminatum

Categories: Rare diseases, Bone diseases, Skin diseases

Aliases & Classifications for Xanthoma Disseminatum

MalaCards integrated aliases for Xanthoma Disseminatum:

Name: Xanthoma Disseminatum 53 59 55 73
Montgomery Syndrome 53 59

Characteristics:

Orphanet epidemiological data:

59
xanthoma disseminatum
Inheritance: Not applicable;

Classifications:



External Ids:

Orphanet 59 ORPHA158003
UMLS via Orphanet 74 C0043322
ICD10 via Orphanet 34 D76.3
SNOMED-CT via HPO 69 15771004 203522001 30425001
UMLS 73 C0043322

Summaries for Xanthoma Disseminatum

MalaCards based summary : Xanthoma Disseminatum, also known as montgomery syndrome, is related to xanthomatosis and diabetes insipidus. An important gene associated with Xanthoma Disseminatum is F13A1 (Coagulation Factor XIII A Chain), and among its related pathways/superpathways are Folate Metabolism and Metabolism of fat-soluble vitamins. Affiliated tissues include bone and skin, and related phenotypes are abnormality of the pharynx and diabetes insipidus

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)
# Related Disease Score Top Affiliating Genes
1 xanthomatosis 29.8 APOB APOE
2 diabetes insipidus 10.2
3 histiocytosis 10.2
4 hepatitis 10.1
5 aspirin resistance 10.1 APOB F13A1
6 myeloma, multiple 10.0
7 hypopituitarism 10.0
8 langerhans cell histiocytosis 10.0
9 bronchiectasis 10.0
10 arthritis 10.0
11 maculopapular cutaneous mastocytosis 10.0
12 generalized eruptive histiocytosis 10.0
13 urticaria pigmentosa 10.0
14 urticaria 10.0
15 synovitis 10.0
16 cerebritis 10.0
17 laryngitis 10.0
18 retinitis 10.0
19 histiocytoma 10.0
20 non-langerhans-cell histiocytosis 10.0
21 juvenile xanthogranuloma 10.0
22 macroglobulinemia 10.0
23 hypercholesterolemia, autosomal dominant, type b 9.7 APOB APOE
24 defective apolipoprotein b-100 9.7 APOB APOE
25 lipoprotein glomerulopathy 9.7 APOB APOE
26 leukodystrophy, hypomyelinating, 3 9.7 APOB APOE
27 schnyder corneal dystrophy 9.7 APOB APOE
28 hyperlipidemia, familial combined 9.7 APOB APOE
29 hypobetalipoproteinemia, familial, 1 9.7 APOB APOE
30 homozygous familial hypercholesterolemia 9.7 APOB APOE
31 hyperlipoproteinemia, type iv 9.7 APOB APOE
32 ischemic heart disease 9.7 APOB APOE
33 hypolipoproteinemia 9.7 APOB APOE
34 hyperlipoproteinemia, type iii 9.6 APOB APOE
35 arcus corneae 9.6 APOB APOE
36 hyperalphalipoproteinemia 1 9.6 APOB APOE
37 abetalipoproteinemia 9.6 APOB APOE
38 coronary stenosis 9.6 APOB APOE
39 carotid artery disease 9.6 APOB APOE
40 lecithin:cholesterol acyltransferase deficiency 9.6 APOB APOE
41 coronary heart disease 1 9.6 APOB APOE
42 familial hyperlipidemia 9.6 APOB APOE
43 gallbladder disease 9.5 APOB APOE
44 tangier disease 9.5 APOB APOE
45 lipid metabolism disorder 9.5 APOB APOE
46 arteries, anomalies of 9.5 APOB APOE
47 atherosclerosis susceptibility 9.5 APOB APOE
48 arteriosclerosis 9.4 APOB APOE
49 cerebrovascular disease 9.4 APOB APOE
50 hypercholesterolemia, familial 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:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the pharynx 59 32 occasional (7.5%) Occasional (29-5%) HP:0000600
2 diabetes insipidus 59 32 frequent (33%) Frequent (79-30%) HP:0000873
3 abnormality of the larynx 59 32 occasional (7.5%) Occasional (29-5%) HP:0001600
4 osteolysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002797
5 abnormality of the lip 59 Occasional (29-5%)
6 abnormality of the bronchi 59 Occasional (29-5%)
7 abnormal lip morphology 32 occasional (7.5%) HP:0000159
8 abnormal bronchus morphology 32 occasional (7.5%) HP:0025426

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

26
# 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:

41
Bone, Skin

Publications for Xanthoma Disseminatum

Articles related to Xanthoma Disseminatum:

(show top 50) (show all 95)
# Title Authors Year
1
Xanthoma disseminatum with rare extensive lesions. ( 29952305 )
2018
2
A case of xanthoma disseminatum treated with imatinib mesylate. ( 28401671 )
2017
3
Dermatoscopic features of xanthoma disseminatum. ( 28940376 )
2017
4
Xanthoma Disseminatum Presenting with Hoarseness. ( 29383319 )
2017
5
Xanthoma Disseminatum in a Young Patient with Diabetes Insipidus. ( 28523884 )
2017
6
Cladribine is a promising therapy for xanthoma disseminatum. ( 28544144 )
2017
7
Xanthoma disseminatum. ( 29031846 )
2017
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
Cerebral and Cutaneous Involvements of Xanthoma Disseminatum Successfully Treated with an Interleukin-1 Receptor Antagonist: A Case Report and Minireview. ( 26741816 )
2016
11
Xanthoma disseminatum: improvement in disfiguring facial lesions with cladribine. ( 26289386 )
2015
12
Xanthoma disseminatum associated with inflammatory arthritis and synovitis--a rare association. ( 25496014 )
2015
13
Xanthoma disseminatum with tumor-like lesion on face. ( 25161777 )
2014
14
Nonablative 1,450-nm Diode Laser Treatment for Xanthoma Disseminatum. ( 25357166 )
2014
15
Xanthoma disseminatum: a progressive case with multisystem involvement. ( 24625943 )
2014
16
Xanthoma disseminatum: case report and mini-review of the literature. ( 25102803 )
2014
17
A Case of Xanthoma Disseminatum: Evaluation and Monitoring by (18) F-fluorodeoxyglucose (FDG) PET/CT. ( 24329687 )
2013
18
Xanthoma disseminatum: a red herring xanthomatosis. ( 23442474 )
2013
19
Intertriginous orange-to-brownish papules and plaques: a quiz. Xanthoma disseminatum. ( 23165822 )
2013
20
Successful treatment of xanthoma disseminatum with combined lipid lowering agents. ( 22879732 )
2012
21
Retinal manifestations in a patient with xanthoma disseminatum (non-langerhans cell histiocytosis). ( 21484660 )
2011
22
Successful treatment of xanthoma disseminatum with simvastatin. ( 21592199 )
2011
23
Xanthoma disseminatum: effective therapy with 2-chlorodeoxyadenosine in a case series. ( 21173305 )
2011
24
Xanthoma disseminatum in a pair of blind, deaf male twins. ( 22363847 )
2011
25
A case of xanthoma disseminatum with spontaneous resolution over 10 years: review of the literature on long-term follow-up. ( 21613781 )
2011
26
Xanthoma disseminatum: case report and literature review. ( 20570816 )
2010
27
A Case of Xanthoma Disseminatum Accentuating over the Eyelids. ( 20711279 )
2010
28
Xanthoma disseminatum with intracranial involvement: case report and literature review. ( 20465646 )
2010
29
Xanthoma disseminatum with atypical histochemical features. ( 20236289 )
2010
30
Xanthoma disseminatum with koebnerized pearly penile lesions in an Indian man. ( 19702989 )
2009
31
Inflammation and lipid accumulation in xanthoma disseminatum: Therapeutic considerations. ( 18191707 )
2008
32
Xanthoma disseminatum in a black African woman. ( 18986445 )
2008
33
Xanthoma disseminatum in a child with cranial bone involvement. ( 18391701 )
2008
34
Xanthoma disseminatum of the central nervous system and cranium. ( 16611791 )
2006
35
Xanthoma disseminatum: a child with respiratory system involvement and bronchiectasis. ( 15521087 )
2005
36
Xanthoma disseminatum: a case report and literature review. ( 15681329 )
2005
37
Xanthoma disseminatum with bilateral epibulbar involvement. ( 15767078 )
2005
38
Hypopituitarism and rare dermatological diseases: an intriguing case of xanthoma disseminatum. ( 15963073 )
2005
39
Xanthoma disseminatum with hepatic involvement in a child. ( 16354260 )
2005
40
Xanthoma disseminatum: case report. ( 15588563 )
2004
41
Xanthoma disseminatum with large plaques confined to the back, pulmonary involvement and multiple intestinal xanthomas. ( 15057010 )
2004
42
Treatment of xanthoma disseminatum with cyclophosphamide. ( 14996108 )
2004
43
Xanthoma disseminatum: a rare cause of upper airway narrowing. ( 12646484 )
2003
44
Rare association of xanthoma disseminatum with skeletal involvement. ( 12869044 )
2003
45
Xanthoma disseminatum: a rare intracranial mass. ( 12533335 )
2003
46
Xanthoma disseminatum. ( 12492986 )
2002
47
Bilateral laryngeal pseudoparalysis in xanthoma disseminatum treated by endoscopic laser medial arytenoidectomy. ( 11269772 )
2001
48
Photo quiz. Xanthoma disseminatum. ( 10879300 )
2000
49
Cerebrocutaneous xanthoma disseminatum and disseminated demyelinating encephalomyelitis. ( 10965168 )
2000
50
Xanthoma disseminatum with respiratory tract involvement and fatal outcome. ( 10639538 )
2000

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 endoplasmic reticulum lumen GO:0005788 9.46 APOB APOE
2 early endosome GO:0005769 9.43 APOB APOE
3 blood microparticle GO:0072562 9.4 APOE F13A1
4 clathrin-coated endocytic vesicle membrane GO:0030669 9.37 APOB APOE
5 very-low-density lipoprotein particle GO:0034361 9.32 APOB APOE
6 endocytic vesicle lumen GO:0071682 9.26 APOB APOE
7 low-density lipoprotein particle GO:0034362 9.16 APOB APOE
8 chylomicron GO:0042627 8.96 APOB APOE
9 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 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:

# 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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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