MCID: XNT009
MIFTS: 34

Xanthoma Disseminatum

Categories: Bone diseases, Rare diseases, Skin diseases

Aliases & Classifications for Xanthoma Disseminatum

MalaCards integrated aliases for Xanthoma Disseminatum:

Name: Xanthoma Disseminatum 20 58 54 71
Montgomery Syndrome 20 58

Characteristics:

Orphanet epidemiological data:

58
xanthoma disseminatum
Inheritance: Not applicable;

Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare skin diseases


External Ids:

ICD10 via Orphanet 33 D76.3
UMLS via Orphanet 72 C0043322
Orphanet 58 ORPHA158003
SNOMED-CT via HPO 68 15771004 203522001 30425001
UMLS 71 C0043322

Summaries for Xanthoma Disseminatum

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 158003DefinitionA rare, systemic disease characterized by normolipidemic mucocutaneous xanthomatosis with histiocytic cells proliferation and secondary deposition of lipid in the dermis. Clinically, multiple, grouped, coalescent, yellowish red to brown papulonodular lesions in the skin and mucous membranes are present. Less often internal organs are affected, in particular pituitary gland and/or hypothalamus. Patients present with characteristic mucocutaneous lesions, diabetes insipidus, dysphagia, dyspnea, hoarseness of voice, and blurred vision.Visit the Orphanet disease page for more resources.

MalaCards based summary : Xanthoma Disseminatum, also known as montgomery syndrome, is related to xanthomatosis and hypertriglyceridemia, familial. 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 pituitary and hypothalamus, and related phenotypes are osteolysis 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 83)
# Related Disease Score Top Affiliating Genes
1 xanthomatosis 30.6 APOE APOB
2 hypertriglyceridemia, familial 29.7 APOE APOB
3 histiocytosis 10.8
4 diabetes insipidus 10.7
5 langerhans cell histiocytosis 10.7
6 non-langerhans-cell histiocytosis 10.7
7 juvenile xanthogranuloma 10.3
8 generalized eruptive histiocytosis 10.3
9 amenorrhea 10.2
10 erdheim-chester disease 10.2
11 hypopituitarism 10.2
12 mastocytosis, cutaneous 10.0
13 galactorrhea 10.0
14 myeloma, multiple 10.0
15 3-methylglutaconic aciduria, type iii 10.0
16 pituitary hormone deficiency, combined, 2 10.0
17 mental retardation, skeletal dysplasia, and abducens palsy 10.0
18 kearns-sayre syndrome 10.0
19 yemenite deaf-blind hypopigmentation syndrome 10.0
20 hyperprolactinemia 10.0
21 xerophthalmia 10.0
22 hydrocephalus 10.0
23 respiratory failure 10.0
24 multicentric reticulohistiocytosis 10.0
25 plica syndrome 10.0
26 keratoconjunctivitis sicca 10.0
27 polyneuropathy 10.0
28 urticaria 10.0
29 synovitis 10.0
30 central nervous system disease 10.0
31 temporal lobe epilepsy 10.0
32 fibrosarcoma of bone 10.0
33 plasma cell neoplasm 10.0
34 intestinal obstruction 10.0
35 arthritis 10.0
36 nervous system disease 10.0
37 macroglobulinemia 10.0
38 exophthalmos 10.0
39 bronchiectasis 10.0
40 back pain 10.0
41 defective apolipoprotein b-100 9.8 APOE APOB
42 hypercholesterolemia, familial, 2 9.8 APOE APOB
43 generalized atherosclerosis 9.8 APOE APOB
44 lipoprotein glomerulopathy 9.8 APOE APOB
45 familial lipoprotein lipase deficiency 9.8 APOE APOB
46 familial apolipoprotein c-ii deficiency 9.8 APOE APOB
47 hyperlipoproteinemia, type iv 9.8 APOE APOB
48 hyperlipoproteinemia, type i 9.8 APOE APOB
49 hyperlipoproteinemia, type v 9.8 APOE APOB
50 cerebral atherosclerosis 9.8 APOE APOB

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:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteolysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002797
2 diabetes insipidus 58 31 frequent (33%) Frequent (79-30%) HP:0000873
3 abnormality of the pharynx 58 31 occasional (7.5%) Occasional (29-5%) HP:0000600
4 abnormality of the larynx 58 31 occasional (7.5%) Occasional (29-5%) HP:0001600
5 abnormal bronchus morphology 31 occasional (7.5%) HP:0025426
6 abnormal lip morphology 31 occasional (7.5%) HP:0000159
7 abnormality of the lip 58 Occasional (29-5%)
8 abnormality of the bronchi 58 Occasional (29-5%)

Drugs & Therapeutics for Xanthoma Disseminatum

Search Clinical Trials , NIH Clinical Center for Xanthoma Disseminatum

Genetic Tests for Xanthoma Disseminatum

Anatomical Context for Xanthoma Disseminatum

MalaCards organs/tissues related to Xanthoma Disseminatum:

40
Pituitary, Hypothalamus

Publications for Xanthoma Disseminatum

Articles related to Xanthoma Disseminatum:

(show top 50) (show all 154)
# Title Authors PMID Year
1
Histologic and immunohistochemical study comparing xanthoma disseminatum and histiocytosis X. 54 61
1519935 1992
2
Treatment of Xanthoma Disseminatum With Narrowband UV-B Phototherapy. 61
33237268 2021
3
Xanthoma disseminatum: rare normolipidaemic mucocutaneous xanthomatosis. 61
33145791 2020
4
18F-FDG PET/CT in Xanthoma Disseminatum. 61
32657869 2020
5
Disseminated Xanthosiderohistiocytosis With Monoclonal Gammopathy-A Rare Form of Xanthoma Disseminatum. 61
32520307 2020
6
A Rare Case of Persistent Xanthoma Disseminatum without Any Systemic Involvement. 61
32565577 2020
7
Xanthoma disseminatum with extensive respiratory involvement effectively treated with cladribine: A case report. 61
32500047 2020
8
Corneoscleral xanthogranuloma treated with chemotherapy: The room for nonsurgical management. 61
30813780 2020
9
Xanthoma disseminatum effectively treated with 2-chlorodeoxyadenosin (cladribine): a Chinese case series and mini review of the literature. 61
31591984 2019
10
Generalized eruptive histiocytoma developing into xanthoma disseminatum with central diabetes insipidus. 61
30859591 2019
11
Xanthoma disseminatum with neurological involvement and optic atrophy: improvement with cladribine. 61
31118172 2019
12
Disfiguring Nodular Cephalic Xanthoma Disseminatum: An Exceptional Variant of a Forgotten Entity. 61
30628633 2019
13
Osteoarticular lesion in xanthoma disseminatum treated with total hip arthroplasty: a case report. 61
30832725 2019
14
Xanthoma disseminatum: report of one case. 61
31933837 2019
15
Infiltrative chiasmatopathy in xanthoma disseminatum: a rare entity. 61
30567219 2018
16
Cutaneous and laryngopharyngeal papules of xanthoma disseminatum successfully treated with 2-chlorodeoxyadenosine. 61
30417060 2018
17
Xanthoma disseminatum with rare extensive lesions. 61
29952305 2018
18
Rare diseases of bone: Erdheim-Chester and Rosai-Dorfman non-Langerhans cell histiocytoses. 61
30034819 2018
19
Xanthoma disseminatum. 61
29031846 2018
20
Dermatoscopic features of xanthoma disseminatum. 61
28940376 2017
21
Xanthoma Disseminatum Presenting with Hoarseness. 61
29383319 2017
22
The clinical spectrum of xanthomatous lesions of the eyelids. 61
28500693 2017
23
Cladribine is a promising therapy for xanthoma disseminatum. 61
28544144 2017
24
A case of xanthoma disseminatum treated with imatinib mesylate. 61
28401671 2017
25
Xanthoma Disseminatum in a Young Patient with Diabetes Insipidus. 61
28523884 2017
26
Xanthoma disseminatum: improvement in disfiguring facial lesions with cladribine. 61
26289386 2016
27
Disseminated intracranial xanthoma disseminatum: a rare case report and review of literature. 61
27535029 2016
28
Xanthoma disseminatum with extensive koebnerization associated with familial hypertriglyceridemia. 61
27437441 2016
29
Cerebral and Cutaneous Involvements of Xanthoma Disseminatum Successfully Treated with an Interleukin-1 Receptor Antagonist: A Case Report and Minireview. 61
26741816 2016
30
[Clinicopathological study of non-Langerhans cell histiocytosis in central nervous system]. 61
26674792 2015
31
[Xanthoma disseminatum with asymptomatic multisystem involvement]. 61
25626620 2015
32
Xanthoma disseminatum associated with inflammatory arthritis and synovitis--a rare association. 61
25496014 2015
33
Nonablative 1,450-nm diode laser treatment for xanthoma disseminatum. 61
25357166 2014
34
A case of xanthoma disseminatum: evaluation and monitoring by 18F-fluorodeoxyglucose positron emission tomography/computed tomography. 61
24329687 2014
35
Xanthoma disseminatum: a progressive case with multisystem involvement. 61
24625943 2014
36
Xanthoma disseminatum with tumor-like lesion on face. 61
25161777 2014
37
Xanthoma disseminatum: case report and mini-review of the literature. 61
25102803 2014
38
Intertriginous orange-to-brownish papules and plaques: a quiz. Xanthoma disseminatum. 61
23165822 2013
39
Xanthoma disseminatum: a red herring xanthomatosis. 61
23442474 2013
40
High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. 61
22879539 2012
41
Successful treatment of xanthoma disseminatum with combined lipid lowering agents. 61
22879732 2012
42
Successful treatment of xanthoma disseminatum with simvastatin. 61
21592199 2011
43
Retinal manifestations in a patient with xanthoma disseminatum (non-langerhans cell histiocytosis). 61
21484660 2011
44
Xanthoma disseminatum: effective therapy with 2-chlorodeoxyadenosine in a case series. 61
21173305 2011
45
A case of xanthoma disseminatum with spontaneous resolution over 10 years: review of the literature on long-term follow-up. 61
21613781 2011
46
Xanthoma disseminatum in a pair of blind, deaf male twins. 61
22363847 2011
47
Non-Langerhans cell histiocytosis with isolated CNS involvement: an unusual variant of Erdheim-Chester disease. 61
20337948 2010
48
Xanthoma disseminatum: case report and literature review. 61
20570816 2010
49
A Case of Xanthoma Disseminatum Accentuating over the Eyelids. 61
20711279 2010
50
Xanthoma disseminatum with atypical histochemical features. 61
20236289 2010

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 9.46 APOE APOB
2 blood microparticle GO:0072562 9.43 F13A1 APOE
3 clathrin-coated endocytic vesicle membrane GO:0030669 9.4 APOE APOB
4 high-density lipoprotein particle GO:0034364 9.37 APOE APOB
5 very-low-density lipoprotein particle GO:0034361 9.32 APOE APOB
6 endocytic vesicle lumen GO:0071682 9.26 APOE APOB
7 low-density lipoprotein particle GO:0034362 9.16 APOE APOB
8 chylomicron GO:0042627 8.96 APOE APOB
9 intermediate-density lipoprotein particle GO:0034363 8.62 APOE APOB

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 APOE APOB
2 receptor-mediated endocytosis GO:0006898 9.57 APOE APOB
3 lipid transport GO:0006869 9.56 APOE APOB
4 steroid metabolic process GO:0008202 9.55 APOE APOB
5 cholesterol metabolic process GO:0008203 9.54 APOE APOB
6 cholesterol homeostasis GO:0042632 9.52 APOE APOB
7 retinoid metabolic process GO:0001523 9.51 APOE APOB
8 intermembrane lipid transfer GO:0120009 9.49 APOE APOB
9 artery morphogenesis GO:0048844 9.48 APOE APOB
10 cholesterol efflux GO:0033344 9.46 APOE APOB
11 lipoprotein metabolic process GO:0042157 9.43 APOE APOB
12 low-density lipoprotein particle remodeling GO:0034374 9.4 APOE APOB
13 chylomicron assembly GO:0034378 9.37 APOE APOB
14 chylomicron remodeling GO:0034371 9.32 APOE APOB
15 chylomicron remnant clearance GO:0034382 9.26 APOE APOB
16 very-low-density lipoprotein particle clearance GO:0034447 9.16 APOE APOB
17 lipoprotein catabolic process GO:0042159 8.96 APOE APOB
18 lipoprotein biosynthetic process GO:0042158 8.62 APOE APOB

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 APOE APOB
2 phospholipid binding GO:0005543 9.26 APOE APOB
3 lipid transporter activity GO:0005319 9.16 APOE APOB
4 low-density lipoprotein particle receptor binding GO:0050750 8.96 APOE APOB
5 intermembrane cholesterol transfer activity GO:0120020 8.62 APOE APOB

Sources for Xanthoma Disseminatum

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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