MCID: XNT009
MIFTS: 34

Xanthoma Disseminatum malady

Categories: Rare diseases, Bone diseases, Skin diseases

Aliases & Classifications for Xanthoma Disseminatum

Aliases & Descriptions 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 hypertriglyceridemia and xanthomatosis, and has symptoms including abnormality of the lip, abnormality of the pharynx and diabetes insipidus. An important gene associated with Xanthoma Disseminatum is APOB (Apolipoprotein B), and among its related pathways/superpathways are Folate Metabolism and Metabolism of fat-soluble vitamins. Affiliated tissues include bone and skin, and related phenotype is Decreased free cholesterol.

Wikipedia : 71 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 52)
id Related Disease Score Top Affiliating Genes
1 hypertriglyceridemia 29.7 APOB APOE
2 xanthomatosis 10.1
3 histiocytosis 10.1
4 diabetes insipidus 10.0
5 hepatitis 10.0
6 keratoconus 4 10.0 APOB APOE
7 dentinogenesis imperfecta type 2 10.0 APOB APOE
8 albinism, oculocutaneous, type v 10.0 APOB APOE
9 alzheimer disease 19, late onset 10.0 APOB APOE
10 severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome 9.9 APOB APOE
11 cetp-related hyperalphalipoproteinemia 9.9 APOB APOE
12 hypercholesterolemia, due to ligand-defective apo b 9.9 APOB APOE
13 joint disorders 9.9 APOB APOE
14 bird fancier's lung 9.9 APOB APOE
15 skin squamous cell carcinoma 9.9 APOB APOE
16 chondrocalcinosis with early-onset osteoarthritis 9.9 APOB APOE
17 stone in bladder diverticulum 9.9 APOB APOE
18 primary pigmented nodular adrenocortical disease 9.9 APOB APOE
19 gait apraxia 9.9 APOB APOE
20 von willebrand disease, platelet-type 9.9 APOB APOE
21 bleeding disorder, east texas type 9.9 APOB APOE
22 mannosidosis, beta 9.9 APOB APOE
23 optic nerve neoplasm 9.9 APOB APOE
24 neuropathy, hereditary sensory and autonomic, type ia 9.9 APOB APOE
25 cataract 5, multiple types 9.9 APOB APOE
26 acute apical periodontitis 9.9 APOB APOE
27 lipomatosis 9.9 APOB APOE
28 immunodeficiency 18 9.9 APOB APOE
29 cervix small cell carcinoma 9.9 APOB APOE
30 laryngitis 9.9
31 retinitis 9.9
32 histiocytoma 9.9
33 non-langerhans-cell histiocytosis 9.9
34 juvenile xanthogranuloma 9.9
35 macroglobulinemia 9.9
36 multiple myeloma 9.9
37 hypopituitarism 9.9
38 arthritis 9.9
39 bronchiectasis 9.9
40 urticaria pigmentosa 9.9
41 urticaria 9.9
42 synovitis 9.9
43 cerebritis 9.9
44 myelophthisic anemia 9.9 APOB APOE
45 narcolepsy 6 9.8 APOB APOE
46 budd-chiari syndrome 9.8 APOB APOE
47 pyrimidine metabolic disorder 9.8 APOB APOE
48 macular degeneration, age-related, 12 9.8 APOB APOE
49 autoimmune-related retinopathy and optic neuropathy 9.8 APOB APOE
50 zap-70 deficiency 9.8 APOB APOE F13A1

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 (29-5%) HP:0000159
2 abnormality of the pharynx 56 32 Occasional (29-5%) HP:0000600
3 diabetes insipidus 56 32 Frequent (79-30%) HP:0000873
4 abnormality of the larynx 56 32 Occasional (29-5%) HP:0001600
5 abnormality of the bronchi 56 32 Occasional (29-5%) HP:0002109
6 osteolysis 56 32 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 APOB APOE

Drugs & Therapeutics for Xanthoma Disseminatum

Interventional clinical trials:


id Name Status NCT ID Phase
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 88)
id Title Authors Year
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

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 lipoprotein metabolic process GO:0042157 9.49 APOB APOE
9 triglyceride catabolic process GO:0019433 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 lipoprotein biosynthetic process GO:0042158 9.37 APOB APOE
14 chylomicron assembly GO:0034378 9.32 APOB APOE
15 chylomicron remodeling GO:0034371 9.26 APOB APOE
16 chylomicron remnant clearance GO:0034382 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 cholesterol transporter activity GO:0017127 8.96 APOB APOE
6 low-density lipoprotein particle receptor binding GO:0050750 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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