MCID: XNT003
MIFTS: 48

Xanthomatosis

Categories: Genetic diseases, Metabolic diseases

Aliases & Classifications for Xanthomatosis

MalaCards integrated aliases for Xanthomatosis:

Name: Xanthomatosis 57 12 55 44 15 72
Xanthomatosis, Susceptibility to 57
Xanthelasmatosis 12

Characteristics:

OMIM:

57
Inheritance:
? autosomal dominant


HPO:

32
xanthomatosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:3345
OMIM 57 602247
MeSH 44 D014973
SNOMED-CT 68 63103006
MedGen 42 C1865704
UMLS 72 C0043325

Summaries for Xanthomatosis

Disease Ontology : 12 A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts.

MalaCards based summary : Xanthomatosis, also known as xanthomatosis, susceptibility to, is related to cerebrotendinous xanthomatosis and xanthoma disseminatum, and has symptoms including macule An important gene associated with Xanthomatosis is CYP27A1 (Cytochrome P450 Family 27 Subfamily A Member 1), and among its related pathways/superpathways are Metabolism and Vesicle-mediated transport. The drugs Lovastatin and L 647318 have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and liver, and related phenotypes are hypercholesterolemia and xanthomatosis

Wikipedia : 75 A xanthoma (pl. xanthomas or xanthomata) (condition: xanthomatosis), from Greek I??I?I,IOI, (xanthA3s),... more...

More information from OMIM: 602247

Related Diseases for Xanthomatosis

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

(show top 50) (show all 296)
# Related Disease Score Top Affiliating Genes
1 cerebrotendinous xanthomatosis 33.1 VCL NR1I2 NR1H4 HMGCR CYP7A1 CYP27A1
2 xanthoma disseminatum 33.1 APOE APOB
3 sitosterolemia 32.3 HMGCR CYP7A1 CYP27A1 APOB
4 hyperlipoproteinemia, type iii 30.9 LPL LDLR HMGCR APOE APOB
5 arteriosclerosis 30.5 HMGCR APOE APOB
6 atherosclerosis susceptibility 30.3 LDLR APOE APOB
7 cholestasis 30.3 NR1I2 NR1H4 CYP7A1
8 arteries, anomalies of 30.0 LDLR APOE APOB
9 coronary artery anomaly 29.7 LPL HMGCR APOB
10 hypolipoproteinemia 29.7 LPL APOE APOB
11 hypertriglyceridemia, familial 29.7 LPL APOE APOB
12 smith-lemli-opitz syndrome 29.6 LDLR HMGCR APOE
13 hyperlipoproteinemia, type v 29.4 LPL HMGCR APOE APOB
14 myocardial infarction 29.0 LDLR HMGCR APOE APOB
15 heart disease 28.8 LPL LDLR APOE APOB
16 coronary heart disease 1 28.7 LPL LDLR HMGCR APOE APOB
17 homozygous familial hypercholesterolemia 28.5 LDLRAP1 LDLR HMGCR APOE APOB
18 vascular disease 28.5 LPL LDLR HMGCR APOE APOB
19 hyperalphalipoproteinemia 1 28.4 LPL LDLR APOE APOB
20 familial hyperlipidemia 28.4 LPL LDLR HMGCR APOE APOB
21 lipid metabolism disorder 28.4 LPL LDLR HMGCR APOE APOB
22 diabetes mellitus, noninsulin-dependent 28.3 LPL HMGCR APOE APOB
23 lysosomal acid lipase deficiency 11.9
24 hypercholesterolemia, familial, 1 11.7
25 familial hypercholesterolemia 11.6
26 leukodystrophy 11.6
27 hypercholesterolemia, familial, 4 11.2
28 familial lipoprotein lipase deficiency 11.2
29 cataract 10.8
30 ataxia and polyneuropathy, adult-onset 10.6
31 lipid storage disease 10.6
32 neuropathy 10.5
33 peripheral nervous system disease 10.5
34 diarrhea 10.5
35 aceruloplasminemia 10.5
36 autosomal recessive disease 10.5
37 bile acid synthesis defect, congenital, 3 10.4 NR1H4 CYP27A1
38 huntington disease-like 1 10.4 APOE APOB
39 leukodystrophy, hypomyelinating, 3 10.4 APOE APOB
40 liver cirrhosis 10.4
41 schnyder corneal dystrophy 10.4 APOE APOB
42 myeloma, multiple 10.3
43 polyneuropathy 10.3
44 diabetes mellitus 10.3
45 diabetes insipidus 10.3
46 cholestasis, progressive familial intrahepatic, 5 10.3 NR1I2 NR1H4
47 lysosomal and lipase deficiency 10.2 LDLRAP1 APOB
48 spastic paraparesis 10.2
49 spasticity 10.2
50 histiocytosis 10.2

Graphical network of the top 20 diseases related to Xanthomatosis:



Diseases related to Xanthomatosis

Symptoms & Phenotypes for Xanthomatosis

Human phenotypes related to Xanthomatosis:

32
# Description HPO Frequency HPO Source Accession
1 hypercholesterolemia 32 HP:0003124
2 xanthomatosis 32 HP:0000991

Symptoms via clinical synopsis from OMIM:

57
Skin:
giant xanthomas

Misc:
manifest in familial hypercholesterolemia

Clinical features from OMIM:

602247

UMLS symptoms related to Xanthomatosis:


macule

GenomeRNAi Phenotypes related to Xanthomatosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.43 APOB APOE HMGCR LDLR LDLRAP1 LPL
2 Increased LDL uptake GR00340-A-1 8.8 APOE LDLR LPL

MGI Mouse Phenotypes related to Xanthomatosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.97 APOB APOE CYP27A1 LDLR LPL MSR1
2 homeostasis/metabolism MP:0005376 9.9 APOB APOE CYP27A1 CYP7A1 HMGCR LDLR
3 growth/size/body region MP:0005378 9.86 APOB APOE CYP7A1 HMGCR LDLR LPL
4 digestive/alimentary MP:0005381 9.8 APOE CYP27A1 CYP7A1 LDLR NR1H4 VCL
5 liver/biliary system MP:0005370 9.61 APOB APOE CYP27A1 CYP7A1 HMGCR LDLR
6 mortality/aging MP:0010768 9.32 APOB APOE CYP7A1 HMGCR LDLR LPL

Drugs & Therapeutics for Xanthomatosis

Drugs for Xanthomatosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
2 L 647318 Phase 2
3 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
4 Dihydromevinolin Phase 2
5 Lipid Regulating Agents Phase 2
6 Hypolipidemic Agents Phase 2
7 Anticholesteremic Agents Phase 2
8 Antimetabolites Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effects of Diet and Medication in Patients With Cerebrotendinous Xanthomatosis (CTX) Unknown status NCT00004346 Phase 2 chenodeoxycholic acid;lovastatin
2 Evaluation of Carotid IMT and Atherogenic Risk Factors in Patients With Cerebrotendinous Xanthomatosis Unknown status NCT01613898
3 Effects of LDL Apheresis System on the Expression of Genes Involved in Lipoprotein Metabolism and Inflammation in Homozygotes for Familial Hypercholesterolemia Completed NCT02462655
4 An Observational, Multicenter Study of the Prevalence of Cerebrotendinous Xanthomatosis (CTX) in Patient Populations Diagnosed With Early-Onset Idiopathic Bilateral Cataracts Recruiting NCT02638220
5 An Observational Study With Retrospective and Prospective Evaluations to Determine the Prevalence of Cerebrotendinous Xanthomatosis (CTX) Disorder in Juvenile Cataract Cases in Turkey Recruiting NCT03584893
6 International Rare Histiocytic Disorders Registry (IRHDR) Recruiting NCT02285582
7 Relationships Between Lipoprotein(a) Levels and Aortic Valve Calcification in Patients With Heterozygous Familial Hypercholesterolemia Active, not recruiting NCT02976818
8 Biologic Significance of Cholestanol in Man Withdrawn NCT00018694 Chenodeoxycholic Acid

Search NIH Clinical Center for Xanthomatosis

Cochrane evidence based reviews: xanthomatosis

Genetic Tests for Xanthomatosis

Anatomical Context for Xanthomatosis

MalaCards organs/tissues related to Xanthomatosis:

41
Skin, Bone, Liver, Brain, Testes, Heart, Lung

Publications for Xanthomatosis

Articles related to Xanthomatosis:

(show top 50) (show all 1562)
# Title Authors PMID Year
1
A xanthomatosis-susceptibility gene may exist in a Syrian family with familial hypercholesterolemia. 38 8
9412789 1997
2
Alipogene tiparvovec, an adeno-associated virus encoding the Ser(447)X variant of the human lipoprotein lipase gene for the treatment of patients with lipoprotein lipase deficiency. 9 38
20072945 2009
3
Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia. 9 38
16183066 2006
4
A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia. 9 38
15599766 2005
5
Molecular mechanisms of autosomal recessive hypercholesterolemia. 9 38
12642779 2003
6
Increased atherosclerosis in hyperlipidemic mice with inactivation of ABCA1 in macrophages. 9 38
11950702 2002
7
Pathophysiology of apolipoprotein E deficiency in mice: relevance to apo E-related disorders in humans. 9 38
11726538 2001
8
Identification of a gamma-interferon-responsive element in the promoter of the human macrophage scavenger receptor A gene. 9 38
11348881 2001
9
Concentrations of the atherogenic Lp(a) are elevated in FH. 9 38
9781014 1998
10
[Pregnancy in patient with familial hypercholesterolemia and atherosclerosis disease]. 9 38
9435357 1997
11
Severe xanthomatosis associated with familial apolipoprotein E deficiency. 9 38
9038735 1996
12
Characterization of a novel variant of apolipoprotein E, E2 Fukuoka (Arg-224 --> Gln) in a hyperlipidemic patient with xanthomatosis. 9 38
8664327 1996
13
Cholic acid as a treatment for cerebrotendinous xanthomatosis in adults. 38
31115677 2019
14
Diffuse gastric xanthomatosis. 38
31401362 2019
15
Diffuse plane normolipaemic xanthomatosis as a manifestation of monoclonal gammopathy. 38
31407310 2019
16
Chenodeoxycholic Acid: An Update on Its Therapeutic Applications. 38
31267167 2019
17
Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia. 38
27460185 2019
18
Cerebrotendinous xanthomatosis: The diagnostic challenge. 38
29980286 2019
19
Diagnostic challenge: A case of late-onset spinal form cerebrotendinous xanthomatosis. 38
30804055 2019
20
Additional pathways of sterol metabolism: Evidence from analysis of Cyp27a1-/- mouse brain and plasma. 38
30471425 2019
21
Segmental Xanthomatosis of the Ileum. 38
29366929 2019
22
Evaluation of the effect of chenodeoxycholic acid treatment on skeletal system findings in patients with cerebrotendinous xanthomatosis. 38
31384146 2019
23
Optic Neuropathy with Features Suggestive of Optic Neuritis in Cerebrotendinous Xanthomatosis. 38
30891321 2019
24
Usefulness of brain magnetic resonance in the diagnosis of cerebrotendinous xanthomatosis. 38
29599059 2019
25
Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start. 38
30530799 2019
26
Cerebrotendinous xanthomatosis: The rare "treatable" disease you never consider. 38
30530794 2019
27
Movement disorders in cerebrotendinous xanthomatosis. 38
30054180 2019
28
Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms? 38
31231294 2019
29
Xanthomatous meningioma: A metaplastic or degenerative phenomenon? 38
30187570 2018
30
Inflammasome Activation Aggravates Cutaneous Xanthomatosis and Atherosclerosis in ACAT1 (Acyl-CoA Cholesterol Acyltransferase 1) Deficiency in Bone Marrow. 38
30354239 2018
31
Cerebrotendinous xanthomatosis presenting with extensive cerebral cortex symptoms: A case report. 38
30278298 2018
32
Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment. 38
30135217 2018
33
Halo formations around senile hemangiomas in diffuse plane normolipemic xanthomatosis associated with monoclonal gammopathy. 38
30456279 2018
34
Cytological diagnosis of cerebrotendinous xanthomatosis in two siblings presenting with bilateral ankle swellings and neurological decline. 38
29737592 2018
35
Identification of 7α,24-dihydroxy-3-oxocholest-4-en-26-oic and 7α,25-dihydroxy-3-oxocholest-4-en-26-oic acids in human cerebrospinal fluid and plasma. 38
29960034 2018
36
Psychiatric Disorders Secondary to Neurometabolic Disorders. 38
30286847 2018
37
Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes. 38
29560583 2018
38
Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis. 38
30017468 2018
39
Liver transplantation due to cerebrotendinous xanthomatosis end-stage liver disease. 38
29796951 2018
40
Cerebrotendinous Xanthomatosis ataxia responsive to CDCA and Riluzole. 38
29731275 2018
41
Natural history of neurological abnormalities in cerebrotendinous xanthomatosis. 38
29484516 2018
42
Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis. 38
28894950 2018
43
Severe xanthomatosis in heterozygous familial hypercholesterolemia. 38
29778561 2018
44
Fox-Fordyce disease: report of two cases with perifollicular xanthomatosis on histological image. 38
30066765 2018
45
Cerebrotendinous Xanthomatosis with Nodular-hypertrophy of the Lumbosacral Roots. 38
29321402 2018
46
[Determination and hierarchy of clinical signs for early detection of cerebrotendinous xanthomatosis]. 38
30148906 2018
47
Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene. 38
29434128 2018
48
Identification of unusual oxysterols and bile acids with 7-oxo or 3β,5α,6β-trihydroxy functions in human plasma by charge-tagging mass spectrometry with multistage fragmentation. 38
29626102 2018
49
Unique case of cerebrotendinous xanthomatosis revisited: All the mutations responsible for this disease are present in the CYP27A1 gene. 38
29095540 2018
50
Prominent Tendon Xanthomas and Abdominal Aortic Aneurysm Associated with Cerebrotendinous Xanthomatosis Identified Using Whole Exome Sequencing. 38
29269672 2018

Variations for Xanthomatosis

Expression for Xanthomatosis

Search GEO for disease gene expression data for Xanthomatosis.

Pathways for Xanthomatosis

Pathways related to Xanthomatosis according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.78 NR1H4 LPL LDLRAP1 LDLR HMGCR CYP7A1
2
Show member pathways
13.09 MSR1 LDLRAP1 LDLR APOE APOB
3
Show member pathways
12.63 NR1H4 LPL HMGCR CYP7A1
4
Show member pathways
12.42 LPL LDLR APOE APOB
5
Show member pathways
12.19 LPL LDLRAP1 LDLR APOE APOB
6
Show member pathways
12.13 LDLRAP1 LDLR APOB
7
Show member pathways
12.08 LDLR APOE APOB
8
Show member pathways
12.04 LPL LDLR APOE APOB
9
Show member pathways
11.97 NR1H4 CYP7A1 CYP27A1
10
Show member pathways
11.69 MSR1 APOE APOB
11 11.51 LPL CYP7A1 CYP27A1
12 11.47 LPL LDLR HMGCR
13
Show member pathways
11.3 LPL LDLRAP1 LDLR HMGCR CYP7A1 CYP27A1
14 11.13 NR1I2 HMGCR
15 11.11 NR1H4 LDLR HMGCR CYP7A1
16 11.09 NR1I2 NR1H4 CYP7A1
17 11 MSR1 LDLR APOE
18 10.82 LDLR HMGCR
19 10.8 NR1H4 CYP7A1
20 10.56 NR1I2 NR1H4 CYP7A1

GO Terms for Xanthomatosis

Cellular components related to Xanthomatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 early endosome GO:0005769 9.67 LDLRAP1 LDLR APOE APOB
2 clathrin-coated endocytic vesicle membrane GO:0030669 9.43 LDLR APOE APOB
3 endocytic vesicle lumen GO:0071682 9.4 APOE APOB
4 very-low-density lipoprotein particle GO:0034361 9.33 LPL APOE APOB
5 intermediate-density lipoprotein particle GO:0034363 9.32 APOE APOB
6 chylomicron GO:0042627 9.13 LPL APOE APOB
7 low-density lipoprotein particle GO:0034362 8.92 MSR1 LDLR APOE APOB

Biological processes related to Xanthomatosis according to GeneCards Suite gene sharing:

(show all 48)
# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.88 MSR1 LDLRAP1 LDLR APOE APOB
2 endocytosis GO:0006897 9.86 MSR1 LDLRAP1 LDLR
3 lipid metabolic process GO:0006629 9.86 NR1H4 LPL LDLRAP1 LDLR HMGCR CYP7A1
4 lipid transport GO:0006869 9.83 LDLR APOE APOB
5 membrane organization GO:0061024 9.83 LDLRAP1 LDLR APOB
6 triglyceride homeostasis GO:0070328 9.73 NR1H4 LPL APOE
7 triglyceride catabolic process GO:0019433 9.72 LPL APOE APOB
8 low-density lipoprotein particle clearance GO:0034383 9.71 LDLRAP1 LDLR APOB
9 cholesterol biosynthetic process GO:0006695 9.7 HMGCR APOE
10 negative regulation of MAP kinase activity GO:0043407 9.7 HMGCR APOE
11 intracellular receptor signaling pathway GO:0030522 9.7 NR1I2 NR1H4
12 lipid homeostasis GO:0055088 9.7 NR1H4 APOE
13 lipoprotein metabolic process GO:0042157 9.7 LDLR APOE APOB
14 triglyceride metabolic process GO:0006641 9.69 LPL APOE
15 regulation of cholesterol biosynthetic process GO:0045540 9.69 HMGCR APOB
16 long-term memory GO:0007616 9.69 LDLR APOE
17 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.69 MSR1 LPL APOB
18 bile acid biosynthetic process GO:0006699 9.68 CYP7A1 CYP27A1
19 sterol metabolic process GO:0016125 9.68 CYP7A1 CYP27A1
20 cellular response to fatty acid GO:0071398 9.68 NR1H4 LDLR
21 lipoprotein transport GO:0042953 9.67 MSR1 APOB
22 cholesterol efflux GO:0033344 9.67 APOE APOB
23 regulation of cholesterol metabolic process GO:0090181 9.67 NR1H4 LDLR APOE
24 cholesterol transport GO:0030301 9.67 MSR1 LDLRAP1 LDLR APOB
25 artery morphogenesis GO:0048844 9.66 APOE APOB
26 fatty acid homeostasis GO:0055089 9.65 NR1H4 APOE
27 low-density lipoprotein particle remodeling GO:0034374 9.65 APOE APOB
28 regulation of protein metabolic process GO:0051246 9.64 LDLR APOE
29 cholesterol catabolic process GO:0006707 9.64 CYP7A1 APOE
30 amyloid-beta clearance GO:0097242 9.63 MSR1 LDLR
31 amyloid precursor protein metabolic process GO:0042982 9.63 LDLRAP1 APOE
32 chylomicron remodeling GO:0034371 9.63 LPL APOE APOB
33 cholesterol metabolic process GO:0008203 9.63 LDLRAP1 LDLR HMGCR CYP7A1 APOE APOB
34 high-density lipoprotein particle clearance GO:0034384 9.62 LDLR APOE
35 chylomicron assembly GO:0034378 9.62 APOE APOB
36 very-low-density lipoprotein particle remodeling GO:0034372 9.61 LPL APOE
37 very-low-density lipoprotein particle clearance GO:0034447 9.61 APOE APOB
38 chylomicron remnant clearance GO:0034382 9.61 LDLR APOE APOB
39 lipoprotein biosynthetic process GO:0042158 9.6 APOE APOB
40 regulation of bile acid biosynthetic process GO:0070857 9.59 NR1H4 CYP7A1
41 receptor-mediated endocytosis involved in cholesterol transport GO:0090118 9.58 LDLRAP1 LDLR
42 plasma lipoprotein particle clearance GO:0034381 9.58 MSR1 LDLR
43 positive regulation of cholesterol storage GO:0010886 9.58 MSR1 LPL APOB
44 response to caloric restriction GO:0061771 9.57 LDLR APOE
45 lipoprotein catabolic process GO:0042159 9.5 LDLR APOE APOB
46 steroid metabolic process GO:0008202 9.5 NR1I2 LDLRAP1 LDLR HMGCR CYP7A1 APOE
47 positive regulation of endocytosis GO:0045807 9.37 APOE
48 cholesterol homeostasis GO:0042632 9.17 NR1H4 LPL LDLRAP1 LDLR CYP7A1 APOE

Molecular functions related to Xanthomatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.5 LPL APOE APOB
2 lipid transporter activity GO:0005319 9.37 APOE APOB
3 cholesterol transporter activity GO:0017127 9.26 APOE APOB
4 low-density lipoprotein particle binding GO:0030169 9.16 MSR1 LDLR
5 low-density lipoprotein particle receptor binding GO:0050750 9.13 LDLRAP1 APOE APOB
6 amyloid-beta binding GO:0001540 8.92 MSR1 LDLRAP1 LDLR APOE

Sources for Xanthomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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