Aliases & Classifications for Xanthomatosis

MalaCards integrated aliases for Xanthomatosis:

Name: Xanthomatosis 12 29 52 42 14 69
Xanthelasmatosis 12

Classifications:



External Ids:

Disease Ontology 12 DOID:3345
MeSH 42 D014973
SNOMED-CT 64 63103006
SNOMED-CT via HPO 65 63103006 13644009 166830008
UMLS 69 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 xanthelasmatosis, is related to sitosterolemia and arthritis, and has symptoms including hypercholesterolemia and 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 Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The drugs Probucol and Anticholesteremic Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and testes, and related phenotypes are Decreased free cholesterol and Increased LDL uptake

Related Diseases for Xanthomatosis

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

(show top 50) (show all 142)
id Related Disease Score Top Affiliating Genes
1 sitosterolemia 30.2 APOB CYP27A1 CYP7A1 HMGCR
2 arthritis 28.9 APOE LDLR LPA
3 myocardial infarction 27.6 APOB APOE HMGCR LDLR LPA
4 cerebrotendinous xanthomatosis 12.4
5 wolman disease 11.5
6 leukodystrophy 11.2
7 hypercholesterolemia, familial 10.8
8 hyperlipoproteinemia, type iii 10.8
9 familial lipoprotein lipase deficiency 10.8
10 xk aprosencephaly 10.3 APOB APOE
11 dental anomalies and short stature 10.1 APOB HMGCR LPA
12 cataract, autosomal dominant congenital 4 10.1 APOB APOE
13 orbital cancer 10.1 CYP7A1 NR1H4 NR1I2
14 hemorrhoid 10.1 CYP7A1 NR1H4 NR1I2
15 retinal arteries, tortuosity of 10.0 APOE HMGCR
16 cataract 10.0
17 hypercholesterolemia, familial, autosomal recessive 10.0 LDLR LDLRAP1
18 eclampsia 10.0 CYP7A1 NR1H4 NR1I2
19 migraine with or without aura 1 10.0 APOB APOE LPA
20 atherosclerosis 9.9
21 candidal paronychia 9.9 APOB LDLRAP1
22 dermatomyositis 9.9 APOE CYP7A1 NR1H4
23 glossopharyngeal nerve disease 9.9 APOB APOE LPA
24 abducens nerve neoplasm 9.9 APOB LPL
25 obesity, hyperphagia, and developmental delay 9.8 APOB APOE LPA
26 tendinitis 9.8
27 hepatitis 9.8
28 neuropathy 9.8
29 ataxia 9.8
30 hypercholesterolemia, due to ligand-defective apo b 9.8 APOB APOE LDLR
31 osteoporosis 9.8
32 multiple myeloma 9.8
33 mycosis fungoides 9.8
34 lymphoma 9.8
35 dementia 9.8
36 diarrhea 9.8
37 fox-fordyce disease 9.8
38 polyneuropathy 9.8
39 cerebritis 9.8
40 hypobetalipoproteinemia 9.8 APOB APOE LDLR
41 hemochromatosis, type 5 9.8 APOE HMGCR LDLR
42 immunodeficiency 19 9.7 APOE LPL
43 limbal stem cell deficiency 9.7 CYP7A1 NR1H4 NR1I2
44 artery disease 9.7
45 cholestasis 9.7
46 epilepsy 9.7
47 dystonia 9.7
48 lipid storage disease 9.7
49 xanthoma disseminatum 9.7
50 amelogenesis imperfecta, type iia3 9.7 APOE LPL

Graphical network of the top 20 diseases related to Xanthomatosis:



Diseases related to Xanthomatosis

Symptoms & Phenotypes for Xanthomatosis

Human phenotypes related to Xanthomatosis:

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

UMLS symptoms related to Xanthomatosis:


macule

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.5 APOB APOE HMGCR LDLR LDLRAP1 LPA
2 Increased LDL uptake GR00340-A-1 8.8 APOE LDLR LPL

MGI Mouse Phenotypes related to Xanthomatosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.65 LDLR LDLRAP1 LPL NR1H4 NR1I2 APOB
2 liver/biliary system MP:0005370 9.28 APOB APOE CYP27A1 CYP7A1 HMGCR LDLR

Drugs & Therapeutics for Xanthomatosis

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

(show all 20)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Probucol Approved Phase 4 23288-49-5 4912
2 Anticholesteremic Agents Phase 4,Phase 3,Phase 2
3 Antimetabolites Phase 4,Phase 3,Phase 2
4 Hypolipidemic Agents Phase 4,Phase 3,Phase 2
5 Lipid Regulating Agents Phase 4,Phase 3,Phase 2
6 Antioxidants Phase 4
7 Protective Agents Phase 4
8
Ezetimibe Approved Phase 3,Phase 2 163222-33-1 150311
9 Gamma-sitosterol Phase 3,Phase 2
10
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
11
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
12 Cathartics Phase 2
13 Dihydromevinolin Phase 2
14 Gastrointestinal Agents Phase 2
15 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
16 L 647318 Phase 2
17 Laxatives Phase 2
18 Phytosterol Nutraceutical Phase 2
19 Calcium, Dietary
20 Soy Bean Nutraceutical

Interventional clinical trials:

(show all 16)

id Name Status NCT ID Phase Drugs
1 Study on the Efficacy and Safety of Oral Probucol Tablets in Patients With Hyperlipidemia - Post-Marketing Surveillance Completed NCT02730390 Phase 4
2 Higher-Dose Ezetimibe to Treat Homozygous Sitosterolemia Completed NCT00099996 Phase 3 SCH-58235;Ezetimibe
3 Phase II Study of Cholesterol- and Cholestanol-Free Diet, Lovastatin, and Chenodeoxycholic Acid for Cerebrotendinous Xanthomatosis Unknown status NCT00004346 Phase 2 chenodeoxycholic acid;lovastatin
4 SCH-58235 (Ezetimibe) to Treat Homozygous Sitosterolemia Completed NCT00045812 Phase 2 SCH-58235
5 Evaluation of Carotid IMT and Atherogenic Risk Factors in Patients With Cerebrotendinous Xanthomatosis Unknown status NCT01613898
6 Arterial Wall Calcium Load in Pseudoxanthoma Elasticum Unknown status NCT01731080
7 Soy Food Intervention Trial Unknown status NCT00924339
8 Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia Completed NCT01878604
9 Effects of LDL Apheresis System on the Expression of Genes Involved in Lipoprotein Metabolism and Inflammation in Homozygotes for Familial Hypercholesterolemia Completed NCT02462655
10 Cerebrotendinous Xanthomatosis (CTX) Prevalence Study Recruiting NCT02638220
11 A Registration Study for Familial Hypercholesterolemia in Taiwan Recruiting NCT03152656
12 Lp(a) and Aortic Valve Calcification Recruiting NCT02976818
13 Causes and Natural History of Dyslipidemias Recruiting NCT00353782
14 International Rare Histiocytic Disorders Registry (IRHDR) Recruiting NCT02285582
15 Clinical and Pathophysiological Investigations Into Erdheim Chester Disease Recruiting NCT01417520
16 Cholestanol in Humans Withdrawn NCT00018694 Chenodeoxycholic Acid

Search NIH Clinical Center for Xanthomatosis

Cochrane evidence based reviews: xanthomatosis

Genetic Tests for Xanthomatosis

Genetic tests related to Xanthomatosis:

id Genetic test Affiliating Genes
1 Xanthomatosis 29

Anatomical Context for Xanthomatosis

MalaCards organs/tissues related to Xanthomatosis:

39
Brain, Bone, Testes, Liver, Skin, T Cells, Spinal Cord

Publications for Xanthomatosis

Articles related to Xanthomatosis:

(show top 50) (show all 583)
id Title Authors Year
1
Teaching NeuroImages: Early-onset dementia and demyelinating neuropathy disclosing cerebrotendinous xanthomatosis. ( 28894038 )
2017
2
A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract. ( 28229379 )
2017
3
The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression. ( 28324197 )
2017
4
The role of dentate nuclei in human oculomotor control: insights from cerebrotendinous xanthomatosis. ( 28168705 )
2017
5
Sonographic Findings of Polyneuropathy Associated With Cerebrotendinous Xanthomatosis: A Case Report. ( 28503466 )
2017
6
A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios. ( 28314860 )
2017
7
Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment. ( 28590052 )
2017
8
Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis. ( 28894950 )
2017
9
Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis: Genetics, Immunostaining, Mass Spectrometry. ( 28937538 )
2017
10
Cerebellar Disease Mimicking Cerebrotendinous Xanthomatosis: Langerhans Cell Histiocytosis. ( 28554492 )
2017
11
Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families. ( 28623566 )
2017
12
Case 239: Cerebrotendinous Xanthomatosis. ( 28218883 )
2017
13
Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability. ( 27858369 )
2016
14
Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series. ( 27888347 )
2016
15
Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method. ( 27331003 )
2016
16
Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report. ( 27094915 )
2016
17
Induced pluripotent stem cells (iPSCs) derived from cerebrotendinous xanthomatosis (CTX) patient's fibroblasts carrying a R395S mutation. ( 27879219 )
2016
18
A case of cerebrotendinous xanthomatosis mimicking the clinical phenotype of mitochondrial disease with a novel frame-shift mutation (c. 43_44 delGG) in CYP27A1 gene exon 1. ( 27680221 )
2016
19
Cerebrotendinous xanthomatosis; a genetic condition: Clinical profile of three patients from a rural Indian family and review of literature. ( 27182150 )
2016
20
Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood. ( 27084087 )
2016
21
Late-onset spinal form xanthomatosis without brain lesion: a case report. ( 26861945 )
2016
22
Cerebrotendinous xanthomatosis and Marfan syndrome - A picturesque combination. ( 27625283 )
2016
23
Clinical Images: Dual-energy computed tomography-based molecular imaging of cholesterol deposits in Achilles tendon xanthomatosis. ( 26946224 )
2016
24
Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports. ( 27225395 )
2016
25
The wide spectrum of cerebrotendinous xanthomatosis: Case report of a rare but treatable disease. ( 26874936 )
2016
26
Cerebrotendinous Xanthomatosis: A Treatable Genetic Disease Not to Be Missed. ( 26906304 )
2016
27
Pathophysiology of cerebrotendinous xanthomatosis. ( 27840382 )
2016
28
Cerebrotendinous Xanthomatosis Without Skin Changes: Diagnostic Delay and Confirmation by Genetic Analysis. ( 27771677 )
2016
29
Blastic Plasmacytoid Dendritic Cell Neoplasm Associated with Dystrophic Xanthomatosis after Chemotherapy. ( 27535402 )
2016
30
Cerebrotendinous xanthomatosis. ( 27559524 )
2016
31
Gastric Xanthomatosis: A Rare Presentation of a Common Disorder. ( 26905903 )
2016
32
Diagnosis of spinal xanthomatosis by next-generation sequencing: identifying a rare, treatable mimic of hereditary spastic paraparesis. ( 25862734 )
2015
33
Enlarging brain xanthomas in a patient with cerebrotendinous xanthomatosis. ( 25567502 )
2015
34
Spinal form cerebrotendinous xanthomatosis patient with long spinal cord lesion. ( 25941960 )
2015
35
Small Bowel Obstruction due to Intestinal Xanthomatosis. ( 26167322 )
2015
36
Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes. ( 26643207 )
2015
37
Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment. ( 26156051 )
2015
38
Cholestane-3I^,5I+,6I^-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency. ( 26239048 )
2015
39
Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis. ( 25983621 )
2015
40
Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report. ( 26519892 )
2015
41
Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population. ( 26937392 )
2015
42
Yellow Changes of the Skin: A Quiz. Diffuse plane normolipemic xanthomatosis associated with multiple myeloma. ( 25669308 )
2015
43
Novel cerebrotendinous xanthomatosis mutation causes familial early dementia in Colombia. ( 26844446 )
2015
44
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis. ( 26153518 )
2015
45
A case of diffuse plane normolipemic xanthomatosis presenting with oral lesions. ( 24819652 )
2014
46
A useful multi-analyte blood test for cerebrotendinous xanthomatosis. ( 24769274 )
2014
47
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management. ( 25424010 )
2014
48
Screening for cerebrotendinous xanthomatosis. ( 25234588 )
2014
49
Long-term follow-up on the effect of combined therapy of bile acids and statins in the treatment of cerebrotendinous xanthomatosis: a case report. ( 24529221 )
2014
50
A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. ( 24442603 )
2014

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 17)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.65 APOB APOE CYP27A1 CYP7A1 HMGCR LDLR
2
Show member pathways
12.62 CYP7A1 HMGCR LPL NR1H4
3
Show member pathways
12.39 APOB APOE LDLR LPL
4
Show member pathways
12.12 APOB LDLR LDLRAP1
5
Show member pathways
12.04 APOB APOE LDLR LPL
6
Show member pathways
11.97 APOB APOE LDLR LDLRAP1 LPA LPL
7
Show member pathways
11.94 CYP27A1 CYP7A1 NR1H4
8 11.5 HMGCR LDLR LPL
9 11.47 CYP27A1 CYP7A1 LPL
10 11.31 CYP7A1 HMGCR LDLR NR1H4
11 11.11 HMGCR NR1I2
12 11.09 CYP7A1 NR1H4 NR1I2
13 11.08 APOE LDLR
14
Show member pathways
10.93 APOB APOE CYP7A1 HMGCR LDLR LPL
15 10.79 CYP7A1 NR1H4
16 10.77 HMGCR LDLR
17 10.66 CYP7A1 NR1H4 NR1I2

GO Terms for Xanthomatosis

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

id Name GO ID Score Top Affiliating Genes
1 early endosome GO:0005769 9.67 APOB APOE LDLR LDLRAP1
2 clathrin-coated endocytic vesicle membrane GO:0030669 9.43 APOB APOE LDLR
3 endocytic vesicle lumen GO:0071682 9.4 APOB APOE
4 very-low-density lipoprotein particle GO:0034361 9.33 APOB APOE LPL
5 intermediate-density lipoprotein particle GO:0034363 9.32 APOB APOE
6 low-density lipoprotein particle GO:0034362 9.13 APOB APOE LDLR
7 chylomicron GO:0042627 8.8 APOB APOE LPL

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

(show all 40)
id Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.87 APOB APOE LDLR LDLRAP1
2 lipid metabolic process GO:0006629 9.86 APOB APOE CYP7A1 HMGCR LDLR LDLRAP1
3 membrane organization GO:0061024 9.85 APOB LDLR LDLRAP1
4 lipid transport GO:0006869 9.84 APOB APOE LDLR LPA
5 retinoid metabolic process GO:0001523 9.75 APOB APOE LPL
6 triglyceride homeostasis GO:0070328 9.7 APOE LPL NR1H4
7 low-density lipoprotein particle clearance GO:0034383 9.69 APOB LDLR LDLRAP1
8 intracellular receptor signaling pathway GO:0030522 9.68 NR1H4 NR1I2
9 negative regulation of MAP kinase activity GO:0043407 9.68 APOE HMGCR
10 triglyceride metabolic process GO:0006641 9.68 APOE LPL
11 regulation of cholesterol biosynthetic process GO:0045540 9.67 APOB HMGCR
12 bile acid biosynthetic process GO:0006699 9.67 CYP27A1 CYP7A1
13 triglyceride catabolic process GO:0019433 9.67 APOB APOE LPL
14 cellular response to fatty acid GO:0071398 9.66 LDLR NR1H4
15 cholesterol transport GO:0030301 9.66 APOB LDLR
16 cholesterol efflux GO:0033344 9.65 APOB APOE
17 sterol metabolic process GO:0016125 9.65 CYP27A1 CYP7A1
18 artery morphogenesis GO:0048844 9.65 APOB APOE
19 lipoprotein metabolic process GO:0042157 9.65 APOB APOE LDLR
20 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.64 APOB LPL
21 fatty acid homeostasis GO:0055089 9.63 APOE NR1H4
22 cholesterol catabolic process GO:0006707 9.63 APOE CYP7A1
23 low-density lipoprotein particle remodeling GO:0034374 9.63 APOB APOE LPA
24 cholesterol metabolic process GO:0008203 9.63 APOB APOE CYP7A1 HMGCR LDLR LDLRAP1
25 regulation of cholesterol homeostasis GO:2000188 9.62 LDLR NR1H4
26 amyloid precursor protein metabolic process GO:0042982 9.62 APOE LDLRAP1
27 chylomicron assembly GO:0034378 9.61 APOB APOE
28 positive regulation of cholesterol storage GO:0010886 9.61 APOB LPL
29 very-low-density lipoprotein particle remodeling GO:0034372 9.6 APOE LPL
30 lipoprotein biosynthetic process GO:0042158 9.59 APOB APOE
31 very-low-density lipoprotein particle clearance GO:0034447 9.58 APOB APOE
32 chylomicron remodeling GO:0034371 9.58 APOB APOE LPL
33 regulation of bile acid biosynthetic process GO:0070857 9.56 CYP7A1 NR1H4
34 receptor-mediated endocytosis involved in cholesterol transport GO:0090118 9.55 LDLR LDLRAP1
35 chylomicron remnant clearance GO:0034382 9.54 APOB APOE LDLR
36 lipoprotein catabolic process GO:0042159 9.5 APOB APOE LDLR
37 cholesterol homeostasis GO:0042632 9.43 APOB APOE CYP7A1 LDLR LDLRAP1 LPL
38 positive regulation of endocytosis GO:0045807 9.34 APOE
39 steroid metabolic process GO:0008202 9.17 APOB APOE CYP7A1 HMGCR LDLR LDLRAP1
40 regulation of cholesterol metabolic process GO:0090181 9.13 NR1H4

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

id Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding GO:0004879 9.43 NR1H4 NR1I2
2 lipid transporter activity GO:0005319 9.4 APOB APOE
3 cholesterol transporter activity GO:0017127 9.37 APOB APOE
4 apolipoprotein binding GO:0034185 9.32 LPA LPL
5 thyroid hormone receptor activity GO:0004887 9.26 NR1H4 NR1I2
6 heparin binding GO:0008201 9.26 APOB APOE LPA LPL
7 beta-amyloid binding GO:0001540 9.16 APOE LDLRAP1
8 low-density lipoprotein particle receptor binding GO:0050750 8.8 APOB APOE LDLRAP1

Sources for Xanthomatosis

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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