Aliases & Classifications for Xanthomatosis

MalaCards integrated aliases for Xanthomatosis:

Name: Xanthomatosis 53 12 28 51 41 14 69
Xanthomatosis, Susceptibility to 53
Xanthelasmatosis 12

Characteristics:

OMIM:

53
Inheritance:
? autosomal dominant


Classifications:



External Ids:

OMIM 53 602247
Disease Ontology 12 DOID:3345
MeSH 41 D014973
SNOMED-CT 64 63103006
MedGen 39 C1865704
SNOMED-CT via HPO 65 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 xanthomatosis, susceptibility to, is related to cerebrotendinous xanthomatosis and sitosterolemia, 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

Description 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 149)
# Related Disease Score Top Affiliating Genes
1 cerebrotendinous xanthomatosis 33.4 CYP27A1 CYP7A1 HMGCR NR1H4 NR1I2
2 sitosterolemia 31.8 APOB CYP27A1 CYP7A1 HMGCR
3 xanthoma disseminatum 29.9 APOB APOE
4 cholestasis 29.6 CYP7A1 NR1H4 NR1I2
5 hyperlipoproteinemia, type iii 29.5 APOB APOE HMGCR LDLR LPA LPL
6 hypercholesterolemia, familial 29.1 APOB APOE CYP7A1 HMGCR LDLR LDLRAP1
7 smith-lemli-opitz syndrome 29.0 APOE HMGCR LDLR
8 hyperlipoproteinemia, type v 29.0 APOE LPL
9 arteries, anomalies of 28.9 APOB APOE LDLR LPA
10 myocardial infarction 28.1 APOB APOE HMGCR LDLR LPA
11 coronary artery anomaly 27.5 APOB APOE HMGCR LDLR LPA LPL
12 coronary heart disease 1 27.3 APOB APOE HMGCR LDLR LPA LPL
13 atherosclerosis susceptibility 27.3 APOB APOE HMGCR LDLR LPA LPL
14 lysosomal acid lipase deficiency 11.6
15 leukodystrophy 11.3
16 familial lipoprotein lipase deficiency 10.9
17 cataract 10.1
18 schnyder corneal dystrophy 10.0 APOB APOE
19 bile duct disease 10.0 CYP7A1 NR1H4 NR1I2
20 cholesterol ester storage disease 10.0 APOB LDLRAP1
21 biliary tract disease 10.0 CYP7A1 NR1H4 NR1I2
22 hemorrhage, intracerebral 10.0 APOE HMGCR
23 hypercholesterolemia, autosomal dominant, 3 10.0
24 ataxia and polyneuropathy, adult-onset 9.9
25 tendinitis 9.9
26 hepatitis 9.9
27 neuropathy 9.9
28 leukodystrophy, hypomyelinating, 3 9.9 APOB APOE LPA
29 hypercholesterolemia, autosomal recessive 9.9 LDLR LDLRAP1
30 osteoporosis 9.9
31 mycosis fungoides 9.9
32 myeloma, multiple 9.9
33 bone mineral density quantitative trait locus 8 9.9
34 bone mineral density quantitative trait locus 15 9.9
35 lymphoma 9.9
36 dementia 9.9
37 diarrhea 9.9
38 fox-fordyce disease 9.9
39 polyneuropathy 9.9
40 cerebritis 9.9
41 lipid storage disease 9.9
42 streptococcal group a invasive disease 9.9
43 cholelithiasis 9.9 APOE CYP7A1 NR1H4
44 carotid artery disease 9.9 APOB APOE LPA
45 tangier disease 9.8 APOB APOE LPA
46 aging 9.8
47 arthritis 9.8
48 epilepsy 9.8
49 dystonia 9.8
50 hypercholesterolemia, autosomal dominant, type b 9.8 APOB APOE LDLR

Graphical network of the top 20 diseases related to Xanthomatosis:



Diseases related to Xanthomatosis

Symptoms & Phenotypes for Xanthomatosis

Symptoms via clinical synopsis from OMIM:

53
Skin:
giant xanthomas

Misc:
manifest in familial hypercholesterolemia


Clinical features from OMIM:

602247

Human phenotypes related to Xanthomatosis:

31
# Description HPO Frequency HPO Source Accession
1 hypercholesterolemia 31 HP:0003124
2 xanthomatosis 31 HP:0000991

UMLS symptoms related to Xanthomatosis:


macule

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

25
# 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.65 LPL NR1H4 NR1I2 APOB APOE CYP27A1
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)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Probucol Approved, Investigational 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)

# 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:

# Genetic test Affiliating Genes
1 Xanthomatosis 28

Anatomical Context for Xanthomatosis

MalaCards organs/tissues related to Xanthomatosis:

38
Brain, Bone, Testes, Skin, Liver, Spinal Cord, T Cells

Publications for Xanthomatosis

Articles related to Xanthomatosis:

(show top 50) (show all 596)
# Title Authors Year
1
Nationwide survey on cerebrotendinous xanthomatosis in Japan. ( 29321515 )
2018
2
Teaching NeuroImages: Cerebrotendinous xanthomatosis: A rare treatable adult-onset lipid storage disease. ( 29440550 )
2018
3
Segmental xanthomatosis of the ileum. ( 29366929 )
2018
4
Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment. ( 29260356 )
2018
5
Cerebrotendinous Xanthomatosis with Nodular-hypertrophy of the Lumbosacral Roots. ( 29321402 )
2018
6
A Case of Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene. ( 29434128 )
2018
7
Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families. ( 28623566 )
2017
8
Xanthomatosis in bilateral hands mimicking rheumatoid arthritis: A case report. ( 29390551 )
2017
9
Unique case of cerebrotendinous xanthomatosis revisited: All the mutations responsible for this disease are present in the CYP27A1 gene. ( 29095540 )
2017
10
Cerebrotendinous xanthomatosis: early diagnosis on the basis of juvenile cataracts. ( 29079218 )
2017
11
Prominent Tendon Xanthomas and Abdominal Aortic Aneurysm Associated with Cerebrotendinous Xanthomatosis Identified Using Whole Exome Sequencing. ( 29269672 )
2017
12
Teaching NeuroImages: Early-onset dementia and demyelinating neuropathy disclosing cerebrotendinous xanthomatosis. ( 28894038 )
2017
13
Bilateral Femoral Neck Fractures in Cerebrotendinous Xanthomatosis Treated by Hip Arthroplasties: The First Case Report and Literature Review. ( 29242796 )
2017
14
Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment. ( 28590052 )
2017
15
The role of dentate nuclei in human oculomotor control: insights from cerebrotendinous xanthomatosis. ( 28168705 )
2017
16
The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression. ( 28324197 )
2017
17
Cerebellar Disease Mimicking Cerebrotendinous Xanthomatosis: Langerhans Cell Histiocytosis. ( 28554492 )
2017
18
A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios. ( 28314860 )
2017
19
A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract. ( 28229379 )
2017
20
Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey. ( 29058268 )
2017
21
Case 239: Cerebrotendinous Xanthomatosis. ( 28218883 )
2017
22
Sonographic Findings of Polyneuropathy Associated With Cerebrotendinous Xanthomatosis: A Case Report. ( 28503466 )
2017
23
Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis: Genetics, Immunostaining, Mass Spectrometry. ( 28937538 )
2017
24
Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis. ( 28894950 )
2017
25
Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX). ( 28980151 )
2017
26
Blastic Plasmacytoid Dendritic Cell Neoplasm Associated with Dystrophic Xanthomatosis after Chemotherapy. ( 27535402 )
2016
27
Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability. ( 27858369 )
2016
28
Cerebrotendinous xanthomatosis. ( 27559524 )
2016
29
Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood. ( 27084087 )
2016
30
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
31
Cerebrotendinous xanthomatosis and Marfan syndrome - A picturesque combination. ( 27625283 )
2016
32
Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report. ( 27094915 )
2016
33
Gastric Xanthomatosis: A Rare Presentation of a Common Disorder. ( 26905903 )
2016
34
Cerebrotendinous xanthomatosis; a genetic condition: Clinical profile of three patients from a rural Indian family and review of literature. ( 27182150 )
2016
35
Induced pluripotent stem cells (iPSCs) derived from cerebrotendinous xanthomatosis (CTX) patient's fibroblasts carrying a R395S mutation. ( 27879219 )
2016
36
Late-onset spinal form xanthomatosis without brain lesion: a case report. ( 26861945 )
2016
37
Pathophysiology of cerebrotendinous xanthomatosis. ( 27840382 )
2016
38
Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series. ( 27888347 )
2016
39
The wide spectrum of cerebrotendinous xanthomatosis: Case report of a rare but treatable disease. ( 26874936 )
2016
40
Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports. ( 27225395 )
2016
41
Cerebrotendinous Xanthomatosis Without Skin Changes: Diagnostic Delay and Confirmation by Genetic Analysis. ( 27771677 )
2016
42
Clinical Images: Dual-energy computed tomography-based molecular imaging of cholesterol deposits in Achilles tendon xanthomatosis. ( 26946224 )
2016
43
Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method. ( 27331003 )
2016
44
Cerebrotendinous Xanthomatosis: A Treatable Genetic Disease Not to Be Missed. ( 26906304 )
2016
45
Novel cerebrotendinous xanthomatosis mutation causes familial early dementia in Colombia. ( 26844446 )
2015
46
Cholestane-3I^,5I+,6I^-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency. ( 26239048 )
2015
47
Spinal form cerebrotendinous xanthomatosis patient with long spinal cord lesion. ( 25941960 )
2015
48
Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population. ( 26937392 )
2015
49
Diagnosis of spinal xanthomatosis by next-generation sequencing: identifying a rare, treatable mimic of hereditary spastic paraparesis. ( 25862734 )
2015
50
Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report. ( 26519892 )
2015

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 18)
# 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
12.07 APOB APOE LDLR
6
Show member pathways
12.04 APOB APOE LDLR LPL
7
Show member pathways
11.97 APOB APOE LDLR LDLRAP1 LPA LPL
8
Show member pathways
11.94 CYP27A1 CYP7A1 NR1H4
9 11.5 HMGCR LDLR LPL
10 11.47 CYP27A1 CYP7A1 LPL
11
Show member pathways
11.35 APOB APOE CYP27A1 CYP7A1 HMGCR LDLR
12 11.31 CYP7A1 HMGCR LDLR NR1H4
13 11.12 HMGCR NR1I2
14 11.09 CYP7A1 NR1H4 NR1I2
15 11.04 APOE LDLR
16 10.79 CYP7A1 NR1H4
17 10.77 HMGCR LDLR
18 10.66 CYP7A1 NR1H4 NR1I2

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 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 43)
# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.88 APOB APOE LDLR LDLRAP1
2 lipid metabolic process GO:0006629 9.86 APOB APOE CYP7A1 HMGCR LDLR LDLRAP1
3 lipid transport GO:0006869 9.85 APOB APOE LDLR LPA
4 membrane organization GO:0061024 9.83 APOB LDLR LDLRAP1
5 retinoid metabolic process GO:0001523 9.77 APOB APOE LPL
6 triglyceride homeostasis GO:0070328 9.71 APOE LPL NR1H4
7 cholesterol transport GO:0030301 9.7 APOB LDLR LDLRAP1
8 intracellular receptor signaling pathway GO:0030522 9.69 NR1H4 NR1I2
9 negative regulation of MAP kinase activity GO:0043407 9.69 APOE HMGCR
10 triglyceride catabolic process GO:0019433 9.69 APOB APOE LPL
11 triglyceride metabolic process GO:0006641 9.68 APOE LPL
12 regulation of cholesterol biosynthetic process GO:0045540 9.68 APOB HMGCR
13 long-term memory GO:0007616 9.68 APOE LDLR
14 bile acid biosynthetic process GO:0006699 9.68 CYP27A1 CYP7A1
15 cholesterol efflux GO:0033344 9.67 APOB APOE
16 cellular response to fatty acid GO:0071398 9.67 LDLR NR1H4
17 sterol metabolic process GO:0016125 9.67 CYP27A1 CYP7A1
18 lipoprotein metabolic process GO:0042157 9.67 APOB APOE LDLR
19 artery morphogenesis GO:0048844 9.66 APOB APOE
20 positive regulation of endocytosis GO:0045807 9.66 APOE LDLR
21 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.65 APOB LPL
22 fatty acid homeostasis GO:0055089 9.65 APOE NR1H4
23 low-density lipoprotein particle clearance GO:0034383 9.65 APOB LDLR LDLRAP1
24 regulation of protein metabolic process GO:0051246 9.64 APOE LDLR
25 amyloid precursor protein metabolic process GO:0042982 9.64 APOE LDLRAP1
26 cholesterol catabolic process GO:0006707 9.63 APOE CYP7A1
27 regulation of cholesterol homeostasis GO:2000188 9.63 LDLR NR1H4
28 low-density lipoprotein particle remodeling GO:0034374 9.63 APOB APOE LPA
29 cholesterol metabolic process GO:0008203 9.63 APOB APOE CYP7A1 HMGCR LDLR LDLRAP1
30 chylomicron assembly GO:0034378 9.62 APOB APOE
31 positive regulation of cholesterol storage GO:0010886 9.62 APOB LPL
32 very-low-density lipoprotein particle remodeling GO:0034372 9.61 APOE LPL
33 lipoprotein biosynthetic process GO:0042158 9.61 APOB APOE
34 regulation of cholesterol metabolic process GO:0090181 9.61 APOE LDLR NR1H4
35 very-low-density lipoprotein particle clearance GO:0034447 9.6 APOB APOE
36 regulation of bile acid biosynthetic process GO:0070857 9.58 CYP7A1 NR1H4
37 chylomicron remodeling GO:0034371 9.58 APOB APOE LPL
38 receptor-mediated endocytosis involved in cholesterol transport GO:0090118 9.57 LDLR LDLRAP1
39 response to caloric restriction GO:0061771 9.56 APOE LDLR
40 chylomicron remnant clearance GO:0034382 9.54 APOB APOE LDLR
41 lipoprotein catabolic process GO:0042159 9.5 APOB APOE LDLR
42 cholesterol homeostasis GO:0042632 9.43 APOB APOE CYP7A1 LDLR LDLRAP1 LPL
43 steroid metabolic process GO:0008202 9.17 APOB APOE CYP7A1 HMGCR LDLR LDLRAP1

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

# Name GO ID Score Top Affiliating Genes
1 nuclear receptor activity 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 amyloid-beta binding GO:0001540 9.33 APOE LDLR LDLRAP1
5 apolipoprotein binding GO:0034185 9.32 LPA LPL
6 thyroid hormone receptor activity GO:0004887 9.26 NR1H4 NR1I2
7 heparin binding GO:0008201 9.26 APOB APOE LPA LPL
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....