Aliases & Classifications for Xanthomatosis

Aliases & Descriptions 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
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 budd-chiari syndrome and myocardial infarction, 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 Lipoprotein metabolism. The drugs Probucol and Hypolipidemic 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 homeostasis/metabolism

Related Diseases for Xanthomatosis

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

(show top 50) (show all 122)
id Related Disease Score Top Affiliating Genes
1 budd-chiari syndrome 29.1 APOB HMGCR LPA
2 myocardial infarction 28.8 APOB HMGCR LDLR LPA
3 cerebrotendinous xanthomatosis 12.5
4 wolman disease 11.5
5 leukodystrophy 11.2
6 sitosterolemia 11.2
7 familial lipoprotein lipase deficiency 10.8
8 hyperlipidemia type 3 10.8
9 transient retinal arterial occlusion 10.1 APOB HMGCR
10 keratoconus 4 10.1 APOB LDLR
11 gastrointestinal adenoma 10.1 CYP7A1 NR1H4 NR1I2
12 heart aneurysm 10.1 CYP7A1 NR1H4 NR1I2
13 albinism, oculocutaneous, type v 10.1 APOB LPA
14 eclampsia 10.1 CYP7A1 NR1H4 NR1I2
15 hypercholesterolemia, due to ligand-defective apo b 10.0 APOB LDLR
16 dentinogenesis imperfecta type 2 10.0 APOB HMGCR LDLR
17 spinocerebellar ataxia 20 10.0 APOB HMGCR LPA
18 gallbladder disease 4 10.0 APOB CYP27A1 CYP7A1 HMGCR
19 bird fancier's lung 10.0 APOB LPA
20 asphyxia neonatorum 10.0 LDLR LPA
21 cataract 10.0
22 myelophthisic anemia 10.0 APOB HMGCR LPA
23 hypercholesterolemia, familial, autosomal recessive 9.9 LDLR LDLRAP1
24 chondrocalcinosis with early-onset osteoarthritis 9.9 APOB LPA
25 atherosclerosis 9.9
26 alzheimer disease 19, late onset 9.9 APOB LDLR LPA
27 stone in bladder diverticulum 9.9 APOB LDLR LPA
28 von willebrand disease, platelet-type 9.9 APOB LDLR LPA
29 hypertriglyceridemia 9.9 APOB LDLR LPA
30 immunodeficiency 18 9.9 APOB LDLR LPA
31 malignant hyperthermia susceptibility 1 9.9 APOB LPA
32 candidal paronychia 9.9 APOB LDLRAP1
33 pyrimidine metabolic disorder 9.9 APOB LDLR LPA
34 tendinitis 9.8
35 hepatitis 9.8
36 ataxia 9.8
37 skin squamous cell carcinoma 9.8 APOB HMGCR LDLR LPA
38 acute apical periodontitis 9.8 APOB HMGCR LDLR LPA
39 lipomatosis 9.8 APOB HMGCR LDLR LPA
40 autoimmune-related retinopathy and optic neuropathy 9.8 APOB HMGCR LDLR LPA
41 pericarditis 9.8 APOB HMGCR LDLR LPA
42 macular degeneration, age-related, 12 9.8 APOB HMGCR LDLR LPA
43 osteoporosis 9.8
44 multiple myeloma 9.8
45 mycosis fungoides 9.8
46 lymphoma 9.8
47 diarrhea 9.8
48 fox-fordyce disease 9.8
49 polyneuropathy 9.8
50 cerebritis 9.8

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 9.1 APOB HMGCR LDLR LDLRAP1 LPA NR1H3

MGI Mouse Phenotypes related to Xanthomatosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.61 NR1H4 NR1I2 APOB CYP27A1 CYP7A1 HMGCR
2 digestive/alimentary MP:0005381 9.55 CYP27A1 CYP7A1 LDLR NR1H4 VCL
3 liver/biliary system MP:0005370 9.23 APOB CYP27A1 CYP7A1 HMGCR LDLR NR1H3

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 Hypolipidemic Agents Phase 4,Phase 3,Phase 2
3 Anticholesteremic Agents Phase 4,Phase 3,Phase 2
4 Lipid Regulating Agents Phase 4,Phase 3,Phase 2
5 Antimetabolites Phase 4,Phase 3,Phase 2
6 Protective Agents Phase 4
7 Antioxidants 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 Gastrointestinal Agents Phase 2
13 Dihydromevinolin Phase 2
14 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
15 L 647318 Phase 2
16 Laxatives Phase 2
17 Cathartics 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
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
3 Phase II Study of Cholesterol- and Cholestanol-Free Diet, Lovastatin, and Chenodeoxycholic Acid for Cerebrotendinous Xanthomatosis Unknown status NCT00004346 Phase 2
4 SCH-58235 (Ezetimibe) to Treat Homozygous Sitosterolemia Completed NCT00045812 Phase 2
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 Basic Investigations Into Erdheim Chester Disease Recruiting NCT01417520
16 Cholestanol in Humans Withdrawn NCT00018694

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, Skin, Liver, T Cells, Spinal Cord

Publications for Xanthomatosis

Articles related to Xanthomatosis:

(show top 50) (show all 577)
id Title Authors Year
1
A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios. ( 28314860 )
2017
2
Case 239: Cerebrotendinous Xanthomatosis. ( 28218883 )
2017
3
The role of dentate nuclei in human oculomotor control: insights from cerebrotendinous xanthomatosis. ( 28168705 )
2017
4
Sonographic Findings of Polyneuropathy Associated With Cerebrotendinous Xanthomatosis: A Case Report. ( 28503466 )
2017
5
A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract. ( 28229379 )
2017
6
The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression. ( 28324197 )
2017
7
Induced pluripotent stem cells (iPSCs) derived from cerebrotendinous xanthomatosis (CTX) patient's fibroblasts carrying a R395S mutation. ( 27879219 )
2016
8
Pathophysiology of cerebrotendinous xanthomatosis. ( 27840382 )
2016
9
Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report. ( 27094915 )
2016
10
Cerebrotendinous Xanthomatosis: A Treatable Genetic Disease Not to Be Missed. ( 26906304 )
2016
11
Late-onset spinal form xanthomatosis without brain lesion: a case report. ( 26861945 )
2016
12
Blastic Plasmacytoid Dendritic Cell Neoplasm Associated with Dystrophic Xanthomatosis after Chemotherapy. ( 27535402 )
2016
13
Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series. ( 27888347 )
2016
14
Clinical Images: Dual-energy computed tomography-based molecular imaging of cholesterol deposits in Achilles tendon xanthomatosis. ( 26946224 )
2016
15
Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood. ( 27084087 )
2016
16
The wide spectrum of cerebrotendinous xanthomatosis: Case report of a rare but treatable disease. ( 26874936 )
2016
17
Cerebrotendinous xanthomatosis. ( 27559524 )
2016
18
Cerebrotendinous Xanthomatosis Without Skin Changes: Diagnostic Delay and Confirmation by Genetic Analysis. ( 27771677 )
2016
19
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
20
Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability. ( 27858369 )
2016
21
Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports. ( 27225395 )
2016
22
Gastric Xanthomatosis: A Rare Presentation of a Common Disorder. ( 26905903 )
2016
23
Cerebrotendinous xanthomatosis; a genetic condition: Clinical profile of three patients from a rural Indian family and review of literature. ( 27182150 )
2016
24
Cerebrotendinous xanthomatosis and Marfan syndrome - A picturesque combination. ( 27625283 )
2016
25
Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method. ( 27331003 )
2016
26
Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes. ( 26643207 )
2015
27
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis. ( 26153518 )
2015
28
Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report. ( 26519892 )
2015
29
Yellow Changes of the Skin: A Quiz. Diffuse plane normolipemic xanthomatosis associated with multiple myeloma. ( 25669308 )
2015
30
Diagnosis of spinal xanthomatosis by next-generation sequencing: identifying a rare, treatable mimic of hereditary spastic paraparesis. ( 25862734 )
2015
31
Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis. ( 25983621 )
2015
32
Spinal form cerebrotendinous xanthomatosis patient with long spinal cord lesion. ( 25941960 )
2015
33
Novel cerebrotendinous xanthomatosis mutation causes familial early dementia in Colombia. ( 26844446 )
2015
34
Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population. ( 26937392 )
2015
35
Cholestane-3I^,5I+,6I^-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency. ( 26239048 )
2015
36
Enlarging brain xanthomas in a patient with cerebrotendinous xanthomatosis. ( 25567502 )
2015
37
Small Bowel Obstruction due to Intestinal Xanthomatosis. ( 26167322 )
2015
38
Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment. ( 26156051 )
2015
39
A case of diffuse plane normolipemic xanthomatosis presenting with oral lesions. ( 24819652 )
2014
40
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management. ( 25424010 )
2014
41
Clinical and radiological findings of a cerebrotendinous xanthomatosis patient with a novel p.A335V mutation in the CYP27A1 gene. ( 25447658 )
2014
42
A useful multi-analyte blood test for cerebrotendinous xanthomatosis. ( 24769274 )
2014
43
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
44
A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. ( 24442603 )
2014
45
A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns. ( 24186955 )
2014
46
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia. ( 24584636 )
2014
47
Subcutaneous xanthomatosis in a great white pelican (Pelecanus onocrotalus). ( 24712175 )
2014
48
Screening for cerebrotendinous xanthomatosis. ( 25234588 )
2014
49
Cerebrotendinous xanthomatosis: an early diagnosis by biochemical tests. ( 24553972 )
2014
50
Cerebrotendinous xanthomatosis: the effectiveness of high-dose piracetam for the treatment of cerebellar and sensorial ataxia. ( 25084753 )
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 15)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.72 APOB CYP27A1 CYP7A1 HMGCR LDLR LDLRAP1
2
Show member pathways
12.3 APOB LDLR LDLRAP1 LPA NR1H3
3
Show member pathways
12.09 APOB LDLR LDLRAP1
4
Show member pathways
11.91 CYP27A1 CYP7A1 NR1H4
5
Show member pathways
11.59 NR1H3 NR1H4 NR1I2
6 11.44 CYP27A1 CYP7A1 NR1H3
7 11.31 CYP7A1 HMGCR LDLR NR1H4
8 11.23 APOB LPA
9
Show member pathways
11.09 APOB CYP7A1 HMGCR LDLR
10 11.08 HMGCR NR1I2
11 10.93 CYP7A1 NR1H3
12 10.78 HMGCR LDLR NR1H3
13 10.76 CYP7A1 NR1H4
14 10.66 CYP7A1 NR1H4 NR1I2
15 10.47 CYP7A1 NR1H3 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 clathrin-coated endocytic vesicle membrane GO:0030669 9.16 APOB LDLR
2 early endosome GO:0005769 9.13 APOB LDLR LDLRAP1
3 low-density lipoprotein particle GO:0034362 8.62 APOB LDLR

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

(show all 25)
id Name GO ID Score Top Affiliating Genes
1 membrane organization GO:0061024 9.8 APOB LDLR LDLRAP1
2 lipid metabolic process GO:0006629 9.8 APOB CYP7A1 HMGCR LDLR LDLRAP1 LPA
3 receptor-mediated endocytosis GO:0006898 9.79 APOB LDLR LDLRAP1
4 transcription initiation from RNA polymerase II promoter GO:0006367 9.74 NR1H3 NR1H4 NR1I2
5 lipid transport GO:0006869 9.73 APOB LDLR LPA
6 steroid hormone mediated signaling pathway GO:0043401 9.69 NR1H3 NR1H4 NR1I2
7 lipoprotein metabolic process GO:0042157 9.67 APOB LDLR LPA
8 regulation of cholesterol biosynthetic process GO:0045540 9.61 APOB HMGCR
9 bile acid biosynthetic process GO:0006699 9.61 CYP27A1 CYP7A1
10 intracellular receptor signaling pathway GO:0030522 9.61 NR1H3 NR1H4 NR1I2
11 triglyceride homeostasis GO:0070328 9.6 NR1H3 NR1H4
12 cellular response to fatty acid GO:0071398 9.59 LDLR NR1H4
13 cholesterol transport GO:0030301 9.58 APOB LDLR
14 sterol metabolic process GO:0016125 9.58 CYP27A1 CYP7A1
15 low-density lipoprotein particle remodeling GO:0034374 9.55 APOB LPA
16 cholesterol metabolic process GO:0008203 9.55 APOB CYP7A1 HMGCR LDLR LDLRAP1
17 positive regulation of triglyceride biosynthetic process GO:0010867 9.54 LDLR NR1H3
18 low-density lipoprotein particle clearance GO:0034383 9.54 APOB LDLR LDLRAP1
19 chylomicron remnant clearance GO:0034382 9.52 APOB LDLR
20 regulation of bile acid biosynthetic process GO:0070857 9.48 CYP7A1 NR1H4
21 lipoprotein catabolic process GO:0042159 9.46 APOB LDLR
22 regulation of cholesterol homeostasis GO:2000188 9.43 LDLR NR1H3 NR1H4
23 receptor-mediated endocytosis involved in cholesterol transport GO:0090118 9.4 LDLR LDLRAP1
24 cholesterol homeostasis GO:0042632 9.35 APOB CYP7A1 LDLR LDLRAP1 NR1H3
25 steroid metabolic process GO:0008202 9.1 APOB CYP7A1 HMGCR LDLR LDLRAP1 NR1I2

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

id Name GO ID Score Top Affiliating Genes
1 transcription coactivator activity GO:0003713 9.5 NR1H3 NR1H4 NR1I2
2 low-density lipoprotein particle receptor binding GO:0050750 9.26 APOB LDLRAP1
3 thyroid hormone receptor activity GO:0004887 9.16 NR1H4 NR1I2
4 steroid hormone receptor activity GO:0003707 9.13 NR1H3 NR1H4 NR1I2
5 RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding GO:0004879 8.8 NR1H3 NR1H4 NR1I2

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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