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MCID: XNT003
MIFTS: 53

Xanthomatosis

Categories: Metabolic diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Xanthomatosis

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MalaCards integrated aliases for Xanthomatosis:

Name: Xanthomatosis 57 12 29 55 44 15 73
Xanthomatosis, Susceptibility to 57
Xanthelasmatosis 12

Characteristics:

OMIM:

57
Inheritance:
? autosomal dominant


Classifications:

MalaCards categories:
Global: Metabolic diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 57 602247
Disease Ontology 12 DOID:3345
MeSH 44 D014973
SNOMED-CT 68 63103006
MedGen 42 C1865704
SNOMED-CT via HPO 69 13644009 166830008
UMLS 73 C0043325
Sources

Summaries for Xanthomatosis

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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 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 Ezetimibe and Anticholesteremic Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and bone, and related phenotypes are xanthomatosis and hypercholesterolemia

Description from OMIM: 602247
Sources

Related Diseases for Xanthomatosis

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

(show top 50) (show all 151)
# Related Disease Score Top Affiliating Genes
1 cerebrotendinous xanthomatosis 33.1 CYP27A1 CYP7A1 HMGCR NR1H4 NR1I2
2 sitosterolemia 32.2 APOB CYP7A1 HMGCR
3 xanthoma disseminatum 29.6 APOB APOE
4 cholestasis 29.5 CYP7A1 NR1H4 NR1I2
5 hyperlipoproteinemia, type v 28.7 APOE LPL
6 hyperlipoproteinemia, type iii 28.3 APOB APOE HMGCR LDLR LPA LPL
7 smith-lemli-opitz syndrome 28.3 APOE HMGCR LDLR
8 arteries, anomalies of 27.9 APOB APOE LDLR LPA
9 atherosclerosis susceptibility 27.5 APOB APOE LDLR LPA
10 hypercholesterolemia, familial 27.4 APOB APOE CYP7A1 HMGCR LDLR LDLRAP1
11 heart disease 26.9 APOB APOE HMGCR LDLR LPL
12 myocardial infarction 26.8 APOB APOE HMGCR LDLR LPA
13 coronary artery anomaly 26.3 APOB APOE HMGCR LDLR LPA LPL
14 coronary heart disease 1 26.1 APOB APOE HMGCR LDLR LPA LPL
15 lysosomal acid lipase deficiency 11.6
16 leukodystrophy 11.3
17 familial lipoprotein lipase deficiency 10.9
18 hyperlipidemia, combined, 1 10.1 APOB LPL
19 cataract 10.1
20 bile duct disease 10.0 CYP7A1 NR1H4 NR1I2
21 biliary tract disease 10.0 CYP7A1 NR1H4 NR1I2
22 tendinitis 10.0
23 cholesterol ester storage disease 9.9 APOB LDLRAP1
24 hepatitis 9.9
25 neuropathy 9.9
26 hypercholesterolemia, autosomal recessive 9.9 LDLR LDLRAP1
27 osteoporosis 9.9
28 mycosis fungoides 9.9
29 myeloma, multiple 9.9
30 lymphoma 9.9
31 dementia 9.9
32 diarrhea 9.9
33 fox-fordyce disease 9.9
34 polyneuropathy 9.9
35 cerebritis 9.9
36 lipid storage disease 9.9
37 aging 9.8
38 arthritis 9.8
39 epilepsy 9.8
40 dystonia 9.8
41 peripheral nervous system disease 9.8
42 biliary cirrhosis, primary, 1 9.7
43 rheumatoid arthritis 9.7
44 dermatitis, atopic 9.7
45 bone fracture 9.7
46 liver disease 9.7
47 lymphedema 9.7
48 primary biliary cirrhosis 9.7
49 oromandibular dystonia 9.7
50 cutaneous t cell lymphoma 9.7

Graphical network of the top 20 diseases related to Xanthomatosis:



Diseases related to Xanthomatosis
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Symptoms & Phenotypes for Xanthomatosis

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Symptoms via clinical synopsis from OMIM:

57
Skin:
giant xanthomas

Misc:
manifest in familial hypercholesterolemia


Clinical features from OMIM:

602247

Human phenotypes related to Xanthomatosis:

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

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 9.5 APOB APOE HMGCR LDLR LDLRAP1 LPA
2 Increased LDL uptake GR00340-A-1 8.8 APOE LDLR LPL

MGI Mouse Phenotypes related to Xanthomatosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.65 APOB APOE CYP27A1 CYP7A1 HMGCR LDLR
2 liver/biliary system MP:0005370 9.28 LDLR LPL NR1H4 NR1I2 APOB APOE
Sources

Drugs & Therapeutics for Xanthomatosis

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ezetimibe Approved Phase 3,Phase 2 163222-33-1 150311
2 Anticholesteremic Agents Phase 3,Phase 2
3 Antimetabolites Phase 3,Phase 2
4 Hypolipidemic Agents Phase 3,Phase 2
5 Lipid Regulating Agents Phase 3,Phase 2
6 Gamma-sitosterol Phase 3,Phase 2
7
chenodeoxycholic acid Approved Phase 2,Not Applicable 474-25-9 10133
8
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
9
Simethicone Approved Phase 2 8050-81-5
10 Cathartics Phase 2,Not Applicable
11 Dihydromevinolin Phase 2
12 Gastrointestinal Agents Phase 2,Not Applicable
13 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
14 L 647318 Phase 2
15 Laxatives Phase 2,Not Applicable
16 Dermatologic Agents Phase 2
17 Emollients Phase 2
18 Bile Acids and Salts Phase 2,Not Applicable
19 Liver Extracts Phase 2
20 Phytosterol Nutraceutical Phase 2,Not Applicable
21
Probucol Approved, Investigational 23288-49-5 4912
22 Calcium, Dietary
23 Antioxidants
24 Protective Agents
25 Soy Bean Nutraceutical Not Applicable

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Higher-Dose Ezetimibe to Treat Homozygous Sitosterolemia Completed NCT00099996 Phase 3 SCH-58235;Ezetimibe
2 Phase II Study of Cholesterol- and Cholestanol-Free Diet, Lovastatin, and Chenodeoxycholic Acid for Cerebrotendinous Xanthomatosis Unknown status NCT00004346 Phase 2 chenodeoxycholic acid;lovastatin
3 Gastric Preparation of Magnetic-controlled Capsule Endoscopy Unknown status NCT02846155 Phase 2 simethicone;simethicone combined with pronase
4 SCH-58235 (Ezetimibe) to Treat Homozygous Sitosterolemia Completed NCT00045812 Phase 2 SCH-58235
5 An Extension Study to Evaluate the Long-Term Safety and Durability of Effect of LUM001 in the Treatment of Cholestatic Liver Disease in Pediatric Participants With Alagille Syndrome Active, not recruiting NCT02117713 Phase 2 LUM001
6 Evaluation of Carotid IMT and Atherogenic Risk Factors in Patients With Cerebrotendinous Xanthomatosis Unknown status NCT01613898
7 Arterial Wall Calcium Load in Pseudoxanthoma Elasticum Unknown status NCT01731080
8 Soy Food Intervention Trial Unknown status NCT00924339 Not Applicable
9 Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia Completed NCT01878604
10 Effects of LDL Apheresis System on the Expression of Genes Involved in Lipoprotein Metabolism and Inflammation in Homozygotes for Familial Hypercholesterolemia Completed NCT02462655 Not Applicable
11 Study on the Efficacy and Safety of Oral Probucol Tablets in Patients With Hyperlipidemia - Post-Marketing Surveillance Completed NCT02730390
12 Cerebrotendinous Xanthomatosis (CTX) Prevalence Study Recruiting NCT02638220
13 A Registration Study for Familial Hypercholesterolemia in Taiwan Recruiting NCT03152656
14 Lp(a) and Aortic Valve Calcification Recruiting NCT02976818
15 Causes and Natural History of Dyslipidemias Recruiting NCT00353782
16 Prevalence of Familial Hypercholesterolaemia (FH) in Italian Patients With Coronary Artery Disease Recruiting NCT03520140
17 International Rare Histiocytic Disorders Registry (IRHDR) Recruiting NCT02285582
18 Clinical and Pathophysiological Investigations Into Erdheim Chester Disease Recruiting NCT01417520
19 Cholestanol in Humans Withdrawn NCT00018694 Not Applicable Chenodeoxycholic Acid

Search NIH Clinical Center for Xanthomatosis

Cochrane evidence based reviews: xanthomatosis

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Genetic Tests for Xanthomatosis

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Genetic tests related to Xanthomatosis:

# Genetic test Affiliating Genes
1 Xanthomatosis 29
Sources

Anatomical Context for Xanthomatosis

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MalaCards organs/tissues related to Xanthomatosis:

41
Liver, Brain, Bone, Testes, Skin, Spinal Cord, T Cells
Sources

Publications for Xanthomatosis

About this section

Articles related to Xanthomatosis:

(show top 50) (show all 611)
# Title Authors Year
1
Severe hypertriglyceridemia presenting as eruptive xanthomatosis. ( 29915775 )
2018
2
Segmental xanthomatosis of the ileum. ( 29366929 )
2018
3
Cerebrotendinous xanthomatosis: The diagnostic challenge. ( 29980286 )
2018
4
Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes. ( 29560583 )
2018
5
Liver transplantation due to cerebrotendinous xanthomatosis end-stage liver disease. ( 29796951 )
2018
6
Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment. ( 29260356 )
2018
7
Natural history of neurological abnormalities in cerebrotendinous xanthomatosis. ( 29484516 )
2018
8
A Case of Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene. ( 29434128 )
2018
9
Teaching NeuroImages: Cerebrotendinous xanthomatosis: A rare treatable adult-onset lipid storage disease. ( 29440550 )
2018
10
Severe xanthomatosis in heterozygous familial hypercholesterolemia. ( 29778561 )
2018
11
Usefulness of brain magnetic resonance in the diagnosis of cerebrotendinous xanthomatosis. ( 29599059 )
2018
12
Nationwide survey on cerebrotendinous xanthomatosis in Japan. ( 29321515 )
2018
13
Cerebrotendinous Xanthomatosis with Nodular-hypertrophy of the Lumbosacral Roots. ( 29321402 )
2018
14
Cerebrotendinous Xanthomatosis ataxia responsive to CDCA and Riluzole. ( 29731275 )
2018
15
Cytological diagnosis of cerebrotendinous xanthomatosis in two siblings presenting with bilateral ankle swellings and neurological decline. ( 29737592 )
2018
16
Cerebrotendinous xanthomatosis: early diagnosis on the basis of juvenile cataracts. ( 29079218 )
2017
17
A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios. ( 28314860 )
2017
18
Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families. ( 28623566 )
2017
19
Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX). ( 28980151 )
2017
20
Prominent Tendon Xanthomas and Abdominal Aortic Aneurysm Associated with Cerebrotendinous Xanthomatosis Identified Using Whole Exome Sequencing. ( 29269672 )
2017
21
Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey. ( 29058268 )
2017
22
Unique case of cerebrotendinous xanthomatosis revisited: All the mutations responsible for this disease are present in the CYP27A1 gene. ( 29095540 )
2017
23
The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression. ( 28324197 )
2017
24
Cerebellar Disease Mimicking Cerebrotendinous Xanthomatosis: Langerhans Cell Histiocytosis. ( 28554492 )
2017
25
Case 239: Cerebrotendinous Xanthomatosis. ( 28218883 )
2017
26
Teaching NeuroImages: Early-onset dementia and demyelinating neuropathy disclosing cerebrotendinous xanthomatosis. ( 28894038 )
2017
27
Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment. ( 28590052 )
2017
28
Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis. ( 28894950 )
2017
29
Bilateral Femoral Neck Fractures in Cerebrotendinous Xanthomatosis Treated by Hip Arthroplasties: The First Case Report and Literature Review. ( 29242796 )
2017
30
Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis: Genetics, Immunostaining, Mass Spectrometry. ( 28937538 )
2017
31
A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract. ( 28229379 )
2017
32
Xanthomatosis in bilateral hands mimicking rheumatoid arthritis: A case report. ( 29390551 )
2017
33
The role of dentate nuclei in human oculomotor control: insights from cerebrotendinous xanthomatosis. ( 28168705 )
2017
34
Sonographic Findings of Polyneuropathy Associated With Cerebrotendinous Xanthomatosis: A Case Report. ( 28503466 )
2017
35
Cerebrotendinous xanthomatosis and Marfan syndrome - A picturesque combination. ( 27625283 )
2016
36
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
37
Gastric Xanthomatosis: A Rare Presentation of a Common Disorder. ( 26905903 )
2016
38
Cerebrotendinous Xanthomatosis Without Skin Changes: Diagnostic Delay and Confirmation by Genetic Analysis. ( 27771677 )
2016
39
Pathophysiology of cerebrotendinous xanthomatosis. ( 27840382 )
2016
40
Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability. ( 27858369 )
2016
41
Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report. ( 27094915 )
2016
42
Cerebrotendinous xanthomatosis; a genetic condition: Clinical profile of three patients from a rural Indian family and review of literature. ( 27182150 )
2016
43
Induced pluripotent stem cells (iPSCs) derived from cerebrotendinous xanthomatosis (CTX) patient's fibroblasts carrying a R395S mutation. ( 27879219 )
2016
44
Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series. ( 27888347 )
2016
45
Cerebrotendinous Xanthomatosis: A Treatable Genetic Disease Not to Be Missed. ( 26906304 )
2016
46
Cerebrotendinous xanthomatosis. ( 27559524 )
2016
47
Blastic Plasmacytoid Dendritic Cell Neoplasm Associated with Dystrophic Xanthomatosis after Chemotherapy. ( 27535402 )
2016
48
The wide spectrum of cerebrotendinous xanthomatosis: Case report of a rare but treatable disease. ( 26874936 )
2016
49
Clinical Images: Dual-energy computed tomography-based molecular imaging of cholesterol deposits in Achilles tendon xanthomatosis. ( 26946224 )
2016
50
Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method. ( 27331003 )
2016
Sources

Variations for Xanthomatosis

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Expression for Xanthomatosis

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Search GEO for disease gene expression data for Xanthomatosis.
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Pathways for Xanthomatosis

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Pathways related to Xanthomatosis according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.65 APOB APOE CYP27A1 CYP7A1 HMGCR LDLR
2
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) 66
Show member pathways
 12.62 CYP7A1 HMGCR LPL NR1H4
3
Metabolism of water-soluble vitamins and cofactors 66
Show member pathways
 12.38 APOB APOE LDLR LPL
4
Clathrin-mediated endocytosis 66
Show member pathways
 12.12 APOB LDLR LDLRAP1
5
Folate Metabolism 1
Show member pathways
 12.07 APOB APOE LDLR
6
Metabolism of fat-soluble vitamins 66
Show member pathways
 12.04 APOB APOE LDLR LPL
7
Lipoprotein metabolism 66
Show member pathways
 11.97 APOB APOE LDLR LDLRAP1 LPA LPL
8
Synthesis of bile acids and bile salts 66
Show member pathways
 11.94 CYP27A1 CYP7A1 NR1H4
9
Sterol Regulatory Element-Binding Proteins (SREBP) signalling 1
11.5 HMGCR LDLR LPL
10
PPAR signaling pathway 37
11.47 CYP27A1 CYP7A1 LPL
11
Statin Pathway 1
Show member pathways
 11.35 APOB APOE CYP27A1 CYP7A1 HMGCR LDLR
12
Bile secretion 37
11.31 CYP7A1 HMGCR LDLR NR1H4
13
Metformin Pathway, Pharmacodynamics 61
11.12 HMGCR NR1I2
14
Nuclear Receptors in Lipid Metabolism and Toxicity 1
11.09 CYP7A1 NR1H4 NR1I2
15
A-beta Pathways: Uptake and Degradation 65
11.04 APOE LDLR
16
Farnesoid X Receptor Pathway 1
10.79 CYP7A1 NR1H4
17
SREBF and miR33 in cholesterol and lipid homeostasis 1
10.77 HMGCR LDLR
18
Drug Induction of Bile Acid Pathway 1
10.66 CYP7A1 NR1H4 NR1I2
Sources

GO Terms for Xanthomatosis

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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 45)
# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.88 APOB APOE LDLR LDLRAP1
2 lipid transport GO:0006869 9.85 APOB APOE LDLR LPA
3 membrane organization GO:0061024 9.83 APOB LDLR LDLRAP1
4 retinoid metabolic process GO:0001523 9.77 APOB APOE LPL
5 lipid homeostasis GO:0055088 9.74 APOE NR1H4 NR1I2
6 cholesterol metabolic process GO:0008203 9.73 APOB APOE CYP7A1 HMGCR LDLR LDLRAP1
7 cholesterol transport GO:0030301 9.71 APOB LDLR LDLRAP1
8 intracellular receptor signaling pathway GO:0030522 9.7 NR1H4 NR1I2
9 triglyceride homeostasis GO:0070328 9.7 APOE LPL NR1H4
10 steroid metabolic process GO:0008202 9.7 APOB APOE CYP7A1 HMGCR LDLR LDLRAP1
11 cholesterol biosynthetic process GO:0006695 9.69 APOE HMGCR
12 negative regulation of MAP kinase activity GO:0043407 9.69 APOE HMGCR
13 triglyceride metabolic process GO:0006641 9.69 APOE LPL
14 triglyceride catabolic process GO:0019433 9.69 APOB APOE LPL
15 long-term memory GO:0007616 9.68 APOE LDLR
16 regulation of cholesterol biosynthetic process GO:0045540 9.68 APOB HMGCR
17 response to lipid GO:0033993 9.68 NR1H4 NR1I2
18 bile acid biosynthetic process GO:0006699 9.68 CYP27A1 CYP7A1
19 sterol metabolic process GO:0016125 9.67 CYP27A1 CYP7A1
20 cholesterol efflux GO:0033344 9.67 APOB APOE
21 cellular response to fatty acid GO:0071398 9.67 LDLR NR1H4
22 low-density lipoprotein particle clearance GO:0034383 9.67 APOB LDLR LDLRAP1
23 positive regulation of endocytosis GO:0045807 9.66 APOE LDLR
24 artery morphogenesis GO:0048844 9.66 APOB APOE
25 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.65 APOB LPL
26 fatty acid homeostasis GO:0055089 9.65 APOE NR1H4
27 lipoprotein metabolic process GO:0042157 9.65 APOB APOE LDLR
28 lipid metabolic process GO:0006629 9.65 APOB APOE CYP7A1 HMGCR LDLR LDLRAP1
29 regulation of protein metabolic process GO:0051246 9.64 APOE LDLR
30 amyloid precursor protein metabolic process GO:0042982 9.64 APOE LDLRAP1
31 cholesterol catabolic process GO:0006707 9.63 APOE CYP7A1
32 chylomicron assembly GO:0034378 9.63 APOB APOE
33 low-density lipoprotein particle remodeling GO:0034374 9.63 APOB APOE LPA
34 very-low-density lipoprotein particle remodeling GO:0034372 9.62 APOE LPL
35 positive regulation of cholesterol storage GO:0010886 9.62 APOB LPL
36 lipoprotein biosynthetic process GO:0042158 9.61 APOB APOE
37 very-low-density lipoprotein particle clearance GO:0034447 9.61 APOB APOE
38 regulation of cholesterol metabolic process GO:0090181 9.61 APOE LDLR NR1H4
39 regulation of bile acid biosynthetic process GO:0070857 9.59 CYP7A1 NR1H4
40 receptor-mediated endocytosis involved in cholesterol transport GO:0090118 9.58 LDLR LDLRAP1
41 chylomicron remodeling GO:0034371 9.58 APOB APOE LPL
42 response to caloric restriction GO:0061771 9.56 APOE LDLR
43 chylomicron remnant clearance GO:0034382 9.54 APOB APOE LDLR
44 lipoprotein catabolic process GO:0042159 9.5 APOB APOE LDLR
45 cholesterol homeostasis GO:0042632 9.23 APOB APOE CYP7A1 LDLR LDLRAP1 LPL

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 lipid binding GO:0008289 9.62 APOB APOE NR1H4 NR1I2
2 nuclear receptor activity GO:0004879 9.51 NR1H4 NR1I2
3 transcription factor activity, RNA polymerase II transcription factor binding GO:0001076 9.49 NR1H4 NR1I2
4 steroid hydroxylase activity GO:0008395 9.48 CYP27A1 CYP7A1
5 lipid transporter activity GO:0005319 9.46 APOB APOE
6 cholesterol transporter activity GO:0017127 9.43 APOB APOE
7 transcription factor activity, direct ligand regulated sequence-specific DNA binding GO:0098531 9.4 NR1H4 NR1I2
8 apolipoprotein binding GO:0034185 9.37 LPA LPL
9 amyloid-beta binding GO:0001540 9.33 APOE LDLR LDLRAP1
10 thyroid hormone receptor activity GO:0004887 9.26 NR1H4 NR1I2
11 heparin binding GO:0008201 9.26 APOB APOE LPA LPL
12 low-density lipoprotein particle receptor binding GO:0050750 8.8 APOB APOE LDLRAP1
Sources

Sources for Xanthomatosis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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