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MCID: XNT003
MIFTS: 51

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 Vesicle-mediated transport. The drugs Ezetimibe and Hypolipidemic Agents have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and bone, and related phenotypes are hypercholesterolemia and xanthomatosis

Wikipedia : 76 A xanthoma (pl. xanthomas or xanthomata) (condition: xanthomatosis), from Greek, Modern ξανθ�?�?... more...

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 161)
# Related Disease Score Top Affiliating Genes
1 cerebrotendinous xanthomatosis 34.1 CYP27A1 CYP7A1 HMGCR NR1I2
2 sitosterolemia 32.1 APOB CYP27A1 CYP7A1 HMGCR
3 hypercholesterolemia, familial 31.0 APOB APOE CYP7A1 HMGCR LDLR LDLRAP1
4 hyperlipoproteinemia, type iii 30.8 APOB APOE HMGCR LDLR LPA LPL
5 xanthoma disseminatum 30.0 APOB APOE
6 coronary artery anomaly 29.6 APOB HMGCR LPA LPL
7 arteries, anomalies of 29.6 APOB APOE LDLR LPA
8 heart disease 29.6 APOB APOE LDLR LPL
9 diabetes mellitus 29.6 APOB HMGCR LPA LPL
10 smith-lemli-opitz syndrome 29.4 APOE HMGCR LDLR
11 myocardial infarction 29.3 APOB APOE HMGCR LDLR LPA
12 atherosclerosis susceptibility 29.2 APOB APOE LDLR LPA
13 hyperlipoproteinemia, type v 29.1 APOB APOE HMGCR LPL
14 coronary heart disease 1 29.0 APOB APOE HMGCR LDLR LPA LPL
15 familial hyperlipidemia 28.8 APOB APOE HMGCR LDLR LPA LPL
16 vascular disease 28.6 APOB APOE HMGCR LDLR LPA LPL
17 lysosomal acid lipase deficiency 11.8
18 leukodystrophy 11.4
19 familial lipoprotein lipase deficiency 11.0
20 lysosomal and lipase deficiency 10.1 APOB LDLRAP1
21 myeloma, multiple 10.1
22 cataract 10.1
23 lymphedema 10.1
24 fox-fordyce disease 10.1
25 neuropathy 10.1
26 cholesterol ester storage disease 10.0 APOB LDLRAP1
27 osteoporosis 10.0
28 mycosis fungoides 10.0
29 lymphoma 10.0
30 dementia 10.0
31 diarrhea 10.0
32 cholestasis 10.0
33 polyneuropathy 10.0
34 lipid storage disease 10.0
35 schnyder corneal dystrophy 10.0 APOB APOE
36 chronic kidney failure 10.0 APOB HMGCR LPA
37 hemorrhage, intracerebral 10.0 APOE HMGCR
38 hyperlipidemia, combined, 1 10.0 APOB LPL
39 langerhans cell histiocytosis 9.9
40 arthritis 9.9
41 epilepsy 9.9
42 histiocytosis 9.9
43 dystonia 9.9
44 peripheral nervous system disease 9.9
45 diabetes insipidus 9.9
46 huntington disease-like 1 9.9 APOB APOE LPA
47 leukodystrophy, hypomyelinating, 3 9.9 APOB APOE LPA
48 hypercholesterolemia, autosomal recessive 9.9 LDLR LDLRAP1
49 hyperlipoproteinemia, type iv 9.9 APOB LPL
50 bile duct disease 9.9 CYP7A1 NR1I2

Graphical network of the top 20 diseases related to Xanthomatosis:



Diseases related to Xanthomatosis
Sources

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 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
# 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 9.85 APOB APOE CYP27A1 CYP7A1 HMGCR LDLR
2 liver/biliary system MP:0005370 9.56 APOB APOE CYP27A1 CYP7A1 HMGCR LDLR
3 mortality/aging MP:0010768 9.23 APOB APOE CYP7A1 HMGCR LDLR LPL
Sources

Drugs & Therapeutics for Xanthomatosis

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

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ezetimibe Approved Phase 3,Phase 2 163222-33-1 150311
2 Hypolipidemic Agents Phase 3,Phase 2
3 Lipid Regulating Agents Phase 3,Phase 2
4 Anticholesteremic Agents Phase 3,Phase 2
5 Antimetabolites 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 L 647318 Phase 2
11 Dihydromevinolin Phase 2
12 Cathartics Phase 2,Not Applicable
13 Gastrointestinal Agents Phase 2,Not Applicable
14 Laxatives Phase 2,Not Applicable
15 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
16 Dermatologic Agents Phase 2
17 Emollients Phase 2
18 Phytosterol Phase 2,Not Applicable
19 Pharmaceutical Solutions Phase 2
20 Liver Extracts Phase 2
21 Bile Acids and Salts Phase 2,Not Applicable
22
Probucol Approved, Investigational 23288-49-5 4912
23 Calcium, Dietary
24 Soy Bean Not Applicable
25 Antioxidants
26 Protective Agents

Interventional clinical trials:

(show all 20)
# 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 Subjects With Alagille Syndrome Active, not recruiting NCT02117713 Phase 2 LUM001
6 Safety and Efficacy Study of LUM001 With a Drug Withdrawal Period in Participants With Alagille Syndrome (ALGS) Active, not recruiting NCT02160782 Phase 2 LUM001;Placebo
7 Evaluation of Carotid IMT and Atherogenic Risk Factors in Patients With Cerebrotendinous Xanthomatosis Unknown status NCT01613898
8 A Registration Study for Familial Hypercholesterolemia in Taiwan Unknown status NCT03152656
9 Arterial Wall Calcium Load in Pseudoxanthoma Elasticum Unknown status NCT01731080
10 Soy Food Intervention Trial Unknown status NCT00924339 Not Applicable
11 Cerebrotendinous Xanthomatosis (CTX) Prevalence Study Recruiting NCT02638220
12 The Prevalence of CTX Disorder in Juvenile Cataract Cases in Turkey Recruiting NCT03584893
13 Cholestanol in Humans Withdrawn NCT00018694 Not Applicable Chenodeoxycholic Acid
14 Gene Analysis and Treatment Optimization in Chinese Homozygous Familial Hypercholesterolemia Completed NCT01878604
15 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
16 Lp(a) and Aortic Valve Calcification Recruiting NCT02976818
17 Causes and Natural History of Dyslipidemias Recruiting NCT00353782
18 Study on the Efficacy and Safety of Oral Probucol Tablets in Patients With Hyperlipidemia - Post-Marketing Surveillance Completed NCT02730390
19 Prevalence of Familial Hypercholesterolaemia (FH) in Italian Patients With Coronary Artery Disease Completed NCT03520140
20 International Rare Histiocytic Disorders Registry (IRHDR) Recruiting NCT02285582

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
Skin, Brain, Bone, Liver, Testes, Heart, T Cells
Sources

Publications for Xanthomatosis

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Articles related to Xanthomatosis:

(show top 50) (show all 854)
# 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
Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis. ( 30017468 )
2018
17
Movement disorders in cerebrotendinous xanthomatosis. ( 30054180 )
2018
18
Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment. ( 30135217 )
2018
19
Cerebrotendinous xanthomatosis presenting with extensive cerebral cortex symptoms: A case report. ( 30278298 )
2018
20
Cerebrotendinous xanthomatosis: The rare "treatable" disease you never consider. ( 30530794 )
2018
21
Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start. ( 30530799 )
2018
22
Fox-Fordyce disease: report of two cases with perifollicular xanthomatosis on histological image. ( 30066765 )
2018
23
Halo formations around senile hemangiomas in diffuse plane normolipemic xanthomatosis associated with monoclonal gammopathy. ( 30456279 )
2018
24
Inflammasome Activation Aggravates Cutaneous Xanthomatosis and Atherosclerosis in ACAT1 (Acyl-CoA Cholesterol Acyltransferase 1) Deficiency in Bone Marrow. ( 30354239 )
2018
25
Cerebrotendinous xanthomatosis: early diagnosis on the basis of juvenile cataracts. ( 29079218 )
2017
26
A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios. ( 28314860 )
2017
27
Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families. ( 28623566 )
2017
28
Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX). ( 28980151 )
2017
29
Prominent Tendon Xanthomas and Abdominal Aortic Aneurysm Associated with Cerebrotendinous Xanthomatosis Identified Using Whole Exome Sequencing. ( 29269672 )
2017
30
Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey. ( 29058268 )
2017
31
Unique case of cerebrotendinous xanthomatosis revisited: All the mutations responsible for this disease are present in the CYP27A1 gene. ( 29095540 )
2017
32
The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression. ( 28324197 )
2017
33
Cerebellar Disease Mimicking Cerebrotendinous Xanthomatosis: Langerhans Cell Histiocytosis. ( 28554492 )
2017
34
Case 239: Cerebrotendinous Xanthomatosis. ( 28218883 )
2017
35
Teaching NeuroImages: Early-onset dementia and demyelinating neuropathy disclosing cerebrotendinous xanthomatosis. ( 28894038 )
2017
36
Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment. ( 28590052 )
2017
37
Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis. ( 28894950 )
2017
38
Bilateral Femoral Neck Fractures in Cerebrotendinous Xanthomatosis Treated by Hip Arthroplasties: The First Case Report and Literature Review. ( 29242796 )
2017
39
Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis: Genetics, Immunostaining, Mass Spectrometry. ( 28937538 )
2017
40
A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract. ( 28229379 )
2017
41
Xanthomatosis in bilateral hands mimicking rheumatoid arthritis: A case report. ( 29390551 )
2017
42
The role of dentate nuclei in human oculomotor control: insights from cerebrotendinous xanthomatosis. ( 28168705 )
2017
43
Sonographic Findings of Polyneuropathy Associated With Cerebrotendinous Xanthomatosis: A Case Report. ( 28503466 )
2017
44
Cerebrotendinous xanthomatosis and Marfan syndrome - A picturesque combination. ( 27625283 )
2016
45
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
46
Gastric Xanthomatosis: A Rare Presentation of a Common Disorder. ( 26905903 )
2016
47
Cerebrotendinous Xanthomatosis Without Skin Changes: Diagnostic Delay and Confirmation by Genetic Analysis. ( 27771677 )
2016
48
Pathophysiology of cerebrotendinous xanthomatosis. ( 27840382 )
2016
49
Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability. ( 27858369 )
2016
50
Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report. ( 27094915 )
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.
Sources

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
 13.72 APOB APOE CYP27A1 CYP7A1 HMGCR LDLR
2
Vesicle-mediated transport 66
Show member pathways
 13.05 APOB APOE LDLR LDLRAP1 MSR1
3
Metabolism of water-soluble vitamins and cofactors 66
Show member pathways
 12.39 APOB APOE LDLR LPL
4
Clathrin-mediated endocytosis 66
Show member pathways
 12.12 APOB LDLR LDLRAP1
5
Selenium Micronutrient Network 1
Show member pathways
 12.03 APOB APOE LDLR
6
Lipoprotein metabolism 66
Show member pathways
 11.97 APOB APOE LDLR LDLRAP1 LPA LPL
7
Metabolism of fat-soluble vitamins 66
Show member pathways
 11.89 APOB APOE LDLR LPL
8
Binding and Uptake of Ligands by Scavenger Receptors 66
Show member pathways
 11.65 APOB APOE MSR1
9
PPAR signaling pathway 37
11.45 CYP27A1 CYP7A1 LPL
10
Sterol Regulatory Element-Binding Proteins (SREBP) signalling 1
11.41 HMGCR LDLR LPL
11
Bile secretion 37
11.35 CYP7A1 HMGCR LDLR
12
Statin Pathway 1
Show member pathways
 11.35 APOB APOE CYP27A1 CYP7A1 HMGCR LDLR
13
amb2 Integrin signaling 1
11.26 APOB LPA
14
Metformin Pathway, Pharmacodynamics 61
11.11 HMGCR NR1I2
15
Nuclear Receptors in Lipid Metabolism and Toxicity 1
11.08 CYP7A1 NR1I2
16
A-beta Pathways: Uptake and Degradation 65
10.84 APOE LDLR MSR1
17
SREBF and miR33 in cholesterol and lipid homeostasis 1
10.79 HMGCR LDLR
18
Drug Induction of Bile Acid Pathway 1
10.73 CYP7A1 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 chylomicron GO:0042627 9.13 APOB APOE LPL
7 low-density lipoprotein particle GO:0034362 8.92 APOB APOE LDLR MSR1

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

(show all 44)
# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.88 APOB APOE LDLR LDLRAP1 MSR1
2 negative regulation of gene expression GO:0010629 9.87 APOE LDLR MSR1
3 lipid transport GO:0006869 9.86 APOB APOE LDLR LPA
4 lipid metabolic process GO:0006629 9.86 APOB APOE CYP7A1 HMGCR LDLR LDLRAP1
5 endocytosis GO:0006897 9.85 LDLR LDLRAP1 MSR1
6 membrane organization GO:0061024 9.82 APOB LDLR LDLRAP1
7 triglyceride catabolic process GO:0019433 9.72 APOB APOE LPL
8 lipoprotein metabolic process GO:0042157 9.71 APOB APOE LDLR
9 low-density lipoprotein particle clearance GO:0034383 9.7 APOB LDLR LDLRAP1
10 cholesterol biosynthetic process GO:0006695 9.69 APOE HMGCR
11 negative regulation of MAP kinase activity GO:0043407 9.69 APOE HMGCR
12 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.69 APOB LPL MSR1
13 triglyceride metabolic process GO:0006641 9.68 APOE LPL
14 regulation of cholesterol biosynthetic process GO:0045540 9.68 APOB HMGCR
15 long-term memory GO:0007616 9.68 APOE LDLR
16 triglyceride homeostasis GO:0070328 9.68 APOE LPL
17 bile acid biosynthetic process GO:0006699 9.67 CYP27A1 CYP7A1
18 sterol metabolic process GO:0016125 9.67 CYP27A1 CYP7A1
19 low-density lipoprotein particle remodeling GO:0034374 9.67 APOB APOE LPA
20 cholesterol transport GO:0030301 9.67 APOB LDLR LDLRAP1 MSR1
21 positive regulation of endocytosis GO:0045807 9.66 APOE LDLR
22 cholesterol efflux GO:0033344 9.66 APOB APOE
23 lipoprotein transport GO:0042953 9.65 APOB MSR1
24 artery morphogenesis GO:0048844 9.65 APOB APOE
25 regulation of cholesterol metabolic process GO:0090181 9.64 APOE LDLR
26 amyloid-beta clearance GO:0097242 9.64 LDLR MSR1
27 cholesterol catabolic process GO:0006707 9.63 APOE CYP7A1
28 regulation of protein metabolic process GO:0051246 9.63 APOE LDLR
29 chylomicron remnant clearance GO:0034382 9.63 APOB APOE LDLR
30 cholesterol homeostasis GO:0042632 9.63 APOB APOE CYP7A1 LDLR LDLRAP1 LPL
31 amyloid precursor protein metabolic process GO:0042982 9.62 APOE LDLRAP1
32 chylomicron assembly GO:0034378 9.62 APOB APOE
33 high-density lipoprotein particle clearance GO:0034384 9.61 APOE LDLR
34 very-low-density lipoprotein particle remodeling GO:0034372 9.61 APOE LPL
35 chylomicron remodeling GO:0034371 9.61 APOB APOE LPL
36 lipoprotein biosynthetic process GO:0042158 9.6 APOB APOE
37 very-low-density lipoprotein particle clearance GO:0034447 9.59 APOB APOE
38 plasma lipoprotein particle clearance GO:0034381 9.58 LDLR MSR1
39 receptor-mediated endocytosis involved in cholesterol transport GO:0090118 9.58 LDLR LDLRAP1
40 positive regulation of cholesterol storage GO:0010886 9.58 APOB LPL MSR1
41 response to caloric restriction GO:0061771 9.57 APOE LDLR
42 lipoprotein catabolic process GO:0042159 9.5 APOB APOE LDLR
43 cholesterol metabolic process GO:0008203 9.43 APOB APOE CYP7A1 HMGCR LDLR LDLRAP1
44 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 heparin binding GO:0008201 9.46 APOB APOE LPA LPL
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 low-density lipoprotein particle binding GO:0030169 9.26 LDLR MSR1
6 low-density lipoprotein particle receptor binding GO:0050750 9.13 APOB APOE LDLRAP1
7 amyloid-beta binding GO:0001540 8.92 APOE LDLR LDLRAP1 MSR1
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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