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MCID: XNT003
MIFTS: 49

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 54 44 15 71
Xanthomatosis, Susceptibility to 57
Xanthelasmatosis 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
? autosomal dominant


HPO:

31
xanthomatosis:
Inheritance autosomal dominant inheritance


Classifications:

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


External Ids:

Disease Ontology 12 DOID:3345
OMIM® 57 602247
MeSH 44 D014973
SNOMED-CT 67 63103006
MedGen 41 C1865704
SNOMED-CT via HPO 68 13644009 166830008 263681008
UMLS 71 C0043325
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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 xanthoma disseminatum and familial lipoprotein lipase deficiency, 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 chenodeoxycholic acid and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and skin, and related phenotypes are hypercholesterolemia and xanthomatosis

Wikipedia : 74 A xanthoma (pl. xanthomas or xanthomata) (condition: xanthomatosis), from Greek ξανθός (xanthós)... more...

More information 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 310)
# Related Disease Score Top Affiliating Genes
1 xanthoma disseminatum 32.0 APOE APOB
2 familial lipoprotein lipase deficiency 31.5 LPL APOE APOB
3 hypercholesterolemia, familial, 4 31.0 LDLRAP1 LDLR APOB
4 cerebrotendinous xanthomatosis 31.0 VCL NR1I2 NR1H4 NR1H3 HNF4A HMGCR
5 sitosterolemia 31.0 LDLRAP1 HMGCR CYP7A1 CYP27A1 APOB ABCA1
6 lipid storage disease 30.9 NR1H4 CYP7A1 CYP27A1 APOB
7 hyperlipoproteinemia, type iii 30.7 LPL LPA LDLR HMGCR APOE APOB
8 hypercholesterolemia, familial, 1 30.2 NR1H4 LPL LPA LDLRAP1 LDLR HMGCR
9 arteriosclerosis 30.1 LPA HMGCR APOE APOB
10 cholestasis 30.1 NR1I2 NR1H4 HNF4A CYP7A1 CYP27A1
11 hypertriglyceridemia, familial 30.1 LPL APOE APOB
12 hyperlipoproteinemia, type v 30.0 LPL HMGCR APOE APOB
13 cholangitis, primary sclerosing 29.9 NR1I2 NR1H4 CYP7A1
14 generalized atherosclerosis 29.9 APOE APOB
15 cholelithiasis 29.8 NR1H4 CYP7A1 APOE
16 primary biliary cholangitis 29.7 NR1I2 NR1H4 CYP7A1 ABCA1
17 hyperlipoproteinemia, type i 29.7 LPL LPA APOE APOB
18 coronary stenosis 29.6 LPL APOE APOB
19 familial hypercholesterolemia 29.6 LPL LPA LDLRAP1 LDLR HMGCR CYP7A1
20 hypolipoproteinemia 29.4 LPL LPA APOE APOB ABCA1
21 coronary heart disease 1 29.3 LPL LPA LDLR HMGCR APOE APOB
22 hyperalphalipoproteinemia 1 29.2 LPL LDLR APOB
23 atherosclerosis susceptibility 29.1 MSR1 LPL LPA HMGCR APOE APOB
24 vascular disease 29.1 NR1H4 LPL LPA HMGCR APOE APOB
25 hyperlipidemia, familial combined, 3 28.9 LPL LDLR HMGCR APOE APOB
26 non-alcoholic fatty liver disease 28.7 NR1H4 NR1H3 MSR1 LPL HMGCR APOE
27 myocardial infarction 28.6 LPL LPA HMGCR APOE APOB ABCA1
28 homozygous familial hypercholesterolemia 28.6 LDLRAP1 LDLR HMGCR APOE APOB ABCA1
29 inherited metabolic disorder 28.6 NR1H4 LPL HMGCR CYP7A1 CRYAA APOE
30 smith-lemli-opitz syndrome 28.4 LDLR HMGCR CYP27A1 CRYAA APOE ABCA1
31 familial hyperlipidemia 28.3 NR1H4 LPL LPA LDLR HMGCR APOE
32 lipoprotein quantitative trait locus 28.3 LPL LPA LDLRAP1 LDLR HMGCR APOE
33 heart disease 28.1 LPL LPA LDLR HMGCR APOE APOB
34 diabetes mellitus 28.0 LPL LPA HNF4A HMGCR CYP7A1 CYP27B1
35 lipid metabolism disorder 27.8 NR1H4 LPL LPA LDLR HNF4A HMGCR
36 lysosomal acid lipase deficiency 11.4
37 leukodystrophy 11.0
38 cataract 10.7
39 ataxia and polyneuropathy, adult-onset 10.5
40 neuropathy 10.5
41 peripheral nervous system disease 10.5
42 autosomal recessive disease 10.4
43 diarrhea 10.4
44 alzheimer disease 10 10.3 FDX1 APOE
45 parkinsonism 10.3
46 malignant choroid melanoma 10.3 CYP27B1 CYP27A1
47 functional diarrhea 10.3 NR1H4 CYP7A1
48 polyneuropathy 10.3
49 liver cirrhosis 10.3
50 spastic paraparesis 10.2

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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Human phenotypes related to Xanthomatosis:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skin:
giant xanthomas

Misc:
manifest in familial hypercholesterolemia

Clinical features from OMIM®:

602247 (Updated 05-Mar-2021)

UMLS symptoms related to Xanthomatosis:


macule

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.06 NR1I2
2 Decreased viability GR00221-A-2 10.06 NR1H4 NR1I2
3 Decreased viability GR00221-A-4 10.06 NR1H4
4 Decreased viability GR00249-S 10.06 CRYAA MSR1 NR1H4 VCL
5 Decreased viability GR00301-A 10.06 NR1I2
6 Decreased viability GR00386-A-1 10.06 APOB APOE HNF4A LPL
7 Decreased viability GR00402-S-2 10.06 ABCA1 CRYAA LDLR
8 Decreased free cholesterol GR00340-A-2 9.32 ABCA1 LDLR
9 Decreased LDL uptake GR00340-A-1 9.26 LDLR LPL
10 Reduced mammosphere formation GR00396-S 9.23 CYP27B1 FLNC HMGCR HNF4A LDLR NR1H3
11 Increased the percentage of infected cells GR00402-S-1 8.65 FDX1

MGI Mouse Phenotypes related to Xanthomatosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.28 ABCA1 APOB APOE CYP27A1 CYP7A1 FDX1
2 cellular MP:0005384 10.18 ABCA1 APOB APOE CYP27B1 HMGCR HNF4A
3 growth/size/body region MP:0005378 10.17 ABCA1 APOB APOE CYP27A1 CYP27B1 CYP7A1
4 homeostasis/metabolism MP:0005376 10.16 ABCA1 APOB APOE CYP27A1 CYP27B1 CYP7A1
5 liver/biliary system MP:0005370 9.93 ABCA1 APOB APOE CYP27A1 CYP7A1 HMGCR
6 digestive/alimentary MP:0005381 9.91 ABCA1 APOE CYP27A1 CYP7A1 LDLR NR1H4
7 mortality/aging MP:0010768 9.83 ABCA1 APOB APOE CYP7A1 FDX1 FLNC
8 muscle MP:0005369 9.28 ABCA1 APOB APOE FDX1 FLNC LDLR
Sources

Drugs & Therapeutics for Xanthomatosis

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

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
chenodeoxycholic acid Approved Phase 3 474-25-9 10133
2
tannic acid Approved Phase 3 1401-55-4
3
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
4 Cathartics Phase 3
5 Gastrointestinal Agents Phase 3
6 Laxatives Phase 3
7
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
8 Dihydromevinolin Phase 2
9 L 647318 Phase 2
10 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
11 Antimetabolites Phase 2
12 Hypolipidemic Agents Phase 2
13 Lipid Regulating Agents Phase 2
14 Anticholesteremic Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 3 Study to Evaluate the Effects of Chenodeoxycholic Acid in Adult and Pediatric Patients With Cerebrotendinous Xanthomatosis Recruiting NCT04270682 Phase 3 Blinded CDCA 250 mg TID;Placebo;Open-Label CDCA 250 mg TID;Rescue Medication CDCA 250 mg TID;CDCA Weight-Based Dose TID
2 Effects of Diet and Medication in Patients With Cerebrotendinous Xanthomatosis (CTX) Unknown status NCT00004346 Phase 2 chenodeoxycholic acid;lovastatin
3 An Observational, Multicenter Study of the Prevalence of Cerebrotendinous Xanthomatosis (CTX) in Patient Populations Diagnosed With Early-Onset Idiopathic Bilateral Cataracts Unknown status NCT02638220
4 Evaluation of Carotid IMT and Atherogenic Risk Factors in Patients With Cerebrotendinous Xanthomatosis Unknown status NCT01613898
5 An Observational Study With Retrospective and Prospective Evaluations to Determine the Prevalence of Cerebrotendinous Xanthomatosis (CTX) Disorder in Juvenile Cataract Cases in Turkey Recruiting NCT03584893
6 International Rare Histiocytic Disorders Registry (IRHDR) Recruiting NCT02285582
7 A Study on the Prevalence of Mutation of Cerebrotendinous Xanthomatosis (CTX) in Families With Kinship Bonds and at Least One Homozygous Patient Enrolling by invitation NCT04218006
8 An Epidemiological Observational Study for Retrospective and Prospective Evaluation of for the Prevalence of Cerebrotendinous Xanthomatosis (CTX) Disease in Neurology and Pediatric Metabolism Clinics in Turkey Suspended NCT04113083
9 Biologic Significance of Cholestanol in Man Withdrawn NCT00018694 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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Anatomical Context for Xanthomatosis

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MalaCards organs/tissues related to Xanthomatosis:

40
Bone, Liver, Skin, Brain, Heart, Bone Marrow, Spinal Cord
Sources

Publications for Xanthomatosis

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Articles related to Xanthomatosis:

(show top 50) (show all 1614)
# Title Authors PMID Year
1
A xanthomatosis-susceptibility gene may exist in a Syrian family with familial hypercholesterolemia. 61 57
9412789 1997
2
Alipogene tiparvovec, an adeno-associated virus encoding the Ser(447)X variant of the human lipoprotein lipase gene for the treatment of patients with lipoprotein lipase deficiency. 54 61
20072945 2009
3
Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia. 54 61
16183066 2006
4
A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia. 54 61
15599766 2005
5
Molecular mechanisms of autosomal recessive hypercholesterolemia. 61 54
12642779 2003
6
Increased atherosclerosis in hyperlipidemic mice with inactivation of ABCA1 in macrophages. 54 61
11950702 2002
7
Pathophysiology of apolipoprotein E deficiency in mice: relevance to apo E-related disorders in humans. 54 61
11726538 2001
8
Identification of a gamma-interferon-responsive element in the promoter of the human macrophage scavenger receptor A gene. 54 61
11348881 2001
9
Concentrations of the atherogenic Lp(a) are elevated in FH. 54 61
9781014 1998
10
[Pregnancy in patient with familial hypercholesterolemia and atherosclerosis disease]. 61 54
9435357 1997
11
Severe xanthomatosis associated with familial apolipoprotein E deficiency. 61 54
9038735 1996
12
Characterization of a novel variant of apolipoprotein E, E2 Fukuoka (Arg-224 --> Gln) in a hyperlipidemic patient with xanthomatosis. 61 54
8664327 1996
13
Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous Xanthomatosis. 61
33400472 2021
14
Small intestinal xanthomatosis leading to dysmotility. 61
33559249 2021
15
Cerebrotendinous Xanthomatosis: diversity of presentation and refining treatment with chenodeoxycholic acid. 61
33509302 2021
16
Progressive Myoclonic Epilepsy'-like presentation of Cerebrotendinous Xanthomatosis in an Indian Family with A Novel C.646+1G>A Splice Site Mutation. 61
33458645 2021
17
Cholestasis as a dominating symptom of patients with CYP27A1 mutations: An analysis of 17 Chinese infants. 61
33414089 2021
18
Unique Variant of Cerebrotendinous Xanthomatosis Presenting With Eyelid Involvement Due to Heterozygous CYP7A1 and SLC10A1 Gene Mutations. 61
33298707 2020
19
Cerebrotendinous xanthomatosis: A report of 3 cases. 61
33294542 2020
20
Double trouble: a case of an ataxic young man with coeliac disease and cerebrotendinous xanthomatosis. 61
33370991 2020
21
Diffuse (Generalized) Plane Xanthoma Misdiagnosed as Carotenoderma: Usefulness of Reflectance Confocal Microscopy. 61
32732688 2020
22
Xanthoma disseminatum: rare normolipidaemic mucocutaneous xanthomatosis. 61
33145791 2020
23
Movement disorders in the early-diagnosed cerebrotendinous xanthomatosis: An electrophysiological study. 61
32927342 2020
24
Cerebrotendinous xanthomatosis-associated diarrhea and response to chenodeoxycholic acid treatment. 61
33204601 2020
25
Cerebrotendinous xanthomatosis with peripheral neuropathy: a clinical and neurophysiological study in Chinese population. 61
33313117 2020
26
A case with familial hypercholesterolemia complicated with severe systemic atherosclerosis intensively treated for more than 30 years. 61
33133313 2020
27
Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review. 61
33269283 2020
28
Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots. 61
32523054 2020
29
An Optimized NMR Stripline for Sensitive Supercritical Fluid Chromatography-Nuclear Magnetic Resonance of Microliter Sample Volumes. 61
32865394 2020
30
A Late-onset and Relatively Rapidly Progressive Case of Pure Spinal Form Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene. 61
32581172 2020
31
A case of effort angina complicated with cerebrotendinous xanthomatosis involving severe coronary artery calcification and the detection of a calcified nodule on optical coherence tomography. 61
32043212 2020
32
A novel mutation in the CYP27A1 gene in a family with cerebrotendinous xanthomatosis. 61
31914338 2020
33
Diffuse Gastric Xanthomatosis. 61
31401362 2020
34
Teaching NeuroImages: Spinal xanthomatosis: A misdiagnosed, treatable cause of progressive myelopathy. 61
32636326 2020
35
Multifocal, hypoechogenic nerve thickening in Cerebrotendinous Xanthomatosis. 61
32531740 2020
36
Misdiagnosis of CTX due to propofol: The interference of total intravenous propofol anaesthesia with bile acid profiling. 61
31990370 2020
37
High occurrence rate of xanthomatosis and nephrocalcinosis in aquarium-housed Atlantic wolffish Anarhichas lupus and spotted wolffish A. minor. 61
32495748 2020
38
A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis. 61
32229667 2020
39
A Neuropsychological Profile for Cerebrotendinous Xanthomatosis: A Single-Case Study. 61
31896378 2020
40
The safety and effectiveness of chenodeoxycholic acid treatment in patients with cerebrotendinous xanthomatosis: two retrospective cohort studies. 61
31863326 2020
41
Spontaneous Coronary Artery Dissection in a Patient with Cerebrotendinous Xanthomatosis. 61
32935759 2020
42
Multi-imaging study in a patient with cerebrotendinous xanthomatosis: radiology, clinic and pathology correlation of a rare condition. 61
32201602 2020
43
Levels of 7alpha-hydroxycholesterol and/or 7alpha-hydroxy-4-cholest-3-one are the optimal biochemical markers for the evaluation of treatment of cerebrotendinous xanthomatosis. 61
31781930 2020
44
Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal Cholestasis. 61
32766184 2020
45
Parkinsonism with Normal Dopaminergic Presynaptic Terminals in Cerebrotendinous Xanthomatosis. 61
31970228 2020
46
c.1263+1G>A Is a Latent Hotspot for CYP27A1 Mutations in Chinese Patients With Cerebrotendinous Xanthomatosis. 61
32714376 2020
47
Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature. 61
33520900 2020
48
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies. 61
31829048 2020
49
Prevalence of oropharyngeal dysphagia in hereditary spastic paraplegias. 61
31939580 2019
50
A case of Cerebrotendinous Xanthomatosis with spinal cord involvement and without tendon xanthomas: identification of a new mutation of the CYP27A1 gene. 61
31875301 2019
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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 19)
# Super pathways Score Top Affiliating Genes
1
Metabolism 65
Show member pathways
 13.82 NR1H4 NR1H3 LPL LPA LDLRAP1 LDLR
2
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) 65
Show member pathways
 12.74 NR1H4 LPL HMGCR CYP7A1 ABCA1
3
Metabolism of water-soluble vitamins and cofactors 65
Show member pathways
 12.51 LPL LDLR CYP27B1 APOE APOB
4
Lipoprotein metabolism 65
Show member pathways
 12.29 NR1H3 LPL LPA LDLRAP1 LDLR APOE
5
Folate Metabolism 1
Show member pathways
 12.16 LDLR APOE APOB ABCA1
6
Metabolism of fat-soluble vitamins 65
Show member pathways
 12.16 LPL LDLR CYP27B1 APOE APOB
7
Binding and Uptake of Ligands by Scavenger Receptors 65
Show member pathways
 11.77 MSR1 APOE APOB
8
Nuclear Receptor transcription pathway 65
Show member pathways
 11.73 NR1I2 NR1H4 NR1H3 HNF4A
9
Bile secretion 36
11.71 NR1H4 LDLR HMGCR CYP7A1
10
PPAR signaling pathway 36
11.59 NR1H3 LPL CYP7A1 CYP27A1
11
Sterol Regulatory Element-Binding Proteins (SREBP) signalling 1
11.58 LPL LDLR HMGCR
12
Statin Pathway 1
Show member pathways
 11.39 LPL LPA LDLRAP1 LDLR HMGCR CYP7A1
13
A-beta Pathways: Uptake and Degradation 64
11.18 MSR1 LDLR APOE
14
Nuclear Receptors in Lipid Metabolism and Toxicity 1
10.98 NR1I2 NR1H4 NR1H3 CYP7A1 CYP27B1 ABCA1
15
Farnesoid X Receptor Pathway 1
10.86 NR1H4 CYP7A1
16
SREBF and miR33 in cholesterol and lipid homeostasis 1
10.84 NR1H3 LDLR HMGCR ABCA1
17
Drug Induction of Bile Acid Pathway 1
10.77 NR1I2 NR1H4 CYP7A1
18
RXR and RAR heterodimerization with other nuclear receptor 1
10.7 NR1H4 ABCA1
19
Vitamin D Metabolism 1
10.55 CYP27B1 CYP27A1
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 LDLRAP1 LDLR APOE APOB
2 costamere GO:0043034 9.43 VCL FLNC
3 clathrin-coated endocytic vesicle membrane GO:0030669 9.43 LDLR APOE APOB
4 endocytic vesicle lumen GO:0071682 9.4 APOE APOB
5 very-low-density lipoprotein particle GO:0034361 9.33 LPL APOE APOB
6 intermediate-density lipoprotein particle GO:0034363 9.32 APOE APOB
7 chylomicron GO:0042627 9.13 LPL APOE APOB
8 low-density lipoprotein particle GO:0034362 8.92 MSR1 LDLR APOE APOB

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

(show top 50) (show all 57)
# Name GO ID Score Top Affiliating Genes
1 transcription initiation from RNA polymerase II promoter GO:0006367 9.97 NR1I2 NR1H4 NR1H3 HNF4A
2 receptor-mediated endocytosis GO:0006898 9.97 MSR1 LDLRAP1 LDLR APOE APOB
3 lipid transport GO:0006869 9.93 LPA LDLR APOE APOB ABCA1
4 regulation of lipid metabolic process GO:0019216 9.91 HNF4A HMGCR CYP7A1 ABCA1
5 cholesterol metabolic process GO:0008203 9.91 LDLRAP1 LDLR HMGCR FDX1 CYP7A1 CYP27A1
6 steroid biosynthetic process GO:0006694 9.85 HMGCR FDX1 CYP27A1
7 retinoid metabolic process GO:0001523 9.85 LPL APOE APOB
8 steroid metabolic process GO:0008202 9.85 NR1I2 LDLRAP1 LDLR HMGCR FDX1 CYP7A1
9 lipid homeostasis GO:0055088 9.84 NR1H3 HNF4A APOE
10 intermembrane lipid transfer GO:0120009 9.83 APOE APOB ABCA1
11 cellular response to fatty acid GO:0071398 9.81 NR1H4 LPL LDLR
12 intracellular receptor signaling pathway GO:0030522 9.81 NR1I2 NR1H4 NR1H3 HNF4A
13 sterol metabolic process GO:0016125 9.8 FDX1 CYP7A1 CYP27A1
14 artery morphogenesis GO:0048844 9.8 LDLR APOE APOB
15 triglyceride homeostasis GO:0070328 9.8 NR1H4 NR1H3 LPL HNF4A HMGCR APOE
16 cholesterol efflux GO:0033344 9.79 APOE APOB ABCA1
17 low-density lipoprotein particle clearance GO:0034383 9.79 LDLRAP1 LDLR APOB
18 positive regulation of cholesterol efflux GO:0010875 9.77 NR1H3 APOE ABCA1
19 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.77 MSR1 LPL APOB
20 cholesterol transport GO:0030301 9.77 MSR1 LDLRAP1 LDLR APOB ABCA1
21 low-density lipoprotein particle remodeling GO:0034374 9.76 LPA APOE APOB
22 regulation of cholesterol metabolic process GO:0090181 9.75 NR1H4 LDLR APOE
23 bile acid signaling pathway GO:0038183 9.73 NR1H4 HMGCR CYP7A1
24 cellular response to cholesterol GO:0071397 9.72 CYP7A1 ABCA1
25 reverse cholesterol transport GO:0043691 9.72 APOE ABCA1
26 fatty acid homeostasis GO:0055089 9.72 NR1H4 APOE
27 phospholipid homeostasis GO:0055091 9.72 HNF4A ABCA1
28 cholesterol catabolic process GO:0006707 9.72 CYP7A1 CYP27A1 APOE
29 lipoprotein transport GO:0042953 9.71 MSR1 APOB
30 positive regulation of lipid storage GO:0010884 9.71 LPL APOB
31 positive regulation of triglyceride biosynthetic process GO:0010867 9.71 NR1H3 LDLR
32 amyloid-beta clearance GO:0097242 9.71 MSR1 LDLR
33 high-density lipoprotein particle assembly GO:0034380 9.71 APOE ABCA1
34 lipoprotein metabolic process GO:0042157 9.71 LDLR APOE APOB ABCA1
35 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.7 NR1H3 ABCA1
36 negative regulation of amyloid fibril formation GO:1905907 9.7 LDLR APOE
37 phospholipid efflux GO:0033700 9.7 APOE ABCA1
38 regulation of protein metabolic process GO:0051246 9.7 LDLR APOE
39 chylomicron remodeling GO:0034371 9.7 LPL APOE APOB
40 cholesterol homeostasis GO:0042632 9.7 NR1H4 NR1H3 LPL LDLRAP1 LDLR HNF4A
41 amyloid precursor protein metabolic process GO:0042982 9.69 LDLRAP1 APOE
42 chylomicron assembly GO:0034378 9.69 APOE APOB
43 high-density lipoprotein particle clearance GO:0034384 9.69 LDLR APOE
44 negative regulation of cholesterol storage GO:0010887 9.68 NR1H3 ABCA1
45 very-low-density lipoprotein particle remodeling GO:0034372 9.68 LPL APOE
46 regulation of Cdc42 protein signal transduction GO:0032489 9.67 APOE ABCA1
47 very-low-density lipoprotein particle clearance GO:0034447 9.67 APOE APOB
48 positive regulation of cholesterol storage GO:0010886 9.67 MSR1 LPL APOB
49 regulation of bile acid biosynthetic process GO:0070857 9.66 NR1H4 CYP7A1
50 calcitriol biosynthetic process from calciol GO:0036378 9.65 CYP27B1 CYP27A1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.73 LPL LPA APOE APOB
2 iron ion binding GO:0005506 9.71 FDX1 CYP7A1 CYP27B1 CYP27A1
3 monooxygenase activity GO:0004497 9.67 CYP7A1 CYP27B1 CYP27A1
4 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.65 CYP7A1 CYP27B1 CYP27A1
5 lipid transporter activity GO:0005319 9.54 APOE APOB ABCA1
6 heparan sulfate proteoglycan binding GO:0043395 9.52 LPL APOE
7 low-density lipoprotein particle binding GO:0030169 9.51 MSR1 LDLR
8 low-density lipoprotein particle receptor binding GO:0050750 9.5 LDLRAP1 APOE APOB
9 lipoprotein particle binding GO:0071813 9.46 LPL APOE
10 amyloid-beta binding GO:0001540 9.46 MSR1 LDLRAP1 LDLR APOE
11 intermembrane cholesterol transfer activity GO:0120020 9.43 APOE APOB ABCA1
12 apolipoprotein binding GO:0034185 9.13 LPL LPA ABCA1
13 nuclear receptor activity GO:0004879 8.92 NR1I2 NR1H4 NR1H3 HNF4A
Sources

Sources for Xanthomatosis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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