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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 56 12 54 43 15 71
Xanthomatosis, Susceptibility to 56
Xanthelasmatosis 12

Characteristics:

OMIM:

56
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 56 602247
MeSH 43 D014973
SNOMED-CT 67 63103006
MedGen 41 C1865704
SNOMED-CT via HPO 68 13644009 166830008 263681008
UMLS 71 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 xanthoma disseminatum and hyperlipoproteinemia, type iii, 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 Cytochrome P450 - arranged by substrate type. The drugs chenodeoxycholic acid and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and liver, 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
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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 33.0 APOE APOB
2 hyperlipoproteinemia, type iii 32.1 LPL LPA LDLR APOE APOB
3 familial lipoprotein lipase deficiency 32.0 LPL APOE APOB
4 sitosterolemia 31.8 LDLRAP1 HMGCR CYP7A1 CYP27A1 APOB ABCA1
5 cerebrotendinous xanthomatosis 31.3 VCL NR1I2 NR1H4 NR1H3 HNF4A HMGCR
6 lipid storage disease 31.1 NR1H4 CYP7A1 CYP27A1 APOB
7 hypercholesterolemia, familial, 1 31.1 NR1H4 LPL LPA LDLRAP1 LDLR HMGCR
8 familial hypercholesterolemia 30.5 LPL LPA LDLRAP1 LDLR HMGCR CYP7A1
9 hypertriglyceridemia, familial 30.3 LPL APOE APOB
10 hyperlipoproteinemia, type i 30.1 LPL APOE APOB
11 cholangitis, primary sclerosing 30.1 NR1I2 NR1H4 CYP7A1
12 hyperlipoproteinemia, type v 30.1 LPL HMGCR APOE APOB
13 generalized atherosclerosis 30.1 LPA APOE APOB
14 cholelithiasis 30.1 NR1H4 CYP7A1 APOE
15 coronary stenosis 29.8 LPL APOE APOB
16 primary biliary cirrhosis 29.7 NR1I2 NR1H4 HNF4A CYP7A1
17 hyperalphalipoproteinemia 1 29.6 LPL LDLR APOB
18 osteoporosis 29.5 LPA LDLR HMGCR CYP27B1 APOE APOB
19 hypolipoproteinemia 29.5 LPL LPA APOE APOB ABCA1
20 hyperlipidemia, familial combined, 3 29.4 LPL LDLR APOE APOB
21 cholestasis 29.3 NR1I2 NR1H4 HNF4A CYP7B1 CYP7A1 CYP27A1
22 smith-lemli-opitz syndrome 29.2 LDLR HMGCR CYP27A1 APOE ABCA1
23 arteriosclerosis 29.2 VCL LPL LPA LDLR HMGCR APOE
24 hypothyroidism 29.1 LPL LPA LDLR CYP7A1 APOE APOB
25 coronary heart disease 1 29.1 LPL LPA LDLR HMGCR APOE APOB
26 heart disease 28.9 LPL LPA LDLR HMGCR APOE APOB
27 homozygous familial hypercholesterolemia 28.8 LDLRAP1 LDLR HMGCR APOE APOB ABCA1
28 atherosclerosis susceptibility 28.8 MSR1 LPL LPA LDLR HMGCR APOE
29 myocardial infarction 28.7 LPL LPA LDLR HMGCR APOE APOB
30 diabetes mellitus 28.6 LPL LPA LDLR HNF4A HMGCR CYP27B1
31 vascular disease 28.6 NR1H4 LPL LPA LDLR HMGCR APOE
32 familial hyperlipidemia 28.5 NR1H4 LPL LPA LDLR HMGCR APOE
33 lipid metabolism disorder 28.0 NR1H4 LPL LPA LDLR HNF4A HMGCR
34 inherited metabolic disorder 27.7 NR1H4 LPL LPA LDLR HMGCR CRYAA
35 diabetes mellitus, noninsulin-dependent 26.9 NR1H4 LPL LPA LDLR HNF4A HMGCR
36 lysosomal acid lipase deficiency 11.9
37 leukodystrophy 11.5
38 hypercholesterolemia, familial, 4 11.2
39 bile acid synthesis defect, congenital, 1 11.2
40 cataract 10.8
41 ataxia and polyneuropathy, adult-onset 10.6
42 neuropathy 10.5
43 peripheral nervous system disease 10.5
44 autosomal recessive disease 10.5
45 diarrhea 10.5
46 alzheimer disease 10 10.4 FDX1 APOE
47 liver cirrhosis 10.4
48 functional diarrhea 10.4 NR1H4 CYP7A1
49 silent myocardial infarction 10.4 LPA APOB
50 polyneuropathy 10.4

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:

56
Skin:
giant xanthomas

Misc:
manifest in familial hypercholesterolemia

Clinical features from OMIM:

602247

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 10.09 NR1I2
2 Decreased viability GR00221-A-2 10.09 NR1H4 NR1I2
3 Decreased viability GR00221-A-4 10.09 NR1H4
4 Decreased viability GR00249-S 10.09 CRYAA CYP7B1 MSR1 NR1H4 VCL
5 Decreased viability GR00301-A 10.09 NR1I2
6 Decreased viability GR00386-A-1 10.09 APOB APOE HNF4A LPL
7 Decreased viability GR00402-S-2 10.09 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 9.17 CYP27B1 HMGCR HNF4A LDLR NR1H3 NR1H4
11 Increased the percentage of infected cells GR00402-S-1 8.65 FDX1

MGI Mouse Phenotypes related to Xanthomatosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.21 ABCA1 APOB APOE CYP27A1 CYP7A1 HNF4A
2 homeostasis/metabolism MP:0005376 10.16 ABCA1 APOB APOE CYP27A1 CYP27B1 CYP7A1
3 cellular MP:0005384 10.14 ABCA1 APOB APOE CYP27B1 HNF4A LDLR
4 growth/size/body region MP:0005378 10.1 ABCA1 APOB APOE CYP27A1 CYP27B1 CYP7A1
5 adipose tissue MP:0005375 10 APOE CYP27A1 CYP27B1 CYP7B1 LDLR LPL
6 liver/biliary system MP:0005370 9.93 ABCA1 APOB APOE CYP27A1 CYP7A1 HMGCR
7 digestive/alimentary MP:0005381 9.91 ABCA1 APOE CYP27A1 CYP7A1 LDLR NR1H4
8 mortality/aging MP:0010768 9.83 ABCA1 APOB APOE CYP7A1 CYP7B1 FDX1
9 muscle MP:0005369 9.17 ABCA1 APOB APOE LDLR LPL NR1H3
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 94-09-7, 1994-09-7 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 Lipid Regulating Agents Phase 2
10 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
11 Anticholesteremic Agents Phase 2
12 Antimetabolites Phase 2
13 Hypolipidemic Agents Phase 2
14 L 647318 Phase 2

Interventional clinical trials:

(show all 11)
# 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 Evaluation of Carotid IMT and Atherogenic Risk Factors in Patients With Cerebrotendinous Xanthomatosis Unknown status NCT01613898
4 Effects of LDL Apheresis System on the Expression of Genes Involved in Lipoprotein Metabolism and Inflammation in Homozygotes for Familial Hypercholesterolemia Completed NCT02462655
5 Relationships Between Lipoprotein(a) Levels and Aortic Valve Calcification in Patients With Heterozygous Familial Hypercholesterolemia Completed NCT02976818
6 An Observational, Multicenter Study of the Prevalence of Cerebrotendinous Xanthomatosis (CTX) in Patient Populations Diagnosed With Early-Onset Idiopathic Bilateral Cataracts Recruiting NCT02638220
7 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
8 International Rare Histiocytic Disorders Registry (IRHDR) Recruiting NCT02285582
9 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
10 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 Not yet recruiting NCT04113083
11 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
Skin, Bone, Liver, Brain, Testes, Heart, Lung
Sources

Publications for Xanthomatosis

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Articles related to Xanthomatosis:

(show top 50) (show all 1587)
# Title Authors PMID Year
1
A xanthomatosis-susceptibility gene may exist in a Syrian family with familial hypercholesterolemia. 61 56
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. 54 61
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. 61 54
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]. 54 61
9435357 1997
11
Severe xanthomatosis associated with familial apolipoprotein E deficiency. 54 61
9038735 1996
12
Characterization of a novel variant of apolipoprotein E, E2 Fukuoka (Arg-224 --> Gln) in a hyperlipidemic patient with xanthomatosis. 54 61
8664327 1996
13
Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots. 61
32523054 2020
14
High occurrence rate of xanthomatosis and nephrocalcinosis in aquarium-housed Atlantic wolffish Anarhichas lupus and spotted wolffish A. minor. 61
32495748 2020
15
A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis. 61
32229667 2020
16
Multifocal, hypoechogenic nerve thickening in Cerebrotendinous Xanthomatosis. 61
32531740 2020
17
A Neuropsychological Profile for Cerebrotendinous Xanthomatosis: A Single-Case Study. 61
31896378 2020
18
The safety and effectiveness of chenodeoxycholic acid treatment in patients with cerebrotendinous xanthomatosis: two retrospective cohort studies. 61
31863326 2020
19
Multi-imaging study in a patient with cerebrotendinous xanthomatosis: radiology, clinic and pathology correlation of a rare condition. 61
32201602 2020
20
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
21
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
22
Misdiagnosis of CTX due to propofol: The interference of total intravenous propofol anaesthesia with bile acid profiling. 61
31990370 2020
23
Parkinsonism with Normal Dopaminergic Presynaptic Terminals in Cerebrotendinous Xanthomatosis. 61
31970228 2020
24
A novel mutation in the CYP27A1 gene in a family with cerebrotendinous xanthomatosis. 61
31914338 2020
25
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies. 61
31829048 2020
26
Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis. 61
31796091 2019
27
Prevalence of oropharyngeal dysphagia in hereditary spastic paraplegias. 61
31939580 2019
28
Age-related changes of cholestanol and lathosterol plasma concentrations: an explorative study. 61
31888647 2019
29
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
30
Clinical and molecular genetic features of cerebrotendinous xanthomatosis in Taiwan: Report of a novel CYP27A1 mutation and literature review. 61
31706903 2019
31
Diffuse normolipemic plane xanthoma with underlying photosensitive dermatoses. 61
31678921 2019
32
Diffuse plane normolipaemic xanthomatosis as a manifestation of monoclonal gammopathy. 61
31407310 2019
33
A Preventable Ataxia: Cerebrotendinous Xanthomatosis. 61
31736580 2019
34
Prevalence of Cerebrotendinous Xanthomatosis Among Patients Diagnosed With Acquired Juvenile-Onset Idiopathic Bilateral Cataracts. 61
31536098 2019
35
Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey. 61
29058268 2019
36
Diffuse Gastric Xanthomatosis. 61
31401362 2019
37
Cholic acid as a treatment for cerebrotendinous xanthomatosis in adults. 61
31115677 2019
38
Cerebrotendinous xanthomatosis - A case report. 61
31741606 2019
39
[Cerebrotendinous xanthomatosis. Report of one case]. 61
31859899 2019
40
Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia. 61
27460185 2019
41
Cerebrotendinous xanthomatosis: The diagnostic challenge. 61
29980286 2019
42
Diagnostic challenge: A case of late-onset spinal form cerebrotendinous xanthomatosis. 61
30804055 2019
43
Segmental Xanthomatosis of the Ileum. 61
29366929 2019
44
Additional pathways of sterol metabolism: Evidence from analysis of Cyp27a1-/- mouse brain and plasma. 61
30471425 2019
45
Drug Discovery and Repurposing Inhibits a Major Gut Pathogen-Derived Oncogenic Toxin. 61
31709196 2019
46
Chenodeoxycholic Acid: An Update on Its Therapeutic Applications. 61
31267167 2019
47
Evaluation of the effect of chenodeoxycholic acid treatment on skeletal system findings in patients with cerebrotendinous xanthomatosis. 61
31384146 2019
48
Optic Neuropathy with Features Suggestive of Optic Neuritis in Cerebrotendinous Xanthomatosis. 61
30891321 2019
49
Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start. 61
30530799 2019
50
Cerebrotendinous xanthomatosis: The rare "treatable" disease you never consider. 61
30530794 2019
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 21)
# Super pathways Score Top Affiliating Genes
1
Metabolism 65
Show member pathways
 13.85 NR1H4 NR1H3 LPL LPA LDLRAP1 LDLR
2
Cytochrome P450 - arranged by substrate type 65
Show member pathways
 13.07 NR1H4 FDX1 CYP7B1 CYP7A1 CYP27B1 CYP27A1
3
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) 65
Show member pathways
 12.75 NR1H4 LPL HMGCR CYP7A1 ABCA1
4
Metabolism of water-soluble vitamins and cofactors 65
Show member pathways
 12.53 LPL LDLR CYP27B1 APOE APOB
5
Lipoprotein metabolism 65
Show member pathways
 12.29 NR1H3 LPL LPA LDLRAP1 LDLR APOE
6
Folate Metabolism 1
Show member pathways
 12.17 LDLR APOE APOB ABCA1
7
Metabolism of fat-soluble vitamins 65
Show member pathways
 12.16 LPL LDLR CYP27B1 APOE APOB
8
Synthesis of bile acids and bile salts 65
Show member pathways
 12.05 NR1H4 CYP7B1 CYP7A1 CYP27A1
9
Binding and Uptake of Ligands by Scavenger Receptors 65
Show member pathways
 11.78 MSR1 APOE APOB
10
Nuclear Receptor transcription pathway 65
Show member pathways
 11.73 NR1I2 NR1H4 NR1H3 HNF4A
11
Bile secretion 36
11.71 NR1H4 LDLR HMGCR CYP7A1
12
Sterol Regulatory Element-Binding Proteins (SREBP) signalling 1
11.59 LPL LDLR HMGCR
13
PPAR signaling pathway 36
11.59 NR1H3 LPL CYP7A1 CYP27A1
14
Statin Pathway 1
Show member pathways
 11.39 LPL LPA LDLRAP1 LDLR HMGCR CYP7A1
15
A-beta Uptake and Degradation 64
11.18 MSR1 LDLR APOE
16
Nuclear Receptors in Lipid Metabolism and Toxicity 1
10.98 NR1I2 NR1H4 NR1H3 CYP7A1 CYP27B1 ABCA1
17
Farnesoid X Receptor Pathway 1
10.88 NR1H4 CYP7A1
18
SREBF and miR33 in cholesterol and lipid homeostasis 1
10.84 NR1H3 LDLR HMGCR ABCA1
19
Drug Induction of Bile Acid Pathway 1
10.77 NR1I2 NR1H4 CYP7A1
20
RXR and RAR heterodimerization with other nuclear receptor 1
10.71 NR1H4 ABCA1
21
Vitamin D Metabolism 1
10.56 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 9.73 LDLRAP1 LDLR APOE APOB
2 host cell nucleus GO:0042025 9.62 NR1I2 NR1H4 NR1H3 HNF4A
3 RNA polymerase II transcription factor complex GO:0090575 9.58 NR1I2 NR1H4 NR1H3
4 endocytic vesicle lumen GO:0071682 9.46 APOE APOB
5 clathrin-coated endocytic vesicle membrane GO:0030669 9.43 LDLR APOE APOB
6 intermediate-density lipoprotein particle GO:0034363 9.37 APOE APOB
7 very-low-density lipoprotein particle GO:0034361 9.33 LPL APOE APOB
8 chylomicron GO:0042627 9.13 LPL APOE APOB
9 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 60)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 10.17 HMGCR FDX1 CYP7B1 CYP7A1 CYP27B1 CYP27A1
2 cellular response to lipopolysaccharide GO:0071222 9.99 NR1I2 NR1H4 NR1H3 ABCA1
3 transcription initiation from RNA polymerase II promoter GO:0006367 9.98 NR1I2 NR1H4 NR1H3 HNF4A
4 receptor-mediated endocytosis GO:0006898 9.97 MSR1 LDLRAP1 LDLR APOE APOB
5 cholesterol metabolic process GO:0008203 9.96 LDLRAP1 LDLR HMGCR FDX1 CYP7B1 CYP7A1
6 lipid transport GO:0006869 9.95 LPA LDLR APOE APOB ABCA1
7 regulation of lipid metabolic process GO:0019216 9.92 HNF4A HMGCR CYP7A1 ABCA1
8 steroid metabolic process GO:0008202 9.9 NR1I2 LDLRAP1 LDLR HMGCR FDX1 CYP7B1
9 steroid biosynthetic process GO:0006694 9.89 HMGCR FDX1 CYP7B1 CYP27A1
10 retinoid metabolic process GO:0001523 9.87 LPL APOE APOB
11 steroid hormone mediated signaling pathway GO:0043401 9.86 NR1I2 NR1H4 NR1H3 HNF4A
12 intermembrane lipid transfer GO:0120009 9.85 APOE APOB ABCA1
13 intracellular receptor signaling pathway GO:0030522 9.84 NR1I2 NR1H4 NR1H3
14 response to lipid GO:0033993 9.83 NR1I2 NR1H4 NR1H3
15 bile acid biosynthetic process GO:0006699 9.82 CYP7B1 CYP7A1 CYP27A1
16 cellular response to fatty acid GO:0071398 9.82 NR1H4 LPL LDLR
17 artery morphogenesis GO:0048844 9.81 LDLR APOE APOB
18 low-density lipoprotein particle clearance GO:0034383 9.8 LDLRAP1 LDLR APOB
19 lipid homeostasis GO:0055088 9.8 NR1I2 NR1H4 NR1H3 HNF4A APOE
20 cholesterol efflux GO:0033344 9.79 APOE APOB ABCA1
21 positive regulation of cholesterol efflux GO:0010875 9.79 NR1H3 APOE ABCA1
22 positive regulation of macrophage derived foam cell differentiation GO:0010744 9.78 MSR1 LPL APOB
23 regulation of cholesterol metabolic process GO:0090181 9.77 NR1H4 LDLR APOE
24 triglyceride homeostasis GO:0070328 9.77 NR1H4 NR1H3 LPL HNF4A APOE
25 low-density lipoprotein particle remodeling GO:0034374 9.76 LPA APOE APOB
26 sterol metabolic process GO:0016125 9.76 FDX1 CYP7B1 CYP7A1 CYP27A1
27 cholesterol catabolic process GO:0006707 9.74 CYP7A1 CYP27A1 APOE
28 reverse cholesterol transport GO:0043691 9.73 APOE ABCA1
29 fatty acid homeostasis GO:0055089 9.73 NR1H4 APOE
30 lipoprotein metabolic process GO:0042157 9.73 LDLR APOE APOB ABCA1
31 cholesterol homeostasis GO:0042632 9.73 NR1I2 NR1H4 NR1H3 LPL LDLRAP1 LDLR
32 lipoprotein transport GO:0042953 9.72 MSR1 APOB
33 positive regulation of triglyceride biosynthetic process GO:0010867 9.72 NR1H3 LDLR
34 amyloid-beta clearance GO:0097242 9.72 MSR1 LDLR
35 high-density lipoprotein particle assembly GO:0034380 9.72 APOE ABCA1
36 positive regulation of lipid storage GO:0010884 9.72 LPL APOB
37 cholesterol transport GO:0030301 9.72 MSR1 LDLRAP1 LDLR APOB ABCA1
38 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.71 NR1H3 ABCA1
39 phospholipid homeostasis GO:0055091 9.71 HNF4A ABCA1
40 phospholipid efflux GO:0033700 9.71 APOE ABCA1
41 amyloid precursor protein metabolic process GO:0042982 9.71 LDLRAP1 APOE
42 high-density lipoprotein particle clearance GO:0034384 9.71 LDLR APOE
43 chylomicron remnant clearance GO:0034382 9.71 LDLR APOE APOB
44 regulation of protein metabolic process GO:0051246 9.7 LDLR APOE
45 chylomicron assembly GO:0034378 9.7 APOE APOB
46 negative regulation of cholesterol storage GO:0010887 9.7 NR1H3 ABCA1
47 very-low-density lipoprotein particle remodeling GO:0034372 9.7 LPL APOE
48 chylomicron remodeling GO:0034371 9.7 LPL APOE APOB
49 regulation of Cdc42 protein signal transduction GO:0032489 9.69 APOE ABCA1
50 positive regulation of cholesterol storage GO:0010886 9.69 MSR1 LPL APOB

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.31 NR1I2 NR1H4 NR1H3 LPL HNF4A FDX1
2 oxidoreductase activity GO:0016491 9.98 HMGCR CYP7B1 CYP7A1 CYP27B1 CYP27A1
3 transcription regulatory region sequence-specific DNA binding GO:0000976 9.9 NR1I2 NR1H4 NR1H3 HNF4A
4 heparin binding GO:0008201 9.84 LPL LPA APOE APOB
5 heme binding GO:0020037 9.81 CYP7B1 CYP7A1 CYP27B1 CYP27A1
6 monooxygenase activity GO:0004497 9.76 CYP7B1 CYP7A1 CYP27B1 CYP27A1
7 nuclear receptor transcription coactivator activity GO:0030374 9.73 NR1I2 NR1H4 NR1H3
8 nuclear receptor activity GO:0004879 9.7 NR1I2 NR1H4 NR1H3
9 steroid hydroxylase activity GO:0008395 9.67 CYP7B1 CYP7A1 CYP27A1
10 amyloid-beta binding GO:0001540 9.67 MSR1 LDLRAP1 LDLR APOE
11 lipid transporter activity GO:0005319 9.65 APOE APOB ABCA1
12 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.62 CYP7B1 CYP7A1 CYP27B1 CYP27A1
13 low-density lipoprotein particle receptor binding GO:0050750 9.61 LDLRAP1 APOE APOB
14 low-density lipoprotein particle binding GO:0030169 9.59 MSR1 LDLR
15 heparan sulfate proteoglycan binding GO:0043395 9.58 LPL APOE
16 intermembrane cholesterol transfer activity GO:0120020 9.58 APOE APOB ABCA1
17 lipoprotein particle binding GO:0071813 9.55 LPL APOE
18 transcription factor activity, direct ligand regulated sequence-specific DNA binding GO:0098531 9.43 NR1I2 NR1H4 NR1H3
19 apolipoprotein binding GO:0034185 9.33 LPL LPA ABCA1
20 steroid hormone receptor activity GO:0003707 9.26 NR1I2 NR1H4 NR1H3 HNF4A
21 iron ion binding GO:0005506 9.02 FDX1 CYP7B1 CYP7A1 CYP27B1 CYP27A1
Sources

Sources for Xanthomatosis

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
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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