MCID: XNT003
MIFTS: 47

Xanthomatosis malady

Summaries for Xanthomatosis

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9Disease Ontology, 66Wikipedia, 34MalaCards
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Disease Ontology:9 A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts.

MalaCards: Xanthomatosis, also known as xanthelasmatosis, is related to cerebrotendinous xanthomatosis and sitosterolemia. An important gene associated with Xanthomatosis is CYP27A1 (cytochrome P450, family 27, subfamily A, polypeptide 1), and among its related pathways are Synthesis of bile acids and bile salts and PPAR signaling pathway. The compounds cholestanol and guggulsterone have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and bone, and related mouse phenotype liver/biliary system.

Wikipedia:66 A xanthoma (pl. xanthomas or xanthomata) (condition: xanthomatosis), from Greek xanthos, ??????,... more...

Aliases & Classifications for Xanthomatosis

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9Disease Ontology, 11DISEASES, 46Novoseek, 63UMLS, 36MeSH, 59SNOMED-CT
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Aliases & Descriptions:

xanthomatosis 9 11 46 63
xanthelasmatosis 9


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Disease Ontology9 DOID:3345
SNOMED-CT59 63103006
MeSH36 D014973

Related Diseases for Xanthomatosis

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18GeneCards, 19GeneDecks
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Diseases related to Xanthomatosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 100)
idRelated DiseaseScoreTop Affiliating Genes
1cerebrotendinous xanthomatosis31.9CYP27A1
2sitosterolemia30.9CYP7A1, HMGCR
3atherosclerosis30.3CYP7A1, HMGCR, NR1H4, CYP27A1
4familial hypercholesterolemia30.3CYP7A1, HMGCR
5osteoporosis30.2HMGCR, CYP3A4
6hypercholesterolemia30.1CYP27A1, HMGCR, NR1H4, CYP3A4, CYP7A1
7primary biliary cirrhosis30.0CYP3A4, NR1H4
8coronary artery disease30.0CYP3A4, HMGCR
9cholestasis29.9NR1H4, CYP3A4, CYP7A1, CYP27A1
10rickets29.8CYP27A1, CYP3A4
11diabetes mellitus29.7NR1H4, CYP3A4, HMGCR
12myopathy29.7HMGCR, CYP3A4
13cataract10.4
14myeloma10.3
15tendinitis10.2
16wolman disease10.2
17hepatitis10.2
18fox fordyce disease10.2
19mycosis fungoides10.2
20diarrhea10.2
21neuropathy10.2
22ataxia10.2
23cerebritis10.1
24artery disease10.1
25dystonia10.1
26lipid storage disease10.1
27multiple myeloma10.1
28peripheral neuropathy10.1
29polyneuropathy10.1
30xanthoma disseminatum10.1
31bone fracture10.0
32relapsing polychondritis10.0
33oromandibular dystonia10.0
34atopic dermatitis10.0
35arthritis10.0
36cutaneous t cell lymphoma10.0
37dementia10.0
38dermatitis10.0
39lymphedema10.0
40hyperlipidemia type 310.0
41metabolic syndrome x10.0NR1H4, CYP7A1
42galactosemia10.0NR1H4, CYP3A4
43vascular disease10.0HMGCR, NR1H4
44fatty liver disease10.0CYP3A4, HMGCR
45familial hyperlipidemia10.0HMGCR, NR1H4, CYP27A1
46hypertriglyceridemia10.0CYP7A1, HMGCR, NR1H4
47chronic kidney failure10.0HMGCR, CYP3A4
48angina pectoris9.9
49parametritis9.9
50euthyroid sick syndrome9.9

Graphical network of the top 20 diseases related to Xanthomatosis:



Diseases related to xanthomatosis

Symptoms for Xanthomatosis

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Drugs & Therapeutics for Xanthomatosis

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Xanthomatosis

Drug clinical trials:

Search ClinicalTrials for Xanthomatosis

Search NIH Clinical Center for Xanthomatosis

Search CenterWatch for Xanthomatosis

Genetic Tests for Xanthomatosis

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Anatomical Context for Xanthomatosis

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34MalaCards
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MalaCards organs/tissues related to Xanthomatosis:

34
Skin, Brain, Bone, Liver, T cells, Testes, Heart, Spinal cord, Small intestine, Eye, Lymph node, Smooth muscle, Colon, Monocytes, Adrenal gland

Animal Models for Xanthomatosis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Xanthomatosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.0NR1H4, CYP7A1, CYP27A1

Publications for Xanthomatosis

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53PubMed
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Articles related to Xanthomatosis:

(show top 50)    (show all 518)
idTitleAuthorsYear
1
Xanthomatosis coli. (22813443)
2013
2
Cerebrotendinous xanthomatosis--the spectrum of imaging findings. (23705046)
2013
3
Severe xanthomatosis with prominent tuberous xanthomas on the cheeks and the nasal dorsum in a patient with type IIa hyperlipoproteinemia. (24047578)
2013
4
Fluoxetine-responsive depression in a Chinese cerebrotendinous xanthomatosis. (22133984)
2012
5
Myoclonus and dystonia in cerebrotendinous xanthomatosis. (23115103)
2012
6
A case of cerebrotendinous xanthomatosis presenting with epilepsy as an initial symptom with a novel V413D mutation in the CYP27A1 gene. (22336472)
2012
7
Botulinum toxin-responsive oromandibular dystonia in cerebrotendinous xanthomatosis. (21531161)
2011
8
Cerebrotendinous xanthomatosis: a rare cause of spinocerebellar syndrome. (22212991)
2011
9
Diffuse xanthomatosis as a presenting feature of multiple myeloma. (20015339)
2010
10
Best cases from the AFIP: atypical imaging features of bilateral Achilles tendon xanthomatosis. (19001659)
2008
11
Cerebrotendinous xanthomatosis: report of two Brazilian brothers. (15608974)
2004
12
Cholesterol, corneal lipidosis, and xanthomatosis in amphibians. (12616838)
2003
13
Cerebrotendinous xanthomatosis: neuroimaging findings in two siblings from an Indian family. (14652454)
2003
14
Diffuse plane normolipaemic xanthomatosis in a patient with chronic lymphatic leukaemia and monoclonal gammopathy. (12077546)
2002
15
Cerebrotendinous xanthomatosis with psychiatric disorders: report of three siblings and literature review. (12141707)
2002
16
A case of familial type IIa hypercholesterolemia with the clinical features similar to cerebrotendinous xanthomatosis]. (10885331)
2000
17
Genetic analysis enables definite and rapid diagnosis of cerebrotendinous xanthomatosis. (9748042)
1998
18
Partial deletion of the gene encoding sterol 27-hydroxylase in a subject with cerebrotendinous xanthomatosis. (8728327)
1996
19
A novel mutation in the cytochrome P450(27) (CYP27) gene caused cerebrotendinous xanthomatosis in a Japanese family. (8728324)
1996
20
Severe xanthomatosis associated with familial apolipoprotein E deficiency. (9038735)
1996
21
Determination of the glucurono-conjugated position in bile alcohol glucuronides present in a patient with cerebrotendinous xanthomatosis. (8539780)
1995
22
Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family. (7860076)
1995
23
Historical aspects of cerebrotendinous xanthomatosis (CTX). (11619019)
1995
24
Normolipemic xanthomatosis. (7479470)
1995
25
Ocular and systemic manifestations of cerebrotendinous xanthomatosis. (7485361)
1995
26
Determination of the glucurono-conjugated position in bile alcohol glucuronides excreted in urine of a patient with cerebrotendinous xanthomatosis by a nuclear magnetic resonance study. (8089079)
1994
27
Biochemical studies of inherited diseases related to abnormal cholesterol metabolism. I. High-performance liquid chromatographic analysis of bile alcohol glucuronides in cerebrotendinous xanthomatosis. (7920441)
1994
28
Cerebrotendinous Xanthomatosis (20301583)
1993
29
Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis. (8231848)
1993
30
Treatment of cerebrotendinous xanthomatosis with low-density lipoprotein (LDL)-apheresis. (8445406)
1993
31
Plane xanthomatosis with chronic lymphatic leukaemia. (8348721)
1993
32
Radioimmunoassay of 5 beta-cholestane-3 alpha,7 alpha,12 alpha,25-tetrol 3-glucuronide in serum of patients with cerebrotendinous xanthomatosis. (1585391)
1992
33
Evoked potentials in cerebrotendinous xanthomatosis and effect induced by chenodeoxycholic acid. (1316120)
1992
34
Cerebrotendinous xanthomatosis: clinical and MRI study (a case report). (2303834)
1990
35
Decreased cholesterol biosynthesis in sitosterolemia with xanthomatosis: diminished mononuclear leukocyte 3-hydroxy-3-methylglutaryl coenzyme A reductase activity and enzyme protein associated with increased low-density lipoprotein receptor function. (2325562)
1990
36
Cerebrotendinous xanthomatosis. (2493565)
1989
37
Changes in lipid and lipoprotein levels and Achilles tendon diameters and indices in familial hypercholesterolaemic patients with tendinous xanthomatosis treated by diet and bezafibrate for 2 years. (3219880)
1988
38
Low-density lipoprotein metabolism in cerebrotendinous xanthomatosis. (3821507)
1987
39
Accumulation of 7 alpha-hydroxy-4-cholesten-3-one and cholesta-4,6-dien-3-one in patients with cerebrotendinous xanthomatosis: effect of treatment with chenodeoxycholic acid. (3557306)
1987
40
Normocholesterolemic xanthomatosis. (3096220)
1986
41
Peripheral neuropathy in cerebrotendinous xanthomatosis. (2994606)
1985
42
Tendinous xanthomatosis--a case report. (6413400)
1983
43
Polymorphic type of xanthomatosis in association with IgA myeloma. (6761377)
1982
44
Cerebrotendinous xanthomatosis: A cause of cataracts and tendon xanthoma. (6805326)
1982
45
Normolipidemic planar xanthomatosis associated with benign monoclonal gammopathy. (6455584)
1981
46
A unique patient with coexisting cerebrotendinous xanthomatosis and beta-sitosterolemia. (7258222)
1981
47
Peripheral neuropathy in cerebrotendinous xanthomatosis. (221858)
1979
48
Identifications of 5 beta-cholestane-3 alpha, 7 alpha, 12 alpha, 23 beta-tetrol, 5 beta-cholestane-3 alpha, 7 alpha, 12 alpha, 24 alpha-tetrol, and 5 beta-cholestane-3 alpha, 7 alpha, 12 alpha, 24 beta-tetrol in cerebrotendinous xanthomatosis. (663972)
1978
49
Chenodeoxycholic acid inhibits increased cholesterol and cholestanol synthesis in patients with cerebrotendinous xanthomatosis. (1212241)
1975
50
Cholestanol deposition in cerebrotendinous xanthomatosis. A possible mechanism. (5134895)
1971

Variations for Xanthomatosis

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Expression for genes affiliated with Xanthomatosis

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Xanthomatosis

Search GEO for disease gene expression data for Xanthomatosis.

Pathways for genes affiliated with Xanthomatosis

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51PathCards, 56Reactome, 31KEGG, 39NCBI BioSystems Database, 52PharmGKB, 61Thomson Reuters
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Pathways related to Xanthomatosis according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5CYP7A1, CYP27A1
2
Show member pathways
fatty acid beta-oxidation VI (peroxisome)39
9.5CYP7A1, CYP27A1
3
Show member pathways
9.3HMGCR, CYP7A1
4
Show member pathways
9.3HMGCR, CYP7A1
5
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism39
9.1CYP3A4, CYP7A1
6
Show member pathways
9.0CYP3A4, HMGCR
7
Show member pathways
8.7CYP3A4, CYP7A1, CYP27A1
8
Show member pathways
8.7CYP3A4, CYP7A1, CYP27A1
98.6NR1H4, CYP3A4, CYP7A1
108.6CYP7A1, CYP3A4, NR1H4
11
Show member pathways
8.1CYP27A1, CYP7A1, CYP3A4, HMGCR
128.0HMGCR, NR1H4, CYP3A4, CYP7A1

Compounds for genes affiliated with Xanthomatosis

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46Novoseek, 30IUPHAR, 62Tocris Bioscience, 25HMDB, 12DrugBank, 52PharmGKB
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Compounds related to Xanthomatosis according to GeneCards/GeneDecks:

(show top 50)    (show all 82)
idCompoundScoreTop Affiliating Genes
1cholestanol469.9CYP27A1, CYP7A1
2guggulsterone46 30 6211.8CYP7A1, NR1H4
3apomine469.8NR1H4, HMGCR
47-dehydrocholesterol46 2510.7HMGCR, CYP27A1
5sitosterol469.7CYP7A1, HMGCR
6farnesol46 30 25 1212.7HMGCR, NR1H4
77beta-hydroxycholesterol46 3010.7HMGCR, CYP7A1
87-ketocholesterol46 2510.7HMGCR, CYP27A1
9cholestyramine469.7HMGCR, CYP7A1
10lathosterol46 2510.6HMGCR, CYP7A1
11Ergocalciferol25 1210.6CYP27A1, CYP3A4
12lithocholic acid46 30 2511.6NR1H4, CYP7A1
13pegvisomant46 1210.5CYP3A4, CYP27A1
14naringin30 4610.4HMGCR, CYP3A4
15ranolazine52 46 1211.4CYP3A4, HMGCR
16cholic acid46 30 25 1212.4NR1H4, CYP7A1, CYP27A1
1725-hydroxycholesterol46 30 2511.3CYP7A1, HMGCR
187alpha-hydroxy-4-cholesten-3-one469.3HMGCR, CYP7A1, CYP27A1
1924s-hydroxy-cholesterol469.3CYP27A1, CYP7A1, HMGCR
2027-hydroxycholesterol46 3010.3HMGCR, CYP7A1, CYP27A1
21nefazodone46 52 1211.3HMGCR, CYP3A4
22itraconazole46 1210.3CYP3A4, HMGCR
23clofibrate46 30 1211.3HMGCR, CYP3A4
24bile acid469.3HMGCR, NR1H4, CYP7A1
25clarithromycin46 1210.3HMGCR, CYP3A4
26taurocholate469.2HMGCR, NR1H4, CYP7A1
27ursodeoxycholic acid46 25 1211.2HMGCR, NR1H4, CYP7A1
28ticlopidine46 1210.2HMGCR, CYP3A4
29prostacyclin469.2CYP27A1, CYP7A1, HMGCR
30mevalonate469.2HMGCR, NR1H4, CYP7A1
31mibefradil46 30 1211.1HMGCR, CYP3A4
32nelfinavir46 52 1211.1HMGCR, CYP3A4
33ezetimibe46 1210.0HMGCR, CYP3A4
34heme30 25 1211.0CYP3A4, CYP7A1, CYP27A1
35calcitriol46 62 25 1212.0CYP27A1, CYP3A4, NR1H4
36simvastatin46 52 62 30 25 1213.9HMGCR, CYP3A4, CYP27A1
37bezafibrate46 30 1210.9CYP7A1, CYP3A4, HMGCR
38diltiazem46 30 52 1211.9HMGCR, CYP3A4
39pravastatin46 52 30 25 1212.9HMGCR, CYP3A4, CYP7A1
40atorvastatin46 52 30 25 1212.9CYP7A1, CYP3A4, HMGCR
41sterol468.8CYP27A1, CYP7A1, NR1H4, HMGCR
42cholesterol46 30 25 1211.7HMGCR, NR1H4, CYP7A1, CYP27A1
43amiodarone46 52 30 1211.7HMGCR, CYP3A4
44steroid468.5NR1H4, CYP3A4, CYP7A1, CYP27A1
45lipid468.5CYP27A1, CYP7A1, NR1H4, HMGCR
46NADP258.5CYP27A1, CYP7A1, CYP3A4, HMGCR
47nadph46 259.5HMGCR, CYP3A4, CYP7A1, CYP27A1
48retinoic acid46 259.5CYP27A1, CYP7A1, CYP3A4, NR1H4
49chenodeoxycholic acid46 30 25 1211.0HMGCR, NR1H4, CYP3A4, CYP7A1, CYP27A1
50dexamethasone46 52 30 1211.0HMGCR, NR1H4, CYP3A4, CYP7A1, CYP27A1

GO Terms for genes affiliated with Xanthomatosis

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17Gene Ontology
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Cellular components related to Xanthomatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:0057898.5HMGCR, CYP3A4, CYP7A1

Biological processes related to Xanthomatosis according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1regulation of bile acid biosynthetic processGO:0708579.5NR1H4, CYP7A1
2sterol metabolic processGO:0161259.5CYP27A1, CYP7A1
3bile acid biosynthetic processGO:0066999.4CYP7A1, CYP27A1
4cellular lipid metabolic processGO:0442559.3HMGCR, CYP7A1
5bile acid metabolic processGO:0082069.1NR1H4, CYP7A1, CYP27A1
6xenobiotic metabolic processGO:0068058.7CYP3A4, CYP7A1, CYP27A1
7small molecule metabolic processGO:0442817.8HMGCR, CYP3A4, CYP7A1, CYP27A1

Molecular functions related to Xanthomatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1vitamin D3 25-hydroxylase activityGO:0303439.2CYP3A4, CYP27A1
2steroid hydroxylase activityGO:0083958.9CYP27A1, CYP3A4
3iron ion bindingGO:0055068.7CYP3A4, CYP7A1, CYP27A1
4heme bindingGO:0200378.6CYP3A4, CYP7A1, CYP27A1

Products for genes affiliated with Xanthomatosis

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Sources for Xanthomatosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet