Summaries for Xanthomatosis

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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 based summary: Xanthomatosis, also known as xanthelasmatosis, is related to cerebrotendinous xanthomatosis and sitosterolemia, and has symptoms including abnormality of the skinand hypercholesterolemia. 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 brain, bone and skin, and related mouse phenotype liver/biliary system.

Aliases & Classifications for Xanthomatosis

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Xanthomatosis, Aliases & Descriptions:

Name: Xanthomatosis 9 11 43 60
 
Xanthelasmatosis 9


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Disease Ontology9 DOID:3345
SNOMED-CT55 63103006
MeSH33 D014973

Related Diseases for Xanthomatosis

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Graphical network of the top 20 diseases related to Xanthomatosis:



Diseases related to xanthomatosis

Symptoms for Xanthomatosis

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HPO human phenotypes related to Xanthomatosis:

id Description Frequency HPO Source Accession
1 abnormality of the skin HP:0000951
2 hypercholesterolemia HP:0003124

Drugs & Therapeutics for Xanthomatosis

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Drug clinical trials:

Search ClinicalTrials for Xanthomatosis

Search NIH Clinical Center for Xanthomatosis

Genetic Tests for Xanthomatosis

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Anatomical Context for Xanthomatosis

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MalaCards organs/tissues related to Xanthomatosis:

31
Brain, Bone, Skin, Testes, Liver, T cells, Spinal cord, Heart, Eye, Lymph node, Smooth muscle, Small intestine, Colon, Adrenal gland, Monocytes, Neutrophil

Animal Models for Xanthomatosis or affiliated genes

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MGI Mouse Phenotypes related to Xanthomatosis:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.0NR1H4, CYP7A1, CYP27A1

Publications for Xanthomatosis

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Articles related to Xanthomatosis:

(show top 50)    (show all 533)
idTitleAuthorsYear
1
A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. (24442603)
2014
2
A case of diffuse plane normolipemic xanthomatosis presenting with oral lesions. (24819652)
2014
3
Cerebrotendinous xanthomatosis--the spectrum of imaging findings. (23705046)
2013
4
Severe xanthomatosis with prominent tuberous xanthomas on the cheeks and the nasal dorsum in a patient with type IIa hyperlipoproteinemia. (24047578)
2013
5
Fluoxetine-responsive depression in a Chinese cerebrotendinous xanthomatosis. (22133984)
2012
6
Myoclonus and dystonia in cerebrotendinous xanthomatosis. (23115103)
2012
7
A case of cerebrotendinous xanthomatosis presenting with epilepsy as an initial symptom with a novel V413D mutation in the CYP27A1 gene. (22336472)
2012
8
Botulinum toxin-responsive oromandibular dystonia in cerebrotendinous xanthomatosis. (21531161)
2011
9
Cerebrotendinous xanthomatosis: a rare cause of spinocerebellar syndrome. (22212991)
2011
10
Diffuse xanthomatosis as a presenting feature of multiple myeloma. (20015339)
2010
11
Best cases from the AFIP: atypical imaging features of bilateral Achilles tendon xanthomatosis. (19001659)
2008
12
Cerebrotendinous xanthomatosis: report of two Brazilian brothers. (15608974)
2004
13
Cholesterol, corneal lipidosis, and xanthomatosis in amphibians. (12616838)
2003
14
Cerebrotendinous xanthomatosis: neuroimaging findings in two siblings from an Indian family. (14652454)
2003
15
Diffuse plane normolipaemic xanthomatosis in a patient with chronic lymphatic leukaemia and monoclonal gammopathy. (12077546)
2002
16
Cerebrotendinous xanthomatosis with psychiatric disorders: report of three siblings and literature review. (12141707)
2002
17
A case of familial type IIa hypercholesterolemia with the clinical features similar to cerebrotendinous xanthomatosis]. (10885331)
2000
18
Genetic analysis enables definite and rapid diagnosis of cerebrotendinous xanthomatosis. (9748042)
1998
19
Partial deletion of the gene encoding sterol 27-hydroxylase in a subject with cerebrotendinous xanthomatosis. (8728327)
1996
20
A novel mutation in the cytochrome P450(27) (CYP27) gene caused cerebrotendinous xanthomatosis in a Japanese family. (8728324)
1996
21
Severe xanthomatosis associated with familial apolipoprotein E deficiency. (9038735)
1996
22
Determination of the glucurono-conjugated position in bile alcohol glucuronides present in a patient with cerebrotendinous xanthomatosis. (8539780)
1995
23
Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family. (7860076)
1995
24
Historical aspects of cerebrotendinous xanthomatosis (CTX). (11619019)
1995
25
Normolipemic xanthomatosis. (7479470)
1995
26
Ocular and systemic manifestations of cerebrotendinous xanthomatosis. (7485361)
1995
27
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
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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Search GEO for disease gene expression data for Xanthomatosis.

Pathways for genes affiliated with Xanthomatosis

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Pathways related to Xanthomatosis according to GeneCards Suite gene sharing:

(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)36
9.5CYP7A1, CYP27A1
3
Show member pathways
9.3HMGCR, CYP7A1
4
Show member pathways
9.3HMGCR, CYP7A1
5
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism36
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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Compounds related to Xanthomatosis according to GeneCards Suite gene sharing:

(show top 50)    (show all 82)
idCompoundScoreTop Affiliating Genes
1cholestanol439.9CYP27A1, CYP7A1
2guggulsterone43 28 5911.8CYP7A1, NR1H4
3apomine439.8HMGCR, NR1H4
47-dehydrocholesterol43 2410.7CYP27A1, HMGCR
5sitosterol439.7CYP7A1, HMGCR
6farnesol43 28 24 1212.7NR1H4, HMGCR
77beta-hydroxycholesterol43 2810.7HMGCR, CYP7A1
87-ketocholesterol43 2410.7CYP27A1, HMGCR
9cholestyramine439.7CYP7A1, HMGCR
10lathosterol43 2410.6CYP7A1, HMGCR
11Ergocalciferol24 1210.6CYP27A1, CYP3A4
12lithocholic acid43 28 2411.6CYP7A1, NR1H4
13pegvisomant43 1210.5CYP3A4, CYP27A1
14naringin28 4310.4HMGCR, CYP3A4
15ranolazine49 43 1211.4HMGCR, CYP3A4
16cholic acid43 28 24 1212.4CYP27A1, CYP7A1, NR1H4
1725-hydroxycholesterol43 28 2411.3HMGCR, CYP7A1
187alpha-hydroxy-4-cholesten-3-one439.3CYP7A1, CYP27A1, HMGCR
1924s-hydroxy-cholesterol439.3CYP7A1, CYP27A1, HMGCR
2027-hydroxycholesterol43 2810.3HMGCR, CYP7A1, CYP27A1
21nefazodone43 49 1211.3HMGCR, CYP3A4
22itraconazole43 1210.3CYP3A4, HMGCR
23clofibrate43 28 1211.3HMGCR, CYP3A4
24bile acid439.3NR1H4, CYP7A1, HMGCR
25clarithromycin43 1210.3CYP3A4, HMGCR
26taurocholate439.2HMGCR, NR1H4, CYP7A1
27ursodeoxycholic acid43 24 1211.2HMGCR, CYP7A1, NR1H4
28ticlopidine43 1210.2HMGCR, CYP3A4
29prostacyclin439.2HMGCR, CYP7A1, CYP27A1
30mevalonate439.2HMGCR, NR1H4, CYP7A1
31mibefradil43 28 1211.1CYP3A4, HMGCR
32nelfinavir43 49 1211.1CYP3A4, HMGCR
33ezetimibe43 1210.0HMGCR, CYP3A4
34heme28 24 1211.0CYP27A1, CYP7A1, CYP3A4
35calcitriol43 59 24 1212.0CYP3A4, NR1H4, CYP27A1
36simvastatin43 49 59 28 24 1213.9CYP3A4, HMGCR, CYP27A1
37bezafibrate43 28 1210.9CYP3A4, CYP7A1, HMGCR
38diltiazem43 28 49 1211.9CYP3A4, HMGCR
39pravastatin43 49 28 24 1212.9HMGCR, CYP7A1, CYP3A4
40atorvastatin43 49 28 24 1212.9CYP7A1, HMGCR, CYP3A4
41sterol438.8HMGCR, CYP27A1, CYP7A1, NR1H4
42cholesterol43 28 24 1211.7HMGCR, NR1H4, CYP7A1, CYP27A1
43amiodarone43 49 28 1211.7HMGCR, CYP3A4
44steroid438.5CYP27A1, NR1H4, CYP7A1, CYP3A4
45lipid438.5NR1H4, CYP27A1, HMGCR, CYP7A1
46NADP248.5HMGCR, CYP3A4, CYP7A1, CYP27A1
47nadph43 249.5CYP7A1, HMGCR, CYP27A1, CYP3A4
48retinoic acid43 249.5NR1H4, CYP27A1, CYP7A1, CYP3A4
49chenodeoxycholic acid43 28 24 1211.0CYP7A1, HMGCR, NR1H4, CYP3A4, CYP27A1
50dexamethasone43 49 28 1211.0NR1H4, CYP3A4, CYP7A1, HMGCR, CYP27A1

GO Terms for genes affiliated with Xanthomatosis

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Cellular components related to Xanthomatosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum membraneGO:00057898.5HMGCR, CYP3A4, CYP7A1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1regulation of bile acid biosynthetic processGO:00708579.5NR1H4, CYP7A1
2sterol metabolic processGO:00161259.5CYP27A1, CYP7A1
3bile acid biosynthetic processGO:00066999.4CYP7A1, CYP27A1
4cellular lipid metabolic processGO:00442559.3HMGCR, CYP7A1
5bile acid metabolic processGO:00082069.1NR1H4, CYP7A1, CYP27A1
6xenobiotic metabolic processGO:00068058.7CYP3A4, CYP7A1, CYP27A1
7small molecule metabolic processGO:00442817.8HMGCR, CYP3A4, CYP7A1, CYP27A1

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

idNameGO IDScoreTop Affiliating Genes
1vitamin D3 25-hydroxylase activityGO:00303439.2CYP3A4, CYP27A1
2steroid hydroxylase activityGO:00083958.9CYP27A1, CYP3A4
3iron ion bindingGO:00055068.7CYP3A4, CYP7A1, CYP27A1
4heme bindingGO:00200378.6CYP3A4, CYP7A1, CYP27A1

Products for genes affiliated with Xanthomatosis

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Sources for Xanthomatosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet