CTX
MCID: CRB011
MIFTS: 77

Cerebrotendinous Xanthomatosis (CTX) malady

Neuronal diseases, Eye diseases, Liver diseases, Skin diseases, Metabolic diseases, Endocrine diseases categories

Summaries for Cerebrotendinous Xanthomatosis

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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Genetics Home Reference:21 Cerebrotendinous xanthomatosis is a fat (lipid) storage disorder that affects many areas of the body. People with this disorder cannot break down certain lipids effectively, specifically different forms of cholesterol, so these fats accumulate in various areas of the body. Xanthomatosis refers to the formation of fatty yellow nodules (xanthomas). Cerebrotendinous refers to the typical locations of the xanthomas (cerebro- meaning the brain and -tendinous meaning connective tissue called tendons that attach muscle to bone).

MalaCards: Cerebrotendinous Xanthomatosis, also known as CTX, is related to xanthomatosis and osteoporosis, and has symptoms including malabsorption/chronic diarrhea/steatorrhea, hepatitis/icterus/cholestasis and urinary/renal lithiasis/kidney stones/nephritic colic. An important gene associated with Cerebrotendinous Xanthomatosis is CYP27A1 (cytochrome P450, family 27, subfamily A, polypeptide 1), and among its related pathways are Scavenging by Class A Receptors and Vitamin digestion and absorption. The compounds estrogen and 24s-hydroxy-cholesterol have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and lung, and related mouse phenotypes are integument and liver/biliary system.

Disease Ontology:8 A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has material basis in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma.

NIH Rare Diseases:42 Cerebrotendinous xanthomatosis is a type of lipid storage disease. symptoms of this condition include diarrhea in infants, cataracts in children, tendon xanthomas, and progressive neurologic dysfunction. it is caused by mutations in the cyp27a1 gene. treatment may involve chenodeoxycholic acid (cdca), inhibitors of hmg-coa reductase, and surgery to remove cataracts. last updated: 9/12/2013

Wikipedia:63 Cerebrotendineous xanthomatosis or cerebrotendinous xanthomatosis (CTX), also called cerebral... more...

Description from OMIM:46 213700

GeneReviews summary for ctx

Aliases & Classifications for Cerebrotendinous Xanthomatosis

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8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 22GTR, 60UMLS, 44Novoseek, 39NCIt, 34MeSH, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
cerebrotendinous xanthomatosis:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Adult


Aliases & Descriptions:

cerebrotendinous xanthomatosis 8 9 19 42 20 21 46 10 48
ctx 19 42 21 48
cholestanol storage disease 8 22 21
cerebral cholesterinosis 19 42 21
xanthomatosis, cerebrotendinous 21 60
van bogaert-scherer-epstein disease 21
sterol 27-hydroxylase deficiency 48
cerebrotendinous cholesterinosis 21
xanthomatosis cerebrotendinous 44


External Ids:

Disease Ontology8 DOID:4810
NCIt39 C84628
MeSH34 D019294
OMIM46 213700
SNOMED-CT56 63246000
MESH via Orphanet35 D019294
ICD10 via Orphanet26 E75.5
SNOMED-CT via Orphanet57 63246000
UMLS via Orphanet61 C0238052

Related Diseases for Cerebrotendinous Xanthomatosis

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17GeneCards, 18GeneDecks
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Diseases related to Cerebrotendinous Xanthomatosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 134)
idRelated DiseaseScoreTop Affiliating Genes
1xanthomatosis32.1CYP7A1, APOB
2osteoporosis30.6CALCA, NR1H2, CYP27B1, CYP3A4, HMGCR, SP1
3hepatitis30.6CYP3A4
4familial hypercholesterolemia30.4HMGCR, APOB
5dementia30.4CYP27A1, SP1
6sitosterolemia30.2CYP7A1, HMGCR
7smith-lemli-opitz syndrome30.2HMGCR
8acute myocardial infarction30.2HMGCR, APOB, APOA1
9rickets30.2CYP27A1, CYP3A4, CYP27B1, NR1H2
10myocardial infarction30.2SP1, HMGCR, APOB, APOA1
11atherosclerosis30.2APOA1, APOB, NR1H2, NR1H4, CYP27A1, CYP7A1
12osteoarthritis30.0NR1H4, NR1H2, CALCA
13rheumatoid arthritis30.0APOA1, NR1H2, CYP27B1, CYP3A4, HMGCR
14arthritis30.0CALCA, NR1H2, HMGCR, SP1
15hepatitis b29.8SP1, APOA1
16obesity29.8APOA1, APOB, NR1H2, NR1H4, CYP3A4
17breast cancer29.8CALCA, NR1H2, NR1H4, CYP27B1, CYP3A4, SP1
18cataract10.6
19pneumonia10.6
20diarrhea10.5
21neuropathy10.5
22cerebritis10.4
23peripheral neuropathy10.4
24polyneuropathy10.4
25bone fracture10.3
26coronary artery disease10.3
27lipid storage disease10.3
28tendinitis10.2
29parametritis10.2
30tabes dorsalis10.2
31lymphangioleiomyomatosis10.2
32coronary aneurysm10.2
33blepharospasm10.2
34nephrolithiasis10.2
35nephrocalcinosis10.2
36aneurysm disease10.2
37autonomic neuropathy10.2
38brain disease10.2
39capillary disease10.2
40cerebellar ataxia10.2
41gallbladder cancer10.2
42leukodystrophy10.2
43liver disease10.2
44multiple sclerosis10.2
45myopathy10.2
46tauopathy10.2
47thrombocytopenia10.2
48neurologic diseases10.2
49char syndrome10.2
50shigellosis10.1

Graphical network of the top 20 diseases related to Cerebrotendinous Xanthomatosis:



Diseases related to cerebrotendinous xanthomatosis

Clinical Features for Cerebrotendinous Xanthomatosis

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46OMIM, 48Orphanet
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Clinical features from OMIM:

213700

Clinical synopsis from OMIM:

213700

Symptoms:

48 (show all 31)
  • malabsorption/chronic diarrhea/steatorrhea
  • hepatitis/icterus/cholestasis
  • urinary/renal lithiasis/kidney stones/nephritic colic
  • intracranial/cerebral calcifications
  • eeg anomalies
  • seizures/epilepsy/absences/spasms/status epilepticus
  • restricted joint mobility/joint stiffness/ankylosis
  • joint/articular deformation
  • autosomal recessive inheritance
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • muscle weakness/flaccidity
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • peripheral neuropathy
  • midbrain/brainstem/pons/medulla anomalies
  • arterial atheroma/precocious atherosclerosis/arteriosclerosis
  • angor pectoris/myocardial infarction
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • myoclonus/fasciculations
  • xanthomas/lipomas
  • cataract/lens opacification
  • tremor
  • dystonia/torticollis/writer's cramp/blepharospasms
  • delirium/hallucination
  • psychic/behavioural troubles
  • psychic/psychomotor regression/dementia/intellectual decline
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • hypereflexia
  • hypertonia/spasticity/rigidity/stiffness
  • pyramidal syndrome
  • extrapyramidal syndrome
  • anomalies of eyes and vision

Drugs & Therapeutics for Cerebrotendinous Xanthomatosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Cerebrotendinous Xanthomatosis

Drug clinical trials:

Search ClinicalTrials for Cerebrotendinous Xanthomatosis

Search NIH Clinical Center for Cerebrotendinous Xanthomatosis

Search CenterWatch for Cerebrotendinous Xanthomatosis

Genetic Tests for Cerebrotendinous Xanthomatosis

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20GeneTests, 22GTR
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Genetic tests related to Cerebrotendinous Xanthomatosis:

id Genetic test Affiliating Genes
1 Cerebrotendinous Xanthomatosis20 CYP27A1
2 Cholestanol Storage Disease22

Anatomical Context for Cerebrotendinous Xanthomatosis

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32MalaCards
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MalaCards organs/tissues related to Cerebrotendinous Xanthomatosis:

32
Brain, Bone, Lung, Spinal cord, Eye, Liver, Skin, Pons, Kidney, Testes, Heart

Animal Models for Cerebrotendinous Xanthomatosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Cerebrotendinous Xanthomatosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.4FLNC, NR1H2, CYP27B1, CYP7A1, SP1, CALCA
2MP:00053707.0SP1, APOA1, APOB, NR1H2, NR1H4, CYP8B1
3MP:00053766.1CALCA, APOA1, APOB, NR1H2, NR1H4, CYP27B1

Publications for Cerebrotendinous Xanthomatosis

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50PubMed
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Articles related to Cerebrotendinous Xanthomatosis:

(show top 50)    (show all 363)
idTitleAuthorsYear
1
Cerebrotendinous xanthomatosis with the c.379C>T (p.R127W) mutation in the CYP27A1 gene associated with premature age-associated limbic tauopathy. (23659550)
2013
2
Long-term bone density evaluation in cerebrotendinous xanthomatosis: evidence of improvement after chenodeoxycholic acid treatment. (23212544)
2013
3
Myoclonus and dystonia in cerebrotendinous xanthomatosis. (23115103)
2012
4
A case of cerebrotendinous xanthomatosis presenting with epilepsy as an initial symptom with a novel V413D mutation in the CYP27A1 gene. (22336472)
2012
5
Two siblings with cerebrotendinous xanthomatosis. (23086033)
2012
6
Early-onset epilepsy as the main neurological manifestation of cerebrotendinous xanthomatosis. (22658436)
2012
7
Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis. (21104094)
2011
8
Monitoring of 7I+-hydroxy-4-cholesten-3-one during therapy of cerebrotendinous xanthomatosis: a case report. (21679699)
2011
9
Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey. (21645175)
2011
10
Cerebrotendinous xanthomatosis and anaesthesia. (20627886)
2010
11
Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat. (19117873)
2009
12
Children with cataract and chronic diarrhoea: cerebrotendinous xanthomatosis. (19266310)
2009
13
Cerebrotendinous xanthomatosis]. (19034999)
2008
14
High-throughput urine screening for Smith-Lemli-Opitz syndrome and cerebrotendinous xanthomatosis using negative electrospray tandem mass spectrometry. (17341417)
2007
15
New insights into the pathological mechanisms of cerebrotendinous xanthomatosis in the Taiwanese using genomic and proteomic tools. (16372260)
2006
16
Cerebrotendinous xanthomatosis: possible higher prevalence than previously recognized. (16157755)
2005
17
Disrupted coordinate regulation of farnesoid X receptor target genes in a patient with cerebrotendinous xanthomatosis. (15576845)
2005
18
Inherited cholesterol lipidosis: cerebrotendinous xanthomatosis (van Bogaert Scherer Epstein disease). A clinicopathological study. (16320823)
2005
19
Hydrophilic 7 beta-hydroxy bile acids, lovastatin, and cholestyramine are ineffective in the treatment of cerebrotendinous xanthomatosis. (15131757)
2004
20
Article: Cerebrotendinous Xanthomatosis in three siblings from a Chinese family. (14740780)
2003
21
Mutation of the sterol 27-hydroxylase gene ( CYP27A1) in a Taiwanese family with cerebrotendinous xanthomatosis. (12242561)
2002
22
Cerebrotendinous xanthomatosis in three siblings from a Chinese family. (11361235)
2001
23
Diphenylpyraline-responsive parkinsonism in cerebrotendinous xanthomatosis: long-term follow up of three patients. (11137513)
2001
24
Cerebrotendinous xanthomatosis without xanthomas. (10668932)
1999
25
Silent nucleotide substitution in the sterol 27-hydroxylase gene (CYP 27) leads to alternative pre-mRNA splicing by activating a cryptic 5' splice site at the mutant codon in cerebrotendinous xanthomatosis patients. (9521761)
1998
26
A novel mutation in the sterol 27-hydroxylase gene of a Pakistani family with autosomal recessive cerebrotendinous xanthomatosis. (9008528)
1997
27
Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis. (8931710)
1996
28
The neuropathology of cerebrotendinous xanthomatosis revisited: a case report and review of the literature. (7484100)
1995
29
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
30
Treatment of cerebrotendinous xanthomatosis: effects of chenodeoxycholic acid, pravastatin, and combined use. (7964884)
1994
31
Cerebrotendinous xanthomatosis: molecular diagnosis enables presymptomatic detection of a treatable disease. (8309576)
1994
32
Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis. (8231848)
1993
33
Paediatric cerebrotendinous xanthomatosis. (1405473)
1992
34
Biochemical abnormalities in cerebrotendinous xanthomatosis. (1817043)
1991
35
Use of determinations of 7-lathosterol (5 alpha-cholest-7-en-3 beta-ol) and other cholesterol precursors in serum in the study and treatment of disturbances of sterol metabolism, particularly cerebrotendinous xanthomatosis. (1856606)
1991
36
Use of positive ion fast atom bombardment mass spectrometry for rapid identification of a bile alcohol glucuronide isolated from cerebrotendinous xanthomatosis patients. (2183402)
1990
37
Hepatic 7 alpha-dehydroxylation of bile acid intermediates, and its significance for the pathogenesis of cerebrotendinous xanthomatosis. (3367085)
1988
38
Increased plasma bile alcohol glucuronides in patients with cerebrotendinous xanthomatosis: effect of chenodeoxycholic acid. (3668385)
1987
39
Peripheral neuropathy in cerebrotendinous xanthomatosis. (2994606)
1985
40
Effect of chenodeoxycholic acid on biliary and urinary bile acids and bile alcohols in cerebrotendinous xanthomatosis; monitoring by high performance liquid chromatography. (4031647)
1985
41
Cerebrotendinous xanthomatosis. (4022076)
1985
42
Absolute configuration at carbon 23 of 5 beta-cholestane-3 alpha,7 alpha,12 alpha,23,25-pentol excreted by patients with cerebrotendinous xanthomatosis. (6491531)
1984
43
Cerebrotendinous xanthomatosis. (6504107)
1984
44
Diagnosis of cerebrotendinous xanthomatosis (CTX) and effect of chenodeoxycholic acid therapy by analysis of urine using capillary gas chromatography. (6883710)
1983
45
Identification of 5 beta-cholestane-3 alpha, 7 alpha, 12 alpha, 25, 26-pentol in cerebrotendinous xanthomatosis. (6679948)
1983
46
A unique patient with coexisting cerebrotendinous xanthomatosis and beta-sitosterolemia. (7258222)
1981
47
Cholic acid biosynthesis: the enzymatic defect in cerebrotendinous xanthomatosis. (762246)
1979
48
Evidence for the early reduction of the 24,25 double bond in the conversion of lanosterol to cholesterol in cerebrotendinous xanthomatosis. (865281)
1977
49
A biochemical abnormality in cerebrotendinous xanthomatosis. Impairment of bile acid biosynthesis associated with incomplete degradation of the cholesterol side chain. (4825231)
1974
50
Cerebrotendinous xanthomatosis: in vivo labeling of cerebral sterols and sterol esters. (5159092)
1971

Genetic Variations for Cerebrotendinous Xanthomatosis

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Cerebrotendinous Xanthomatosis:

62
id Symbol AA change Variation ID SNP ID
1CYP27A1p.Arg395CysVAR_001303
2CYP27A1p.Arg479CysVAR_001304
3CYP27A1p.Arg395SerVAR_012285
4CYP27A1p.Arg405GlnVAR_012286
5CYP27A1p.Arg474GlnVAR_012287
6CYP27A1p.Arg474TrpVAR_012288
7CYP27A1p.Gly145GluVAR_016966

Expression for genes affiliated with Cerebrotendinous Xanthomatosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cerebrotendinous Xanthomatosis

Search GEO for disease gene expression data for Cerebrotendinous Xanthomatosis.

Pathways for genes affiliated with Cerebrotendinous Xanthomatosis

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53Reactome, 29KEGG, 37NCBI BioSystems Database, 12EMD Millipore, 49PharmGKB
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Pathways related to Cerebrotendinous Xanthomatosis according to GeneCards/GeneDecks:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6APOB, APOA1
29.6APOB, APOA1
39.6APOB, APOA1
4
Vitamin D2 (ergocalciferol) metabolism
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9.4CYP27A1, CYP3A4, CYP27B1
59.4NR1H4, CYP3A4, CYP7A1
6
Hide members
9.3NR1H2, HMGCR, SP1
79.3APOA1, APOB, NR1H4
8
Transcription Role of VDR in regulation of genes involved in osteoporosis
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9.3CYP3A4, CYP27B1, CALCA
99.2CYP7A1, CYP27A1, CYP8B1
10
Hide members
9.2CYP7A1, CYP27A1, CYP8B1
11
Hide members
9.1APOA1, APOB, CYP7A1, HMGCR
129.1NR1H4, CYP3A4, CYP7A1, HMGCR
13
Hide members
9.1APOA1, CYP7A1, HMGCR, SP1
148.8APOA1, CYP8B1, CYP27A1, CYP7A1
15
Hide members
8.4CYP27B1, CYP8B1, CYP3A4, CYP27A1, CYP7A1
16
Hide members
8.4CYP27B1, CYP8B1, CYP3A4, CYP27A1, CYP7A1
178.3CYP7A1, CYP3A4, CYP8B1, CYP27B1, NR1H4
18
Hide members
6.9APOA1, APOB, FDX1, CYP27B1, CYP8B1, CYP3A4

Compounds for genes affiliated with Cerebrotendinous Xanthomatosis

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44Novoseek, 28IUPHAR, 59Tocris Bioscience, 11DrugBank, 24HMDB, 49PharmGKB
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Compounds related to Cerebrotendinous Xanthomatosis according to GeneCards/GeneDecks:

(show top 50)    (show all 152)
idCompoundScoreTop Affiliating Genes
1estrogen4410.6CYP7A1
224s-hydroxy-cholesterol4410.0HMGCR, CYP7A1, CYP27A1
37alpha-hydroxy-4-cholesten-3-one449.8HMGCR, CYP7A1, CYP27A1, NR1H2
4sitosterol449.8HMGCR, CYP7A1, APOB
527-hydroxycholesterol44 2810.8CYP7A1, CYP27A1, HMGCR, NR1H2
6colestipol449.8HMGCR, APOB, APOA1
7alfacalcidol44 59 1111.7CALCA, CYP27B1, CYP27A1
8bile acid449.7NR1H2, HMGCR, NR1H4, CYP7A1
9Ergocalciferol11 2410.7CYP27B1, CYP27A1, CYP3A4
10ursodeoxycholic acid44 11 2411.6HMGCR, NR1H4, NR1H2, CYP7A1
11campesterol44 2410.6HMGCR, APOB, APOA1
127-ketocholesterol44 2410.5CYP27A1, APOA1, APOB, HMGCR
13cholestyramine449.5CYP7A1, HMGCR, APOB
14cholesterol ester449.5APOA1, HMGCR, CYP7A1, APOB
15ciprofibrate44 2810.4HMGCR, NR1H2, APOB, APOA1
16tocopherol449.4APOA1, HMGCR, APOB, NR1H2
17ketoconazole44 28 11 2412.3HMGCR, NR1H2, CYP27B1, CYP3A4
1822r-hydroxycholesterol44 2810.2NR1H2, FDX1, NR1H4, APOA1
19gemfibrozil44 28 1111.2CYP3A4, APOB, APOA1, HMGCR
20rosuvastatin44 49 28 1112.2HMGCR, CYP3A4, APOB, APOA1
21cerivastatin44 49 28 1112.2HMGCR, APOB, CYP3A4, APOA1
22fenofibric acid44 2810.1HMGCR, APOB, APOA1
23cholic acid44 28 11 2412.1CYP7A1, CYP27A1, CYP8B1, NR1H4
24bezafibrate44 28 1111.0APOB, CYP3A4, APOA1, CYP7A1, HMGCR
25pravastatin44 49 28 11 2413.0HMGCR, APOA1, APOB, CYP3A4, CYP7A1
26raloxifene44 28 49 1112.0CALCA, CYP3A4, APOA1, NR1H2
2725-hydroxyvitamin d449.0CYP27A1, CALCA, APOA1, FDX1, CYP27B1
28atorvastatin44 49 28 11 2413.0APOA1, HMGCR, APOB, CYP3A4, CYP7A1
29ezetimibe44 119.9HMGCR, APOA1, APOB, NR1H2, CYP3A4
30fenofibrate44 49 1110.9APOB, NR1H2, CYP3A4, HMGCR, APOA1
31taurocholate448.9APOA1, APOB, NR1H2, NR1H4, CYP7A1, HMGCR
32rifampicin44 28 5910.9CYP7A1, NR1H2, CYP3A4, SP1
33kininogen448.9APOA1, APOB, NR1H4, NR1H2
34thyroxine44 249.9CALCA, HMGCR, APOA1, APOB, NR1H2
35prostacyclin448.9HMGCR, CYP7A1, CYP27A1, SP1, APOA1, NR1H2
36fluvastatin44 49 28 1111.9APOA1, HMGCR, APOB, CYP3A4
37vitamin d448.7SP1, CYP27B1, CYP27A1, NR1H2, CALCA, NR1H4
38simvastatin44 49 59 28 11 2413.5APOA1, APOB, CYP3A4, CYP27A1, HMGCR, SP1
391,25 dihydroxy vitamin d3448.5CALCA, NR1H2, FDX1, CYP27B1, CYP27A1, SP1
40heme28 11 2410.5CYP27B1, CYP27A1, CYP7A1, CYP3A4, CYP8B1
41dexamethasone44 49 28 1111.4FDX1, CYP7A1, CYP27A1, CYP3A4, NR1H2, SP1
42calcitriol44 59 11 2411.3SP1, CALCA, NR1H2, CYP27A1, CYP3A4, CYP27B1
43retinoic acid44 248.9CYP27B1, CYP27A1, NR1H4, NR1H2, SP1, APOA1
44nadph44 248.9FDX1, CYP27B1, CYP8B1, CYP3A4, CYP27A1, CYP7A1
45steroid447.8CYP7A1, SP1, CYP3A4, CYP27A1, CYP27B1, FDX1
46chenodeoxycholic acid44 28 11 2410.7HMGCR, APOB, CYP7A1, NR1H2, NR1H4, CYP8B1
47lipid447.7NR1H2, HMGCR, CYP7A1, CYP27A1, CYP27B1, FDX1
48testosterone44 59 11 2410.1CALCA, APOA1, SP1, CYP3A4, CYP27B1, FDX1
49cholesterol44 28 11 249.9APOA1, HMGCR, NR1H2, NR1H4, FDX1, CYP27B1
50sterol446.7APOB, CYP27A1, CYP7A1, HMGCR, SP1, APOA1

GO Terms for genes affiliated with Cerebrotendinous Xanthomatosis

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16Gene Ontology
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Cellular components related to Cerebrotendinous Xanthomatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1very-low-density lipoprotein particleGO:0343619.6APOB, APOA1
2endocytic vesicle lumenGO:0716829.3APOB, APOA1
3endoplasmic reticulum membraneGO:0057898.1HMGCR, CYP7A1, CYP3A4, CYP8B1, APOB

Biological processes related to Cerebrotendinous Xanthomatosis according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1regulation of bile acid biosynthetic processGO:07085710.1CYP7A1, NR1H4
2calcitriol biosynthetic process from calciolGO:0363789.9CYP3A4, CYP27B1
3lipoprotein biosynthetic processGO:0421589.8APOA1, APOB
4positive regulation of lipid storageGO:0108849.8NR1H2, APOB
5vitamin D metabolic processGO:0423599.7CYP3A4, CYP27B1
6endothelial cell proliferationGO:0019359.7APOA1, CALCA
7cholesterol effluxGO:0333449.6APOB, APOA1
8sterol metabolic processGO:0161259.4CYP7A1, CYP27A1, CYP8B1
9bile acid biosynthetic processGO:0066999.4CYP8B1, CYP27A1, CYP7A1
10cholesterol transportGO:0303019.3APOB, APOA1
11response to lipopolysaccharideGO:0324969.3APOB, NR1H4, CYP27B1
12cholesterol homeostasisGO:0426329.3CYP7A1, NR1H2, APOB, APOA1
13bile acid metabolic processGO:0082069.1NR1H4, CYP8B1, CYP27A1, CYP7A1
14cholesterol metabolic processGO:0082039.0APOA1, APOB, FDX1, CYP27A1
15cellular lipid metabolic processGO:0442559.0APOA1, NR1H2, CYP7A1, HMGCR, SP1
16xenobiotic metabolic processGO:0068058.6CYP27B1, CYP8B1, CYP3A4, CYP27A1, CYP7A1
17small molecule metabolic processGO:0442816.4SP1, APOA1, APOB, FDX1, CYP27B1, CYP8B1

Molecular functions related to Cerebrotendinous Xanthomatosis according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1retinoid X receptor bindingGO:0469659.8NR1H4, NR1H2
2vitamin D3 25-hydroxylase activityGO:0303439.7CYP27A1, CYP3A4
3steroid hydroxylase activityGO:0083959.6CYP3A4, CYP27A1
4cholesterol transporter activityGO:0171279.3APOB, APOA1
5heme bindingGO:0200378.4CYP27B1, CYP8B1, CYP3A4, CYP27A1, CYP7A1
6iron ion bindingGO:0055067.9CYP7A1, CYP27A1, CYP3A4, CYP8B1, CYP27B1, FDX1
7electron carrier activityGO:0090557.8FDX1, CYP27B1, CYP8B1, CYP3A4, CYP27A1, CYP7A1

Products for genes affiliated with Cerebrotendinous Xanthomatosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cerebrotendinous Xanthomatosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet