CTX
MCID: CRB011
MIFTS: 66

Cerebrotendinous Xanthomatosis (CTX) malady

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

Summaries for Cerebrotendinous Xanthomatosis

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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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 joint/articular deformation, autosomal recessive inheritance and eeg anomalies. 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 skin, liver and spinal cord, 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:43 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:64 Cerebrotendineous xanthomatosis or cerebrotendinous xanthomatosis (CTX), also called cerebral... more...

Description from OMIM:47 213700

GeneReviews summary for ctx

Aliases & Classifications for Cerebrotendinous Xanthomatosis

Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 61UMLS, 40NCIt, 35MeSH, 57SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Eye, Liver, Skin, Metabolic, Endocrine


Characteristics (Orphanet epidemiological data):

49
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 43 20 21 47 10 49
ctx 19 43 21 49
cholestanol storage disease 8 22 21
xanthomatosis, cerebrotendinous 21 61
cerebral cholesterinosis 19 43
van bogaert-scherer-epstein disease 21
sterol 27-hydroxylase deficiency 49
xanthomatosis cerebrotendinous 45


External Ids:

Disease Ontology8 DOID:4810
NCIt40 C84628
MeSH35 D019294
OMIM47 213700
SNOMED-CT57 63246000
MESH via Orphanet36 D019294
ICD10 via Orphanet26 E75.5
SNOMED-CT via Orphanet58 63246000
UMLS via Orphanet62 C0238052

Related Diseases for Cerebrotendinous Xanthomatosis

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 128)
idRelated DiseaseScoreTop Affiliating Genes
1xanthomatosis32.2APOB, CYP7A1
2osteoporosis30.7CALCA, SP1, CYP3A4, NR1H2, CYP27B1, HMGCR
3familial hypercholesterolemia30.5APOB, HMGCR
4hypercholesterolemia30.5APOA1, APOB, NR1H4, CYP3A4, CYP27A1, CYP7A1
5hepatitis c30.3HMGCR
6sitosterolemia30.3HMGCR, CYP7A1
7smith-lemli-opitz syndrome30.3HMGCR
8coronary heart disease30.3APOA1, APOB, HMGCR
9acute myocardial infarction30.3APOA1, HMGCR, APOB
10rickets30.3NR1H2, CYP3A4, CYP27A1, CYP27B1
11atherosclerosis30.2APOA1, CYP27A1, APOB, NR1H2, NR1H4, HMGCR
12osteoarthritis30.1NR1H2, CALCA, NR1H4
13arthritis30.1SP1, NR1H2, HMGCR, CALCA
14klebsiella10.6
15ataxia10.5
16lip disease10.4
17bone fracture10.3
18coronary artery disease,10.3
19oromandibular dystonia10.3
20tabes dorsalis10.2
21lymphangioleiomyomatosis10.2
22coronary aneurysm10.2
23blepharospasm10.2
24nephrolithiasis10.2
25nephrocalcinosis10.2
26n syndrome10.2
27aneurysm disease10.2
28autonomic neuropathy10.2
29brain disease10.2
30tauopathy10.2
31thrombocytopenia10.2
32myoclonus-dystonia10.2
33coronary artery aneurysm10.2
34mass syndrome10.2
35autonomic dysfunction10.2
36myoclonus10.2
37spasticity10.2
38char syndrome10.2
39shigellosis10.1
40sepsis10.1
41cholelithiasis10.0CYP7A1
42aspergillosis10.0FLNC
43thyroiditis10.0CALCA
44hepatitis10.0CYP3A4
45complete lcat deficiency10.0APOA1
46complex regional pain syndrome10.0CALCA
47chylomicron retention disease10.0APOB
48asthma10.0NR1H2, FLNC
49hyperthyroidism10.0CYP7A1
50psoriasis10.0NR1H2, CYP27B1

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



Diseases related to cerebrotendinous xanthomatosis

Clinical Features for Cerebrotendinous Xanthomatosis

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

213700

Clinical synopsis from OMIM:

213700

Symptoms:

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

Drugs & Therapeutics for Cerebrotendinous Xanthomatosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Cerebrotendinous Xanthomatosis:

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

Anatomical Context for Cerebrotendinous Xanthomatosis

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Cerebrotendinous Xanthomatosis:

33
Skin, Liver, Spinal cord, Brain, Lung, Heart, T cells, B cells

Animal Models for Cerebrotendinous Xanthomatosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Cerebrotendinous Xanthomatosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.4SP1, CALCA, FLNC, NR1H2, CYP7A1, CYP27B1
2MP:00053707.0APOA1, APOB, NR1H2, NR1H4, CYP8B1, CYP27A1
3MP:00053766.1SP1, CALCA, NR1H2, CYP7A1, APOA1, CYP27A1

Publications for Cerebrotendinous Xanthomatosis

Sources:
51PubMed
See all sources

Articles related to Cerebrotendinous Xanthomatosis:

(show top 50)    (show all 363)
idTitleAuthorsYear
1
Blepharospasm as a new feature of cerebrotendinous xanthomatosis. (23623195)
2013
2
Querying phenotype-genotype relationships on patient datasets using semantic web technology: the example of Cerebrotendinous xanthomatosis. (22849591)
2012
3
Cerebrotendinous xanthomatosis with progressive cerebellar vacuolation : six-year MRI follow-up. (22415344)
2012
4
Acute myocardial infarction in patient with cerebrotendinous xanthomatosis: should these patients undergo stress tests during screening? (21135585)
2012
5
Cerebrotendinous xanthomatosis: a rare cause of spinocerebellar syndrome. (22212991)
2011
6
2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis. (22018287)
2011
7
A compound heterozygous mutation of CYP27A1 gene in a Taiwanese patient with cerebrotendinous xanthomatosis. (21553098)
2011
8
Profiling sterols in cerebrotendinous xanthomatosis: utility of Girard derivatization and high resolution exact mass LC-ESI-MS(n) analysis. (21168372)
2011
9
Cerebrotendinous xanthomatosis presenting with severe externalized disorder: improvement after one year of treatment with chenodeoxycholic Acid. (20414172)
2010
10
MR spectroscopy detects lipid peaks in cerebrotendinous xanthomatosis. (20150306)
2010
11
Cerebrotendinous xanthomatosis: report of 4 patients]. (19457308)
2009
12
Prospective treatment of cerebrotendinous xanthomatosis with cholic acid therapy. (19125350)
2008
13
Cerebrotendinous xanthomatosis presenting with bilateral Achilles tendon xanthomata. (16715243)
2007
14
Cerebrotendinous xanthomatosis: report of two Brazilian brothers. (15608974)
2004
15
Early-onset parkinsonism in cerebrotendinous xanthomatosis. (12465096)
2002
16
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. (10775536)
2000
17
Sudden death due to cerebrotendinous xanthomatosis confirmed by mutation analysis. (10741487)
2000
18
Four novel mutations of sterol 27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis. (9392430)
1997
19
Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family. (7860076)
1995
20
Magnetic resonance imaging of cerebrotendinous xanthomatosis. (7695531)
1995
21
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
22
Treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid in three siblings. (7920069)
1994
23
Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin. (8514861)
1993
24
Radioimmunoassay of 5 beta-cholestane-3 alpha,7 alpha,12 alpha,25-tetrol 3-glucuronide in serum of patients with cerebrotendinous xanthomatosis. (1585391)
1992
25
Cerebrotendinous xanthomatosis in three siblings from a Taiwanese family. (1363642)
1992
26
Electrophysiological studies in cerebrotendinous xanthomatosis. (1312580)
1992
27
Juvenile cataract associated with chronic diarrhea in pediatric cerebrotendinous xanthomatosis. (1951610)
1991
28
Cerebrotendinous xanthomatosis as a multisystem disease mimicking premature ageing. (1817044)
1991
29
Muscle mitochondrial changes in cerebrotendinous xanthomatosis. (1763899)
1991
30
High levels of plant sterols and cholesterol precursors in cerebrotendinous xanthomatosis. (2066659)
1991
31
Central motor and sensory conduction in adrenoleukomyeloneuropathy, cerebrotendinous xanthomatosis, HTLV-1-associated myelopathy and tabes dorsalis. (2851031)
1988
32
Potential application of thin-layer chromatography and thin-layer chromatography with flame ionization detection of cholestanol in the diagnosis of cerebrotendinous xanthomatosis. (3243858)
1988
33
Pregnancy in women with cerebrotendinous xanthomatosis (CTX): high risk condition for fetus and newborn infant? (3223491)
1988
34
Low-density lipoprotein metabolism in cerebrotendinous xanthomatosis. (3821507)
1987
35
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
36
Abnormal urinary bile acids in a patient suffering from cerebrotendinous xanthomatosis during oral administration of ursodeoxycholic acid. (3801500)
1987
37
Biochemical diagnosis of cerebrotendinous xanthomatosis using reversed phase thin layer chromatography. (3086296)
1986
38
Quantitative analysis of the mitochondrial cytochrome P-450-linked monooxygenase system: NADPH-hepatoredoxin reductase, hepatoredoxin, and cytochrome P-450s27 in livers of patients with cerebrotendinous xanthomatosis. (3791635)
1986
39
Configuration at C-25 in 5 beta-cholestane-3 alpha,7 alpha,12 alpha,25,26-pentol excreted by patients with cerebrotendinous xanthomatosis: circular dichroism and 13C-NMR studies. (3559396)
1986
40
A novel route for the biosynthesis of cholestanol, and its significance for the pathogenesis of cerebrotendinous xanthomatosis. (3865344)
1985
41
Capillary gas chromatographic determination of cholestanol/cholesterol ratio in biological fluids. Its potential usefulness for the follow-up of some liver diseases and its lack of specificity in diagnosing CTX (cerebrotendinous xanthomatosis). (6421514)
1984
42
Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. (6504105)
1984
43
EEG in cerebrotendinous xanthomatosis (CTX). (7094358)
1982
44
Simplified determination of cholestanol in serum by gas-liquid chromatography: biochemical diagnosis of cerebrotendinous xanthomatosis. (7287675)
1981
45
De- and remyelination and onion bulb in cerebrotendinous xanthomatosis. (760364)
1979
46
The ultrastructure of lens and iris in cerebrotendinous xanthomatosis. (577091)
1977
47
Cerebrotendinous xanthomatosis. (1247403)
1976
48
Cerebrotendinous xanthomatosis. (5008664)
1972
49
Cholestanolosis (cerebrotendinous xanthomatosis). A follow-up study on the original family. (5355255)
1969
50
Cholestanol storage in the nervous system of two patients with cerebrotendinous xanthomatosis. (5711054)
1968

Genetic Variations for Cerebrotendinous Xanthomatosis

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Cerebrotendinous Xanthomatosis:

63
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database, 12EMD Millipore, 50PharmGKB
See all sources

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
Hide members
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
Hide members
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

Sources:
45Novoseek, 29IUPHAR, 60Tocris Bioscience, 11DrugBank, 24HMDB, 50PharmGKB
See all sources

Compounds related to Cerebrotendinous Xanthomatosis according to GeneCards/GeneDecks:

(show top 50)    (show all 152)
idCompoundScoreTop Affiliating Genes
1estrogen4510.6CYP7A1
224s-hydroxy-cholesterol4510.0HMGCR, CYP7A1, CYP27A1
37alpha-hydroxy-4-cholesten-3-one459.8HMGCR, CYP7A1, CYP27A1, NR1H2
4sitosterol459.8HMGCR, CYP7A1, APOB
527-hydroxycholesterol45 2910.8CYP7A1, CYP27A1, HMGCR, NR1H2
6colestipol459.8HMGCR, APOB, APOA1
7alfacalcidol45 60 1111.7CALCA, CYP27B1, CYP27A1
8bile acid459.7NR1H2, HMGCR, NR1H4, CYP7A1
9Ergocalciferol11 2410.7CYP27B1, CYP27A1, CYP3A4
10ursodeoxycholic acid45 11 2411.6HMGCR, NR1H4, NR1H2, CYP7A1
11campesterol45 2410.6HMGCR, APOB, APOA1
127-ketocholesterol45 2410.5CYP27A1, APOA1, APOB, HMGCR
13cholestyramine459.5CYP7A1, HMGCR, APOB
14cholesterol ester459.5APOA1, HMGCR, CYP7A1, APOB
15ciprofibrate45 2910.4HMGCR, NR1H2, APOB, APOA1
16tocopherol459.4APOA1, HMGCR, APOB, NR1H2
17ketoconazole45 29 11 2412.3HMGCR, NR1H2, CYP27B1, CYP3A4
1822r-hydroxycholesterol45 2910.2NR1H2, FDX1, NR1H4, APOA1
19gemfibrozil45 29 1111.2CYP3A4, APOB, APOA1, HMGCR
20rosuvastatin45 50 29 1112.2HMGCR, CYP3A4, APOB, APOA1
21cerivastatin45 50 29 1112.2HMGCR, APOB, CYP3A4, APOA1
22fenofibric acid45 2910.1HMGCR, APOB, APOA1
23cholic acid45 29 11 2412.1CYP7A1, CYP27A1, CYP8B1, NR1H4
24bezafibrate45 29 1111.0APOB, CYP3A4, APOA1, CYP7A1, HMGCR
25pravastatin45 50 29 11 2413.0HMGCR, APOA1, APOB, CYP3A4, CYP7A1
26raloxifene45 29 50 1112.0CALCA, CYP3A4, APOA1, NR1H2
2725-hydroxyvitamin d459.0CYP27A1, CALCA, APOA1, FDX1, CYP27B1
28atorvastatin45 50 29 11 2413.0APOA1, HMGCR, APOB, CYP3A4, CYP7A1
29ezetimibe45 119.9HMGCR, APOA1, APOB, NR1H2, CYP3A4
30fenofibrate45 50 1110.9APOB, NR1H2, CYP3A4, HMGCR, APOA1
31taurocholate458.9APOA1, APOB, NR1H2, NR1H4, CYP7A1, HMGCR
32rifampicin45 29 6010.9CYP7A1, NR1H2, CYP3A4, SP1
33kininogen458.9APOA1, APOB, NR1H4, NR1H2
34thyroxine45 249.9CALCA, HMGCR, APOA1, APOB, NR1H2
35prostacyclin458.9HMGCR, CYP7A1, CYP27A1, SP1, APOA1, NR1H2
36fluvastatin45 50 29 1111.9APOA1, HMGCR, APOB, CYP3A4
37vitamin d458.7SP1, CYP27B1, CYP27A1, NR1H2, CALCA, NR1H4
38simvastatin45 50 60 29 11 2413.5APOA1, APOB, CYP3A4, CYP27A1, HMGCR, SP1
391,25 dihydroxy vitamin d3458.5CALCA, NR1H2, FDX1, CYP27B1, CYP27A1, SP1
40heme29 11 2410.5CYP27B1, CYP27A1, CYP7A1, CYP3A4, CYP8B1
41dexamethasone45 50 29 1111.4FDX1, CYP7A1, CYP27A1, CYP3A4, NR1H2, SP1
42calcitriol45 60 11 2411.3SP1, CALCA, NR1H2, CYP27A1, CYP3A4, CYP27B1
43retinoic acid45 248.9CYP27B1, CYP27A1, NR1H4, NR1H2, SP1, APOA1
44nadph45 248.9FDX1, CYP27B1, CYP8B1, CYP3A4, CYP27A1, CYP7A1
45steroid457.8CYP7A1, SP1, CYP3A4, CYP27A1, CYP27B1, FDX1
46chenodeoxycholic acid45 29 11 2410.7HMGCR, APOB, CYP7A1, NR1H2, NR1H4, CYP8B1
47lipid457.7NR1H2, HMGCR, CYP7A1, CYP27A1, CYP27B1, FDX1
48testosterone45 60 11 2410.1CALCA, APOA1, SP1, CYP3A4, CYP27B1, FDX1
49cholesterol45 29 11 249.9APOA1, HMGCR, NR1H2, NR1H4, FDX1, CYP27B1
50sterol456.7APOB, CYP27A1, CYP7A1, HMGCR, SP1, APOA1

GO Terms for genes affiliated with Cerebrotendinous Xanthomatosis

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cerebrotendinous Xanthomatosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet