CTX
MCID: CRB011
MIFTS: 62

Cerebrotendinous Xanthomatosis (CTX)

Categories: Endocrine diseases, Eye diseases, Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Cerebrotendinous Xanthomatosis

MalaCards integrated aliases for Cerebrotendinous Xanthomatosis:

Name: Cerebrotendinous Xanthomatosis 57 12 24 53 25 59 75 37 13 15
Ctx 57 53 25 59 75
Cholestanol Storage Disease 12 25 29 6
Cerebral Cholesterinosis 57 53 25 75
Xanthomatosis, Cerebrotendinous 44 40 73
Sterol 27-Hydroxylase Deficiency 53 59
Xanthomatosis Cerebrotendinous 76 55
Van Bogaert-Scherer-Epstein Disease 25
Cerebrotendinous Cholesterinosis 25
Cholestanolosis 25

Characteristics:

Orphanet epidemiological data:

59
cerebrotendinous xanthomatosis
Inheritance: Autosomal recessive; Prevalence: 1-9/100000,<1/1000000 (Spain),1-9/100000 (United States); Age of onset: Infancy,Neonatal; Age of death: adult;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cerebrotendinous xanthomatosis:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cerebrotendinous Xanthomatosis

OMIM : 57 Cerebrotendinous xanthomatosis is a rare inherited lipid-storage disease characterized clinically by progressive neurologic dysfunction (cerebellar ataxia beginning after puberty, systemic spinal cord involvement and a pseudobulbar phase leading to death), premature atherosclerosis, and cataracts. Large deposits of cholesterol and cholestanol are found in virtually every tissue, particularly the Achilles tendons, brain, and lungs. Cholestanol, the 5-alpha-dihydro derivative of cholesterol, is enriched relative to cholesterol in all tissues. The diagnosis can be made by demonstrating cholestanol in abnormal amounts in the serum and tendon of persons suspected of being affected. Plasma cholesterol concentrations are low normal in CTX patients. Dotti et al. (2001) examined the ophthalmologic findings of 13 CTX patients. In addition to cataracts, which were found in all cases, optic disc pallor was identified in 6 of the patients. Premature retinal senescence was also observed. In a tabular presentation, Moghadasian et al. (2002) compared and contrasted CTX with 2 other lipid disorders with certain similarities and clinical course: familial hypercholesterolemia (143890) and sitosterolemia (210250). (213700)

MalaCards based summary : Cerebrotendinous Xanthomatosis, also known as ctx, is related to xanthomatosis and sitosterolemia, and has symptoms including angina pectoris, cerebellar ataxia and muscle spasticity. An important gene associated with Cerebrotendinous Xanthomatosis is CYP27A1 (Cytochrome P450 Family 27 Subfamily A Member 1), and among its related pathways/superpathways are Primary bile acid biosynthesis and PPAR signaling pathway. The drugs Ergocalciferol and Vitamin D3 have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and lung, and related phenotypes are joint dislocation and depressivity

Disease Ontology : 12 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.

Genetics Home Reference : 25 Cerebrotendinous xanthomatosis is a disorder characterized by abnormal storage of fats (lipids) in 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 the body in the form of fatty yellow nodules called xanthomas. These xanthomas are most commonly found in the brain and in connective tissue called tendons that attach muscle to bone, which is reflected in the condition name (cerebro- meaning brain and -tendinous referring to tendons).

NIH Rare Diseases : 53 Cerebrotendinous xanthomatosis is a disorder characterized by abnormal storage of fats (lipids) in many areas of the body (lipid storage disease). People with this disorder cannot break down certain lipids effectively (such as cholesterol), so these fats form fatty yellow nodules called xanthomas, that accumulate in the body, especially in the brain and the tendons that attach muscle to bone, which is reflected in the condition name (cerebro- meaning brain and -tendinous referring to tendons). Symptoms may include diarrhea, clouding of the lens of the eyes (cataracts), tendon problems and progressive neurologic problems, such as epilepsy, movement disorders, impaired speech (dysarthria), loss of sensation in the arms and legs (peripheral neuropathy), dementia, hallucinations, and depression. Other symptoms may include brittle bones that are prone to fracture (osteoporosis) and an increased risk of developing heart or lung failure because of lipid buildup. It is caused by mutations in the CYP27A1 gene. Treatment may involve chenodeoxycholic acid (CDCA), inhibitors of HMG-CoA reductase, coenzyme Q10 and surgery to remove cataracts.

UniProtKB/Swiss-Prot : 75 Cerebrotendinous xanthomatosis: Rare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts.

Wikipedia : 76 Cerebrotendineous xanthomatosis or cerebrotendinous xanthomatosis (CTX), also called cerebral... more...

GeneReviews: NBK1409

Related Diseases for Cerebrotendinous Xanthomatosis

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

(show top 50) (show all 117)
# Related Disease Score Top Affiliating Genes
1 xanthomatosis 31.8 CYP27A1 CYP7A1 HMGCR NR1I2
2 sitosterolemia 30.0 CYP27A1 CYP7A1 HMGCR
3 cholestasis 29.8 CYP7A1 NR1H4 NR1I2
4 hypercholesterolemia, familial 29.8 CYP7A1 HMGCR NR1H4
5 leukodystrophy 11.7
6 congenital toxoplasmosis 11.2
7 cholera 10.5
8 keratoconus posticus circumscriptus 10.4
9 cataract 10.4
10 neuropathy 10.4
11 osteoporosis 10.4
12 dementia 10.4
13 diarrhea 10.4
14 polyneuropathy 10.4
15 osteoarthritis 10.3
16 acute cystitis 10.3
17 osteonecrosis 10.3
18 epilepsy 10.3
19 dystonia 10.3
20 peripheral nervous system disease 10.3
21 lipid storage disease 10.3
22 arteries, anomalies of 10.2
23 coronary artery anomaly 10.2
24 liver disease 10.2
25 oromandibular dystonia 10.2
26 degos 'en cocarde' erythrokeratoderma 10.2
27 depression 10.2
28 pneumonia 10.2
29 mastitis 10.1
30 klebsiella pneumonia 10.1
31 bone resorption disease 10.1
32 gastroenteritis 10.1
33 bile acid synthesis defect, congenital, 3 10.1 CYP27A1 NR1H4
34 aortic aneurysm, familial abdominal, 1 10.1
35 multiple sclerosis 10.1
36 marfan syndrome 10.1
37 autism 10.1
38 smith-lemli-opitz syndrome 10.1
39 lysosomal acid lipase deficiency 10.1
40 opitz gbbb syndrome, type i 10.1
41 aceruloplasminemia 10.1
42 langerhans cell histiocytosis 10.1
43 lymphangioleiomyomatosis 10.1
44 coronary heart disease 1 10.1
45 myocardial infarction 10.1
46 alacrima, achalasia, and mental retardation syndrome 10.1
47 acute myocardial infarction 10.1
48 hepatitis 10.1
49 nephrolithiasis 10.1
50 thrombocytopenia 10.1

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



Diseases related to Cerebrotendinous Xanthomatosis

Symptoms & Phenotypes for Cerebrotendinous Xanthomatosis

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
spasticity
dementia
pseudobulbar paralysis
mental retardation
cerebellar ataxia
more
Skeletal:
osteoporosis

Neurologic Peripheral Nervous System:
peripheral neuropathy

Head And Neck Eyes:
juvenile cataracts

Laboratory Abnormalities:
normal to slightly elevated plasma cholesterol
elevated plasma cholestanol
elevated urinary 7 alpha-hydroxylated bile alcohols
sterol 27-hydroxylase deficiency

Respiratory Lung:
respiratory insufficiency

Cardiovascular Heart:
myocardial infarction
angina

Skin Nails Hair Skin:
xanthelasma
tuberous xanthoma

Skeletal Limbs:
tendon xanthomas (achilles tendon, tibial tuberosity)
mri of achilles tendon shows diffuse enlargement of the tendon, multiple hypersignal areas in t(1)- and t(2)-weighted images
fracture


Clinical features from OMIM:

213700

Human phenotypes related to Cerebrotendinous Xanthomatosis:

59 32 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint dislocation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001373
2 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
5 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
6 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
7 tremor 59 32 frequent (33%) Frequent (79-30%) HP:0001337
8 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
9 neurological speech impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002167
10 eeg abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0002353
11 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
12 cerebral calcification 59 32 occasional (7.5%) Occasional (29-5%) HP:0002514
13 cataract 59 32 hallmark (90%) Very frequent (99-80%) HP:0000518
14 hallucinations 59 32 frequent (33%) Frequent (79-30%) HP:0000738
15 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
16 malabsorption 59 32 occasional (7.5%) Occasional (29-5%) HP:0002024
17 abnormality of vision 59 32 hallmark (90%) Very frequent (99-80%) HP:0000504
18 myocardial infarction 59 32 frequent (33%) Frequent (79-30%) HP:0001658
19 angina pectoris 59 32 frequent (33%) Frequent (79-30%) HP:0001681
20 peripheral neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0009830
21 myoclonus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001336
22 dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001332
23 cholestasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001396
24 nephrolithiasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000787
25 hypercholesterolemia 59 32 frequent (33%) Frequent (79-30%) HP:0003124
26 diarrhea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002014
27 abnormality of extrapyramidal motor function 59 32 frequent (33%) Frequent (79-30%) HP:0002071
28 atherosclerosis 59 32 frequent (33%) Frequent (79-30%) HP:0002621
29 abnormality of cholesterol metabolism 59 32 Frequent (79-30%) HP:0003107
30 xanthelasma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001114
31 abnormality of the periventricular white matter 59 32 frequent (33%) Frequent (79-30%) HP:0002518
32 ataxia 32 HP:0001251
33 respiratory insufficiency 32 HP:0002093
34 abnormal pyramidal signs 59 Frequent (79-30%)
35 behavioral abnormality 59 Frequent (79-30%)
36 abnormality of the eye 59 Very frequent (99-80%)
37 osteoporosis 32 HP:0000939
38 cholelithiasis 32 HP:0001081
39 dementia 32 HP:0000726
40 optic disc pallor 32 HP:0000543
41 cerebellar atrophy 32 HP:0001272
42 cerebral atrophy 32 HP:0002059
43 xanthomatosis 59 Very frequent (99-80%)
44 delusions 32 HP:0000746
45 eeg with generalized slow activity 32 HP:0010845
46 pseudobulbar paralysis 32 HP:0007024
47 tendon xanthomatosis 32 HP:0010874
48 abnormality of the dentate nucleus 32 HP:0100321
49 tuberous xanthoma 32 HP:0031290
50 abnormal pyramidal sign 32 frequent (33%) HP:0007256

UMLS symptoms related to Cerebrotendinous Xanthomatosis:


angina pectoris, cerebellar ataxia, muscle spasticity

GenomeRNAi Phenotypes related to Cerebrotendinous Xanthomatosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.02 CYP27B1 HMGCR NR1H3 NR1H4 VCL

MGI Mouse Phenotypes related to Cerebrotendinous Xanthomatosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.73 CYP27A1 CYP27B1 FDX1 NR1H3 NR1H4 VCL
2 homeostasis/metabolism MP:0005376 9.7 CYP27A1 CYP27B1 CYP7A1 HMGCR NR1H3 NR1H4
3 liver/biliary system MP:0005370 9.43 CYP27A1 CYP7A1 HMGCR NR1H3 NR1H4 NR1I2
4 mortality/aging MP:0010768 9.17 CYP7A1 FDX1 HMGCR NR1H3 NR1H4 NR1I2

Drugs & Therapeutics for Cerebrotendinous Xanthomatosis

Drugs for Cerebrotendinous Xanthomatosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ergocalciferol Approved, Nutraceutical Phase 2, Phase 3,Not Applicable 50-14-6 5280793
2
Vitamin D3 Approved, Nutraceutical Phase 2, Phase 3,Phase 3 67-97-0 5280795 6221
3
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Not Applicable 1406-16-2
4 Trace Elements Phase 2, Phase 3,Not Applicable
5 Ergocalciferols Phase 2, Phase 3,Not Applicable
6 Micronutrients Phase 2, Phase 3,Not Applicable
7 Vitamin D2 Phase 2, Phase 3,Not Applicable
8 Bone Density Conservation Agents Phase 2, Phase 3,Not Applicable
9 Calciferol Phase 2, Phase 3,Not Applicable
10 Vitamins Phase 2, Phase 3,Not Applicable
11 Calcium, Dietary Phase 2, Phase 3
12 Hormones Phase 2, Phase 3
13
chenodeoxycholic acid Approved Phase 2,Not Applicable 474-25-9 10133
14
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
15 Antimetabolites Phase 2
16 L 647318 Phase 2
17 Dihydromevinolin Phase 2
18 Cathartics Phase 2,Not Applicable
19 Gastrointestinal Agents Phase 2,Not Applicable
20 Laxatives Phase 2,Not Applicable
21 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
22 Anticholesteremic Agents Phase 2
23 Hypolipidemic Agents Phase 2
24 Lipid Regulating Agents Phase 2
25 Calcifediol Not Applicable 19356-17-3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Vitamin D Supplementation and Male Infertility: The CBG-study a Randomized Clinical Trial Completed NCT01304927 Phase 2, Phase 3 Cholecalciferol and calcium
2 Phase II Study of Cholesterol- and Cholestanol-Free Diet, Lovastatin, and Chenodeoxycholic Acid for Cerebrotendinous Xanthomatosis 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 The Role of Narrowband Ultraviolet B Exposure in the Maintenance of Vitamin D Levels During Winter Completed NCT02275650 Not Applicable
5 Study of Gene Polymorphisms Involved in the Metabolism and Action of Vitamin D in Amyotrophic Lateral Sclerosis Completed NCT02893605
6 Cerebrotendinous Xanthomatosis (CTX) Prevalence Study Recruiting NCT02638220
7 The Prevalence of CTX Disorder in Juvenile Cataract Cases in Turkey Recruiting NCT03584893
8 Clinical Tests to Predict the Success of Assisted Reproductive Techniques Active, not recruiting NCT02437578
9 Cholestanol in Humans Withdrawn NCT00018694 Not Applicable Chenodeoxycholic Acid

Search NIH Clinical Center for Cerebrotendinous Xanthomatosis

Cochrane evidence based reviews: xanthomatosis, cerebrotendinous

Genetic Tests for Cerebrotendinous Xanthomatosis

Genetic tests related to Cerebrotendinous Xanthomatosis:

# Genetic test Affiliating Genes
1 Cholestanol Storage Disease 29 CYP27A1

Anatomical Context for Cerebrotendinous Xanthomatosis

MalaCards organs/tissues related to Cerebrotendinous Xanthomatosis:

41
Brain, Bone, Lung, Eye, Heart, Spinal Cord, Liver

Publications for Cerebrotendinous Xanthomatosis

Articles related to Cerebrotendinous Xanthomatosis:

(show top 50) (show all 1316)
# Title Authors Year
1
Cerebrotendinous xanthomatosis: The diagnostic challenge. ( 29980286 )
2018
2
Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes. ( 29560583 )
2018
3
Liver transplantation due to cerebrotendinous xanthomatosis end-stage liver disease. ( 29796951 )
2018
4
Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment. ( 29260356 )
2018
5
Natural history of neurological abnormalities in cerebrotendinous xanthomatosis. ( 29484516 )
2018
6
A Case of Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene. ( 29434128 )
2018
7
Teaching NeuroImages: Cerebrotendinous xanthomatosis: A rare treatable adult-onset lipid storage disease. ( 29440550 )
2018
8
Usefulness of brain magnetic resonance in the diagnosis of cerebrotendinous xanthomatosis. ( 29599059 )
2018
9
Nationwide survey on cerebrotendinous xanthomatosis in Japan. ( 29321515 )
2018
10
Cerebrotendinous Xanthomatosis with Nodular-hypertrophy of the Lumbosacral Roots. ( 29321402 )
2018
11
Cerebrotendinous Xanthomatosis ataxia responsive to CDCA and Riluzole. ( 29731275 )
2018
12
The combination of urinary CTX-II and serum CS-846: Promising biochemical markers to predict radiographic progression of haemophilic arthropathy-An exploratory study. ( 30044054 )
2018
13
Cytological diagnosis of cerebrotendinous xanthomatosis in two siblings presenting with bilateral ankle swellings and neurological decline. ( 29737592 )
2018
14
Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis. ( 30017468 )
2018
15
Movement disorders in cerebrotendinous xanthomatosis. ( 30054180 )
2018
16
Newborn screening for cerebrotendinous xanthomatosis is the solution for early identification and treatment. ( 30135217 )
2018
17
Cerebrotendinous xanthomatosis presenting with extensive cerebral cortex symptoms: A case report. ( 30278298 )
2018
18
Cerebrotendinous xanthomatosis: The rare "treatable" disease you never consider. ( 30530794 )
2018
19
Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start. ( 30530799 )
2018
20
The frequency of Klebsiella pneumonia encoding genes for CTX-M, TEM-1 and SHV-1 extended-spectrum beta lactamases enzymes isolated from urinary tract infection. ( 29433582 )
2018
21
Investigation for the role of CTX-III and microRNA-98 in diagnosis and treatment of osteoarthritis. ( 30229812 )
2018
22
Genomic features of a multidrug-resistant Enterobacter cloacae ST279 producing CTX-M-15 and AAC(6')-Ib-cr isolated from fatal infectious stomatitis in a crossed pit viper (Bothrops alternatus). ( 30448520 )
2018
23
Development of an LC-MS/MS method to simultaneously monitor maitotoxins and selected ciguatoxins in algal cultures and P-CTX-1B in fish. ( 30502815 )
2018
24
The Changes of CTX, DPD, Osteocalcin, and Bone Mineral Density During the Postmenopausal Period. ( 29961742 )
2018
25
Whole-genome sequencing of a CTX-M-11-encoding and quinolone-non-susceptible Klebsiella pneumoniae ST194 isolate from a hospitalised dog in Greece. ( 29981454 )
2018
26
Diversity of CTX-M-1-producing E. coli from German food samples and genetic diversity of the blaCTX-M-1 region on IncI1 ST3 plasmids. ( 29981716 )
2018
27
Evaluation of the CRE and ESBL ELITe MGB® kits for the accurate detection of carbapenemase- or CTX-M-producing bacteria. ( 29983286 )
2018
28
Sharing more than friendship - transmission of NDM-5 ST167 and CTX-M-9 ST69 Escherichia coli between dogs and humans in a family, Finland, 2015. ( 29991384 )
2018
29
First report of colistin resistance in an OXA-48- and a CTX-M-15 producing Klebsiella pneumoniae clinical isolate in Algeria due to PmrB protein modification and mgrB inactivation. ( 30017731 )
2018
30
Rapid in vitro detection of CTX-M groups 1, 2, 8, 9 resistance genes by LAMP assays. ( 30021007 )
2018
31
Multidrug-resistant CTX-M-15-producing Klebsiella pneumoniae ST231 associated with infection and persistent colonization of dog. ( 30025966 )
2018
32
CTX-M-15 Among Uropathogenic Escherichia coli. ( 30038740 )
2018
33
Use of CTX-I and PINP as bone turnover markers: National Bone Health Alliance recommendations to standardize sample handling and patient preparation to reduce pre-analytical variability. ( 30078776 )
2018
34
Draft genome sequence of an NDM-5, CTX-M-15 and OXA-1 co-producing Escherichia coli ST167 clinical strain isolated from a urine sample. ( 30103014 )
2018
35
Fabrication of magnetic nanochains linked with CTX and curcumin for dual modal imaging detection and limitation of early tumour. ( 30133050 )
2018
36
Whole-Genome Sequence Analysis of CTX-M Containing Escherichia coli Isolates from Retail Meats and Cattle in the United States. ( 30148698 )
2018
37
Complete and assembled genome sequence of an NDM-5- and CTX-M-15-producing Escherichia coli sequence type 617 isolated from wastewater in Switzerland. ( 30149195 )
2018
38
Emergence of CTX-M-1-producing Salmonella enterica serovar Napoli: A novel 'enzyme-pathogen association' in the Italian extended-spectrum β-lactamase (ESBL) endemic context. ( 30172832 )
2018
39
First Report of an OXA-48- and CTX-M-213-Producing Kluyvera Species Clone Recovered from Patients Admitted in a University Hospital in Madrid, Spain. ( 30181367 )
2018
40
First description of the CTX-M9 gene in Salmonella Paratyphi B in Burkina Faso. ( 30193698 )
2018
41
Novel mcr-5.3 variant in a CTX-M-8-producing Escherichia coli ST711 isolated from an infected horse. ( 30202925 )
2018
42
Comparative analyses of CTX prophage region of Vibrio cholerae seventh pandemic wave 1 strains isolated in Asia. ( 30211956 )
2018
43
International high-risk clonal lineages of CTX-M-producing Escherichia coli F-ST648 in free-roaming cats, South America. ( 30227226 )
2018
44
Emergence and dissemination of colistin-resistant Klebsiella pneumoniae isolates expressing OXA-48 plus CTX-M-15 in patients not previously treated with colistin in a Spanish university hospital. ( 30266401 )
2018
45
Characterization of CTX-M type ESBL-producing Enterobacteriaceae isolated from asymptomatic healthy individuals who live in a community of the Okinawa prefecture, Japan. ( 30292768 )
2018
46
Extended-spectrum-β-lactamase (CTX-M)-producing Escherichia coli in wild fishes from a polluted area in the Atlantic Coast of South America. ( 30301029 )
2018
47
Draft genome sequence of a multidrug-resistant CTX-M-15 β-lactamase-producing uropathogenic Escherichia coli isolate (ST131-O25b-H30) from Pakistan exhibiting high potential virulence. ( 30308316 )
2018
48
Prevalence and antibiotic susceptibility pattern of CTX-M type extended-spectrum β-lactamases among clinical isolates of gram-negative bacilli in Jimma, Ethiopia. ( 30342476 )
2018
49
Studies toward the Total Synthesis of Caribbean Ciguatoxin C-CTX-1: Synthesis of the LMN-Ring Fragment through Reductive Olefin Cross-Coupling. ( 30362358 )
2018
50
CTX-M-55-type ESBL-producing Salmonella enterica are emerging among retail meats in Phnom Penh, Cambodia. ( 30376113 )
2018

Variations for Cerebrotendinous Xanthomatosis

UniProtKB/Swiss-Prot genetic disease variations for Cerebrotendinous Xanthomatosis:

75
# Symbol AA change Variation ID SNP ID
1 CYP27A1 p.Arg395Cys VAR_001303 rs121908096
2 CYP27A1 p.Arg479Cys VAR_001304 rs72551322
3 CYP27A1 p.Arg395Ser VAR_012285 rs121908096
4 CYP27A1 p.Arg405Gln VAR_012286 rs121908099
5 CYP27A1 p.Arg474Gln VAR_012287 rs121908097
6 CYP27A1 p.Arg474Trp VAR_012288 rs121908098
7 CYP27A1 p.Gly145Glu VAR_016966 rs72551313

ClinVar genetic disease variations for Cerebrotendinous Xanthomatosis:

6 (show top 50) (show all 270)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP27A1 NM_000784.3(CYP27A1): c.1435C> T (p.Arg479Cys) single nucleotide variant Likely pathogenic rs72551322 GRCh37 Chromosome 2, 219679439: 219679439
2 CYP27A1 NM_000784.3(CYP27A1): c.1435C> T (p.Arg479Cys) single nucleotide variant Likely pathogenic rs72551322 GRCh38 Chromosome 2, 218814716: 218814716
3 CYP27A1 NM_000784.3(CYP27A1): c.1183C> T (p.Arg395Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121908096 GRCh37 Chromosome 2, 219678909: 219678909
4 CYP27A1 NM_000784.3(CYP27A1): c.1183C> T (p.Arg395Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121908096 GRCh38 Chromosome 2, 218814186: 218814186
5 CYP27A1 NM_000784.3(CYP27A1): c.845-1G> A single nucleotide variant Pathogenic rs397515353 GRCh37 Chromosome 2, 219677646: 219677646
6 CYP27A1 NM_000784.3(CYP27A1): c.845-1G> A single nucleotide variant Pathogenic rs397515353 GRCh38 Chromosome 2, 218812923: 218812923
7 CYP27A1 NM_000784.3(CYP27A1): c.844+1G> A single nucleotide variant Pathogenic rs397515354 GRCh37 Chromosome 2, 219677473: 219677473
8 CYP27A1 NM_000784.3(CYP27A1): c.844+1G> A single nucleotide variant Pathogenic rs397515354 GRCh38 Chromosome 2, 218812750: 218812750
9 CYP27A1 NM_000784.3(CYP27A1): c.1421G> A (p.Arg474Gln) single nucleotide variant Pathogenic rs121908097 GRCh37 Chromosome 2, 219679425: 219679425
10 CYP27A1 NM_000784.3(CYP27A1): c.1421G> A (p.Arg474Gln) single nucleotide variant Pathogenic rs121908097 GRCh38 Chromosome 2, 218814702: 218814702
11 CYP27A1 NM_000784.3(CYP27A1): c.1420C> T (p.Arg474Trp) single nucleotide variant Likely pathogenic rs121908098 GRCh37 Chromosome 2, 219679424: 219679424
12 CYP27A1 NM_000784.3(CYP27A1): c.1420C> T (p.Arg474Trp) single nucleotide variant Likely pathogenic rs121908098 GRCh38 Chromosome 2, 218814701: 218814701
13 CYP27A1 NM_000784.3(CYP27A1): c.1214G> A (p.Arg405Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908099 GRCh37 Chromosome 2, 219679132: 219679132
14 CYP27A1 NM_000784.3(CYP27A1): c.1214G> A (p.Arg405Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908099 GRCh38 Chromosome 2, 218814409: 218814409
15 CYP27A1 NM_000784.3(CYP27A1): c.1183C> A (p.Arg395Ser) single nucleotide variant Uncertain significance rs121908096 GRCh37 Chromosome 2, 219678909: 219678909
16 CYP27A1 NM_000784.3(CYP27A1): c.1183C> A (p.Arg395Ser) single nucleotide variant Uncertain significance rs121908096 GRCh38 Chromosome 2, 218814186: 218814186
17 CYP27A1 NM_000784.3(CYP27A1): c.1263+1G> A single nucleotide variant Pathogenic rs397515355 GRCh37 Chromosome 2, 219679182: 219679182
18 CYP27A1 NM_000784.3(CYP27A1): c.1263+1G> A single nucleotide variant Pathogenic rs397515355 GRCh38 Chromosome 2, 218814459: 218814459
19 CYP27A1 NM_000784.3(CYP27A1): c.434G> A (p.Gly145Glu) single nucleotide variant Pathogenic rs72551313 GRCh37 Chromosome 2, 219674478: 219674478
20 CYP27A1 NM_000784.3(CYP27A1): c.434G> A (p.Gly145Glu) single nucleotide variant Pathogenic rs72551313 GRCh38 Chromosome 2, 218809755: 218809755
21 CYP27A1 NM_000784.3(CYP27A1): c.944_948delTGGCC (p.Leu315Glnfs) deletion Likely pathogenic rs397515356 GRCh37 Chromosome 2, 219677746: 219677750
22 CYP27A1 NM_000784.3(CYP27A1): c.944_948delTGGCC (p.Leu315Glnfs) deletion Likely pathogenic rs397515356 GRCh38 Chromosome 2, 218813023: 218813027
23 CYP27A1 NM_000784.3(CYP27A1): c.1016C> T (p.Thr339Met) single nucleotide variant Likely pathogenic rs121908102 GRCh37 Chromosome 2, 219677818: 219677818
24 CYP27A1 NM_000784.3(CYP27A1): c.1016C> T (p.Thr339Met) single nucleotide variant Likely pathogenic rs121908102 GRCh38 Chromosome 2, 218813095: 218813095
25 CYP27A1 NM_000784.3(CYP27A1): c.1435C> G (p.Arg479Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs72551322 GRCh37 Chromosome 2, 219679439: 219679439
26 CYP27A1 NM_000784.3(CYP27A1): c.1435C> G (p.Arg479Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs72551322 GRCh38 Chromosome 2, 218814716: 218814716
27 CYP27A1 NM_000784.3(CYP27A1): c.1374C> A (p.Pro458=) single nucleotide variant Benign rs55998945 GRCh37 Chromosome 2, 219679378: 219679378
28 CYP27A1 NM_000784.3(CYP27A1): c.1374C> A (p.Pro458=) single nucleotide variant Benign rs55998945 GRCh38 Chromosome 2, 218814655: 218814655
29 CYP27A1 NM_000784.3(CYP27A1): c.243G> A (p.Leu81=) single nucleotide variant Benign rs75897848 GRCh37 Chromosome 2, 219647148: 219647148
30 CYP27A1 NM_000784.3(CYP27A1): c.243G> A (p.Leu81=) single nucleotide variant Benign rs75897848 GRCh38 Chromosome 2, 218782425: 218782425
31 CYP27A1 NM_000784.3(CYP27A1): c.882G> A (p.Glu294=) single nucleotide variant Likely benign rs59428328 GRCh37 Chromosome 2, 219677684: 219677684
32 CYP27A1 NM_000784.3(CYP27A1): c.882G> A (p.Glu294=) single nucleotide variant Likely benign rs59428328 GRCh38 Chromosome 2, 218812961: 218812961
33 CYP27A1 NM_000784.3(CYP27A1): c.888A> G (p.Gln296=) single nucleotide variant Benign rs61733619 GRCh37 Chromosome 2, 219677690: 219677690
34 CYP27A1 NM_000784.3(CYP27A1): c.888A> G (p.Gln296=) single nucleotide variant Benign rs61733619 GRCh38 Chromosome 2, 218812967: 218812967
35 CYP27A1 NM_000784.3(CYP27A1): c.1264-1G> A single nucleotide variant Pathogenic rs587778785 GRCh38 Chromosome 2, 218814544: 218814544
36 CYP27A1 NM_000784.3(CYP27A1): c.1017G> C (p.Thr339=) single nucleotide variant Pathogenic rs200553205 GRCh37 Chromosome 2, 219677819: 219677819
37 CYP27A1 NM_000784.3(CYP27A1): c.1017G> C (p.Thr339=) single nucleotide variant Pathogenic rs200553205 GRCh38 Chromosome 2, 218813096: 218813096
38 CYP27A1 NM_000784.3(CYP27A1): c.1061A> G (p.Asp354Gly) single nucleotide variant Pathogenic rs72551320 GRCh37 Chromosome 2, 219678787: 219678787
39 CYP27A1 NM_000784.3(CYP27A1): c.1061A> G (p.Asp354Gly) single nucleotide variant Pathogenic rs72551320 GRCh38 Chromosome 2, 218814064: 218814064
40 Pathogenic NM_000784.3: c.10_11 ins10bp insertion 0 rsRCV000056068 65828
41 CYP27A1 NM_000784.3(CYP27A1): c.1151C> T (p.Pro384Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs41272687 GRCh37 Chromosome 2, 219678877: 219678877
42 CYP27A1 NM_000784.3(CYP27A1): c.1151C> T (p.Pro384Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs41272687 GRCh38 Chromosome 2, 218814154: 218814154
43 Pathogenic NM_000784.3: c.1180-1181delCT deletion 0 rsRCV000056072 65832
44 CYP27A1 NM_000784.3(CYP27A1): c.1184+1G> A single nucleotide variant Pathogenic rs587778777 GRCh37 Chromosome 2, 219678911: 219678911
45 CYP27A1 NM_000784.3(CYP27A1): c.1184+1G> A single nucleotide variant Pathogenic rs587778777 GRCh38 Chromosome 2, 218814188: 218814188
46 CYP27A1 NM_000784.3(CYP27A1): c.1184G> A (p.Arg395His) single nucleotide variant Conflicting interpretations of pathogenicity rs587778778 GRCh37 Chromosome 2, 219678910: 219678910
47 CYP27A1 NM_000784.3(CYP27A1): c.1184G> A (p.Arg395His) single nucleotide variant Conflicting interpretations of pathogenicity rs587778778 GRCh38 Chromosome 2, 218814187: 218814187
48 CYP27A1 NM_000784.3(CYP27A1): c.1185-1G> T single nucleotide variant Pathogenic rs587778779 GRCh37 Chromosome 2, 219679102: 219679102
49 CYP27A1 NM_000784.3(CYP27A1): c.1185-1G> T single nucleotide variant Pathogenic rs587778779 GRCh38 Chromosome 2, 218814379: 218814379
50 CYP27A1 NM_000784.3(CYP27A1): c.1202C> G (p.Pro401Arg) single nucleotide variant Pathogenic rs587778780 GRCh37 Chromosome 2, 219679120: 219679120

Expression for Cerebrotendinous Xanthomatosis

Search GEO for disease gene expression data for Cerebrotendinous Xanthomatosis.

Pathways for Cerebrotendinous Xanthomatosis

Pathways related to Cerebrotendinous Xanthomatosis according to KEGG:

37
# Name Kegg Source Accession
1 Primary bile acid biosynthesis hsa00120
2 PPAR signaling pathway hsa03320

Pathways related to Cerebrotendinous Xanthomatosis according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 CYP27A1 CYP27B1 CYP7A1 FDX1 HMGCR NR1H3
2
Show member pathways
12.83 CYP27A1 CYP27B1 CYP7A1 FDX1 NR1H4
3
Show member pathways
11.91 CYP27A1 CYP7A1 NR1H4
4
Show member pathways
11.65 CYP27A1 CYP7A1 HMGCR
5
Show member pathways
11.45 NR1H3 NR1H4 NR1I2
6 11.3 CYP27A1 CYP7A1 NR1H3
7 11.18 CYP7A1 HMGCR NR1H4
8 11.08 HMGCR NR1I2
9 10.93 CYP7A1 NR1H3
10 10.76 CYP7A1 NR1H4
11 10.74 HMGCR NR1H3
12 10.57 CYP27B1 CYP7A1 NR1H3 NR1H4 NR1I2
13 10.37 CYP27A1 CYP27B1
14 10.36 CYP7A1 NR1H4 NR1I2

GO Terms for Cerebrotendinous Xanthomatosis

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor complex GO:0090575 8.8 NR1H3 NR1H4 NR1I2

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.8 CYP27A1 CYP27B1 CYP7A1 FDX1 HMGCR
2 transcription, DNA-templated GO:0006351 9.69 NR1H3 NR1H4 NR1I2
3 transcription initiation from RNA polymerase II promoter GO:0006367 9.65 NR1H3 NR1H4 NR1I2
4 lipid metabolic process GO:0006629 9.65 CYP7A1 FDX1 HMGCR NR1H3 NR1H4
5 cholesterol homeostasis GO:0042632 9.63 CYP7A1 NR1H3 NR1H4
6 cholesterol metabolic process GO:0008203 9.61 CYP7A1 FDX1 HMGCR
7 steroid biosynthetic process GO:0006694 9.55 FDX1 HMGCR
8 lipid homeostasis GO:0055088 9.54 NR1H3 NR1H4
9 triglyceride homeostasis GO:0070328 9.52 NR1H3 NR1H4
10 steroid hormone mediated signaling pathway GO:0043401 9.5 NR1H3 NR1H4 NR1I2
11 bile acid biosynthetic process GO:0006699 9.49 CYP27A1 CYP7A1
12 regulation of bile acid biosynthetic process GO:0070857 9.37 CYP7A1 NR1H4
13 intracellular receptor signaling pathway GO:0030522 9.33 NR1H3 NR1H4 NR1I2
14 sterol metabolic process GO:0016125 9.13 CYP27A1 CYP7A1 FDX1
15 steroid metabolic process GO:0008202 8.92 CYP7A1 FDX1 HMGCR NR1I2

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.76 CYP27A1 CYP27B1 CYP7A1 HMGCR
2 transcription factor binding GO:0008134 9.71 NR1H3 NR1H4 NR1I2
3 transcription coactivator activity GO:0003713 9.7 NR1H3 NR1H4 NR1I2
4 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.69 NR1H3 NR1H4 NR1I2
5 signaling receptor activity GO:0038023 9.67 NR1H3 NR1H4 NR1I2
6 heme binding GO:0020037 9.61 CYP27A1 CYP27B1 CYP7A1
7 transcription regulatory region sequence-specific DNA binding GO:0000976 9.54 NR1H3 NR1H4 NR1I2
8 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.5 CYP27A1 CYP27B1 CYP7A1
9 nuclear receptor transcription coactivator activity GO:0030374 9.43 NR1H3 NR1H4 NR1I2
10 thyroid hormone receptor activity GO:0004887 9.4 NR1H4 NR1I2
11 steroid hormone receptor activity GO:0003707 9.33 NR1H3 NR1H4 NR1I2
12 nuclear receptor activity GO:0004879 9.13 NR1H3 NR1H4 NR1I2
13 iron ion binding GO:0005506 8.92 CYP27A1 CYP27B1 CYP7A1 FDX1
14 metal ion binding GO:0046872 10.02 CYP27A1 CYP27B1 CYP7A1 FDX1 NR1H3 NR1H4

Sources for Cerebrotendinous Xanthomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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