CTX
MCID: CRB011
MIFTS: 64

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 58 12 25 54 26 60 76 38 13 15
Ctx 58 54 26 60 76
Cholestanol Storage Disease 12 26 30 6
Cerebral Cholesterinosis 58 54 26 76
Xanthomatosis, Cerebrotendinous 45 41 74
Sterol 27-Hydroxylase Deficiency 54 60
Xanthomatosis Cerebrotendinous 77 56
Van Bogaert-Scherer-Epstein Disease 26
Cerebrotendinous Cholesterinosis 26
Cholestanolosis 26

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive


HPO:

33
cerebrotendinous xanthomatosis:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cerebrotendinous Xanthomatosis

OMIM : 58 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, muscle spasticity and cerebellar ataxia. 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 Calcium and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and lung, and related phenotypes are intellectual disability and cataract

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 : 26 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 : 54 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 : 76 Cerebrotendinous xanthomatosis: Rare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts.

Wikipedia : 77 Cerebrotendineous xanthomatosis also called cerebral cholesterosis, is an autosomal recessive form of... 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 144)
# Related Disease Score Top Affiliating Genes
1 xanthomatosis 31.6 CYP27A1 CYP7A1 HMGCR NR1I2
2 sitosterolemia 30.0 CYP27A1 CYP7A1 HMGCR
3 cholestasis 29.7 CYP7A1 NR1H4 NR1I2
4 hypercholesterolemia, familial 29.7 CYP7A1 HMGCR NR1H4
5 leukodystrophy 11.8
6 congenital toxoplasmosis 11.3
7 cholera 10.7
8 cataract 10.6
9 keratoconus posticus circumscriptus 10.5
10 diarrhea 10.5
11 neuropathy 10.5
12 osteoarthritis 10.4
13 osteoporosis 10.4
14 dementia 10.4
15 polyneuropathy 10.4
16 acute cystitis 10.4
17 osteonecrosis 10.4
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 ataxia and polyneuropathy, adult-onset 10.2
24 coronary artery anomaly 10.2
25 liver disease 10.2
26 oromandibular dystonia 10.2
27 degos 'en cocarde' erythrokeratoderma 10.2
28 depression 10.2
29 pneumonia 10.2
30 mastitis 10.1
31 klebsiella pneumonia 10.1
32 bile acid synthesis defect, congenital, 3 10.1 CYP27A1 NR1H4
33 aortic aneurysm, familial abdominal, 1 10.1
34 multiple sclerosis 10.1
35 marfan syndrome 10.1
36 autism 10.1
37 smith-lemli-opitz syndrome 10.1
38 lysosomal acid lipase deficiency 10.1
39 opitz gbbb syndrome, type i 10.1
40 aceruloplasminemia 10.1
41 langerhans cell histiocytosis 10.1
42 lymphangioleiomyomatosis 10.1
43 coronary heart disease 1 10.1
44 myocardial infarction 10.1
45 muscle hypertrophy 10.1
46 alacrima, achalasia, and mental retardation syndrome 10.1
47 west syndrome 10.1
48 acute myocardial infarction 10.1
49 hepatitis 10.1
50 muscle disorders 10.1

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



Diseases related to Cerebrotendinous Xanthomatosis

Symptoms & Phenotypes for Cerebrotendinous Xanthomatosis

Human phenotypes related to Cerebrotendinous Xanthomatosis:

60 33 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
2 cataract 60 33 hallmark (90%) Very frequent (99-80%) HP:0000518
3 abnormality of vision 60 33 hallmark (90%) Very frequent (99-80%) HP:0000504
4 myoclonus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001336
5 xanthelasma 60 33 hallmark (90%) Very frequent (99-80%) HP:0001114
6 depressivity 60 33 frequent (33%) Frequent (79-30%) HP:0000716
7 spasticity 60 33 frequent (33%) Frequent (79-30%) HP:0001257
8 muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0001324
9 tremor 60 33 frequent (33%) Frequent (79-30%) HP:0001337
10 hyperreflexia 60 33 frequent (33%) Frequent (79-30%) HP:0001347
11 neurological speech impairment 60 33 frequent (33%) Frequent (79-30%) HP:0002167
12 developmental regression 60 33 frequent (33%) Frequent (79-30%) HP:0002376
13 abnormal pyramidal sign 60 33 frequent (33%) Frequent (79-30%) HP:0007256
14 hallucinations 60 33 frequent (33%) Frequent (79-30%) HP:0000738
15 myocardial infarction 60 33 frequent (33%) Frequent (79-30%) HP:0001658
16 angina pectoris 60 33 frequent (33%) Frequent (79-30%) HP:0001681
17 peripheral neuropathy 60 33 frequent (33%) Frequent (79-30%) HP:0009830
18 dystonia 60 33 frequent (33%) Frequent (79-30%) HP:0001332
19 hypercholesterolemia 60 33 frequent (33%) Frequent (79-30%) HP:0003124
20 abnormality of extrapyramidal motor function 60 33 frequent (33%) Frequent (79-30%) HP:0002071
21 atherosclerosis 60 33 frequent (33%) Frequent (79-30%) HP:0002621
22 abnormality of the periventricular white matter 60 33 frequent (33%) Frequent (79-30%) HP:0002518
23 joint dislocation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001373
24 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
25 eeg abnormality 60 33 occasional (7.5%) Occasional (29-5%) HP:0002353
26 cerebral calcification 60 33 occasional (7.5%) Occasional (29-5%) HP:0002514
27 joint stiffness 60 33 occasional (7.5%) Occasional (29-5%) HP:0001387
28 malabsorption 60 33 occasional (7.5%) Occasional (29-5%) HP:0002024
29 cholestasis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001396
30 nephrolithiasis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000787
31 diarrhea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002014
32 ataxia 33 HP:0001251
33 respiratory insufficiency 33 HP:0002093
34 behavioral abnormality 60 Frequent (79-30%)
35 abnormality of the eye 60 Very frequent (99-80%)
36 osteoporosis 33 HP:0000939
37 cholelithiasis 33 HP:0001081
38 dementia 33 HP:0000726
39 optic disc pallor 33 HP:0000543
40 cerebellar atrophy 33 HP:0001272
41 abnormality of cholesterol metabolism 60 Frequent (79-30%)
42 cerebral atrophy 33 HP:0002059
43 xanthomatosis 60 Very frequent (99-80%)
44 delusions 33 HP:0000746
45 eeg with generalized slow activity 33 HP:0010845
46 pseudobulbar paralysis 33 HP:0007024
47 tendon xanthomatosis 33 HP:0010874
48 emg: axonal abnormality 33 HP:0003482
49 abnormality of the dentate nucleus 33 HP:0100321
50 tuberous xanthoma 33 HP:0031290

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
spasticity
dementia
pseudobulbar paralysis
cerebellar ataxia
mental retardation
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

UMLS symptoms related to Cerebrotendinous Xanthomatosis:


angina pectoris, muscle spasticity, cerebellar ataxia

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.02 FLNC HMGCR NR1H3 NR1H4 VCL

MGI Mouse Phenotypes related to Cerebrotendinous Xanthomatosis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.7 CYP27A1 CYP7A1 FLNC HMGCR NR1H3 NR1H4
2 cardiovascular system MP:0005385 9.65 CYP27A1 FLNC NR1H3 NR1H4 VCL
3 liver/biliary system MP:0005370 9.43 CYP27A1 CYP7A1 HMGCR NR1H3 NR1H4 NR1I2
4 mortality/aging MP:0010768 9.23 CYP7A1 FDX1 FLNC HMGCR NR1H3 NR1H4

Drugs & Therapeutics for Cerebrotendinous Xanthomatosis

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

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Calcium Approved, Nutraceutical Phase 2, Phase 3,Not Applicable 7440-70-2 271
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Not Applicable 1406-16-2
3
Ergocalciferol Approved, Nutraceutical Phase 2, Phase 3,Not Applicable 50-14-6 5280793
4
Vitamin D3 Approved, Nutraceutical Phase 2, Phase 3,Phase 3 67-97-0 5280795 6221
5 Micronutrients Phase 2, Phase 3,Not Applicable
6 Calciferol Phase 2, Phase 3,Not Applicable
7 Vitamins Phase 2, Phase 3,Not Applicable
8 Trace Elements Phase 2, Phase 3,Not Applicable
9 Nutrients Phase 2, Phase 3,Not Applicable
10 Hormones Phase 2, Phase 3,Not Applicable
11 Bone Density Conservation Agents Phase 2, Phase 3,Not Applicable
12 Calcium, Dietary Phase 2, Phase 3,Not Applicable
13 Vitamin D2 Phase 2, Phase 3,Not Applicable
14 Ergocalciferols Phase 2, Phase 3,Not Applicable
15
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
16
chenodeoxycholic acid Approved Phase 2,Not Applicable 474-25-9 10133
17 Gastrointestinal Agents Phase 2,Not Applicable
18 Laxatives Phase 2,Not Applicable
19 Lipid Regulating Agents Phase 2
20 Dihydromevinolin Phase 2
21 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
22 Antimetabolites Phase 2
23 Anticholesteremic Agents Phase 2
24 Cathartics Phase 2,Not Applicable
25 L 647318 Phase 2
26 Hypolipidemic Agents Phase 2
27
Calcifediol Approved, Nutraceutical Not Applicable 19356-17-3 5283731 6433735

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 Clinical Tests to Predict the Success of Assisted Reproductive Techniques Completed NCT02437578
6 Study of Gene Polymorphisms Involved in the Metabolism and Action of Vitamin D in Amyotrophic Lateral Sclerosis Completed NCT02893605
7 Cerebrotendinous Xanthomatosis (CTX) Prevalence Study Recruiting NCT02638220
8 The Prevalence of CTX Disorder in Juvenile Cataract Cases in Turkey Recruiting NCT03584893
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 30 CYP27A1

Anatomical Context for Cerebrotendinous Xanthomatosis

MalaCards organs/tissues related to Cerebrotendinous Xanthomatosis:

42
Brain, Bone, Lung, Heart, Eye, Spinal Cord, Testes

Publications for Cerebrotendinous Xanthomatosis

Articles related to Cerebrotendinous Xanthomatosis:

(show top 50) (show all 1804)
# Title Authors Year
1
Bacteriuria With CTX-M-8 Extended-Spectrum β-Lactamase-Producing Escherichia coli in a Patient With Incomplete Kawasaki Disease. ( 30671497 )
2019
2
Usefulness of brain magnetic resonance in the diagnosis of cerebrotendinous xanthomatosis. ( 29599059 )
2019
3
Cerebrotendinous xanthomatosis: The diagnostic challenge. ( 29980286 )
2019
4
Movement disorders in cerebrotendinous xanthomatosis. ( 30054180 )
2019
5
Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start. ( 30530799 )
2019
6
Diagnostic challenge: A case of late-onset spinal form cerebrotendinous xanthomatosis. ( 30804055 )
2019
7
Optic Neuropathy with Features Suggestive of Optic Neuritis in Cerebrotendinous Xanthomatosis. ( 30891321 )
2019
8
Elevated Bone Remodeling Markers of CTX and P1NP in Addition to Sclerostin in Patients with X-linked Hypophosphatemia: A Cross-Sectional Controlled Study. ( 30710161 )
2019
9
The levels of urine CTX-II, C2C, and PYD in children patients with Kashin-Beck disease in Qinghai Province of China. ( 30635000 )
2019
10
CTX-II and YKL-40 in early diagnosis and treatment evaluation of osteoarthritis. ( 30651816 )
2019
11
Value of pre-operative CTX serum levels in the prediction of medication-related osteonecrosis of the jaw (MRONJ): a retrospective clinical study. ( 30984311 )
2019
12
A dual-label time-resolved fluorescence immunoassay for screening of osteoporosis based on simultaneous detection of C-terminal telopeptide (β-CTX) and aminoterminal propeptide (P1NP) of type I procollagen. ( 30638079 )
2019
13
Emergence and molecular characterization of multidrug-resistant Klebsiella pneumoniae isolates harboring blaCTX-M-15 extended-spectrum β-lactamases causing ventilator-associated pneumonia in China. ( 30588046 )
2019
14
Comparison of several biomarkers (MMP-2, MMP-9, the MMP-9 inhibitor TIMP-1, CTX-II, calprotectin, and COMP) in the synovial fluid and serum of patients with and without septic arthritis. ( 29787810 )
2019
15
Genetic background of CTX-M-15-producing Enterobacter hormaechei ST114 and Citrobacter freundii ST265 co-infecting a free-living green turtle (Chelonia mydas). ( 30843359 )
2019
16
Emergence of Enterobacteriaceae co-producing CTX-M-15, ArmA and PMQR in Poland. ( 30499638 )
2019
17
CTX-M-15-producing uropathogenic Escherichia coli isolates at Rio de Janeiro, Brazil: Molecular epidemiology and MALDI-TOF MS. ( 31034080 )
2019
18
Monitoring the Disulfide Bonds of Folding Isomers of Synthetic CTX A3 Polypeptide Using MS-Based Technology. ( 30658470 )
2019
19
Imported infection by CTX-M-15 extended-spectrum beta-lactamase-producing Shigella sonnei. ( 29691072 )
2019
20
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 )
2019
21
Characterization of CTX-M type ESBL-producing Enterobacteriaceae isolated from asymptomatic healthy individuals who live in a community of the Okinawa prefecture, Japan. ( 30292768 )
2019
22
CTX-M-55-type ESBL-producing Salmonella enterica are emerging among retail meats in Phnom Penh, Cambodia. ( 30376113 )
2019
23
High Prevalence of Extended-Spectrum Beta-Lactamase CTX-M-Producing Escherichia coli in Small-Scale Poultry Farming in Rural Ecuador. ( 30457098 )
2019
24
Emergence and rapid global dissemination of CTX-M-15-associated Klebsiella pneumoniae strain ST307. ( 30517666 )
2019
25
Emergence of a multidrug-resistant hypervirulent Klebsiella pneumoniae of ST23 with a rare blaCTX-M-24-harboring virulence plasmid. ( 30602516 )
2019
26
Combination of ribosome display and next generation sequencing as a powerful method for identification of affibody binders against β-lactamase CTX-M15. ( 30634000 )
2019
27
Extended-spectrum β-lactamase-producing Enterobacteriaceae from animal origin and wastewater in Tunisia: first detection of O25b-B23-CTX-M-27-ST131 Escherichia coli and CTX-M-15/OXA-204-producing Citrobacter freundii from wastewater. ( 30639890 )
2019
28
Virulence and genomic features of a blaCTX-M-3 and blaCTX-M-14 coharboring hypermucoviscous Klebsiella pneumoniae of serotype K2 and ST65. ( 30655681 )
2019
29
Collateral sensitivity constrains resistance evolution of the CTX-M-15 β-lactamase. ( 30728359 )
2019
30
Comparison of BALP, CTX-I, and IL-4 levels around miniscrew implants during orthodontic tooth movement between two different amounts of force. ( 30730198 )
2019
31
The Clinical and Molecular Epidemiology of CTX-M-9 Group Producing Enterobacteriaceae Infections in Children. ( 30772921 )
2019
32
Detection of O25b-ST131 clone, CTX-M-1 and CTX-M-15 genes via real-time PCR in Escherichia coli strains in patients with UTIs obtained from a university hospital in Istanbul. ( 30826300 )
2019
33
High prevalence of CTX-M belonging to ST410 and ST889 among ESBL producing E. coli isolates from waterfowl birds in China's tropical island, Hainan. ( 30853356 )
2019
34
Draft genome sequence of a multidrug-resistant CTX-M-65-producing Escherichia coli ST156 colonizing a giant anteater (Myrmecophaga tridactyla) in a Zoo. ( 30877057 )
2019
35
High rates of CTX-M group-1 extended-spectrum β-lactamases producing Escherichia coli from pets and their owners in Faisalabad, Pakistan. ( 30881062 )
2019
36
IncX4 Plasmid Carrying the New mcr-1.9 Gene Variant in a CTX-M-8-Producing Escherichia coli Isolate Recovered From Swine. ( 30923516 )
2019
37
Evaluating Dissemination Mechanisms of Antibiotic-Resistant Bacteria in Rural Environments in China by Using CTX-M-Producing Escherichia coli as an Indicator. ( 30942653 )
2019
38
Diversity of CTX-M-positive Escherichia coli recovered from animals in Canada. ( 30955827 )
2019
39
Identification of CTX-M-15 and CTX-M-27 in Antibiotic-Resistant Gram-Negative Bacteria Isolated from Three Rivers Running in Central Italy. ( 30994417 )
2019
40
Predictive score and probability of CTX-like toxicity in fish samples from the official control of ciguatera in the Canary Islands. ( 30999098 )
2019
41
Wild owls colonized by international clones of extended-spectrum β-lactamase (CTX-M)-producing Escherichia coli and Salmonella Infantis in the Southern Cone of America. ( 31022545 )
2019
42
High prevalence of CTX-M-1 group in ESBL-producing enterobacteriaceae infection in intensive care units in southern Chile. ( 31028724 )
2019
43
Plasmid carrying blaCTX-M-2 and blaGES-1 in extensively drug-resistant Pseudomonas aeruginosa from cerebrospinal fluid. ( 31061147 )
2019
44
Community onset of CTX-M extended spectrum β-lactamases among uropathogenic E. coli and K. pneumoniae from Karachi, Pakistan. ( 31081764 )
2019
45
Emergence and dominance of E. coli ST131 CTX-M-27 in a community paediatric cohort study: independent host factors and bacterial genetic determinants. ( 31085515 )
2019
46
IncI1 ST3 and IncI1 ST7 plasmids from CTX-M-1-producing Escherichia coli obtained from patients with bloodstream infections are closely related to plasmids from E. coli of animal origin. ( 31089683 )
2019
47
Failure of Ciprofloxacin Therapy in the Treatment of Community-Acquired Acute Pyelonephritis caused by In-Vitro Susceptible Escherichia coli Strain Producing CTX-Type Extended-Spectrum β-Lactamase. ( 30600660 )
2018
48
Prominent Tendon Xanthomas and Abdominal Aortic Aneurysm Associated with Cerebrotendinous Xanthomatosis Identified Using Whole Exome Sequencing. ( 29269672 )
2018
49
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
50
Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis. ( 28894950 )
2018

Variations for Cerebrotendinous Xanthomatosis

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

76
# 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 269)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP27A1 NM_000784.3(CYP27A1): c.1435C> T (p.Arg479Cys) single nucleotide variant Pathogenic/Likely pathogenic rs72551322 GRCh37 Chromosome 2, 219679439: 219679439
2 CYP27A1 NM_000784.3(CYP27A1): c.1435C> T (p.Arg479Cys) single nucleotide variant Pathogenic/Likely pathogenic rs72551322 GRCh38 Chromosome 2, 218814716: 218814716
3 CYP27A1 NM_000784.4(CYP27A1): c.1183C> T (p.Arg395Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121908096 GRCh37 Chromosome 2, 219678909: 219678909
4 CYP27A1 NM_000784.4(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 Pathogenic/Likely pathogenic rs397515356 GRCh37 Chromosome 2, 219677746: 219677750
22 CYP27A1 NM_000784.3(CYP27A1): c.944_948delTGGCC (p.Leu315Glnfs) deletion Pathogenic/Likely pathogenic rs397515356 GRCh38 Chromosome 2, 218813023: 218813027
23 CYP27A1 NM_000784.3(CYP27A1): c.1016C> T (p.Thr339Met) single nucleotide variant Pathogenic/Likely pathogenic rs121908102 GRCh37 Chromosome 2, 219677818: 219677818
24 CYP27A1 NM_000784.3(CYP27A1): c.1016C> T (p.Thr339Met) single nucleotide variant Pathogenic/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.888A> G (p.Gln296=) single nucleotide variant Benign rs61733619 GRCh38 Chromosome 2, 218812967: 218812967
28 CYP27A1 NM_000784.3(CYP27A1): c.1374C> A (p.Pro458=) single nucleotide variant Benign rs55998945 GRCh37 Chromosome 2, 219679378: 219679378
29 CYP27A1 NM_000784.3(CYP27A1): c.1374C> A (p.Pro458=) single nucleotide variant Benign rs55998945 GRCh38 Chromosome 2, 218814655: 218814655
30 CYP27A1 NM_000784.3(CYP27A1): c.243G> A (p.Leu81=) single nucleotide variant Benign rs75897848 GRCh37 Chromosome 2, 219647148: 219647148
31 CYP27A1 NM_000784.3(CYP27A1): c.243G> A (p.Leu81=) single nucleotide variant Benign rs75897848 GRCh38 Chromosome 2, 218782425: 218782425
32 CYP27A1 NM_000784.3(CYP27A1): c.882G> A (p.Glu294=) single nucleotide variant Likely benign rs59428328 GRCh37 Chromosome 2, 219677684: 219677684
33 CYP27A1 NM_000784.3(CYP27A1): c.882G> A (p.Glu294=) single nucleotide variant Likely benign rs59428328 GRCh38 Chromosome 2, 218812961: 218812961
34 CYP27A1 NM_000784.3(CYP27A1): c.888A> G (p.Gln296=) single nucleotide variant Benign rs61733619 GRCh37 Chromosome 2, 219677690: 219677690
35 CYP27A1 NM_000784.3(CYP27A1): c.1017G> C (p.Thr339=) single nucleotide variant Pathogenic rs200553205 GRCh37 Chromosome 2, 219677819: 219677819
36 CYP27A1 NM_000784.3(CYP27A1): c.1017G> C (p.Thr339=) single nucleotide variant Pathogenic rs200553205 GRCh38 Chromosome 2, 218813096: 218813096
37 CYP27A1 NM_000784.3(CYP27A1): c.1061A> G (p.Asp354Gly) single nucleotide variant Pathogenic rs72551320 GRCh37 Chromosome 2, 219678787: 219678787
38 CYP27A1 NM_000784.3(CYP27A1): c.1061A> G (p.Asp354Gly) single nucleotide variant Pathogenic rs72551320 GRCh38 Chromosome 2, 218814064: 218814064
39 NM_000784.3: c.10_11 ins10bp insertion Pathogenic
40 NM_000784.3: c.1146_1151delins insertion Pathogenic
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 NM_000784.3: c.1180-1181delCT deletion Pathogenic
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_000784.4(CYP27A1): c.1185-1G> T single nucleotide variant Pathogenic rs587778779 GRCh37 Chromosome 2, 219679102: 219679102
49 CYP27A1 NM_000784.4(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:

38
# 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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.81 CYP27A1 CYP7A1 FDX1 NR1H4
2
Show member pathways
11.88 CYP27A1 CYP7A1 NR1H4
3
Show member pathways
11.62 CYP27A1 CYP7A1 HMGCR
4
Show member pathways
11.45 NR1H3 NR1H4 NR1I2
5 11.3 CYP27A1 CYP7A1 NR1H3
6 11.19 CYP7A1 HMGCR NR1H4
7 11.05 HMGCR NR1I2
8 10.89 CYP7A1 NR1H3
9 10.71 CYP7A1 NR1H4
10 10.68 HMGCR NR1H3
11 10.47 CYP7A1 NR1H3 NR1H4 NR1I2
12 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 costamere GO:0043034 8.96 FLNC VCL
2 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 14)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.81 CYP27A1 CYP7A1 FDX1 HMGCR
2 lipid metabolic process GO:0006629 9.65 CYP7A1 FDX1 HMGCR NR1H3 NR1H4
3 transcription initiation from RNA polymerase II promoter GO:0006367 9.63 NR1H3 NR1H4 NR1I2
4 cholesterol homeostasis GO:0042632 9.61 CYP7A1 NR1H3 NR1H4
5 cholesterol metabolic process GO:0008203 9.58 CYP7A1 FDX1 HMGCR
6 steroid biosynthetic process GO:0006694 9.54 FDX1 HMGCR
7 lipid homeostasis GO:0055088 9.52 NR1H3 NR1H4
8 steroid hormone mediated signaling pathway GO:0043401 9.5 NR1H3 NR1H4 NR1I2
9 triglyceride homeostasis GO:0070328 9.49 NR1H3 NR1H4
10 bile acid biosynthetic process GO:0006699 9.48 CYP27A1 CYP7A1
11 regulation of bile acid biosynthetic process GO:0070857 9.37 CYP7A1 NR1H4
12 intracellular receptor signaling pathway GO:0030522 9.33 NR1H3 NR1H4 NR1I2
13 sterol metabolic process GO:0016125 9.13 CYP27A1 CYP7A1 FDX1
14 steroid metabolic process GO:0008202 8.92 CYP7A1 FDX1 HMGCR NR1I2

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

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.63 NR1H3 NR1H4 NR1I2
2 transcription coactivator activity GO:0003713 9.61 NR1H3 NR1H4 NR1I2
3 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.58 NR1H3 NR1H4 NR1I2
4 signaling receptor activity GO:0038023 9.54 NR1H3 NR1H4 NR1I2
5 iron ion binding GO:0005506 9.5 CYP27A1 CYP7A1 FDX1
6 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.48 CYP27A1 CYP7A1
7 transcription regulatory region sequence-specific DNA binding GO:0000976 9.43 NR1H3 NR1H4 NR1I2
8 nuclear receptor transcription coactivator activity GO:0030374 9.33 NR1H3 NR1H4 NR1I2
9 steroid hormone receptor activity GO:0003707 9.13 NR1H3 NR1H4 NR1I2
10 nuclear receptor activity GO:0004879 8.8 NR1H3 NR1H4 NR1I2

Sources for Cerebrotendinous Xanthomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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