MCID: CRB011
MIFTS: 62

Cerebrotendinous Xanthomatosis

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

Aliases & Classifications for Cerebrotendinous Xanthomatosis

MalaCards integrated aliases for Cerebrotendinous Xanthomatosis:

Name: Cerebrotendinous Xanthomatosis 54 12 23 50 24 25 56 71 13 14
Ctx 50 24 25 56 71
Cerebral Cholesterinosis 50 24 25 71
Cholestanol Storage Disease 12 25 29
Sterol 27-Hydroxylase Deficiency 50 56
Xanthomatosis, Cerebrotendinous 42 69
Van Bogaert-Scherer-Epstein Disease 25
Cerebrotendinous Cholesterinosis 25
Xanthomatosis Cerebrotendinous 52
Cholestanolosis 25

Characteristics:

Orphanet epidemiological data:

56
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:

54
Inheritance:
autosomal recessive


HPO:

32
cerebrotendinous xanthomatosis:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cerebrotendinous Xanthomatosis

OMIM : 54
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 sitosterolemia and leukodystrophy, and has symptoms including dystonia, myoclonus and diarrhea. An important gene associated with Cerebrotendinous Xanthomatosis is CYP27A1 (Cytochrome P450 Family 27 Subfamily A Member 1), and among its related pathways/superpathways are Metabolism and Cytochrome P450 - arranged by substrate type. The drugs Cholecalciferol and Ergocalciferol have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and lung, and related phenotypes are cardiovascular system and homeostasis/metabolism

NIH Rare Diseases : 50 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. last updated: 8/23/2017

UniProtKB/Swiss-Prot : 71 Cerebrotendinous xanthomatosis: Rare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts.

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).

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.

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 59)
id Related Disease Score Top Affiliating Genes
1 sitosterolemia 29.3 CYP27A1 CYP7A1 HMGCR
2 leukodystrophy 11.5
3 xanthomatosis 11.1
4 congenital toxoplasmosis 11.0
5 cataract 10.3
6 pneumonia 10.2
7 neuropathy 10.2
8 ataxia 10.2
9 polyneuropathy 10.1
10 osteoporosis 10.1
11 dementia 10.1
12 diarrhea 10.1
13 epilepsy 10.0
14 cerebritis 10.0
15 dystonia 10.0
16 hepatitis 10.0
17 coronary artery disease 10.0
18 artery disease 10.0
19 oromandibular dystonia 10.0
20 lipid storage disease 10.0
21 bone fracture 10.0
22 dermatomyositis 9.9 CYP7A1 NR1H4
23 keratosis pilaris atrophicans 9.8 CYP27A1 CYP27B1 FDX1
24 liver disease 9.8
25 autonomic dysfunction 9.8
26 myocardial infarction 9.8
27 nephrolithiasis 9.8
28 myoclonus 9.8
29 thrombocytopenia 9.8
30 cerebellar disease 9.8
31 spasticity 9.8
32 gallbladder cancer 9.8
33 cerebellar ataxia 9.8
34 autism spectrum disorder 9.8
35 histiocytosis 9.8
36 lymphangioleiomyomatosis 9.8
37 tabes dorsalis 9.8
38 smith-lemli-opitz syndrome 9.8
39 myopathy 9.8
40 vitamin d-dependent rickets, type i 9.8
41 rickets 9.8
42 blepharospasm 9.8
43 marfan syndrome 9.8
44 heart disease 9.8
45 tendinitis 9.8
46 parametritis 9.8
47 acute myocardial infarction 9.8
48 nephrocalcinosis 9.8
49 atherosclerosis 9.8
50 intellectual disability 9.8

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:

54

Neurologic- Central Nervous System:
mental retardation
spasticity
cerebellar ataxia
dementia
spinal cord paresis
more
Skeletal:
osteoporosis

Skin Nails & Hair- Skin:
xanthelasma
tuberous xanthoma

Cardiovascular- Heart:
angina
myocardial infarction

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

Neurologic- Peripheral Nervous System:
peripheral neuropathy

Respiratory- Lung:
respiratory insufficiency

Head And Neck- Eyes:
juvenile cataracts

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:

56 32 (show all 50)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dystonia 56 32 frequent (33%) Frequent (79-30%) HP:0001332
2 myoclonus 56 32 hallmark (90%) Very frequent (99-80%) HP:0001336
3 diarrhea 56 32 occasional (7.5%) Occasional (29-5%) HP:0002014
4 tremor 56 32 frequent (33%) Frequent (79-30%) HP:0001337
5 hypercholesterolemia 56 32 frequent (33%) Frequent (79-30%) HP:0003124
6 nephrolithiasis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000787
7 hyperreflexia 56 32 frequent (33%) Frequent (79-30%) HP:0001347
8 spasticity 56 32 frequent (33%) Frequent (79-30%) HP:0001257
9 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
10 peripheral neuropathy 56 32 frequent (33%) Frequent (79-30%) HP:0009830
11 muscle weakness 56 32 frequent (33%) Frequent (79-30%) HP:0001324
12 depression 56 32 frequent (33%) Frequent (79-30%) HP:0000716
13 hallucinations 56 32 frequent (33%) Frequent (79-30%) HP:0000738
14 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
15 cataract 56 32 hallmark (90%) Very frequent (99-80%) HP:0000518
16 malabsorption 56 32 occasional (7.5%) Occasional (29-5%) HP:0002024
17 joint stiffness 56 32 occasional (7.5%) Occasional (29-5%) HP:0001387
18 cholestasis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001396
19 xanthelasma 56 32 hallmark (90%) Very frequent (99-80%) HP:0001114
20 developmental regression 56 32 frequent (33%) Frequent (79-30%) HP:0002376
21 myocardial infarction 56 32 frequent (33%) Frequent (79-30%) HP:0001658
22 cerebral calcification 56 32 occasional (7.5%) Occasional (29-5%) HP:0002514
23 joint dislocation 56 32 occasional (7.5%) Occasional (29-5%) HP:0001373
24 angina pectoris 56 32 frequent (33%) Frequent (79-30%) HP:0001681
25 neurological speech impairment 56 32 frequent (33%) Frequent (79-30%) HP:0002167
26 eeg abnormality 56 32 occasional (7.5%) Occasional (29-5%) HP:0002353
27 abnormal pyramidal signs 56 32 frequent (33%) Frequent (79-30%) HP:0007256
28 abnormality of vision 56 32 hallmark (90%) Very frequent (99-80%) HP:0000504
29 abnormality of extrapyramidal motor function 56 32 frequent (33%) Frequent (79-30%) HP:0002071
30 abnormality of cholesterol metabolism 56 32 Frequent (79-30%) HP:0003107
31 abnormality of the periventricular white matter 56 32 frequent (33%) Frequent (79-30%) HP:0002518
32 ataxia 32 HP:0001251
33 cerebral atrophy 32 HP:0002059
34 delusions 32 HP:0000746
35 osteoporosis 32 HP:0000939
36 optic disc pallor 32 HP:0000543
37 cerebellar atrophy 32 HP:0001272
38 cholelithiasis 32 HP:0001081
39 atherosclerosis 56 Frequent (79-30%)
40 respiratory insufficiency 32 HP:0002093
41 dementia 32 HP:0000726
42 pseudobulbar paralysis 32 HP:0007024
43 behavioral abnormality 56 Frequent (79-30%)
44 abnormality of the eye 56 Very frequent (99-80%)
45 xanthomatosis 56 Very frequent (99-80%)
46 eeg with generalized slow activity 32 HP:0010845
47 tendon xanthomatosis 32 HP:0010874
48 abnormality of the dentate nucleus 32 HP:0100321
49 emg 32 HP:0003482
50 abnormality of central somatosensory evoked potentials 32 HP:0100291

UMLS symptoms related to Cerebrotendinous Xanthomatosis:


angina pectoris, cerebellar ataxia, muscle spasticity

MGI Mouse Phenotypes related to Cerebrotendinous Xanthomatosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.73 VCL CYP27A1 CYP27B1 FDX1 NR1H3 NR1H4
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)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cholecalciferol Approved, Nutraceutical Phase 2, Phase 3 67-97-0 6221 10883523 5280795
2
Ergocalciferol Approved, Nutraceutical Phase 2, Phase 3 50-14-6 5280793
3
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 1406-16-2
4 Bone Density Conservation Agents Phase 2, Phase 3
5 Calcium, Dietary Phase 2, Phase 3
6 Ergocalciferols Phase 2, Phase 3
7 Hormones Phase 2, Phase 3
8 Micronutrients Phase 2, Phase 3
9 Trace Elements Phase 2, Phase 3
10 Vitamins Phase 2, Phase 3
11 Calciferol Nutraceutical Phase 2, Phase 3
12 Vitamin D2 Nutraceutical Phase 2, Phase 3
13
chenodeoxycholic acid Approved Phase 2 474-25-9 10133
14
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
15 Anticholesteremic Agents Phase 2
16 Antimetabolites Phase 2
17 Cathartics Phase 2
18 Dihydromevinolin Phase 2
19 Gastrointestinal Agents Phase 2
20 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
21 Hypolipidemic Agents Phase 2
22 L 647318 Phase 2
23 Laxatives Phase 2
24 Lipid Regulating Agents Phase 2
25 Calcifediol 19356-17-3

Interventional clinical trials:


id 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
5 Cerebrotendinous Xanthomatosis (CTX) Prevalence Study Recruiting NCT02638220
6 Clinical Tests to Predict the Success of Assisted Reproductive Techniques Recruiting NCT02437578
7 Cholestanol in Humans Withdrawn NCT00018694 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:

id Genetic test Affiliating Genes
1 Cholestanol Storage Disease 29
2 Cerebrotendinous Xanthomatosis 24 CYP27A1

Anatomical Context for Cerebrotendinous Xanthomatosis

MalaCards organs/tissues related to Cerebrotendinous Xanthomatosis:

39
Brain, Bone, Lung, Eye, Heart, Spinal Cord, Testes

Publications for Cerebrotendinous Xanthomatosis

Articles related to Cerebrotendinous Xanthomatosis:

(show top 50) (show all 410)
id Title Authors Year
1
Teaching NeuroImages: Early-onset dementia and demyelinating neuropathy disclosing cerebrotendinous xanthomatosis. ( 28894038 )
2017
2
A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract. ( 28229379 )
2017
3
The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression. ( 28324197 )
2017
4
The role of dentate nuclei in human oculomotor control: insights from cerebrotendinous xanthomatosis. ( 28168705 )
2017
5
Sonographic Findings of Polyneuropathy Associated With Cerebrotendinous Xanthomatosis: A Case Report. ( 28503466 )
2017
6
A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios. ( 28314860 )
2017
7
Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment. ( 28590052 )
2017
8
Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis. ( 28894950 )
2017
9
Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis: Genetics, Immunostaining, Mass Spectrometry. ( 28937538 )
2017
10
Cerebellar Disease Mimicking Cerebrotendinous Xanthomatosis: Langerhans Cell Histiocytosis. ( 28554492 )
2017
11
Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families. ( 28623566 )
2017
12
Case 239: Cerebrotendinous Xanthomatosis. ( 28218883 )
2017
13
Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability. ( 27858369 )
2016
14
Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series. ( 27888347 )
2016
15
Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method. ( 27331003 )
2016
16
Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report. ( 27094915 )
2016
17
Induced pluripotent stem cells (iPSCs) derived from cerebrotendinous xanthomatosis (CTX) patient's fibroblasts carrying a R395S mutation. ( 27879219 )
2016
18
A case of cerebrotendinous xanthomatosis mimicking the clinical phenotype of mitochondrial disease with a novel frame-shift mutation (c. 43_44 delGG) in CYP27A1 gene exon 1. ( 27680221 )
2016
19
Cerebrotendinous xanthomatosis; a genetic condition: Clinical profile of three patients from a rural Indian family and review of literature. ( 27182150 )
2016
20
Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood. ( 27084087 )
2016
21
Cerebrotendinous xanthomatosis and Marfan syndrome - A picturesque combination. ( 27625283 )
2016
22
Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports. ( 27225395 )
2016
23
The wide spectrum of cerebrotendinous xanthomatosis: Case report of a rare but treatable disease. ( 26874936 )
2016
24
Cerebrotendinous Xanthomatosis: A Treatable Genetic Disease Not to Be Missed. ( 26906304 )
2016
25
Pathophysiology of cerebrotendinous xanthomatosis. ( 27840382 )
2016
26
Cerebrotendinous Xanthomatosis Without Skin Changes: Diagnostic Delay and Confirmation by Genetic Analysis. ( 27771677 )
2016
27
Cerebrotendinous xanthomatosis. ( 27559524 )
2016
28
Enlarging brain xanthomas in a patient with cerebrotendinous xanthomatosis. ( 25567502 )
2015
29
Spinal form cerebrotendinous xanthomatosis patient with long spinal cord lesion. ( 25941960 )
2015
30
Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes. ( 26643207 )
2015
31
Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment. ( 26156051 )
2015
32
Cholestane-3I^,5I+,6I^-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency. ( 26239048 )
2015
33
Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis. ( 25983621 )
2015
34
Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report. ( 26519892 )
2015
35
Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population. ( 26937392 )
2015
36
Novel cerebrotendinous xanthomatosis mutation causes familial early dementia in Colombia. ( 26844446 )
2015
37
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis. ( 26153518 )
2015
38
A useful multi-analyte blood test for cerebrotendinous xanthomatosis. ( 24769274 )
2014
39
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management. ( 25424010 )
2014
40
Screening for cerebrotendinous xanthomatosis. ( 25234588 )
2014
41
Long-term follow-up on the effect of combined therapy of bile acids and statins in the treatment of cerebrotendinous xanthomatosis: a case report. ( 24529221 )
2014
42
A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. ( 24442603 )
2014
43
A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns. ( 24186955 )
2014
44
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia. ( 24584636 )
2014
45
Clinical and radiological findings of a cerebrotendinous xanthomatosis patient with a novel p.A335V mutation in the CYP27A1 gene. ( 25447658 )
2014
46
Cerebrotendinous xanthomatosis: the effectiveness of high-dose piracetam for the treatment of cerebellar and sensorial ataxia. ( 25084753 )
2014
47
Cerebrotendinous xanthomatosis: an early diagnosis by biochemical tests. ( 24553972 )
2014
48
Long-term bone density evaluation in cerebrotendinous xanthomatosis: evidence of improvement after chenodeoxycholic acid treatment. ( 23212544 )
2013
49
Cerebrotendinous xanthomatosis. ( 23682184 )
2013
50
Cerebrotendinous xanthomatosis. ( 23759795 )
2013

Variations for Cerebrotendinous Xanthomatosis

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

71
id 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 63)
id Gene Variation Type Significance SNP ID Assembly Location
1 CYP27A1 NM_000784.3(CYP27A1): c.1435C> T (p.Arg479Cys) single nucleotide variant Pathogenic rs72551322 GRCh37 Chromosome 2, 219679439: 219679439
2 CYP27A1 NM_000784.3(CYP27A1): c.1183C> T (p.Arg395Cys) single nucleotide variant Pathogenic rs121908096 GRCh37 Chromosome 2, 219678909: 219678909
3 CYP27A1 NM_000784.3(CYP27A1): c.845-1G> A single nucleotide variant Pathogenic rs397515353 GRCh37 Chromosome 2, 219677646: 219677646
4 CYP27A1 NM_000784.3(CYP27A1): c.844+1G> A single nucleotide variant Pathogenic rs397515354 GRCh37 Chromosome 2, 219677473: 219677473
5 CYP27A1 NM_000784.3(CYP27A1): c.1421G> A (p.Arg474Gln) single nucleotide variant Pathogenic rs121908097 GRCh37 Chromosome 2, 219679425: 219679425
6 CYP27A1 NM_000784.3(CYP27A1): c.1420C> T (p.Arg474Trp) single nucleotide variant Pathogenic rs121908098 GRCh37 Chromosome 2, 219679424: 219679424
7 CYP27A1 NM_000784.3(CYP27A1): c.1214G> A (p.Arg405Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121908099 GRCh37 Chromosome 2, 219679132: 219679132
8 CYP27A1 NM_000784.3(CYP27A1): c.1183C> A (p.Arg395Ser) single nucleotide variant Pathogenic rs121908096 GRCh37 Chromosome 2, 219678909: 219678909
9 CYP27A1 NM_000784.3(CYP27A1): c.1263+1G> A single nucleotide variant Pathogenic rs397515355 GRCh37 Chromosome 2, 219679182: 219679182
10 CYP27A1 NM_000784.3(CYP27A1): c.434G> A (p.Gly145Glu) single nucleotide variant Pathogenic rs72551313 GRCh37 Chromosome 2, 219674478: 219674478
11 CYP27A1 NM_000784.3(CYP27A1): c.944_948delTGGCC (p.Leu315Glnfs) deletion Pathogenic rs397515356 GRCh37 Chromosome 2, 219677746: 219677750
12 CYP27A1 NM_000784.3(CYP27A1): c.1016C> T (p.Thr339Met) single nucleotide variant Pathogenic/Likely pathogenic rs121908102 GRCh37 Chromosome 2, 219677818: 219677818
13 CYP27A1 NM_000784.3(CYP27A1): c.1435C> G (p.Arg479Gly) single nucleotide variant Pathogenic rs72551322 GRCh37 Chromosome 2, 219679439: 219679439
14 CYP27A1 NM_000784.3(CYP27A1): c.1017G> C (p.Thr339=) single nucleotide variant Pathogenic rs200553205 GRCh37 Chromosome 2, 219677819: 219677819
15 CYP27A1 NM_000784.3(CYP27A1): c.1061A> G (p.Asp354Gly) single nucleotide variant Pathogenic rs72551320 GRCh37 Chromosome 2, 219678787: 219678787
16 NM_000784.3: c.10_11 ins10bp insertion Pathogenic
17 NM_000784.3: c.1146_1151delins insertion Pathogenic
18 NM_000784.3: c.1180-1181delCT deletion Pathogenic
19 CYP27A1 NM_000784.3(CYP27A1): c.1184+1G> A single nucleotide variant Pathogenic rs587778777 GRCh37 Chromosome 2, 219678911: 219678911
20 CYP27A1 NM_000784.3(CYP27A1): c.1184G> A (p.Arg395His) single nucleotide variant Pathogenic rs587778778 GRCh37 Chromosome 2, 219678910: 219678910
21 CYP27A1 NM_000784.3(CYP27A1): c.1185-1G> T single nucleotide variant Pathogenic rs587778779 GRCh37 Chromosome 2, 219679102: 219679102
22 CYP27A1 NM_000784.3(CYP27A1): c.1202C> G (p.Pro401Arg) single nucleotide variant Pathogenic rs587778780 GRCh37 Chromosome 2, 219679120: 219679120
23 CYP27A1 NM_000784.3(CYP27A1): c.1209C> G (p.Asn403Lys) single nucleotide variant Pathogenic rs587778781 GRCh37 Chromosome 2, 219679127: 219679127
24 CYP27A1 NM_000784.3(CYP27A1): c.1213C> T (p.Arg405Trp) single nucleotide variant Pathogenic rs573951598 GRCh37 Chromosome 2, 219679131: 219679131
25 CYP27A1 NM_000784.3(CYP27A1): c.1222G> T (p.Glu408Ter) single nucleotide variant Pathogenic rs587778782 GRCh37 Chromosome 2, 219679140: 219679140
26 CYP27A1 NM_000784.3(CYP27A1): c.1238T> A (p.Val413Asp) single nucleotide variant Pathogenic rs587778783 GRCh37 Chromosome 2, 219679156: 219679156
27 CYP27A1 NM_000784.3(CYP27A1): c.1263+5G> T single nucleotide variant Pathogenic rs587778784 GRCh37 Chromosome 2, 219679186: 219679186
28 NM_000784.3: c.1263+81_1596+?del deletion Pathogenic
29 CYP27A1 NM_000784.3(CYP27A1): c.1264-1G> A single nucleotide variant Pathogenic rs587778785 GRCh37 Chromosome 2, 219679267: 219679267
30 NM_000784.3: c.1323C> T single nucleotide variant Pathogenic
31 NM_000784.3: c.1330-1333delTTCC deletion Pathogenic
32 CYP27A1 NM_000784.3(CYP27A1): c.1402C> T (p.Pro468Ser) single nucleotide variant Pathogenic rs587778787 GRCh37 Chromosome 2, 219679406: 219679406
33 CYP27A1 NM_000784.3(CYP27A1): c.1415G> C (p.Gly472Ala) single nucleotide variant Pathogenic rs200883871 GRCh37 Chromosome 2, 219679419: 219679419
34 CYP27A1 NM_000784.3(CYP27A1): c.305delC (p.Pro102Leufs) deletion Pathogenic rs587778790 GRCh37 Chromosome 2, 219674349: 219674349
35 CYP27A1 NM_000784.3(CYP27A1): c.355delC (p.Arg119Glyfs) deletion Pathogenic rs587778793 GRCh37 Chromosome 2, 219674399: 219674399
36 CYP27A1 NM_000784.3(CYP27A1): c.369_375delGTACCCA (p.Pro125Glyfs) deletion Pathogenic rs587778794 GRCh37 Chromosome 2, 219674413: 219674419
37 CYP27A1 NM_000784.3(CYP27A1): c.379C> T (p.Arg127Trp) single nucleotide variant Pathogenic rs201114717 GRCh37 Chromosome 2, 219674423: 219674423
38 CYP27A1 NM_000784.3(CYP27A1): c.380G> A (p.Arg127Gln) single nucleotide variant Pathogenic rs376230356 GRCh37 Chromosome 2, 219674424: 219674424
39 CYP27A1 NM_000784.3(CYP27A1): c.409C> T (p.Arg137Trp) single nucleotide variant Pathogenic rs72551312 GRCh37 Chromosome 2, 219674453: 219674453
40 CYP27A1 NM_000784.3(CYP27A1): c.433G> A (p.Gly145Arg) single nucleotide variant Pathogenic rs587778795 GRCh37 Chromosome 2, 219674477: 219674477
41 CYP27A1 NM_000784.3(CYP27A1): c.435G> T (p.Gly145=) single nucleotide variant Pathogenic/Likely pathogenic rs587778796 GRCh37 Chromosome 2, 219674479: 219674479
42 CYP27A1 NM_000784.3(CYP27A1): c.446+1G> A single nucleotide variant Pathogenic rs587778797 GRCh37 Chromosome 2, 219674491: 219674491
43 CYP27A1 NM_000784.3(CYP27A1): c.475C> T (p.Gln159Ter) single nucleotide variant Pathogenic/Likely pathogenic rs72551314 GRCh37 Chromosome 2, 219676973: 219676973
44 NM_000784.3: c.525-526delG deletion Pathogenic
45 CYP27A1 NM_000784.3(CYP27A1): c.583G> T (p.Glu195Ter) single nucleotide variant Pathogenic rs587778800 GRCh37 Chromosome 2, 219677081: 219677081
46 NM_000784.3: c.599C> T single nucleotide variant Pathogenic
47 CYP27A1 NM_000784.3(CYP27A1): c.5_6insC (p.Ala3Cysfs) insertion Pathogenic rs587778802 GRCh37 Chromosome 2, 219646910: 219646910
48 CYP27A1 NM_000784.3(CYP27A1): c.646G> C (p.Ala216Pro) single nucleotide variant Pathogenic rs201346271 GRCh37 Chromosome 2, 219677144: 219677144
49 CYP27A1 NM_000784.3(CYP27A1): c.647-1G> T single nucleotide variant Pathogenic rs587778804 GRCh37 Chromosome 2, 219677274: 219677274
50 CYP27A1 NM_000784.3(CYP27A1): c.691C> T (p.Arg231Ter) single nucleotide variant Pathogenic rs72551315 GRCh37 Chromosome 2, 219677319: 219677319

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 GeneCards Suite gene sharing:

(show all 14)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.7 CYP27A1 CYP27B1 CYP7A1 FDX1 HMGCR NR1H3
2
Show member pathways
12.81 CYP27A1 CYP27B1 CYP7A1 FDX1 NR1H4
3
Show member pathways
11.9 CYP27A1 CYP7A1 NR1H4
4
Show member pathways
11.45 NR1H3 NR1H4 NR1I2
5
Show member pathways
11.37 CYP7A1 HMGCR
6 11.29 CYP27A1 CYP7A1 NR1H3
7 11.18 CYP7A1 HMGCR NR1H4
8 11.07 HMGCR NR1I2
9 10.91 CYP7A1 NR1H3
10 10.74 CYP7A1 NR1H4
11 10.71 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

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.77 CYP27A1 CYP27B1 CYP7A1 FDX1 HMGCR
2 transcription initiation from RNA polymerase II promoter GO:0006367 9.63 NR1H3 NR1H4 NR1I2
3 cholesterol metabolic process GO:0008203 9.58 CYP7A1 FDX1 HMGCR
4 cholesterol homeostasis GO:0042632 9.52 CYP7A1 NR1H3
5 steroid biosynthetic process GO:0006694 9.51 FDX1 HMGCR
6 steroid hormone mediated signaling pathway GO:0043401 9.5 NR1H3 NR1H4 NR1I2
7 bile acid biosynthetic process GO:0006699 9.49 CYP27A1 CYP7A1
8 triglyceride homeostasis GO:0070328 9.48 NR1H3 NR1H4
9 regulation of cholesterol homeostasis GO:2000188 9.43 NR1H3 NR1H4
10 intracellular receptor signaling pathway GO:0030522 9.33 NR1H3 NR1H4 NR1I2
11 regulation of bile acid biosynthetic process GO:0070857 9.26 CYP7A1 NR1H4
12 sterol metabolic process GO:0016125 9.13 CYP27A1 CYP7A1 FDX1
13 steroid metabolic process GO:0008202 8.92 CYP7A1 FDX1 HMGCR NR1I2

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

id Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.98 CYP27A1 CYP27B1 CYP7A1 FDX1 NR1H3 NR1H4
2 oxidoreductase activity GO:0016491 9.71 CYP27A1 CYP27B1 CYP7A1 HMGCR
3 transcription coactivator activity GO:0003713 9.63 NR1H3 NR1H4 NR1I2
4 heme binding GO:0020037 9.54 CYP27A1 CYP27B1 CYP7A1
5 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.43 CYP27A1 CYP27B1 CYP7A1
6 steroid hormone receptor activity GO:0003707 9.33 NR1H3 NR1H4 NR1I2
7 thyroid hormone receptor activity GO:0004887 9.32 NR1H4 NR1I2
8 RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding GO:0004879 9.13 NR1H3 NR1H4 NR1I2
9 iron ion binding GO:0005506 8.92 CYP27A1 CYP27B1 CYP7A1 FDX1

Sources for Cerebrotendinous Xanthomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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