CTX
MCID: CRB011
MIFTS: 61

Cerebrotendinous Xanthomatosis (CTX) malady

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

Aliases & Classifications for Cerebrotendinous Xanthomatosis

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Cerebrotendinous Xanthomatosis:

Name: Cerebrotendinous Xanthomatosis 52 11 23 48 24 25 54 70 12 13
Ctx 48 24 25 54 70
Cerebral Cholesterinosis 48 24 25 70
Cholestanol Storage Disease 11 25 27
Sterol 27-Hydroxylase Deficiency 48 54
 
Xanthomatosis, Cerebrotendinous 39 68
Van Bogaert-Scherer-Epstein Disease 25
Cerebrotendinous Cholesterinosis 25
Xanthomatosis Cerebrotendinous 50
Cholestanolosis 25

Characteristics:

Orphanet epidemiological data:

54
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

HPO:

64
cerebrotendinous xanthomatosis:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 213700
Disease Ontology11 DOID:4810
MeSH39 D019294
NCIt45 C84628
Orphanet54 ORPHA909
SNOMED-CT62 63246000
MESH via Orphanet40 D019294
UMLS via Orphanet69 C0238052
ICD10 via Orphanet31 E75.5
MedGen37 C0238052

Summaries for Cerebrotendinous Xanthomatosis

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OMIM:52 Cerebrotendinous xanthomatosis is a rare inherited lipid-storage disease characterized clinically by progressive... (213700) more...

MalaCards based summary: Cerebrotendinous Xanthomatosis, also known as CTX, is related to leukodystrophy and xanthomatosis, and has symptoms including angina pectoris, angina pectoris 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 are Metformin Pathway, Pharmacodynamics and Vitamin D Metabolism. Affiliated tissues include brain, bone and lung, and related mouse phenotypes are liver/biliary system and cardiovascular system.

Disease Ontology:11 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:48 Cerebrotendinous xanthomatosis is a type of lipid storage disease. symptoms of this condition include diarrhea in infants, cataracts in children, tendon xanthomas, and progressive neurologic dysfunction. it is caused by mutations in the cyp27a1 gene. treatment may involve chenodeoxycholic acid (cdca), inhibitors of hmg-coa reductase, and surgery to remove cataracts. last updated: 9/12/2013

UniProtKB/Swiss-Prot:70 Cerebrotendinous xanthomatosis: Rare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts.

GeneReviews for NBK1409

Related Diseases for Cerebrotendinous Xanthomatosis

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



Diseases related to cerebrotendinous xanthomatosis

Symptoms & Phenotypes for Cerebrotendinous Xanthomatosis

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Symptoms by clinical synopsis from OMIM:

213700

Clinical features from OMIM:

213700

Human phenotypes related to Cerebrotendinous Xanthomatosis:

 54 64 (show all 50)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the eye54 Very frequent (99-80%)
2 abnormality of vision64 54 Very frequent (99-80%) HP:0000504
3 cataract64 54 Very frequent (99-80%) HP:0000518
4 behavioral abnormality54 Frequent (79-30%)
5 depression64 54 Frequent (79-30%) HP:0000716
6 hallucinations64 54 Frequent (79-30%) HP:0000738
7 nephrolithiasis64 54 Occasional (29-5%) HP:0000787
8 xanthomatosis54 Very frequent (99-80%)
9 xanthelasma64 54 Very frequent (99-80%) HP:0001114
10 intellectual disability64 54 Very frequent (99-80%) HP:0001249
11 seizures64 54 Occasional (29-5%) HP:0001250
12 spasticity64 54 Frequent (79-30%) HP:0001257
13 muscle weakness64 54 Frequent (79-30%) HP:0001324
14 dystonia64 54 Frequent (79-30%) HP:0001332
15 myoclonus64 54 Very frequent (99-80%) HP:0001336
16 tremor64 54 Frequent (79-30%) HP:0001337
17 hyperreflexia64 54 Frequent (79-30%) HP:0001347
18 joint dislocation64 54 Occasional (29-5%) HP:0001373
19 joint stiffness64 54 Occasional (29-5%) HP:0001387
20 cholestasis64 54 Occasional (29-5%) HP:0001396
21 myocardial infarction64 54 Frequent (79-30%) HP:0001658
22 angina pectoris64 54 Frequent (79-30%) HP:0001681
23 diarrhea64 54 Occasional (29-5%) HP:0002014
24 malabsorption64 54 Occasional (29-5%) HP:0002024
25 abnormality of extrapyramidal motor function64 54 Frequent (79-30%) HP:0002071
26 neurological speech impairment64 54 Frequent (79-30%) HP:0002167
27 eeg abnormality64 54 Occasional (29-5%) HP:0002353
28 developmental regression64 54 Frequent (79-30%) HP:0002376
29 cerebral calcification64 54 Occasional (29-5%) HP:0002514
30 abnormality of the periventricular white matter64 54 Frequent (79-30%) HP:0002518
31 atherosclerosis54 Frequent (79-30%)
32 abnormality of cholesterol metabolism64 54 Frequent (79-30%) HP:0003107
33 hypercholesterolemia64 54 Frequent (79-30%) HP:0003124
34 abnormal pyramidal signs64 54 Frequent (79-30%) HP:0007256
35 peripheral neuropathy64 54 Frequent (79-30%) HP:0009830
36 optic disc pallor64 HP:0000543
37 dementia64 HP:0000726
38 delusions64 HP:0000746
39 osteoporosis64 HP:0000939
40 cholelithiasis64 HP:0001081
41 ataxia64 HP:0001251
42 cerebellar atrophy64 HP:0001272
43 cerebral atrophy64 HP:0002059
44 respiratory insufficiency64 HP:0002093
45 emg64 HP:0003482
46 pseudobulbar paralysis64 HP:0007024
47 eeg with generalized slow activity64 HP:0010845
48 tendon xanthomatosis64 HP:0010874
49 abnormality of central somatosensory evoked potentials64 HP:0100291
50 abnormality of the dentate nucleus64 HP:0100321

UMLS symptoms related to Cerebrotendinous Xanthomatosis:


angina pectoris, cerebellar ataxia, muscle spasticity

MGI Mouse Phenotypes related to Cerebrotendinous Xanthomatosis according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5CYP27A1, CYP7A1, HMGCR, NR1H3, NR1H4, NR1I2
2MP:00053858.1CYP27A1, CYP27B1, FDX1, NR1H3, NR1H4, VCL
3MP:00053768.0CYP27A1, CYP27B1, CYP7A1, HMGCR, NR1H3, NR1H4
4MP:00107686.9CYP7A1, FDX1, HMGCR, NR1H3, NR1H4, NR1I2

Drugs & Therapeutics for Cerebrotendinous Xanthomatosis

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

(show all 25)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Cholecalciferolapproved, nutraceuticalPhase 2, Phase 387567-97-06221, 10883523, 5280795
Synonyms:
()-Vitamin D3
(+)-Vitamin D3
(+)-vitamin D3
(1S,3Z)-3-[(2e)-2-[(1R,3AR,7as)-7a-methyl-1-[(2R)-6-methylheptan-2-yl]-2,3,3a,5,6,7-hexahydro-1H-inden-4-ylidene]ethylidene]-4-methylidene-cyclohexan-1-ol
(3S,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol
(3beta,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol
(3beta,Z,7E)-9,10-Secocholesta-5,7,10(19)-trien-3-ol
(3β,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol
(5E,7E)-9,10-Secocholesta-5,7,10-trien-3-ol
(5Z,7E)-(3S)-9,10-seco-5,7,10(19)-cholestatrien-3-ol
(5Z,7E)-(3S)-9,10-secocholesta-5,7,10(19)-trien-3-ol
1406-16-2
25(OH)D
3-beta,Z,7E-9,10-Secocholestr-5,7,10(19)-trien-3-ol
47763_SUPELCO
57651-82-8
67-97-0
7-Dehydrocholesterol activated
7-Dehydrocholesterol, Activated
7-Dehydrocholesterol, irradiated
7-Dehydrocholestrol, activated
8024-19-9
8050-67-7
89193_FLUKA
9,10-Seco(5Z,7E)-5,7,10(19)-cholestatrien-3-ol
9,10-Seco(5Z,7E)-5,7,10(19)-cholestatrien-3beta-ol
9,10-Secocholesta-5(Z),7(E),10(19)-trien-3(.beta.)-ol
9,10-Secocholesta-5,7,10(19)-trien-3-beta-ol
9,10-Secocholesta-5,7,10(19)-trien-3-ol
9,10-Secocholesta-5,7,10-trien-3-ol
AB1002422
AC-11697
AC1L1ECK
AC1L1M23
AC1LU7IZ
AC1NQXLN
AC1NR2UO
AC1NR2UR
AC1NR2UU
AC1NS4AJ
AC1NSHJX
AC1O5EOF
AC1O7GAV
AC1O7GQ3
AC1O8FEU
AC1O8PWJ
AC1OF2GI
AC1OF2GL
AC1OIEW5
AC1OIEWB
ACon1_001997
Activated 7-dehydrocholesterol
Arachitol
BPBio1_000460
BSPBio_000418
BSPBio_002408
Bio-0845
C05443
C1357_SIAL
C27H44O
C9756_SIGMA
C9774_SIAL
CAS-67-97-0
CC
CCRIS 5813
CCRIS 6286
CHEBI:283119
CHEBI:28940
CHEMBL1042
CHEMBL432780
CID10000117
CID10045875
CID10340013
CID10883523
CID10894379
CID11014566
CID11025493
CID11058152
CID11463269
CID1548921
CID2735
CID5280795
CID5283710
CID5283711
CID5283712
CID5353527
CID5363362
CID6221
CID6432644
CID6604201
CID6604662
CID6708595
CID6713938
CID6992015
CID6992016
CID7067439
CID7067440
CID7251172
CID7251174
CID9821465
Calciol
Cholecalciferol
Cholecalciferol (D3)
Cholecalciferol (JP15/USP)
Cholecalciferol D3
Cholecalciferol [USAN:BAN:JAN]
Cholecalciferol, D3
Cholecalciferolum
Colecalciferol
 
Colecalciferol (INN)
Colecalciferolo
Colecalciferolo [DCIT]
Colecalciferolum
Colecalciferolum [INN-Latin]
Colecalcipherol
D00188
D3-Vicotrat
D3-Vigantol
DB00169
Delsterol
Delta-D
Delta-D (TN)
Deparal
Devaron
DivK1c_006276
Duphafral D3 1000
EINECS 200-673-2
EINECS 215-797-2
EPA Pesticide Chemical Code 202901
Ebivit
FeraCol
Granuvit D3
HMS1569E20
HMS2092M12
HSDB 820
I05-0041
Irradiated 7-dehydrocholesterol
KBio1_001220
KBio2_001643
KBio2_004211
KBio2_006779
KBio3_001628
KBioGR_001602
KBioSS_001643
LMST03020001
LMST03020219
LMST03020220
LMST03020221
LS-1570
LS-825
LT00244775
MEGxm0_000458
Micro-dee
MolPort-001-740-051
MolPort-001-785-972
MolPort-003-666-021
MolPort-004-946-964
NCGC00016301-01
NCGC00017328-01
NCGC00091072-01
NCGC00142511-01
NCGC00159331-02
NCGC00159331-04
NCGC00178668-01
NCGC00179565-01
NCGC00179565-02
NEO Dohyfral D3
NSC 375571
NSC-375571
NSC375571
Oleovitamin D3
Prestwick0_000429
Prestwick1_000429
Prestwick2_000429
Prestwick3_000429
Prestwick_63
Provitamine
Provitina
Quintox
Rampage
Ricketon
SMP1_000068
SPBio_001298
SPBio_002357
SR-05000001559
SR-05000001559-3
ST057172
SpecPlus_000180
Spectrum2_001369
Spectrum3_000764
Spectrum4_001201
Spectrum_001163
TNP00266
Trivitan
UNII-1C6V77QF41
UPCMLD-DP152
UPCMLD-DP152:001
VITAMIN D
VITAMIN D3 POWDER
VITAMIN_D3
Vi-De3
Vi-de-3-hydrosol
VidDe-3-hydrosol
Videkhol
Vigantol
Vigorsan
Vitamin D-3
Vitamin D3
Vitamin D3 emulsifiable
Vitinc Dan-Dee-3
ZINC04474460
ZINC04492874
ZINC04492875
ZINC04492876
ZINC04492878
bmse000507
cholecalciferol
colecalciferolum
vitamin d-3
2
Ergocalciferolapproved, nutraceuticalPhase 2, Phase 3128150-14-65280793
Synonyms:
'Ergosterol irradiated'
(+)-Vitamin D2
(3-beta,5Z,7E,22E)-9,10-Secoergosta-5,7,10,(19),22-tetraen-3-ol
(3S,5Z,7E,14xi,17alpha,22E)-9,10-secoergosta-5,7,10,22-tetraen-3-ol
(3S,5Z,7E,22E)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol
(3S,5Z,7E,22E)-9,10-secoergosta-5,7,10,22-tetraen-3-ol
(3beta,5Z,7E,22E)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol
(3beta,5Z,7e,22e)-9,10-Secoergosta-5,7,10(19),22-tetraen-3-ol
(5E,7E,22E)-9,10-Secoergosta-5,7,10,22-tetraen-3-ol
(5Z,7E,22E)-(3S)-9,10-seco-5,7,10(19),22-ergostatetraen-3-ol
(5Z,7E,22E)-(3S)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol
(5Z,7e,22e)-(3S)-9,10-Seco-5,7,10(19),22-ergostatetraen-3-ol
(5Z,7e,22e)-(3S)-9,10-Secoergosta-5,7,10(19),22-tetraen-3-ol
22-Tetraen 3beta 9,10,Secoergosta-5,7,10(19)-ol
31316-19-5
4-Methylene-3-[2-[tetrahydro-7a-methyl-1-(1,4,5-trimethyl-2-hexenyl)-4(3aH)-indanylidene]ethylidene]-Cyclohexanol
47768_SUPELCO
50-14-6
7489-18-1
7E677DC1-E1C4-4FC5-8F4A-BCE1857F7E87
8017-28-5
9,10,Secoergosta-5,7,10(19),22-tetraen 3.beta.-ol
9,10-Seco(5Z,7E,22E)-5,7,10(19),22-ergostatetraen-3-ol
9,10-Secoergosta-5,7,10(19),22-tetraen-3-beta-ol
9,10-Secoergosta-5,7,10(19),22-tetraen-3b-ol
95220_FLUKA
95220_SIGMA
AC-1355
AC1L1FIE
AC1NQXLH
AC1NS4DE
AC1NS9GI
AC1NSSVD
AC1NWAM3
AC1O5EDK
AC1O6WAM
ACon1_002187
Activated ergosterol
BPBio1_000418
BSPBio_000380
BSPBio_001974
Buco-D
C05441
C28H44O
CALCIFEROL IN A GELATIN MATRIX
CALCIFEROL, U.S.P.
CHEBI:28934
CHEMBL1536
CID11003810
CID3249
CID5280793
CID5315257
CID5353610
CID5356615
CID5702050
CID6432478
CID6536972
Calciferol
Calciferol (TN)
Calciferol (vitamin D2)
Calciferolum
Calciferon 2
Condacaps
Condocaps
Condol
Crtron
Crystallina
D-Arthin
D-Tracetten
D00187
DB00153
Daral
Davitamon D
Davitin
De-rat concentrate
Decaps
Dee-Osterol
Dee-Ron
Dee-Ronal
Dee-Roual
Deltalin
Deratol
Detalup
Diactol
Divit urto
Doral
Drisdol
Drisdol (TN)
E5750_SIGMA
EINECS 200-014-9
Ercalciol
Ergocalciferol
Ergocalciferol (D2)
Ergocalciferol (JP15/USP)
Ergocalciferol [INN:BAN:JAN]
Ergocalciferol oil
Ergocalciferol: Vitamin D
 
Ergocalciferolo
Ergocalciferolo [DCIT]
Ergocalciferols
Ergocalciferolum
Ergocalciferolum [INN-Latin]
Ergorone
Ergosterol activated
Ergosterol irradiated
Ergosterol, irradiated
Ertron
Fortodyl
Geltabs
Geltabs Vitamin D
HMS1920K20
HMS2091B19
HMS502I07
HSDB 819
Haliver
Hi-Deratol
Hyperkil
I05-0022
IDI1_000805
Infron
Irradiated ergosta-5,7,22-trien-3-beta-ol
Irradiated ergosta-5,7,22-trien-3.beta.-ol
Irradiated ergosta-5,7,22-trien-3beta-ol
Irradiated ergosterol
LMST03010001
LMST03010014
LS-3228
MEGxm0_000466
MLS001332467
MLS001332468
Metadee
Mina D2
MolPort-001-740-057
MolPort-001-793-930
MolPort-002-526-645
MolPort-003-666-178
MolPort-006-822-629
Mulsiferol
Mykostin
NCGC00142497-01
NCGC00179579-01
NCGC00179579-02
NSC 62792
NSC62792
Novovitamin-D
Oleovitamin D
Oleovitamin D, Synthetic
Oleovitamin D2
Osteil
Ostelin
Prestwick3_000420
Prestwick_554
Radiostol
Radstein
Radsterin
Rodine C
Rodinec
SMR000857106
SPECTRUM1500276
ST057150
STOCK1N-53397
Shock-ferol
Shock-ferol sterogyl
Sorex C.R
Sorex C.R.
Spectrum5_000666
Sterogyl
Synthetic Vitamin D
UNII-VS041H42XC
Uvesterol D
Uvesterol-D
VITAMIN D2
VITAMIN D2 WATER DISPERSABLE U.S.P.
VITAMIN_D2
Vigantol
Vio D
Vio-D
Viostdrol
Viosterol
Viosterol in Oil
Vitamin D2
Vitamin- D2
Vitamin-?D2
Vitamina D2
Vitavel-D
WLN: L56 FYTJ A1 BY1&1U1Y1&Y1&1 FU2U- BL6YYTJ AU1 DQ
ZINC04474571
ZINC04629876
beta-Ol
bmse000510
component of Geltabs Vitamin D
delta-Arthin
delta-Tracetten
ergocalciferol
vitamin d-2
3vitamin dPhase 2, Phase 31724
4VitaminsPhase 2, Phase 35282
5Bone Density Conservation AgentsPhase 2, Phase 33376
6MicronutrientsPhase 2, Phase 36001
7Trace ElementsPhase 2, Phase 36001
8ErgocalciferolsPhase 2, Phase 31281
9HormonesPhase 2, Phase 314415
10Calcium, DietaryPhase 2, Phase 35713
11CalciferolNutraceuticalPhase 2, Phase 31383
12Vitamin D2NutraceuticalPhase 2, Phase 31281
13
chenodeoxycholic acidapprovedPhase 234474-25-910133
Synonyms:
(+)-chenodeoxycholate
(+)-chenodeoxycholic acid
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oate
(3a,5b,7a)-3,7-dihydroxy-cholan-24-oic acid
3a,7a-Dihydroxy-5b,14a,17b-cholanate
3a,7a-Dihydroxy-5b,14a,17b-cholanic acid
3a,7a-Dihydroxy-5b-cholan-24-oate
3a,7a-Dihydroxy-5b-cholan-24-oic acid
3a,7a-Dihydroxy-5b-cholanate
3a,7a-Dihydroxy-5b-cholanic acid
3alpha,7alpha-Dihydroxy-5beta-cholanic acid
7a-Hydroxy-desoxycholsaeure
 
7alpha-Hydroxylithocholic acid
Anthropodeoxycholic acid
Anthropodesoxycholic acid
CDCA
Chenic acid
Chenix
Chenocholic acid
Chenodeoxycholate
Chenodeoxycholic acid
Chenodesoxycholic acid
Chenodesoxycholsaeure
Chenodiol
Gallodesoxycholic acid
14
Lovastatinapproved, investigationalPhase 26375330-75-553232
Synonyms:
(1S,3R,7S,8S,8AR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-(2R,4R)-(tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl (S)-2-methyl-butyrate
1cqp
2beta,6alpha-Dimethyl-8alpha-(2-methyl-1-oxobutoxy)-mevinic acid lactone
6 Methylcompactin
6 alpha-Methylcompactin
6-Methylcompactin
6-alpha-Methylcompactin
6-alpha-methylcompactin
6alpha-Methylcompactin
6α-methylcompactin
71949-96-7
74133-25-8
75330-75-5
81739-26-6
AC-13961
AC1L1EI6
AC1Q2C7T
ACon0_000534
ACon1_000390
ARONIS24208
Altocor
Altoprev
Artein
BB_NC-1457
BIDD:GT0749
BIDD:PXR0113
BPBio1_000519
BRD-K09416995-001-06-8
BRN 3631989
BSPBio_000471
BSPBio_001265
BSPBio_003346
Belvas
C07074
C24H36O5
CCRIS 8092
CHEBI:40303
CHEMBL503
CID53232
CPD-5561
CPD000673570
Cholestra
Closterol
Colevix
D00359
D008148
DB00227
DivK1c_001032
HMS1569H13
HMS1792O07
HMS1923O13
HMS1990O07
HMS2089M06
HMS2093O03
HMS503O05
HSDB 6534
Hipolip
Hipovastin
I06-1876
IDI1_001032
KBio1_001032
KBio3_002848
L-154803
L0214
LOVASTATIN
LS-46359
Lestatin
Lipdip
Lipivas
Lipofren
Liposcler
 
Lovalip
Lovalord
Lovastatin & Primycin
Lovastatin (USP/INN)
Lovastatin [USAN:BAN:INN]
Lovastatin, (1 alpha(S*))-Isomer
Lovastatin, 1 alpha-Isomer (without R*/S* notation)
Lovastatina
Lovastatina [Spanish]
Lovastatine
Lovastatine [French]
Lovastatinum
Lovastatinum [Latin]
Lovasterol
Lovastin
Lozutin
M2147_SIGMA
MEGxm0_000398
MK 803
MK-803
MK803
ML-530B
ML-530b
MLS000069585
MLS001055358
MSD 803
Mevacor
Mevacor (TN)
Mevinacor
Mevinolin
Mevinolin from Aspergillus sp.
Mevlor
MolPort-001-739-990
Monacolin K
Monacolin-K
Monakolin K
NCGC00023509-03
NCGC00023509-04
NCGC00023509-05
NCGC00023509-06
NCGC00023509-07
NCGC00023509-08
NINDS_001032
Nergadan
Paschol
Prestwick0_000516
Prestwick1_000516
Prestwick2_000516
Prestwick3_000516
Prestwick_819
Rextat
Rodatin
Rovacor
SAM002589963
SMR000058779
SMR000673570
SPBio_002392
SPECTRUM1503977
STK801953
Sivlor
Spectrum3_001873
Spectrum5_001294
Taucor
Tecnolip
Teroltrat
UNII-9LHU78OQFD
ZINC03812841
lovastatin
lovastatin lactone
nchembio742-comp5
nchembio790-comp14
nchembio869-comp12
15L 647318Phase 263
16LaxativesPhase 2537
17Lipid Regulating AgentsPhase 22766
18Hypolipidemic AgentsPhase 22785
19Anticholesteremic AgentsPhase 22025
20AntimetabolitesPhase 212054
21CatharticsPhase 2537
22DihydromevinolinPhase 263
23Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 21998
24Gastrointestinal AgentsPhase 28402
25Calcifediol5019356-17-3

Interventional clinical trials:

idNameStatusNCT IDPhase
1Vitamin D Supplementation and Male Infertility: The CBG-study a Randomized Clinical TrialCompletedNCT01304927Phase 2, Phase 3
2Phase II Study of Cholesterol- and Cholestanol-Free Diet, Lovastatin, and Chenodeoxycholic Acid for Cerebrotendinous XanthomatosisUnknown statusNCT00004346Phase 2
3Evaluation of Carotid IMT and Atherogenic Risk Factors in Patients With Cerebrotendinous XanthomatosisUnknown statusNCT01613898
4The Role of Narrowband Ultraviolet B Exposure in the Maintenance of Vitamin D Levels During WinterCompletedNCT02275650
5Cerebrotendinous Xanthomatosis (CTX) Prevalence StudyRecruitingNCT02638220
6Clinical Tests to Predict the Success of Assisted Reproductive TechniquesRecruitingNCT02437578
7Cholestanol in HumansWithdrawnNCT00018694

Search NIH Clinical Center for Cerebrotendinous Xanthomatosis


Cochrane evidence based reviews: xanthomatosis, cerebrotendinous

Genetic Tests for Cerebrotendinous Xanthomatosis

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Genetic tests related to Cerebrotendinous Xanthomatosis:

id Genetic test Affiliating Genes
1 Cholestanol Storage Disease27
2 Cerebrotendinous Xanthomatosis24 CYP27A1

Anatomical Context for Cerebrotendinous Xanthomatosis

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MalaCards organs/tissues related to Cerebrotendinous Xanthomatosis:

36
Brain, Bone, Lung, Spinal cord, Eye, Liver, Skin

Publications for Cerebrotendinous Xanthomatosis

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Articles related to Cerebrotendinous Xanthomatosis:

(show top 50)    (show all 404)
idTitleAuthorsYear
1
A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios. (28314860)
2017
2
Case 239: Cerebrotendinous Xanthomatosis. (28218883)
2017
3
The role of dentate nuclei in human oculomotor control: insights from cerebrotendinous xanthomatosis. (28168705)
2017
4
Sonographic Findings of Polyneuropathy Associated With Cerebrotendinous Xanthomatosis: A Case Report. (28503466)
2017
5
A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract. (28229379)
2017
6
The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progression. (28324197)
2017
7
Induced pluripotent stem cells (iPSCs) derived from cerebrotendinous xanthomatosis (CTX) patient's fibroblasts carrying a R395S mutation. (27879219)
2016
8
Pathophysiology of cerebrotendinous xanthomatosis. (27840382)
2016
9
Cerebrotendinous xanthomatosis (a rare lipid storage disorder): a case report. (27094915)
2016
10
Cerebrotendinous Xanthomatosis: A Treatable Genetic Disease Not to Be Missed. (26906304)
2016
11
Different phenotypes in identical twins with cerebrotendinous xanthomatosis: case series. (27888347)
2016
12
Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood. (27084087)
2016
13
The wide spectrum of cerebrotendinous xanthomatosis: Case report of a rare but treatable disease. (26874936)
2016
14
Cerebrotendinous xanthomatosis. (27559524)
2016
15
Cerebrotendinous Xanthomatosis Without Skin Changes: Diagnostic Delay and Confirmation by Genetic Analysis. (27771677)
2016
16
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
17
Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability. (27858369)
2016
18
Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports. (27225395)
2016
19
Cerebrotendinous xanthomatosis; a genetic condition: Clinical profile of three patients from a rural Indian family and review of literature. (27182150)
2016
20
Cerebrotendinous xanthomatosis and Marfan syndrome - A picturesque combination. (27625283)
2016
21
Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method. (27331003)
2016
22
Apparent underdiagnosis of Cerebrotendinous Xanthomatosis revealed by analysis of ~60,000 human exomes. (26643207)
2015
23
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis. (26153518)
2015
24
Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report. (26519892)
2015
25
Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis. (25983621)
2015
26
Spinal form cerebrotendinous xanthomatosis patient with long spinal cord lesion. (25941960)
2015
27
Novel cerebrotendinous xanthomatosis mutation causes familial early dementia in Colombia. (26844446)
2015
28
Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population. (26937392)
2015
29
Cholestane-3I^,5I+,6I^-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency. (26239048)
2015
30
Enlarging brain xanthomas in a patient with cerebrotendinous xanthomatosis. (25567502)
2015
31
Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment. (26156051)
2015
32
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management. (25424010)
2014
33
Clinical and radiological findings of a cerebrotendinous xanthomatosis patient with a novel p.A335V mutation in the CYP27A1 gene. (25447658)
2014
34
A useful multi-analyte blood test for cerebrotendinous xanthomatosis. (24769274)
2014
35
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
36
A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis. (24442603)
2014
37
A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns. (24186955)
2014
38
Cerebrotendinous xanthomatosis: recurrence of the CYP27A1 mutation p.Arg479Cys in Sardinia. (24584636)
2014
39
Screening for cerebrotendinous xanthomatosis. (25234588)
2014
40
Cerebrotendinous xanthomatosis: an early diagnosis by biochemical tests. (24553972)
2014
41
Cerebrotendinous xanthomatosis: the effectiveness of high-dose piracetam for the treatment of cerebellar and sensorial ataxia. (25084753)
2014
42
Cerebrotendinous xanthomatosis. (23682184)
2013
43
Psychiatric manifestations in cerebrotendinous xanthomatosis. (24002088)
2013
44
99mTc-Sestamibi Thigh SPECT/CT Imaging for Assessment of Myopathy in Cerebrotendinous Xanthomatosis With Histopathological and Immunohistochemical Correlation. (23989447)
2013
45
Cerebrotendinous xanthomatosis with the c.379C>T (p.R127W) mutation in the CYP27A1 gene associated with premature age-associated limbic tauopathy. (23659550)
2013
46
Cerebrotendinous xanthomatosis presenting with bilateral achilles tendon xanthomata: a case report. (23536508)
2013
47
Long-term bone density evaluation in cerebrotendinous xanthomatosis: evidence of improvement after chenodeoxycholic acid treatment. (23212544)
2013
48
Brain metabolism changes after therapy with chenodeoxycholic acid in a case of cerebrotendinous xanthomatosis. (23212406)
2013
49
'Hot cross bun' sign in a case of cerebrotendinous xanthomatosis: a rare neuroimaging observation. (23417372)
2013
50
Cerebrotendinous xanthomatosis--the spectrum of imaging findings. (23705046)
2013

Variations for Cerebrotendinous Xanthomatosis

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

70
id Symbol AA change Variation ID SNP ID
1CYP27A1p.Arg395CysVAR_001303rs121908096
2CYP27A1p.Arg479CysVAR_001304rs72551322
3CYP27A1p.Arg395SerVAR_012285rs121908096
4CYP27A1p.Arg405GlnVAR_012286rs121908099
5CYP27A1p.Arg474GlnVAR_012287rs121908097
6CYP27A1p.Arg474TrpVAR_012288rs121908098
7CYP27A1p.Gly145GluVAR_016966rs72551313

Clinvar genetic disease variations for Cerebrotendinous Xanthomatosis:

5 (show all 63)
id Gene Variation Type Significance SNP ID Assembly Location
1CYP27A1NM_ 000784.3(CYP27A1): c.526delG (p.Asp176Metfs)deletionLikely pathogenicrs886055630GRCh37Chr 2, 219677024: 219677024
2CYP27A1NM_ 000784.3(CYP27A1): c.847A> T (p.Lys283Ter)SNVLikely pathogenicrs1057519469GRCh37Chr 2, 219677649: 219677649
3CYP27A1NM_ 000784.3(CYP27A1): c.1435C> T (p.Arg479Cys)SNVPathogenicrs72551322GRCh37Chr 2, 219679439: 219679439
4CYP27A1NM_ 000784.3(CYP27A1): c.1183C> T (p.Arg395Cys)SNVPathogenicrs121908096GRCh37Chr 2, 219678909: 219678909
5CYP27A1NM_ 000784.3(CYP27A1): c.845-1G> ASNVPathogenicrs397515353GRCh37Chr 2, 219677646: 219677646
6CYP27A1NM_ 000784.3(CYP27A1): c.844+1G> ASNVPathogenicrs397515354GRCh37Chr 2, 219677473: 219677473
7CYP27A1NM_ 000784.3(CYP27A1): c.1421G> A (p.Arg474Gln)SNVPathogenicrs121908097GRCh37Chr 2, 219679425: 219679425
8CYP27A1NM_ 000784.3(CYP27A1): c.1420C> T (p.Arg474Trp)SNVPathogenicrs121908098GRCh37Chr 2, 219679424: 219679424
9CYP27A1NM_ 000784.3(CYP27A1): c.1214G> A (p.Arg405Gln)SNVPathogenicrs121908099GRCh37Chr 2, 219679132: 219679132
10CYP27A1NM_ 000784.3(CYP27A1): c.1183C> A (p.Arg395Ser)SNVPathogenicrs121908096GRCh37Chr 2, 219678909: 219678909
11CYP27A1NM_ 000784.3(CYP27A1): c.1263+1G> ASNVPathogenicrs397515355GRCh37Chr 2, 219679182: 219679182
12CYP27A1NM_ 000784.3(CYP27A1): c.434G> A (p.Gly145Glu)SNVPathogenicrs72551313GRCh37Chr 2, 219674478: 219674478
13CYP27A1NM_ 000784.3(CYP27A1): c.944_ 948delTGGCC (p.Leu315Glnfs)deletionPathogenicrs397515356GRCh37Chr 2, 219677746: 219677750
14CYP27A1NM_ 000784.3(CYP27A1): c.1016C> T (p.Thr339Met)SNVPathogenic/ Likely pathogenicrs121908102GRCh37Chr 2, 219677818: 219677818
15CYP27A1NM_ 000784.3(CYP27A1): c.1435C> G (p.Arg479Gly)SNVPathogenicrs72551322GRCh37Chr 2, 219679439: 219679439
16CYP27A1NM_ 000784.3(CYP27A1): c.1017G> C (p.Thr339=)SNVPathogenicrs200553205GRCh37Chr 2, 219677819: 219677819
17CYP27A1NM_ 000784.3(CYP27A1): c.1061A> G (p.Asp354Gly)SNVPathogenicrs72551320GRCh37Chr 2, 219678787: 219678787
18NM_ 000784.3: c.10_ 11 ins10bpinsertionPathogenic
19NM_ 000784.3: c.1146_ 1151delinsinsertionPathogenic
20NM_ 000784.3: c.1180-1181delCTdeletionPathogenic
21CYP27A1NM_ 000784.3(CYP27A1): c.1184+1G> ASNVPathogenicrs587778777GRCh37Chr 2, 219678911: 219678911
22CYP27A1NM_ 000784.3(CYP27A1): c.1184G> A (p.Arg395His)SNVPathogenicrs587778778GRCh37Chr 2, 219678910: 219678910
23CYP27A1NM_ 000784.3(CYP27A1): c.1185-1G> TSNVPathogenicrs587778779GRCh37Chr 2, 219679102: 219679102
24CYP27A1NM_ 000784.3(CYP27A1): c.1202C> G (p.Pro401Arg)SNVPathogenicrs587778780GRCh37Chr 2, 219679120: 219679120
25CYP27A1NM_ 000784.3(CYP27A1): c.1209C> G (p.Asn403Lys)SNVPathogenicrs587778781GRCh37Chr 2, 219679127: 219679127
26CYP27A1NM_ 000784.3(CYP27A1): c.1213C> T (p.Arg405Trp)SNVPathogenicrs573951598GRCh37Chr 2, 219679131: 219679131
27CYP27A1NM_ 000784.3(CYP27A1): c.1222G> T (p.Glu408Ter)SNVPathogenicrs587778782GRCh37Chr 2, 219679140: 219679140
28CYP27A1NM_ 000784.3(CYP27A1): c.1238T> A (p.Val413Asp)SNVPathogenicrs587778783GRCh37Chr 2, 219679156: 219679156
29CYP27A1NM_ 000784.3(CYP27A1): c.1263+5G> TSNVPathogenicrs587778784GRCh37Chr 2, 219679186: 219679186
30NM_ 000784.3: c.1263+81_ 1596+?deldeletionPathogenic
31CYP27A1NM_ 000784.3(CYP27A1): c.1264-1G> ASNVPathogenicrs587778785GRCh37Chr 2, 219679267: 219679267
32NM_ 000784.3: c.1323C> TSNVPathogenic
33NM_ 000784.3: c.1330-1333delTTCCdeletionPathogenic
34CYP27A1NM_ 000784.3(CYP27A1): c.1402C> T (p.Pro468Ser)SNVPathogenicrs587778787GRCh37Chr 2, 219679406: 219679406
35CYP27A1NM_ 000784.3(CYP27A1): c.1415G> C (p.Gly472Ala)SNVPathogenicrs200883871GRCh37Chr 2, 219679419: 219679419
36CYP27A1NM_ 000784.3(CYP27A1): c.305delC (p.Pro102Leufs)deletionPathogenicrs587778790GRCh37Chr 2, 219674349: 219674349
37CYP27A1NM_ 000784.3(CYP27A1): c.355delC (p.Arg119Glyfs)deletionPathogenicrs587778793GRCh37Chr 2, 219674399: 219674399
38CYP27A1NM_ 000784.3(CYP27A1): c.369_ 375delGTACCCA (p.Pro125Glyfs)deletionPathogenicrs587778794GRCh37Chr 2, 219674413: 219674419
39CYP27A1NM_ 000784.3(CYP27A1): c.379C> T (p.Arg127Trp)SNVPathogenicrs201114717GRCh37Chr 2, 219674423: 219674423
40CYP27A1NM_ 000784.3(CYP27A1): c.380G> A (p.Arg127Gln)SNVPathogenicrs376230356GRCh37Chr 2, 219674424: 219674424
41CYP27A1NM_ 000784.3(CYP27A1): c.409C> T (p.Arg137Trp)SNVPathogenicrs72551312GRCh37Chr 2, 219674453: 219674453
42CYP27A1NM_ 000784.3(CYP27A1): c.433G> A (p.Gly145Arg)SNVPathogenicrs587778795GRCh37Chr 2, 219674477: 219674477
43CYP27A1NM_ 000784.3(CYP27A1): c.435G> T (p.Gly145=)SNVPathogenicrs587778796GRCh37Chr 2, 219674479: 219674479
44CYP27A1NM_ 000784.3(CYP27A1): c.446+1G> ASNVPathogenicrs587778797GRCh37Chr 2, 219674491: 219674491
45CYP27A1NM_ 000784.3(CYP27A1): c.475C> T (p.Gln159Ter)SNVPathogenic/ Likely pathogenicrs72551314GRCh37Chr 2, 219676973: 219676973
46NM_ 000784.3: c.525-526delGdeletionPathogenic
47CYP27A1NM_ 000784.3(CYP27A1): c.583G> T (p.Glu195Ter)SNVPathogenicrs587778800GRCh37Chr 2, 219677081: 219677081
48NM_ 000784.3: c.599C> TSNVPathogenic
49CYP27A1NM_ 000784.3(CYP27A1): c.5dupC (p.Ala3Cysfs)duplicationPathogenicrs587778802GRCh37Chr 2, 219646910: 219646910
50CYP27A1NM_ 000784.3(CYP27A1): c.646G> C (p.Ala216Pro)SNVPathogenicrs201346271GRCh37Chr 2, 219677144: 219677144
51CYP27A1NM_ 000784.3(CYP27A1): c.647-1G> TSNVPathogenicrs587778804GRCh37Chr 2, 219677274: 219677274
52CYP27A1NM_ 000784.3(CYP27A1): c.691C> T (p.Arg231Ter)SNVPathogenicrs72551315GRCh37Chr 2, 219677319: 219677319
53CYP27A1NM_ 000784.3(CYP27A1): c.73delG (p.Ala25Profs)deletionPathogenicrs587778807GRCh37Chr 2, 219646978: 219646978
54CYP27A1NM_ 000784.3(CYP27A1): c.745C> T (p.Gln249Ter)SNVPathogenicrs72551316GRCh37Chr 2, 219677373: 219677373
55CYP27A1NM_ 000784.3(CYP27A1): c.752C> A (p.Ser251Ter)SNVPathogenicrs587778808GRCh37Chr 2, 219677380: 219677380
56CYP27A1NM_ 000784.3(CYP27A1): c.776A> G (p.Lys259Arg)SNVPathogenicrs72551317GRCh37Chr 2, 219677404: 219677404
57CYP27A1NM_ 000784.3(CYP27A1): c.779G> A (p.Trp260Ter)SNVPathogenicrs587778810GRCh37Chr 2, 219677407: 219677407
58CYP27A1NM_ 000784.3(CYP27A1): c.808C> T (p.Arg270Ter)SNVPathogenicrs72551318GRCh37Chr 2, 219677436: 219677436
59CYP27A1NM_ 000784.3(CYP27A1): c.819delT (p.Asp273Glufs)deletionPathogenicrs587778812GRCh37Chr 2, 219677447: 219677447
60CYP27A1NM_ 000784.3(CYP27A1): c.850A> T (p.Lys284Ter)SNVPathogenicrs72551319GRCh37Chr 2, 219677652: 219677652
61CYP27A1NM_ 000784.3(CYP27A1): c.863delA (p.Glu288Glyfs)deletionPathogenicrs587778815GRCh37Chr 2, 219677665: 219677665
62CYP27A1NM_ 000784.3(CYP27A1): c.410G> A (p.Arg137Gln)SNVPathogenicrs587778818GRCh37Chr 2, 219674454: 219674454
63NP_ 000775.1: p.Trp133*undetermined variantPathogenic

Expression for genes affiliated with Cerebrotendinous Xanthomatosis

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Search GEO for disease gene expression data for Cerebrotendinous Xanthomatosis.

Pathways for genes affiliated with Cerebrotendinous Xanthomatosis

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

(show all 14)
idSuper pathwaysScoreTop Affiliating Genes
19.8HMGCR, NR1I2
29.6CYP27A1, CYP27B1
3
Show member pathways
9.6CYP7A1, HMGCR
49.5CYP7A1, NR1H4
59.3HMGCR, NR1H3
6
Show member pathways
9.2CYP27A1, CYP7A1, NR1H4
79.2CYP7A1, NR1H4, NR1I2
89.2CYP7A1, HMGCR, NR1H4
99.1CYP7A1, NR1H3
10
Show member pathways
8.9NR1H3, NR1H4, NR1I2
118.8CYP27A1, CYP7A1, NR1H3
12
Show member pathways
8.2CYP27A1, CYP27B1, CYP7A1, FDX1, NR1H4
137.9CYP27B1, CYP7A1, NR1H3, NR1H4, NR1I2
14
Show member pathways
7.0CYP27A1, CYP27B1, CYP7A1, FDX1, HMGCR, NR1H3

GO Terms for genes affiliated with Cerebrotendinous Xanthomatosis

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1bile acid biosynthetic processGO:000669910.4CYP27A1, CYP7A1
2steroid biosynthetic processGO:000669410.3FDX1, HMGCR
3regulation of bile acid biosynthetic processGO:007085710.2CYP7A1, NR1H4
4regulation of cholesterol homeostasisGO:20001889.9NR1H3, NR1H4
5cholesterol homeostasisGO:00426329.8CYP7A1, NR1H3
6cholesterol metabolic processGO:00082039.8CYP7A1, FDX1, HMGCR
7sterol metabolic processGO:00161259.8CYP27A1, CYP7A1, FDX1
8intracellular receptor signaling pathwayGO:00305229.6NR1H3, NR1H4, NR1I2
9steroid hormone mediated signaling pathwayGO:00434019.5NR1H3, NR1H4, NR1I2
10steroid metabolic processGO:00082029.4CYP7A1, FDX1, HMGCR, NR1I2
11transcription initiation from RNA polymerase II promoterGO:00063679.3NR1H3, NR1H4, NR1I2
12triglyceride homeostasisGO:00703289.2NR1H3, NR1H4
13oxidation-reduction processGO:00551148.9CYP27A1, CYP27B1, CYP7A1, FDX1, HMGCR

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1thyroid hormone receptor activityGO:000488710.3NR1H4, NR1I2
2heme bindingGO:00200379.9CYP27A1, CYP27B1, CYP7A1
3oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygenGO:00167059.7CYP27A1, CYP27B1, CYP7A1
4RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA bindingGO:00048799.5NR1H3, NR1H4, NR1I2
5steroid hormone receptor activityGO:00037079.5NR1H3, NR1H4, NR1I2
6iron ion bindingGO:00055069.4CYP27A1, CYP27B1, CYP7A1, FDX1
7oxidoreductase activityGO:00164919.4CYP27A1, CYP27B1, CYP7A1, HMGCR
8transcription coactivator activityGO:00037138.9NR1H3, NR1H4, NR1I2
9metal ion bindingGO:00468727.8CYP27A1, CYP27B1, CYP7A1, FDX1, NR1H3, NR1H4

Sources for Cerebrotendinous Xanthomatosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet