CTX
MCID: CRB011
MIFTS: 75

Cerebrotendinous Xanthomatosis (CTX) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Liver diseases, Skin diseases, Endocrine diseases categories
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Summaries for Cerebrotendinous Xanthomatosis

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8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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Genetics Home Reference:21 Cerebrotendinous xanthomatosis is a fat (lipid) storage disorder that affects many areas of the body. People with this disorder cannot break down certain lipids effectively, specifically different forms of cholesterol, so these fats accumulate in various areas of the body. Xanthomatosis refers to the formation of fatty yellow nodules (xanthomas). Cerebrotendinous refers to the typical locations of the xanthomas (cerebro- meaning the brain and -tendinous meaning connective tissue called tendons that attach muscle to bone).

MalaCards: Cerebrotendinous Xanthomatosis, also known as CTX, is related to xanthomatosis and osteoporosis, and has symptoms including malabsorption/chronic diarrhea/steatorrhea, hepatitis/icterus/cholestasis and urinary/renal lithiasis/kidney stones/nephritic colic. An important gene associated with Cerebrotendinous Xanthomatosis is CYP27A1 (cytochrome P450, family 27, subfamily A, polypeptide 1), and among its related pathways are Synthesis of bile acids and bile salts and Vitamin D synthesis. The compounds 24s-hydroxy-cholesterol and alfacalcidol have been mentioned in the context of this disorder. Affiliated tissues include brain, lung and spinal cord, and related mouse phenotypes are skeleton and liver/biliary system.

Disease Ontology:8 A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has material basis in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma.

NIH Rare Diseases:43 Cerebrotendinous xanthomatosis is a type of lipid storage disease. symptoms of this condition include diarrhea in infants, cataracts in children, tendon xanthomas, and progressive neurologic dysfunction. it is caused by mutations in the cyp27a1 gene. treatment may involve chenodeoxycholic acid (cdca), inhibitors of hmg-coa reductase, and surgery to remove cataracts. last updated: 9/12/2013

Wikipedia:65 Cerebrotendineous xanthomatosis or cerebrotendinous xanthomatosis (CTX), also called cerebral... more...

Description from OMIM:47 213700

GeneReviews summary for ctx

Aliases & Classifications for Cerebrotendinous Xanthomatosis

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8Disease Ontology, 9diseasecard, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 35MeSH, 40NCIt, 58SNOMED-CT, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

49
cerebrotendinous xanthomatosis:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Adult


Aliases & Descriptions:

cerebrotendinous xanthomatosis 8 9 19 43 20 21 47 10 49
ctx 19 43 21 49
cholestanol storage disease 8 22 21
cerebral cholesterinosis 19 43 21
xanthomatosis, cerebrotendinous 21 62
van bogaert-scherer-epstein disease 21
sterol 27-hydroxylase deficiency 49
cerebrotendinous cholesterinosis 21
xanthomatosis cerebrotendinous 45


External Ids:

Disease Ontology8 DOID:4810
OMIM47 213700
MeSH35 D019294
NCIt40 C84628
SNOMED-CT58 63246000
MESH via Orphanet36 D019294
ICD10 via Orphanet26 E75.5
SNOMED-CT via Orphanet59 63246000
UMLS via Orphanet63 C0238052

Related Diseases for Cerebrotendinous Xanthomatosis

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17GeneCards, 18GeneDecks
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Diseases related to Cerebrotendinous Xanthomatosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 130)
idRelated DiseaseScoreTop Affiliating Genes
1xanthomatosis32.3CYP7A1, APOB
2osteoporosis30.6SP1, CYP27B1, CALCA, NR1H2, HMGCR
3coronary artery disease30.5APOA1, APOB, HMGCR
4sitosterolemia30.4HMGCR, CYP7A1
5rickets30.4NR1H2, CYP27B1, CYP27A1
6hypercholesterolemia30.4CYP27A1, CYP7A1, APOA1, APOB, NR1H4, HMGCR
7familial hypercholesterolemia30.4HMGCR, APOB
8acute myocardial infarction30.3APOA1, APOB, HMGCR
9multiple sclerosis30.2HMGCR, APOA1, CYP27B1
10myocardial infarction30.2HMGCR, APOB, APOA1, SP1
11rheumatoid arthritis30.1HMGCR, NR1H2, APOA1, CYP27B1
12osteoarthritis30.1NR1H2, NR1H4, CALCA
13atherosclerosis30.1CYP27A1, CYP7A1, APOA1, APOB, NR1H4, NR1H2
14arthritis30.1SP1, CALCA, NR1H2, HMGCR
15obesity29.8APOA1, APOB, NR1H4, NR1H2
16breast cancer29.7SP1, CYP27B1, CALCA, NR1H4, NR1H2
17cataract10.7
18klebsiella10.6
19pneumonia10.6
20diarrhea10.5
21neuropathy10.5
22ataxia10.5
23cerebritis10.4
24dystonia10.4
25hepatitis10.4
26peripheral neuropathy10.4
27polyneuropathy10.4
28bone fracture10.4
29oromandibular dystonia10.4
30artery disease10.4
31dementia10.4
32lipid storage disease10.4
33tendinitis10.2
34parametritis10.2
35nephrolithiasis10.2
36blepharospasm10.2
37tauopathy10.2
38nephrocalcinosis10.2
39tabes dorsalis10.2
40lymphangioleiomyomatosis10.2
41smith-lemli-opitz syndrome10.2
42cerebellar ataxia10.2
43gallbladder cancer10.2
44leukodystrophy10.2
45liver disease10.2
46myopathy10.2
47thrombocytopenia10.2
48neurologic diseases10.2
49char syndrome10.2
50vitamin d-dependent rickets type i10.2

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



Diseases related to cerebrotendinous xanthomatosis

Symptoms for Cerebrotendinous Xanthomatosis

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

213700

Clinical features from OMIM:

213700

Symptoms:

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

Drugs & Therapeutics for Cerebrotendinous Xanthomatosis

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Cerebrotendinous Xanthomatosis

Search NIH Clinical Center for Cerebrotendinous Xanthomatosis

Genetic Tests for Cerebrotendinous Xanthomatosis

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20GeneTests, 22GTR
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Genetic tests related to Cerebrotendinous Xanthomatosis:

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

Anatomical Context for Cerebrotendinous Xanthomatosis

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33MalaCards
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MalaCards organs/tissues related to Cerebrotendinous Xanthomatosis:

33
Brain, Lung, Spinal cord, Eye, Liver, Skin, Pons, Kidney, Bone, Testes, Heart

Animal Models for Cerebrotendinous Xanthomatosis or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Cerebrotendinous Xanthomatosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.3NR1H2, NR1H4, CALCA, CYP27B1, SP1
2MP:00053707.6SP1, CYP27A1, CYP7A1, APOA1, APOB, NR1H4
3MP:00107717.4NR1H2, SP1, CYP7A1, CYP27B1, APOA1, FLNC
4MP:00053857.1SP1, APOA1, APOB, FLNC, CALCA, NR1H4
5MP:00107686.8SP1, CYP7A1, APOB, FLNC, CALCA, NR1H4
6MP:00053766.7SP1, CYP27A1, CYP7A1, CYP27B1, APOA1, APOB

Publications for Cerebrotendinous Xanthomatosis

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52PubMed
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Articles related to Cerebrotendinous Xanthomatosis:

(show top 50)    (show all 359)
idTitleAuthorsYear
1
Cerebrotendinous xanthomatosis--the spectrum of imaging findings. (23705046)
2013
2
Fluoxetine-responsive depression in a Chinese cerebrotendinous xanthomatosis. (22133984)
2012
3
Myoclonus and dystonia in cerebrotendinous xanthomatosis. (23115103)
2012
4
A case of cerebrotendinous xanthomatosis presenting with epilepsy as an initial symptom with a novel V413D mutation in the CYP27A1 gene. (22336472)
2012
5
Leukodystrophy with a cerebellar cystic aspect and intracranial atherosclerosis: an atypical presentation of cerebrotendinous xanthomatosis. (21769531)
2012
6
Botulinum toxin-responsive oromandibular dystonia in cerebrotendinous xanthomatosis. (21531161)
2011
7
Cerebrotendinous xanthomatosis: a rare cause of spinocerebellar syndrome. (22212991)
2011
8
Cerebrotendinous xanthomatosis: report of 4 patients]. (19457308)
2009
9
Cerebrotendinous xanthomatosis]. (19034999)
2008
10
Cerebrotendinous xanthomatosis with a compound heterozygote mutation and severe polyneuropathy. (17319284)
2007
11
Cerebrotendinous xanthomatosis: report of two Brazilian brothers. (15608974)
2004
12
Cerebrotendinous xanthomatosis: neuroimaging findings in two siblings from an Indian family. (14652454)
2003
13
Cerebrotendinous xanthomatosis with psychiatric disorders: report of three siblings and literature review. (12141707)
2002
14
A case of familial type IIa hypercholesterolemia with the clinical features similar to cerebrotendinous xanthomatosis]. (10885331)
2000
15
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. (10775536)
2000
16
Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism. (10406988)
1999
17
Genetic analysis enables definite and rapid diagnosis of cerebrotendinous xanthomatosis. (9748042)
1998
18
Partial deletion of the gene encoding sterol 27-hydroxylase in a subject with cerebrotendinous xanthomatosis. (8728327)
1996
19
A novel mutation in the cytochrome P450(27) (CYP27) gene caused cerebrotendinous xanthomatosis in a Japanese family. (8728324)
1996
20
Determination of the glucurono-conjugated position in bile alcohol glucuronides present in a patient with cerebrotendinous xanthomatosis. (8539780)
1995
21
Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family. (7860076)
1995
22
Historical aspects of cerebrotendinous xanthomatosis (CTX). (11619019)
1995
23
Ocular and systemic manifestations of cerebrotendinous xanthomatosis. (7485361)
1995
24
Determination of the glucurono-conjugated position in bile alcohol glucuronides excreted in urine of a patient with cerebrotendinous xanthomatosis by a nuclear magnetic resonance study. (8089079)
1994
25
Biochemical studies of inherited diseases related to abnormal cholesterol metabolism. I. High-performance liquid chromatographic analysis of bile alcohol glucuronides in cerebrotendinous xanthomatosis. (7920441)
1994
26
Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in an Afrikaner family. (8162025)
1994
27
Cerebrotendinous Xanthomatosis (20301583)
1993
28
Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis. (8231848)
1993
29
Treatment of cerebrotendinous xanthomatosis with low-density lipoprotein (LDL)-apheresis. (8445406)
1993
30
Radioimmunoassay of 5 beta-cholestane-3 alpha,7 alpha,12 alpha,25-tetrol 3-glucuronide in serum of patients with cerebrotendinous xanthomatosis. (1585391)
1992
31
Evoked potentials in cerebrotendinous xanthomatosis and effect induced by chenodeoxycholic acid. (1316120)
1992
32
Paediatric cerebrotendinous xanthomatosis. (1405473)
1992
33
Juvenile cataract associated with chronic diarrhea in pediatric cerebrotendinous xanthomatosis. (1951610)
1991
34
Cerebrotendinous xanthomatosis: clinical and MRI study (a case report). (2303834)
1990
35
Cerebrotendinous xanthomatosis. (2329221)
1990
36
Cerebrotendinous xanthomatosis. (2493565)
1989
37
Low-density lipoprotein metabolism in cerebrotendinous xanthomatosis. (3821507)
1987
38
Accumulation of 7 alpha-hydroxy-4-cholesten-3-one and cholesta-4,6-dien-3-one in patients with cerebrotendinous xanthomatosis: effect of treatment with chenodeoxycholic acid. (3557306)
1987
39
Bile acid profiles in bile, urine, and feces of a patient with cerebrotendinous xanthomatosis. (3660436)
1986
40
Peripheral neuropathy in cerebrotendinous xanthomatosis. (2994606)
1985
41
Diagnosis of cerebrotendinous xanthomatosis (CTX) and effect of chenodeoxycholic acid therapy by analysis of urine using capillary gas chromatography. (6883710)
1983
42
Cerebrotendinous xanthomatosis: A cause of cataracts and tendon xanthoma. (6805326)
1982
43
A unique patient with coexisting cerebrotendinous xanthomatosis and beta-sitosterolemia. (7258222)
1981
44
Assay of intermediates in bile acid biosynthesis using isotope dilution--mass spectrometry: hepatic levels in the normal state and in cerebrotendinous xanthomatosis. (7017048)
1981
45
Peripheral neuropathy in cerebrotendinous xanthomatosis. (221858)
1979
46
Configurational assignment of 5 beta-cholestane-3 alpha, 7 alpha, 12 alpha, 23, 25-pentol excreted by patients with cerebrotendinous xanthomatosis (a circular dichroism study). (442127)
1979
47
Identifications of 5 beta-cholestane-3 alpha, 7 alpha, 12 alpha, 23 beta-tetrol, 5 beta-cholestane-3 alpha, 7 alpha, 12 alpha, 24 alpha-tetrol, and 5 beta-cholestane-3 alpha, 7 alpha, 12 alpha, 24 beta-tetrol in cerebrotendinous xanthomatosis. (663972)
1978
48
Absolute configuration of pentahydroxy bile alcohols excreted by patients with cerebrotendinous xanthomatosis: a circular dichroism study. (632682)
1978
49
Chenodeoxycholic acid inhibits increased cholesterol and cholestanol synthesis in patients with cerebrotendinous xanthomatosis. (1212241)
1975
50
Cholestanol deposition in cerebrotendinous xanthomatosis. A possible mechanism. (5134895)
1971

Variations for Cerebrotendinous Xanthomatosis

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Cerebrotendinous Xanthomatosis:

64
id Symbol AA change Variation ID SNP ID
1CYP27A1p.Arg395CysVAR_001303
2CYP27A1p.Arg479CysVAR_001304
3CYP27A1p.Arg395SerVAR_012285
4CYP27A1p.Arg405GlnVAR_012286
5CYP27A1p.Arg474GlnVAR_012287
6CYP27A1p.Arg474TrpVAR_012288
7CYP27A1p.Gly145GluVAR_016966

Clinvar genetic disease variations for Cerebrotendinous Xanthomatosis:

1 (show all 62)
id Gene Name Type Significance SNP ID Assembly Location
1CYP27A1NM_000784.3(CYP27A1): c.1435C> T (p.Arg479Cys)single nucleotide variantPathogenicrs72551322GRCh37Chr 2, 219679439: 219679439
2CYP27A1NM_000784.3(CYP27A1): c.1183C> T (p.Arg395Cys)single nucleotide variantPathogenicrs121908096GRCh37Chr 2, 219678909: 219678909
3CYP27A1NM_000784.3(CYP27A1): c.845-1G> Asingle nucleotide variantPathogenicrs397515353GRCh37Chr 2, 219677646: 219677646
4CYP27A1NM_000784.3(CYP27A1): c.844+1G> Asingle nucleotide variantPathogenicrs397515354GRCh37Chr 2, 219677473: 219677473
5CYP27A1NM_000784.3(CYP27A1): c.1421G> A (p.Arg474Gln)single nucleotide variantPathogenicrs121908097GRCh37Chr 2, 219679425: 219679425
6CYP27A1NM_000784.3(CYP27A1): c.1420C> T (p.Arg474Trp)single nucleotide variantPathogenicrs121908098GRCh37Chr 2, 219679424: 219679424
7CYP27A1NM_000784.3(CYP27A1): c.1214G> A (p.Arg405Gln)single nucleotide variantPathogenicrs121908099GRCh37Chr 2, 219679132: 219679132
8CYP27A1NM_000784.3(CYP27A1): c.1183C> A (p.Arg395Ser)single nucleotide variantPathogenicrs121908096GRCh37Chr 2, 219678909: 219678909
9CYP27A1NM_000784.3(CYP27A1): c.1263+1G> Asingle nucleotide variantPathogenicrs397515355GRCh37Chr 2, 219679182: 219679182
10CYP27A1NM_000784.3(CYP27A1): c.434G> A (p.Gly145Glu)single nucleotide variantPathogenicrs72551313GRCh37Chr 2, 219674478: 219674478
11CYP27A1NM_000784.3(CYP27A1): c.944_948delTGGCC (p.Leu315Glnfs)deletionPathogenicrs397515356GRCh37Chr 2, 219677746: 219677750
12CYP27A1NM_000784.3(CYP27A1): c.1016C> T (p.Thr339Met)single nucleotide variantPathogenicrs121908102GRCh37Chr 2, 219677818: 219677818
13CYP27A1NM_000784.3(CYP27A1): c.1435C> G (p.Arg479Gly)single nucleotide variantPathogenicrs72551322GRCh37Chr 2, 219679439: 219679439
14CYP27A1NM_000784.3(CYP27A1): c.1017G> C (p.Thr339=)single nucleotide variantPathogenicGRCh37Chr 2, 219677819: 219677819
15CYP27A1NM_000784.3(CYP27A1): c.1061A> G (p.Asp354Gly)single nucleotide variantPathogenicGRCh37Chr 2, 219678787: 219678787
16CYP27A1NM_000784.3: c.10_11 ins10bpinsertionPathogenic
17CYP27A1NM_000784.3: c.1146_1151delinsinsertionPathogenic
18CYP27A1NM_000784.3(CYP27A1): c.1151C> T (p.Pro384Leu)single nucleotide variantPathogenicGRCh37Chr 2, 219678877: 219678877
19CYP27A1NM_000784.3: c.1180-1181delCTdeletionPathogenic
20CYP27A1NM_000784.3(CYP27A1): c.1184+1G> Asingle nucleotide variantPathogenicGRCh37Chr 2, 219678911: 219678911
21CYP27A1NM_000784.3(CYP27A1): c.1184G> A (p.Arg395His)single nucleotide variantPathogenicGRCh37Chr 2, 219678910: 219678910
22CYP27A1NM_000784.3(CYP27A1): c.1185-1G> Tsingle nucleotide variantPathogenicGRCh37Chr 2, 219679102: 219679102
23CYP27A1NM_000784.3(CYP27A1): c.1202C> G (p.Pro401Arg)single nucleotide variantPathogenicGRCh37Chr 2, 219679120: 219679120
24CYP27A1NM_000784.3(CYP27A1): c.1209C> G (p.Asn403Lys)single nucleotide variantPathogenicGRCh37Chr 2, 219679127: 219679127
25CYP27A1NM_000784.3(CYP27A1): c.1213C> T (p.Arg405Trp)single nucleotide variantPathogenicGRCh37Chr 2, 219679131: 219679131
26CYP27A1NM_000784.3(CYP27A1): c.1222G> T (p.Glu408Ter)single nucleotide variantPathogenicGRCh37Chr 2, 219679140: 219679140
27CYP27A1NM_000784.3(CYP27A1): c.1238T> A (p.Val413Asp)single nucleotide variantPathogenicGRCh37Chr 2, 219679156: 219679156
28CYP27A1NM_000784.3(CYP27A1): c.1263+5G> Tsingle nucleotide variantPathogenicGRCh37Chr 2, 219679186: 219679186
29CYP27A1NM_000784.3: c.1263+81_1596+?deldeletionPathogenic
30CYP27A1NM_000784.3(CYP27A1): c.1264-1G> Asingle nucleotide variantPathogenicGRCh37Chr 2, 219679267: 219679267
31CYP27A1NM_000784.3: c.1323C> Tsingle nucleotide variantPathogenic
32CYP27A1NM_000784.3: c.1330-1333delTTCCdeletionPathogenic
33CYP27A1NM_000784.3(CYP27A1): c.1402C> T (p.Pro468Ser)single nucleotide variantPathogenicGRCh37Chr 2, 219679406: 219679406
34CYP27A1NM_000784.3(CYP27A1): c.1415G> C (p.Gly472Ala)single nucleotide variantPathogenicGRCh37Chr 2, 219679419: 219679419
35CYP27A1NM_000784.3(CYP27A1): c.305delC (p.Pro102Leufs)deletionPathogenicGRCh37Chr 2, 219674349: 219674349
36CYP27A1NM_000784.3(CYP27A1): c.355delC (p.Arg119Glyfs)deletionPathogenicGRCh37Chr 2, 219674399: 219674399
37CYP27A1NM_000784.3(CYP27A1): c.369_375delGTACCCA (p.Pro125Glyfs)deletionPathogenicGRCh37Chr 2, 219674413: 219674419
38CYP27A1NM_000784.3(CYP27A1): c.379C> T (p.Arg127Trp)single nucleotide variantPathogenicGRCh37Chr 2, 219674423: 219674423
39CYP27A1NM_000784.3(CYP27A1): c.380G> A (p.Arg127Gln)single nucleotide variantPathogenicGRCh37Chr 2, 219674424: 219674424
40CYP27A1NM_000784.3(CYP27A1): c.409C> T (p.Arg137Trp)single nucleotide variantPathogenicGRCh37Chr 2, 219674453: 219674453
41CYP27A1NM_000784.3(CYP27A1): c.433G> A (p.Gly145Arg)single nucleotide variantPathogenicGRCh37Chr 2, 219674477: 219674477
42CYP27A1NM_000784.3(CYP27A1): c.435G> T (p.Gly145=)single nucleotide variantPathogenicGRCh37Chr 2, 219674479: 219674479
43CYP27A1NM_000784.3(CYP27A1): c.446+1G> Asingle nucleotide variantPathogenicGRCh37Chr 2, 219674491: 219674491
44CYP27A1NM_000784.3(CYP27A1): c.475C> T (p.Gln159Ter)single nucleotide variantPathogenicGRCh37Chr 2, 219676973: 219676973
45CYP27A1NM_000784.3: c.525-526delGdeletionPathogenic
46CYP27A1NM_000784.3(CYP27A1): c.583G> T (p.Glu195Ter)single nucleotide variantPathogenicGRCh37Chr 2, 219677081: 219677081
47CYP27A1NM_000784.3: c.599C> Tsingle nucleotide variantPathogenic
48CYP27A1NM_000784.3(CYP27A1): c.5dupC (p.Ala3Cysfs)duplicationPathogenicGRCh37Chr 2, 219646910: 219646911
49CYP27A1NM_000784.3(CYP27A1): c.646G> C (p.Ala216Pro)single nucleotide variantPathogenicGRCh37Chr 2, 219677144: 219677144
50CYP27A1NM_000784.3(CYP27A1): c.647-1G> Tsingle nucleotide variantPathogenicGRCh37Chr 2, 219677274: 219677274
51CYP27A1NM_000784.3(CYP27A1): c.691C> T (p.Arg231Ter)single nucleotide variantPathogenicGRCh37Chr 2, 219677319: 219677319
52CYP27A1NM_000784.3(CYP27A1): c.73delG (p.Ala25Profs)deletionPathogenicGRCh37Chr 2, 219646978: 219646978
53CYP27A1NM_000784.3(CYP27A1): c.745C> T (p.Gln249Ter)single nucleotide variantPathogenicGRCh37Chr 2, 219677373: 219677373
54CYP27A1NM_000784.3(CYP27A1): c.752C> A (p.Ser251Ter)single nucleotide variantPathogenicGRCh37Chr 2, 219677380: 219677380
55CYP27A1NM_000784.3(CYP27A1): c.776A> G (p.Lys259Arg)single nucleotide variantPathogenicGRCh37Chr 2, 219677404: 219677404
56CYP27A1NM_000784.3(CYP27A1): c.779G> A (p.Trp260Ter)single nucleotide variantPathogenicGRCh37Chr 2, 219677407: 219677407
57CYP27A1NM_000784.3(CYP27A1): c.808C> T (p.Arg270Ter)single nucleotide variantPathogenicGRCh37Chr 2, 219677436: 219677436
58CYP27A1NM_000784.3(CYP27A1): c.819delT (p.Asp273Glufs)deletionPathogenicGRCh37Chr 2, 219677447: 219677447
59CYP27A1NM_000784.3(CYP27A1): c.850A> T (p.Lys284Ter)single nucleotide variantPathogenicGRCh37Chr 2, 219677652: 219677652
60CYP27A1NM_000784.3(CYP27A1): c.863delA (p.Glu288Glyfs)deletionPathogenicGRCh37Chr 2, 219677665: 219677665
61CYP27A1NM_000784.3(CYP27A1): c.410G> A (p.Arg137Gln)single nucleotide variantPathogenicGRCh37Chr 2, 219674454: 219674454
62CYP27A1NP_000775.1: p.Trp133*undetermined variantPathogenic

Expression for genes affiliated with Cerebrotendinous Xanthomatosis

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Cerebrotendinous Xanthomatosis

Search GEO for disease gene expression data for Cerebrotendinous Xanthomatosis.

Pathways for genes affiliated with Cerebrotendinous Xanthomatosis

About this section
Sources:
50PathCards, 55Reactome, 30KEGG, 38NCBI BioSystems Database, 51PharmGKB, 60Thomson Reuters, 12EMD Millipore
See all sources

Pathways related to Cerebrotendinous Xanthomatosis according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9CYP7A1, CYP27A1
29.9CYP27A1, CYP27B1
3
Show member pathways
Cholesterol biosynthesis38
lanosterol biosynthesis38
zymosterol biosynthesis38
mevalonate pathway I38
epoxysqualene biosynthesis38
cholesterol biosynthesis II (via 24,25-dihydrolanosterol)38
superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)38
trans, trans-farnesyl diphosphate biosynthesis38
cholesterol biosynthesis I38
cholesterol biosynthesis III (via desmosterol)38
geranylgeranyldiphosphate biosynthesis38
9.9HMGCR, CYP27B1
49.8NR1H4, CYP7A1
5
Show member pathways
9.6CYP27A1, CYP7A1, CYP27B1
6
Show member pathways
9.6CYP27B1, CYP7A1, CYP27A1
79.5CYP7A1, CYP27B1, NR1H4
89.5CYP7A1, NR1H4, HMGCR
99.5APOA1, SP1
10
Show member pathways
fatty acid beta-oxidation VI (peroxisome)38
9.5APOA1, CYP7A1, CYP27A1
11
Show member pathways
9.4APOB, APOA1
12
Show member pathways
9.4APOB, APOA1
139.4APOB, APOA1
14
Show member pathways
FOXA transcription factor networks38
9.3SP1, APOB
15
Show member pathways
9.2HMGCR, NR1H2, SP1
169.0NR1H4, APOB, APOA1
17
Show member pathways
8.9SP1, CYP7A1, APOA1, HMGCR
18
Show member pathways
8.8HMGCR, APOB, APOA1, CYP7A1
19
Show member pathways
6.9SP1, CYP27A1, CYP7A1, CYP27B1, APOA1, APOB

Compounds for genes affiliated with Cerebrotendinous Xanthomatosis

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Sources:
45Novoseek, 61Tocris Bioscience, 11DrugBank, 29IUPHAR, 24HMDB, 51PharmGKB, 3BitterDB
See all sources

Compounds related to Cerebrotendinous Xanthomatosis according to GeneCards/GeneDecks:

(show top 50)    (show all 147)
idCompoundScoreTop Affiliating Genes
124s-hydroxy-cholesterol459.9CYP27A1, CYP7A1, HMGCR
2alfacalcidol45 61 1111.7CYP27A1, CYP27B1, CALCA
37alpha-hydroxy-4-cholesten-3-one459.6CYP27A1, CYP7A1, NR1H2, HMGCR
427-hydroxycholesterol45 2910.6CYP27A1, NR1H2, HMGCR, CYP7A1
5sitosterol459.6HMGCR, APOB, CYP7A1
6cholestyramine459.5APOB, CYP7A1, HMGCR
7bile acid459.5HMGCR, NR1H2, NR1H4, CYP7A1
8lathosterol45 2410.5HMGCR, CYP7A1, APOB
9colestipol459.5APOB, APOA1, HMGCR
10ursodeoxycholic acid45 24 1111.4HMGCR, NR1H2, NR1H4, CYP7A1
11lithocholic acid45 29 2411.4CYP7A1, NR1H2, NR1H4
12campesterol45 2410.4HMGCR, APOA1, APOB
13fenofibric acid45 2910.4APOB, HMGCR, APOA1
14acipimox45 2910.3HMGCR, APOA1, APOB
157-ketocholesterol45 2410.2APOB, HMGCR, CYP27A1, APOA1
16cholesterol ester459.2HMGCR, CYP7A1, APOA1, APOB
17bezafibrate45 29 1111.2APOB, HMGCR, APOA1, CYP7A1
18ciprofibrate45 2910.1APOA1, APOB, HMGCR, NR1H2
19tocopherol459.1APOB, HMGCR, NR1H2, APOA1
20ezetimibe45 1110.1HMGCR, NR1H2, APOA1, APOB
21pravastatin45 51 29 24 1113.0HMGCR, APOB, CYP7A1, APOA1
22fenofibrate45 51 1111.0NR1H2, APOA1, APOB, HMGCR
23probucol45 1110.0HMGCR, APOB, APOA1
24tibolone458.9CALCA, APOB, APOA1
25atorvastatin45 51 29 24 1112.9APOA1, CYP7A1, APOB, HMGCR
26kininogen458.9NR1H4, APOB, NR1H2, APOA1
27retinoid458.9CYP27A1, SP1, NR1H4, NR1H2, CYP27B1
28alpha tocopherol458.8HMGCR, APOA1, APOB, NR1H2
2922r-hydroxycholesterol45 299.8NR1H2, APOA1, FDX1, NR1H4
30simvastatin45 51 61 29 24 1113.7HMGCR, APOB, APOA1, CYP27A1, SP1
31chenodeoxycholic acid45 29 24 1111.6APOB, CYP7A1, NR1H4, NR1H2, HMGCR, CYP27A1
32prostacyclin458.6SP1, HMGCR, NR1H2, APOA1, CYP7A1, CYP27A1
3325-hydroxyvitamin d458.5CYP27B1, CALCA, FDX1, APOA1, CYP27A1
34thyroxine45 249.5HMGCR, NR1H2, CALCA, APOB, APOA1
35progestin458.5APOA1, SP1, NR1H2, FDX1
36calcitriol45 61 24 1111.5CALCA, CYP27B1, CYP27A1, NR1H4, NR1H2, SP1
37vitamin d458.5NR1H4, CALCA, CYP27B1, CYP27A1, SP1, NR1H2
38taurocholate458.5NR1H2, APOB, NR1H4, APOA1, CYP7A1, HMGCR
39genistein45 29 61 3 24 1113.3NR1H2, CYP27B1, SP1, APOB, APOA1
40pge2458.3APOA1, CALCA, SP1, NR1H2, CYP27B1
41nadph45 249.2HMGCR, CYP27A1, CYP27B1, CYP7A1, FDX1
42retinoic acid45 249.2APOA1, CYP27B1, CYP7A1, SP1, CYP27A1, NR1H4
431,25 dihydroxy vitamin d3458.1CALCA, FDX1, CYP27B1, CYP27A1, NR1H2, SP1
44steroid457.9CYP27B1, CYP7A1, SP1, CYP27A1, FDX1, NR1H4
45estrogen457.4APOA1, SP1, CYP7A1, NR1H4, CALCA, APOB
46cholesterol45 29 24 1110.1APOA1, APOB, FDX1, NR1H4, NR1H2, HMGCR
47lipid457.0NR1H4, FDX1, APOA1, NR1H2, HMGCR, APOB
48testosterone45 61 24 119.9CYP27B1, APOA1, NR1H2, CALCA, FDX1, APOB
49sterol456.8NR1H2, FDX1, APOA1, HMGCR, NR1H4, APOB
50dexamethasone45 51 29 119.8NR1H2, APOA1, CYP7A1, CYP27A1, SP1, APOB

GO Terms for genes affiliated with Cerebrotendinous Xanthomatosis

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Sources:
16Gene Ontology
See all sources

Cellular components related to Cerebrotendinous Xanthomatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1very-low-density lipoprotein particleGO:0343619.4APOB, APOA1
2endocytic vesicle lumenGO:0716829.1APOB, APOA1

Biological processes related to Cerebrotendinous Xanthomatosis according to GeneCards/GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1regulation of bile acid biosynthetic processGO:07085710.1NR1H4, CYP7A1
2sterol metabolic processGO:01612510.1CYP7A1, CYP27A1
3bile acid biosynthetic processGO:00669910.0CYP7A1, CYP27A1
4bile acid metabolic processGO:0082069.8CYP27A1, CYP7A1, NR1H4
5xenobiotic metabolic processGO:0068059.7CYP27A1, CYP7A1, CYP27B1
6endothelial cell proliferationGO:0019359.7APOA1, CALCA
7positive regulation of lipid storageGO:0108849.7NR1H2, APOB
8lipoprotein biosynthetic processGO:0421589.7APOA1, APOB
9cholesterol transportGO:0303019.6APOB, APOA1
10response to lipopolysaccharideGO:0324969.4NR1H4, APOB, CYP27B1
11cholesterol biosynthetic processGO:0066959.4HMGCR, APOA1
12lipoprotein metabolic processGO:0421579.4APOB, APOA1
13cholesterol effluxGO:0333449.3APOA1, APOB
14transcription initiation from RNA polymerase II promoterGO:0063679.2NR1H2, NR1H4, SP1
15cholesterol homeostasisGO:0426329.0CYP7A1, APOA1, APOB, NR1H2
16cellular lipid metabolic processGO:0442558.8HMGCR, NR1H2, APOA1, CYP7A1, SP1
17cholesterol metabolic processGO:0082038.6FDX1, APOB, APOA1, CYP27A1
18small molecule metabolic processGO:0442817.2SP1, CYP27A1, CYP7A1, CYP27B1, APOA1, APOB

Molecular functions related to Cerebrotendinous Xanthomatosis according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1heme bindingGO:0200379.7CYP27B1, CYP7A1, CYP27A1
2retinoid X receptor bindingGO:0469659.7NR1H2, NR1H4
3steroid hormone receptor activityGO:0037079.7NR1H2, NR1H4
4cholesterol transporter activityGO:0171279.5APOA1, APOB
5ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activityGO:0048799.4NR1H2, NR1H4
6iron ion bindingGO:0055069.0FDX1, CYP27B1, CYP7A1, CYP27A1
7protein bindingGO:0055156.8SP1, APOA1, APOB, FLNC, CALCA, NR1H4

Products for genes affiliated with Cerebrotendinous Xanthomatosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cerebrotendinous Xanthomatosis

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet