CTX
MCID: CRB011
MIFTS: 64

Cerebrotendinous Xanthomatosis (CTX)

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

Aliases & Classifications for Cerebrotendinous Xanthomatosis

MalaCards integrated aliases for Cerebrotendinous Xanthomatosis:

Name: Cerebrotendinous Xanthomatosis 57 12 25 20 43 58 72 36 13 15
Ctx 57 20 43 58 72
Cholestanol Storage Disease 12 43 29 6
Cerebral Cholesterinosis 57 20 43 72
Xanthomatosis, Cerebrotendinous 44 39 70
Sterol 27-Hydroxylase Deficiency 20 58
Xanthomatosis Cerebrotendinous 73 54
Van Bogaert-Scherer-Epstein Disease 43
Cerebrotendinous Cholesterinosis 43
Cholestanolosis 43

Characteristics:

Orphanet epidemiological data:

58
cerebrotendinous xanthomatosis
Inheritance: Autosomal recessive; Prevalence: 1-9/100000,<1/1000000 (Spain),1-9/100000 (United States); Age of onset: Infancy,Neonatal; Age of death: adult;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
cerebrotendinous xanthomatosis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare hepatic diseases
Rare skin diseases
Inborn errors of metabolism
Rare endocrine diseases


Summaries for Cerebrotendinous Xanthomatosis

MedlinePlus Genetics : 43 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).People with cerebrotendinous xanthomatosis often develop neurological problems in early adulthood that are thought to be caused by an abnormal accumulation of fats and an increasing number of xanthomas in the brain. These neurological problems include recurrent seizures (epilepsy), movement disorders, impaired speech (dysarthria), loss of sensation in the arms and legs (peripheral neuropathy), decline in intellectual function (dementia), hallucinations, and depression. Xanthomas can accumulate in the fatty substance that insulates and protects nerves (myelin), causing the destruction of myelin and disrupting nerve signaling in the brain. Degeneration (atrophy) of brain tissue caused by excess lipid deposits also contributes to the neurological problems.Xanthomas in the tendons begin to form in early adulthood. The most common areas for xanthomas to develop are tendons in the hands, elbows, knees, neck, and in the Achilles tendon, which connects the heel of the foot to the calf muscles in the leg. Tendon xanthomas may cause discomfort and interfere with tendon flexibility. While many affected people develop tendon xanthomas, these nodules may not be easily visible underneath the skin.Other features of cerebrotendinous xanthomatosis include clouding of the lenses of the eyes (cataracts) and chronic diarrhea in childhood; a reduced ability to produce and release a digestive fluid called bile (cholestasis), which can lead to a yellowing of the skin or whites of the eyes (jaundice); and progressively brittle bones that are prone to fracture (osteoporosis). People with cerebrotendinous xanthomatosis are also at an increased risk of developing cardiovascular disease or respiratory failure because of lipid accumulation in the heart or lungs, respectively. If untreated, the signs and symptoms related to cerebrotendinous xanthomatosis worsen over time; however, this condition varies greatly among those who are affected.

MalaCards based summary : Cerebrotendinous Xanthomatosis, also known as ctx, is related to lipid storage disease and sitosterolemia, and has symptoms including angina pectoris, muscle spasticity and cerebellar ataxia. An important gene associated with Cerebrotendinous Xanthomatosis is CYP27A1 (Cytochrome P450 Family 27 Subfamily A Member 1), and among its related pathways/superpathways are Primary bile acid biosynthesis and PPAR signaling pathway. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and spinal cord, and related phenotypes are intellectual disability and cataract

Disease Ontology : 12 A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has material basis in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma.

GARD : 20 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 Q 10 and surgery to remove cataracts.

OMIM® : 57 Cerebrotendinous xanthomatosis is a rare inherited lipid-storage disease characterized clinically by progressive neurologic dysfunction (cerebellar ataxia beginning after puberty, systemic spinal cord involvement and a pseudobulbar phase leading to death), premature atherosclerosis, and cataracts. Large deposits of cholesterol and cholestanol are found in virtually every tissue, particularly the Achilles tendons, brain, and lungs. Cholestanol, the 5-alpha-dihydro derivative of cholesterol, is enriched relative to cholesterol in all tissues. The diagnosis can be made by demonstrating cholestanol in abnormal amounts in the serum and tendon of persons suspected of being affected. Plasma cholesterol concentrations are low normal in CTX patients. Dotti et al. (2001) examined the ophthalmologic findings of 13 CTX patients. In addition to cataracts, which were found in all cases, optic disc pallor was identified in 6 of the patients. Premature retinal senescence was also observed. In a tabular presentation, Moghadasian et al. (2002) compared and contrasted CTX with 2 other lipid disorders with certain similarities and clinical course: familial hypercholesterolemia (see 143890) and sitosterolemia (see 210250). (213700) (Updated 20-May-2021)

KEGG : 36 Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid-storage disorder caused by deficient activity of CYP27A1 and characterized by formation of xanthomatous lesions in many tissues, particularly the brain, the lens of the eye, and tendons.

UniProtKB/Swiss-Prot : 72 Cerebrotendinous xanthomatosis: Rare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts.

Wikipedia : 73 Cerebrotendinous xanthomatosis also called cerebral cholesterosis, is an autosomal recessive form of... more...

GeneReviews: NBK1409

Related Diseases for Cerebrotendinous Xanthomatosis

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

(show top 50) (show all 282)
# Related Disease Score Top Affiliating Genes
1 lipid storage disease 31.4 NR1H4 CYP7A1 CYP27A1
2 sitosterolemia 30.7 HMGCR CYP7A1 CYP27A1
3 hypercholesterolemia, familial, 1 30.6 NR1H4 HMGCR CYP7A1
4 rickets 30.5 CYP3A4 CYP27B1 CYP27A1
5 xanthomatosis 30.3 VCL NR1I2 NR1H4 NR1H3 HNF4A HMGCR
6 smith-lemli-opitz syndrome 30.1 HMGCR CYP27A1 CRYAA
7 inherited metabolic disorder 30.1 NR1H4 HMGCR CRYAA
8 vitamin d-dependent rickets 30.0 FDX1 CYP3A4 CYP27B1 CYP27A1
9 liver disease 29.7 NR1I2 NR1H4 NR1H3 HSD3B7 CYP3A4
10 cholestasis 29.4 NR1I2 NR1H4 NR1H2 HSD3B7 HNF4A CYP7A1
11 leukodystrophy 11.3
12 bile acid synthesis defect, congenital, 1 11.2
13 congenital toxoplasmosis 11.2
14 cataract 11.0
15 ataxia and polyneuropathy, adult-onset 10.8
16 neuropathy 10.8
17 peripheral nervous system disease 10.8
18 autosomal recessive disease 10.8
19 diarrhea 10.7
20 acute cystitis 10.7
21 parkinsonism 10.7
22 cholera 10.6
23 urinary tract infection 10.6
24 polyneuropathy 10.6
25 spastic paraparesis 10.6
26 bone resorption disease 10.5
27 alacrima, achalasia, and mental retardation syndrome 10.5
28 spasticity 10.5
29 disorder of bile acid synthesis 10.5
30 cerebral atrophy 10.5
31 dystonia 10.4
32 48,xyyy 10.4
33 osteoarthritis 10.4
34 suppressor of tumorigenicity 11 10.4
35 osteonecrosis 10.4
36 paraplegia 10.4
37 tremor 10.4
38 ciguatera fish poisoning 10.3
39 osteoporosis 10.3
40 bone mineral density quantitative trait locus 8 10.3
41 bone mineral density quantitative trait locus 15 10.3
42 epilepsy 10.3
43 arteriosclerosis 10.3
44 movement disease 10.3
45 myoclonus 10.3
46 neurometabolic disease 10.3
47 gastroenteritis 10.3
48 malignant choroid melanoma 10.3 CYP27B1 CYP27A1
49 bone disease 10.3
50 functional diarrhea 10.3 NR1H4 CYP7A1

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



Diseases related to Cerebrotendinous Xanthomatosis

Symptoms & Phenotypes for Cerebrotendinous Xanthomatosis

Human phenotypes related to Cerebrotendinous Xanthomatosis:

58 31 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 cataract 58 31 hallmark (90%) Very frequent (99-80%) HP:0000518
3 myoclonus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001336
4 abnormality of vision 58 31 hallmark (90%) Very frequent (99-80%) HP:0000504
5 xanthelasma 58 31 hallmark (90%) Very frequent (99-80%) HP:0001114
6 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
7 hyperreflexia 58 31 frequent (33%) Frequent (79-30%) HP:0001347
8 neurological speech impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002167
9 abnormal pyramidal sign 58 31 frequent (33%) Frequent (79-30%) HP:0007256
10 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
11 tremor 58 31 frequent (33%) Frequent (79-30%) HP:0001337
12 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
13 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
14 hallucinations 58 31 frequent (33%) Frequent (79-30%) HP:0000738
15 myocardial infarction 58 31 frequent (33%) Frequent (79-30%) HP:0001658
16 angina pectoris 58 31 frequent (33%) Frequent (79-30%) HP:0001681
17 hypercholesterolemia 58 31 frequent (33%) Frequent (79-30%) HP:0003124
18 abnormality of extrapyramidal motor function 58 31 frequent (33%) Frequent (79-30%) HP:0002071
19 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
20 peripheral neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0009830
21 atherosclerosis 58 31 frequent (33%) Frequent (79-30%) HP:0002621
22 abnormality of the periventricular white matter 58 31 frequent (33%) Frequent (79-30%) HP:0002518
23 eeg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0002353
24 cerebral calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0002514
25 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001387
26 malabsorption 58 31 occasional (7.5%) Occasional (29-5%) HP:0002024
27 nephrolithiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000787
28 joint dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001373
29 cholestasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001396
30 diarrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002014
31 seizure 31 occasional (7.5%) HP:0001250
32 seizures 58 Occasional (29-5%)
33 ataxia 31 HP:0001251
34 respiratory insufficiency 31 HP:0002093
35 behavioral abnormality 58 Frequent (79-30%)
36 osteoporosis 31 HP:0000939
37 cholelithiasis 31 HP:0001081
38 abnormality of the eye 58 Very frequent (99-80%)
39 optic disc pallor 31 HP:0000543
40 cerebellar atrophy 31 HP:0001272
41 cerebral atrophy 31 HP:0002059
42 dementia 31 HP:0000726
43 xanthomatosis 58 Very frequent (99-80%)
44 abnormality of cholesterol metabolism 58 Frequent (79-30%)
45 abnormality of the dentate nucleus 31 HP:0100321
46 pseudobulbar paralysis 31 HP:0007024
47 tendon xanthomatosis 31 HP:0010874
48 eeg with generalized slow activity 31 HP:0010845
49 delusions 31 HP:0000746
50 emg: axonal abnormality 31 HP:0003482

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
dementia
pseudobulbar paralysis
cerebellar ataxia
mental retardation
more
Skeletal:
osteoporosis

Neurologic Peripheral Nervous System:
peripheral neuropathy

Head And Neck Eyes:
juvenile cataracts

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

Respiratory Lung:
respiratory insufficiency

Cardiovascular Heart:
myocardial infarction
angina

Skin Nails Hair Skin:
xanthelasma
tuberous xanthoma

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

Clinical features from OMIM®:

213700 (Updated 20-May-2021)

UMLS symptoms related to Cerebrotendinous Xanthomatosis:


angina pectoris; muscle spasticity; cerebellar ataxia

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

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.18 NR1I2
2 Decreased viability GR00221-A-2 10.18 NR1H4 NR1I2
3 Decreased viability GR00221-A-4 10.18 NR1H4
4 Decreased viability GR00240-S-1 10.18 NR1H2
5 Decreased viability GR00249-S 10.18 CRYAA CYP7B1 HSD3B7 NR1H2 NR1H4 SP1
6 Decreased viability GR00301-A 10.18 NR1I2
7 Decreased viability GR00381-A-1 10.18 CALCA HSD3B7
8 Decreased viability GR00386-A-1 10.18 HNF4A HSD3B7 NR1H2
9 Decreased viability GR00402-S-2 10.18 CRYAA NR1H2 SP1
10 Reduced mammosphere formation GR00396-S 9.28 CYP27B1 CYP46A1 FLNC HMGCR HNF4A HSD3B7
11 Increased the percentage of infected cells GR00402-S-1 8.65 FDX1

MGI Mouse Phenotypes related to Cerebrotendinous Xanthomatosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10 CYP27A1 CYP27B1 CYP46A1 CYP7A1 CYP7B1 FLNC
2 cardiovascular system MP:0005385 9.96 CYP27A1 CYP7A1 FDX1 FLNC HNF4A NR1H2
3 liver/biliary system MP:0005370 9.65 CYP27A1 CYP7A1 HMGCR HNF4A HSD3B7 NR1H2
4 mortality/aging MP:0010768 9.44 CYP7A1 CYP7B1 FDX1 FLNC HMGCR HNF4A

Drugs & Therapeutics for Cerebrotendinous Xanthomatosis

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 3 1401-55-4
2
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
3
Lovastatin Approved, Investigational Phase 2 75330-75-5 53232
4 Lipid Regulating Agents Phase 2
5 Anticholesteremic Agents Phase 2
6 Antimetabolites Phase 2
7 Dihydromevinolin Phase 2
8 Hypolipidemic Agents Phase 2
9 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 2
10 L 647318 Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 3 Study to Evaluate the Effects of Chenodeoxycholic Acid in Adult and Pediatric Patients With Cerebrotendinous Xanthomatosis Recruiting NCT04270682 Phase 3 Blinded CDCA 250 mg TID;Placebo;Open-Label CDCA 250 mg TID;Rescue Medication CDCA 250 mg TID;CDCA Weight-Based Dose TID
2 Effects of Diet and Medication in Patients With Cerebrotendinous Xanthomatosis (CTX) Unknown status NCT00004346 Phase 2 chenodeoxycholic acid;lovastatin
3 An Observational, Multicenter Study of the Prevalence of Cerebrotendinous Xanthomatosis (CTX) in Patient Populations Diagnosed With Early-Onset Idiopathic Bilateral Cataracts Unknown status NCT02638220
4 Evaluation of Carotid IMT and Atherogenic Risk Factors in Patients With Cerebrotendinous Xanthomatosis Unknown status NCT01613898
5 An Observational Study With Retrospective and Prospective Evaluations to Determine the Prevalence of Cerebrotendinous Xanthomatosis (CTX) Disorder in Juvenile Cataract Cases in Turkey Recruiting NCT03584893
6 A Study on the Prevalence of Mutation of Cerebrotendinous Xanthomatosis (CTX) in Families With Kinship Bonds and at Least One Homozygous Patient Enrolling by invitation NCT04218006
7 An Epidemiological Observational Study for Retrospective and Prospective Evaluation of for the Prevalence of Cerebrotendinous Xanthomatosis (CTX) Disease in Neurology and Pediatric Metabolism Clinics in Turkey Suspended NCT04113083
8 Biologic Significance of Cholestanol in Man 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:

# Genetic test Affiliating Genes
1 Cholestanol Storage Disease 29 CYP27A1

Anatomical Context for Cerebrotendinous Xanthomatosis

MalaCards organs/tissues related to Cerebrotendinous Xanthomatosis:

40
Brain, Eye, Spinal Cord, Liver, Bone, Heart, Myeloid

Publications for Cerebrotendinous Xanthomatosis

Articles related to Cerebrotendinous Xanthomatosis:

(show top 50) (show all 695)
# Title Authors PMID Year
1
Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis. 61 25 6 57
10430841 1999
2
Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. 25 6 57 61
2019602 1991
3
The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene. 61 54 6 57
18227423 2008
4
Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype. 57 6 54 61
16278884 2005
5
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene. 61 54 25 6
16816916 2006
6
Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis. 61 57 6
12555943 2002
7
Polyneuropathy in cerebrotendinous xanthomatosis and response to treatment with chenodeoxycholic acid. 25 6 61
22878431 2013
8
Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis. 6 25 61
21764626 2012
9
Cerebrotendinous xanthomatosis in Spain: clinical, prognostic, and genetic survey. 61 6 25
21645175 2011
10
Cerebrotendinous xanthomatosis: molecular characterization of two Scandinavian sisters. 61 25 6
12270007 2002
11
Cerebrotendinous xanthomatosis: heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings. 61 25 57
11804206 2001
12
Frontal lobe dementia with abnormal cholesterol metabolism and heterozygous mutation in sterol 27-hydroxylase gene (CYP27). 61 25 57
11486904 2001
13
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. 25 6 61
10775536 2000
14
Cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease): CT and MR findings. 61 25 57
7847220 1994
15
Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin. 6 25 61
8514861 1993
16
Juvenile cataract associated with chronic diarrhea in pediatric cerebrotendinous xanthomatosis. 61 57 25
1951610 1991
17
Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. 61 25 57
6504105 1984
18
Familial cerebrotendinous xanthomatosis. Report of a new family and review of the literature. 61 25 57
1124985 1975
19
Cholestanolosis (cerebrotendinous xanthomatosis). A follow-up study on the original family. 25 61 57
5355255 1969
20
Cerebrotendinous xanthomatosis. Clinical and pathological studies. 25 61 57
5652996 1968
21
A Japanese patient with cerebrotendinous xanthomatosis has different mutations within two functional domains of CYP27. 54 61 6
11903362 2002
22
Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis. 54 61 6
10519880 1999
23
Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism. 6 61 54
10406988 1999
24
A novel Arg362Ser mutation in the sterol 27-hydroxylase gene (CYP27): its effects on pre-mRNA splicing and enzyme activity. 54 6 61
9790667 1998
25
Four novel mutations of sterol 27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis. 61 6 54
9392430 1997
26
Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis. 54 6 61
9254865 1997
27
Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families. 6 61 54
9186905 1997
28
Genetic analysis of a Japanese cerebrotendinous xanthomatosis family: identification of a novel mutation in the adrenodoxin binding region of the CYP 27 gene. 6 61 54
8950197 1996
29
Cerebrotendinous xanthomatosis: a family study of sterol 27-hydroxylase mutations and pharmacotherapy. 61 6 54
8730343 1996
30
Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis. 61 6
31796091 2019
31
Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis. 61 6
28894950 2018
32
Unique case of cerebrotendinous xanthomatosis revisited: All the mutations responsible for this disease are present in the CYP27A1 gene. 61 6
29095540 2018
33
Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene. 61 6
29434128 2018
34
Prominent Tendon Xanthomas and Abdominal Aortic Aneurysm Associated with Cerebrotendinous Xanthomatosis Identified Using Whole Exome Sequencing. 61 6
29269672 2018
35
Nationwide survey on cerebrotendinous xanthomatosis in Japan. 61 6
29321515 2018
36
Clinical and molecular genetic features of cerebrotendinous xanthomatosis patients in Chinese families. 61 6
28623566 2017
37
Bilateral Femoral Neck Fractures in Cerebrotendinous Xanthomatosis Treated by Hip Arthroplasties: The First Case Report and Literature Review. 6 61
29242796 2017
38
Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment. 61 6
28590052 2017
39
Cerebrotendinous Xanthomatosis Presenting with Infantile Spasms and Intellectual Disability. 6 61
27858369 2017
40
Spinal form cerebrotendinous xanthomatosis patient with long spinal cord lesion. 6 61
25941960 2016
41
Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports. 61 6
27225395 2016
42
Tendon xanthomas: Not always familial hypercholesterolemia. 6 61
27678445 2016
43
[Analysis of a cerebrotendinous xanthomatosis case with mental retardation as the initial symptom]. 6 61
27455001 2016
44
Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood. 6 61
27084087 2016
45
Cerebrotendinous Xanthomatosis: A Treatable Genetic Disease Not to Be Missed. 6 61
26906304 2016
46
Late-onset spinal form xanthomatosis without brain lesion: a case report. 6 61
26861945 2016
47
Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment. 61 6
26156051 2016
48
Cerebellar hypometabolism with normal structural findings in Cerebrotendinous xanthomatosis. A case report. 61 6
26519892 2015
49
Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population. 6 61
26937392 2015
50
Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis. 61 6
25983621 2015

Variations for Cerebrotendinous Xanthomatosis

ClinVar genetic disease variations for Cerebrotendinous Xanthomatosis:

6 (show top 50) (show all 230)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYP27A1 NM_000784.4(CYP27A1):c.434G>A (p.Gly145Glu) SNV Pathogenic 4264 rs72551313 GRCh37: 2:219674478-219674478
GRCh38: 2:218809755-218809755
2 CYP27A1 NC_000002.12:g.(?_218809567)_(218809777_?)del Deletion Pathogenic 832296 GRCh37: 2:219674290-219674500
GRCh38:
3 CYP27A1 NM_000784.4(CYP27A1):c.819del (p.Asp273fs) Deletion Pathogenic 65903 rs587778812 GRCh37: 2:219677447-219677447
GRCh38: 2:218812724-218812724
4 CYP27A1 NM_000784.4(CYP27A1):c.779G>A (p.Trp260Ter) SNV Pathogenic 65899 rs587778810 GRCh37: 2:219677407-219677407
GRCh38: 2:218812684-218812684
5 CYP27A1 NM_000784.4(CYP27A1):c.752C>A (p.Ser251Ter) SNV Pathogenic 65896 rs587778808 GRCh37: 2:219677380-219677380
GRCh38: 2:218812657-218812657
6 CYP27A1 NM_000784.4(CYP27A1):c.355del (p.Arg119fs) Deletion Pathogenic 65861 rs587778793 GRCh37: 2:219674399-219674399
GRCh38: 2:218809676-218809676
7 CYP27A1 NM_000784.4(CYP27A1):c.305del (p.Pro102fs) Deletion Pathogenic 65856 rs587778790 GRCh37: 2:219674348-219674348
GRCh38: 2:218809625-218809625
8 CYP27A1 NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala) SNV Pathogenic 65851 rs200883871 GRCh37: 2:219679419-219679419
GRCh38: 2:218814696-218814696
9 CYP27A1 NM_000784.4(CYP27A1):c.1402C>T (p.Pro468Ser) SNV Pathogenic 65850 rs587778787 GRCh37: 2:219679406-219679406
GRCh38: 2:218814683-218814683
10 CYP27A1 NM_000784.4(CYP27A1):c.1264-1G>A SNV Pathogenic 65844 rs587778785 GRCh37: 2:219679267-219679267
GRCh38: 2:218814544-218814544
11 CYP27A1 NM_000784.4(CYP27A1):c.1263+5G>T SNV Pathogenic 65841 rs587778784 GRCh37: 2:219679186-219679186
GRCh38: 2:218814463-218814463
12 CYP27A1 NM_000784.4(CYP27A1):c.1238T>A (p.Val413Asp) SNV Pathogenic 65840 rs587778783 GRCh37: 2:219679156-219679156
GRCh38: 2:218814433-218814433
13 CYP27A1 NM_000784.4(CYP27A1):c.1222G>T (p.Glu408Ter) SNV Pathogenic 65839 rs587778782 GRCh37: 2:219679140-219679140
GRCh38: 2:218814417-218814417
14 CYP27A1 NM_000784.4(CYP27A1):c.73del (p.Ala25fs) Deletion Pathogenic 65894 rs587778807 GRCh37: 2:219646975-219646975
GRCh38: 2:218782252-218782252
15 CYP27A1 NM_000784.4(CYP27A1):c.691C>T (p.Arg231Ter) SNV Pathogenic 65891 rs72551315 GRCh37: 2:219677319-219677319
GRCh38: 2:218812596-218812596
16 CYP27A1 NM_000784.4(CYP27A1):c.647-1G>T SNV Pathogenic 65886 rs587778804 GRCh37: 2:219677274-219677274
GRCh38: 2:218812551-218812551
17 CYP27A1 NM_000784.4(CYP27A1):c.583G>T (p.Glu195Ter) SNV Pathogenic 65878 rs587778800 GRCh37: 2:219677081-219677081
GRCh38: 2:218812358-218812358
18 CYP27A1 NM_000784.4(CYP27A1):c.373_379del (p.Pro125fs) Deletion Pathogenic 65864 rs587778794 GRCh37: 2:219674412-219674418
GRCh38: 2:218809689-218809695
19 CYP27A1 NM_000784.4(CYP27A1):c.1202C>G (p.Pro401Arg) SNV Pathogenic 65836 rs587778780 GRCh37: 2:219679120-219679120
GRCh38: 2:218814397-218814397
20 CYP27A1 NM_000784.4(CYP27A1):c.1185-1G>T SNV Pathogenic 65835 rs587778779 GRCh37: 2:219679102-219679102
GRCh38: 2:218814379-218814379
21 CYP27A1 NM_000784.4(CYP27A1):c.1061A>G (p.Asp354Gly) SNV Pathogenic 65827 rs72551320 GRCh37: 2:219678787-219678787
GRCh38: 2:218814064-218814064
22 CYP27A1 NM_000784.4(CYP27A1):c.1017G>C (p.Thr339=) SNV Pathogenic 65825 rs200553205 GRCh37: 2:219677819-219677819
GRCh38: 2:218813096-218813096
23 CYP27A1 NM_000784.4(CYP27A1):c.1064del (p.Pro355fs) Deletion Pathogenic 642850 rs1575206688 GRCh37: 2:219678788-219678788
GRCh38: 2:218814065-218814065
24 CYP27A1 NM_000784.4(CYP27A1):c.399G>A (p.Trp133Ter) SNV Pathogenic 65999 rs1160640803 GRCh37: 2:219674443-219674443
GRCh38: 2:218809720-218809720
25 CYP27A1 NM_000784.4(CYP27A1):c.863del (p.Glu288fs) Deletion Pathogenic 65910 rs587778815 GRCh37: 2:219677665-219677665
GRCh38: 2:218812942-218812942
26 CYP27A1 NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter) SNV Pathogenic 801897 rs188850202 GRCh37: 2:219677060-219677060
GRCh38: 2:218812337-218812337
27 CYP27A1 NM_000784.4(CYP27A1):c.1185-2A>G SNV Pathogenic 960761 GRCh37: 2:219679101-219679101
GRCh38: 2:218814378-218814378
28 CYP27A1 NM_000784.4(CYP27A1):c.69_82del (p.His23fs) Deletion Pathogenic 968241 GRCh37: 2:219646971-219646984
GRCh38: 2:218782248-218782261
29 CYP27A1 NM_000784.4(CYP27A1):c.5dup (p.Ala3fs) Duplication Pathogenic 65882 rs587778802 GRCh37: 2:219646909-219646910
GRCh38: 2:218782186-218782187
30 CYP27A1 NM_000784.4(CYP27A1):c.506_507delinsA (p.Ala169fs) Indel Pathogenic 575859 rs1559392331 GRCh37: 2:219677004-219677005
GRCh38: 2:218812281-218812282
31 CYP27A1 NM_000784.4(CYP27A1):c.24dup (p.Leu9fs) Duplication Pathogenic 971111 GRCh37: 2:219646927-219646928
GRCh38: 2:218782204-218782205
32 CYP27A1 NM_000784.4(CYP27A1):c.446+1G>A SNV Pathogenic 65871 rs587778797 GRCh37: 2:219674491-219674491
GRCh38: 2:218809768-218809768
33 CYP27A1 NM_000784.4(CYP27A1):c.886C>T (p.Gln296Ter) SNV Pathogenic 502269 rs575064188 GRCh37: 2:219677688-219677688
GRCh38: 2:218812965-218812965
34 CYP27A1 NM_000784.4(CYP27A1):c.1185-1G>A SNV Pathogenic 500370 rs587778779 GRCh37: 2:219679102-219679102
GRCh38: 2:218814379-218814379
35 CYP27A1 NM_000784.4(CYP27A1):c.1381C>T (p.Gln461Ter) SNV Pathogenic 597631 rs771819245 GRCh37: 2:219679385-219679385
GRCh38: 2:218814662-218814662
36 CYP27A1 NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter) SNV Pathogenic 65902 rs72551318 GRCh37: 2:219677436-219677436
GRCh38: 2:218812713-218812713
37 CYP27A1 NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter) SNV Pathogenic 65902 rs72551318 GRCh37: 2:219677436-219677436
GRCh38: 2:218812713-218812713
38 CYP27A1 NM_000784.4(CYP27A1):c.844+1G>A SNV Pathogenic 4257 rs397515354 GRCh37: 2:219677473-219677473
GRCh38: 2:218812750-218812750
39 CYP27A1 NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp) SNV Pathogenic 65838 rs573951598 GRCh37: 2:219679131-219679131
GRCh38: 2:218814408-218814408
40 CYP27A1 NM_000784.4(CYP27A1):c.845-1G>A SNV Pathogenic 4256 rs397515353 GRCh37: 2:219677646-219677646
GRCh38: 2:218812923-218812923
41 CYP27A1 NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs) Deletion Pathogenic 498394 rs755532803 GRCh37: 2:219677292-219677304
GRCh38: 2:218812569-218812581
42 CYP27A1 NM_000784.4(CYP27A1):c.67dup (p.His23fs) Duplication Pathogenic 817356 rs1559384522 GRCh37: 2:219646967-219646968
GRCh38: 2:218782244-218782245
43 CYP27A1 NM_000784.4(CYP27A1):c.433G>A (p.Gly145Arg) SNV Pathogenic 65868 rs587778795 GRCh37: 2:219674477-219674477
GRCh38: 2:218809754-218809754
44 CYP27A1 NM_000784.4(CYP27A1):c.850A>T (p.Lys284Ter) SNV Pathogenic 65907 rs72551319 GRCh37: 2:219677652-219677652
GRCh38: 2:218812929-218812929
45 CYP27A1 NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter) SNV Pathogenic 65873 rs72551314 GRCh37: 2:219676973-219676973
GRCh38: 2:218812250-218812250
46 CYP27A1 NM_000784.4(CYP27A1):c.753_754del (p.Tyr253fs) Deletion Pathogenic 1028374 GRCh37: 2:219677380-219677381
GRCh38: 2:218812657-218812658
47 CYP27A1 NM_000784.4(CYP27A1):c.1595G>A (p.Ter532=) SNV Pathogenic 1034295 GRCh37: 2:219679752-219679752
GRCh38: 2:218815029-218815029
48 CYP27A1 NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln) SNV Pathogenic 4258 rs121908097 GRCh37: 2:219679425-219679425
GRCh38: 2:218814702-218814702
49 CYP27A1 NM_000784.4(CYP27A1):c.1263+1G>A SNV Pathogenic 4262 rs397515355 GRCh37: 2:219679182-219679182
GRCh38: 2:218814459-218814459
50 CYP27A1 NM_000784.4(CYP27A1):c.1184+1G>A SNV Pathogenic 65833 rs587778777 GRCh37: 2:219678911-219678911
GRCh38: 2:218814188-218814188

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

72
# 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

Expression for Cerebrotendinous Xanthomatosis

Search GEO for disease gene expression data for Cerebrotendinous Xanthomatosis.

Pathways for Cerebrotendinous Xanthomatosis

Pathways related to Cerebrotendinous Xanthomatosis according to KEGG:

36
# Name Kegg Source Accession
1 Primary bile acid biosynthesis hsa00120
2 PPAR signaling pathway hsa03320

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

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.9 SP1 NR1H4 NR1H3 NR1H2 HSD3B7 HMGCR
2
Show member pathways
12.93 NR1H4 FDX1 CYP7B1 CYP7A1 CYP46A1 CYP3A4
3
Show member pathways
11.88 NR1H4 HSD3B7 CYP7B1 CYP7A1 CYP46A1 CYP27A1
4
Show member pathways
11.82 HMGCR CYP7A1 CYP27A1
5 11.66 NR1H4 HMGCR CYP7A1 CYP3A4
6
Show member pathways
11.61 NR1I2 NR1H4 NR1H3 NR1H2 HNF4A
7 11.59 NR1H3 CYP7A1 CYP27A1
8 11.56 SP1 NR1H2 HMGCR
9
Show member pathways
11.5 CYP7B1 CYP7A1 CYP3A4
10 11.31 CYP3A4 CYP27B1 CALCA
11 11.19 NR1I2 HMGCR CYP3A4
12 10.85 NR1H3 HMGCR
13 10.82 NR1H4 CYP7A1 CYP3A4
14 10.73 NR1I2 CYP3A4
15 10.64 NR1I2 NR1H4 NR1H3 CYP7A1 CYP3A4 CYP27B1
16 10.55 CYP27B1 CYP27A1
17 10.49 NR1I2 NR1H4 CYP7A1 CYP3A4
18 10.41 SP1 HNF4A

GO Terms for Cerebrotendinous Xanthomatosis

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.43 HSD3B7 HMGCR CYP7B1 CYP7A1 CYP46A1 CYP3A4
2 costamere GO:0043034 9.16 VCL FLNC
3 organelle membrane GO:0031090 8.92 CYP7B1 CYP7A1 CYP46A1 CYP3A4

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

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.14 SP1 NR1I2 NR1H4 NR1H3 NR1H2 HNF4A
2 oxidation-reduction process GO:0055114 10.11 HSD3B7 HMGCR FDX1 CYP7B1 CYP7A1 CYP46A1
3 positive regulation of transcription, DNA-templated GO:0045893 10.09 SP1 NR1I2 NR1H4 NR1H3 NR1H2 HNF4A
4 negative regulation of transcription, DNA-templated GO:0045892 10.05 NR1I2 NR1H3 NR1H2 HNF4A CALCA
5 lipid metabolic process GO:0006629 9.96 NR1H3 NR1H2 HNF4A HMGCR FDX1 CYP7B1
6 transcription initiation from RNA polymerase II promoter GO:0006367 9.93 NR1I2 NR1H4 NR1H3 NR1H2 HNF4A
7 xenobiotic metabolic process GO:0006805 9.85 NR1I2 HNF4A CYP46A1 CYP3A4
8 intracellular receptor signaling pathway GO:0030522 9.83 NR1I2 NR1H4 NR1H3 NR1H2 HNF4A
9 regulation of lipid metabolic process GO:0019216 9.82 HNF4A HMGCR CYP7A1
10 triglyceride homeostasis GO:0070328 9.8 NR1H4 NR1H3 HNF4A HMGCR
11 bile acid biosynthetic process GO:0006699 9.8 HSD3B7 CYP7B1 CYP7A1 CYP46A1 CYP27A1
12 steroid biosynthetic process GO:0006694 9.8 HSD3B7 HMGCR FDX1 CYP7B1 CYP3A4 CYP27A1
13 lipid homeostasis GO:0055088 9.77 NR1H3 NR1H2 HNF4A
14 sterol metabolic process GO:0016125 9.77 FDX1 CYP7B1 CYP7A1 CYP46A1 CYP27A1
15 bile acid signaling pathway GO:0038183 9.7 NR1H4 HMGCR CYP7A1
16 cholesterol metabolic process GO:0008203 9.7 HMGCR FDX1 CYP7B1 CYP7A1 CYP46A1 CYP3A4
17 cholesterol catabolic process GO:0006707 9.69 CYP7A1 CYP46A1 CYP27A1
18 exogenous drug catabolic process GO:0042738 9.67 NR1I2 CYP3A4
19 cellular lipid metabolic process GO:0044255 9.67 NR1H3 NR1H2
20 positive regulation of cholesterol efflux GO:0010875 9.66 NR1H3 NR1H2
21 positive regulation of cellular protein metabolic process GO:0032270 9.66 NR1H3 NR1H2
22 positive regulation of triglyceride biosynthetic process GO:0010867 9.65 NR1H3 NR1H2
23 positive regulation of fatty acid biosynthetic process GO:0045723 9.65 NR1H3 NR1H2
24 calcitriol biosynthetic process from calciol GO:0036378 9.65 CYP3A4 CYP27B1 CYP27A1
25 vitamin D metabolic process GO:0042359 9.64 CYP3A4 CYP27B1
26 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.63 NR1H3 NR1H2
27 positive regulation of lipoprotein lipase activity GO:0051006 9.63 NR1H3 NR1H2
28 negative regulation of cholesterol storage GO:0010887 9.62 NR1H3 NR1H2
29 negative regulation of interferon-gamma-mediated signaling pathway GO:0060336 9.62 NR1H3 NR1H2
30 negative regulation of response to endoplasmic reticulum stress GO:1903573 9.61 NR1H3 NR1H2
31 B cell chemotaxis GO:0035754 9.6 HSD3B7 CYP7B1
32 regulation of bile acid biosynthetic process GO:0070857 9.58 NR1H4 CYP7A1
33 positive regulation of cholesterol transport GO:0032376 9.58 NR1H3 NR1H2
34 negative regulation of pinocytosis GO:0048550 9.57 NR1H3 NR1H2
35 negative regulation of lipid transport GO:0032369 9.56 NR1H3 NR1H2
36 cholesterol homeostasis GO:0042632 9.5 NR1H4 NR1H3 NR1H2 HNF4A HMGCR CYP7B1
37 steroid metabolic process GO:0008202 9.23 NR1I2 HMGCR FDX1 CYP7B1 CYP7A1 CYP46A1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 10.28 SP1 NR1I2 NR1H4 NR1H3 NR1H2 HNF4A
2 oxidoreductase activity GO:0016491 10.01 HSD3B7 HMGCR CYP7B1 CYP7A1 CYP46A1 CYP3A4
3 DNA-binding transcription factor activity GO:0003700 9.99 SP1 NR1I2 NR1H4 NR1H3 NR1H2 HNF4A
4 sequence-specific DNA binding GO:0043565 9.95 SP1 NR1I2 NR1H4 NR1H3 NR1H2 HNF4A
5 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.93 SP1 NR1I2 NR1H4 NR1H3 NR1H2 HNF4A
6 heme binding GO:0020037 9.85 CYP7B1 CYP7A1 CYP46A1 CYP3A4 CYP27B1 CYP27A1
7 transcription regulatory region sequence-specific DNA binding GO:0000976 9.83 SP1 NR1H4 NR1H3 HNF4A
8 monooxygenase activity GO:0004497 9.73 CYP7B1 CYP7A1 CYP46A1 CYP3A4 CYP27B1 CYP27A1
9 nuclear receptor activity GO:0004879 9.72 NR1I2 NR1H4 NR1H3 NR1H2 HNF4A
10 nuclear receptor binding GO:0016922 9.55 NR1I2 NR1H4
11 steroid hydroxylase activity GO:0008395 9.55 CYP7B1 CYP7A1 CYP46A1 CYP3A4 CYP27A1
12 retinoid X receptor binding GO:0046965 9.54 NR1H4 NR1H2
13 vitamin D3 25-hydroxylase activity GO:0030343 9.49 CYP3A4 CYP27A1
14 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen GO:0016705 9.43 CYP7B1 CYP7A1 CYP46A1 CYP3A4 CYP27B1 CYP27A1
15 iron ion binding GO:0005506 9.17 FDX1 CYP7B1 CYP7A1 CYP46A1 CYP3A4 CYP27B1

Sources for Cerebrotendinous Xanthomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....