CBSD
MCID: HMC040
MIFTS: 50

Homocystinuria Due to Cystathionine Beta-Synthase Deficiency (CBSD)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

MalaCards integrated aliases for Homocystinuria Due to Cystathionine Beta-Synthase Deficiency:

Name: Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 57 20 58 72
Cystathionine Beta-Synthase Deficiency 57 20 58 72
Homocystinuria with or Without Response to Pyridoxine 57 72 6
Cbs Deficiency 57 20 72
Homocystinuria, B6-Responsive and Nonresponsive Types 57 13
Classic Homocystinuria 20 58
Homocystinuria Due to Cystathionine Beta-Synthase 73
Cystathionine Beta-Synthase Deficiency Disease 70
Hyperhomocysteinemia, Thrombotic, Cbs-Related 6
Hyperhomocysteinemia Thrombotic Cbs-Related 72
Homocystinuria Due to Cbs Deficiency 20
Thrombosis, Hyperhomocysteinemic 57
Cbsd 72

Characteristics:

Orphanet epidemiological data:

58
classic homocystinuria
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
fifty-percent of individuals responsive to pyridoxine (vitamin b6)
pyridoxine responsive individuals often have milder manifestations than those not responsive
management of homocystinuria includes low methionine, cystine supplemented diet for pyridoxine nonresponders and pyridoxine supplementation for pyridoxine responders
treatment with betaine, especially for pyridoxine nonresponders
thromboembolism is the most common cause of death
frequency between 1 in 58,000 to 1 in 1,000,000


HPO:

31
homocystinuria due to cystathionine beta-synthase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

GARD : 20 Homocystinuria due to CBS deficiency is an inherited disorder in which the body is unable to correctly use the amino acid, homocysteine, one of the building blocks of protein. This form of homocystinuria is caused by a genetic mutation in the CBS gene, which leads to low levels or absence of an enzyme called cystathionine beta-synthase (CBS). When CBS is absent or not working right, homocysteine and other toxic chemicals build up in the blood and urine. Symptoms of this disorder include poor growth and slow weight gain in infancy. Additional symptoms include nearsightedness, dislocation of the lens of the eye, an increased risk of blood clots, and developmental problems. Homocystinuria due to CBS deficiency is inherited in an autosomal recessive pattern. It is diagnosed by newborn screening, or later in life by blood and urine testing. There are two types of homocystinuria due to CBS deficiency. One type responds to treatment with vitamin B6 and the other one does not. Other treatments for this disorder include a protein-restricted diet, betaine treatment, and other supplements. With early treatment, individuals with this condition can have normal growth and development.

MalaCards based summary : Homocystinuria Due to Cystathionine Beta-Synthase Deficiency, also known as cystathionine beta-synthase deficiency, is related to homocystinuria caused by cystathionine beta-synthase deficiency and homocystinuria, and has symptoms including seizures An important gene associated with Homocystinuria Due to Cystathionine Beta-Synthase Deficiency is CBS (Cystathionine Beta-Synthase), and among its related pathways/superpathways is Glucose / Energy Metabolism. The drugs Acetylcysteine and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and endothelial, and related phenotypes are failure to thrive and myopia

OMIM® : 57 Classic homocystinuria is an autosomal recessive metabolic disorder of sulfur metabolism. The clinical features of untreated homocystinuria due to CBS deficiency usually manifest in the first or second decade of life and include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome (MFS; 154700), and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine. There are 2 main phenotypes of the classic disorder: a milder pyridoxine (vitamin B6)-responsive form, and a more severe pyridoxine-nonresponsive form. Pyridoxine is a cofactor for the CBS enzyme, and can aid in the conversion of homocysteine to cysteine (summary by Reish et al., 1995 and Testai and Gorelick, 2010). Some patients have been reported to have a milder form of homocystinuria, which is characterized by increased plasma homocysteine and increased risk for thrombotic events in young adulthood, but without the other skeletal, ocular, or nervous system manifestations observed in classic homocystinuria (Kelly et al., 2003). (236200) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Cystathionine beta-synthase deficiency: An enzymatic deficiency resulting in altered sulfur metabolism and homocystinuria. The clinical features of untreated homocystinuria due to CBS deficiency include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome, and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine.

Wikipedia : 73 Homocystinuria or HCU is an inherited disorder of the metabolism of the amino acid methionine due to a... more...

Related Diseases for Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

Diseases related to Homocystinuria Due to Cystathionine Beta-Synthase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 homocystinuria caused by cystathionine beta-synthase deficiency 30.8 PKHD1 CBS
2 homocystinuria 30.5 TYR CST3 CBS
3 homocysteinemia 30.4 CST3 CBS
4 glycine n-methyltransferase deficiency 11.3
5 vascular disease 10.6
6 thrombosis 10.5
7 hypermethioninemia 10.5
8 isolated ectopia lentis 10.5
9 aortic aneurysm, familial abdominal, 1 10.3
10 beckwith-wiedemann syndrome 10.3
11 marfan syndrome 10.3
12 obsessive-compulsive disorder 10.3
13 osteoporosis 10.3
14 thrombophilia due to thrombin defect 10.3
15 vitamin b12 deficiency 10.3
16 autosomal recessive disease 10.3
17 pre-eclampsia 10.3
18 myopia 10.3
19 eclampsia 10.3
20 avoidant personality disorder 10.3
21 personality disorder 10.3
22 transient cerebral ischemia 10.3
23 arteriosclerosis 10.3
24 sagittal sinus thrombosis 10.3
25 aortic aneurysm 10.3
26 placenta disease 10.3
27 pulmonary embolism 10.3
28 mast cell activation syndrome 10.3
29 alacrima, achalasia, and mental retardation syndrome 10.2
30 pectus excavatum 10.1
31 stroke, ischemic 10.1
32 fatty liver disease, nonalcoholic 1 10.1
33 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.1
34 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.1
35 non-alcoholic fatty liver disease 10.1
36 respiratory failure 10.1
37 pancytopenia 10.1
38 thrombophilia 10.1
39 liver disease 10.1
40 brain edema 10.1
41 dystonia 10.1
42 cerebrovascular disease 10.1
43 amino acid metabolic disorder 10.1
44 carotid artery dissection 10.1
45 fatty liver disease 10.1
46 alopecia 10.1
47 hypoalphalipoproteinemia 10.1
48 encephalopathy 10.1
49 hypopigmentation of the skin 10.1
50 keratoconus 10.0

Graphical network of the top 20 diseases related to Homocystinuria Due to Cystathionine Beta-Synthase Deficiency:



Diseases related to Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

Symptoms & Phenotypes for Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

Human phenotypes related to Homocystinuria Due to Cystathionine Beta-Synthase Deficiency:

31 58 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 31 occasional (7.5%) HP:0001508
2 myopia 58 31 very rare (1%) Frequent (79-30%) HP:0000545
3 visual impairment 31 very rare (1%) HP:0000505
4 lens subluxation 31 very rare (1%) HP:0001132
5 intellectual disability 58 31 Very frequent (99-80%) HP:0001249
6 scoliosis 58 31 Frequent (79-30%) HP:0002650
7 high palate 58 31 Occasional (29-5%) HP:0000218
8 behavioral abnormality 58 31 Occasional (29-5%) HP:0000708
9 pectus carinatum 58 31 Frequent (79-30%) HP:0000768
10 osteoporosis 58 31 Very frequent (99-80%) HP:0000939
11 pectus excavatum 58 31 Frequent (79-30%) HP:0000767
12 arachnodactyly 58 31 Very frequent (99-80%) HP:0001166
13 disproportionate tall stature 58 31 Very frequent (99-80%) HP:0001519
14 dental crowding 58 31 Very frequent (99-80%) HP:0000678
15 glaucoma 58 31 Occasional (29-5%) HP:0000501
16 seizures 58 Occasional (29-5%)
17 depressivity 31 HP:0000716
18 kyphosis 58 Frequent (79-30%)
19 hypertension 58 Frequent (79-30%)
20 cataract 58 Occasional (29-5%)
21 global developmental delay 31 HP:0001263
22 hepatomegaly 58 Occasional (29-5%)
23 inguinal hernia 31 HP:0000023
24 joint stiffness 58 Frequent (79-30%)
25 abnormality of amino acid metabolism 58 Very frequent (99-80%)
26 optic atrophy 58 Occasional (29-5%)
27 abnormality of retinal pigmentation 58 Occasional (29-5%)
28 genu valgum 58 Frequent (79-30%)
29 hernia 58 Occasional (29-5%)
30 arteriovenous malformation 58 Frequent (79-30%)
31 hepatic steatosis 31 HP:0001397
32 elevated hepatic transaminase 58 Occasional (29-5%)
33 myocardial infarction 31 HP:0001658
34 venous thrombosis 58 Frequent (79-30%)
35 hemiplegia/hemiparesis 58 Occasional (29-5%)
36 mitral valve prolapse 31 HP:0001634
37 kyphoscoliosis 31 HP:0002751
38 anorexia 58 Occasional (29-5%)
39 ectopia lentis 58 Very frequent (99-80%)
40 retinal detachment 58 Occasional (29-5%)
41 amblyopia 58 Frequent (79-30%)
42 sparse scalp hair 58 Frequent (79-30%)
43 recurrent fractures 58 Very frequent (99-80%)
44 gastrointestinal hemorrhage 58 Occasional (29-5%)
45 stroke 31 HP:0001297
46 cerebral ischemia 58 Frequent (79-30%)
47 urticaria 58 Occasional (29-5%)
48 intracranial hemorrhage 58 Occasional (29-5%)
49 tall stature 31 HP:0000098
50 psychosis 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
mental retardation
cerebrovascular accident

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
pectus excavatum

Cardiovascular Heart:
myocardial infarction
mitral valve prolapse

Skeletal Limbs:
arachnodactyly
dolichostenomelia
limited joint mobility

Skeletal:
generalized osteoporosis

Laboratory Abnormalities:
homocystinuria
methioninuria
cystathionine beta-synthase deficiency

Growth Height:
normal to tall stature

Skin Nails Hair Skin:
hypopigmentation
livedo reticularis
malar flush

Growth Other:
occasional failure to thrive in infancy

Hematology:
thromboembolism (25%)

Abdomen External Features:
inguinal hernia

Head And Neck Eyes:
myopia
ectopia lentis
glaucoma

Skeletal Spine:
kyphoscoliosis
biconcave 'codfish' vertebrae

Abdomen Pancreas:
pancreatitis

Neurologic Behavioral Psychiatric Manifestations:
personality disorder
depression
psychiatric disorders

Head And Neck Mouth:
high-arched palate

Head And Neck Teeth:
crowded teeth

Skin Nails Hair Hair:
hypopigmentation
fine, brittle hair

Abdomen Liver:
fatty changes in liver

Clinical features from OMIM®:

236200 (Updated 05-Apr-2021)

UMLS symptoms related to Homocystinuria Due to Cystathionine Beta-Synthase Deficiency:


seizures

GenomeRNAi Phenotypes related to Homocystinuria Due to Cystathionine Beta-Synthase Deficiency according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-111 9.5 CBS CST3
2 Increased shRNA abundance (Z-score > 2) GR00366-A-134 9.5 CST3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-17 9.5 CBS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.5 CST3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.5 CST3
6 Increased shRNA abundance (Z-score > 2) GR00366-A-203 9.5 CST3
7 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.5 CBS
8 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.5 CST3
9 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.5 CST3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-3 9.5 CBS
11 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.5 CST3
12 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.5 CBS
13 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.5 CST3
14 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.5 CBS

Drugs & Therapeutics for Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

Drugs for Homocystinuria Due to Cystathionine Beta-Synthase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
2
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
3
Taurine Approved, Nutraceutical Phase 1, Phase 2 107-35-7 1123
4
Cysteine Approved, Nutraceutical Phase 1, Phase 2 52-90-4 5862
5 Pharmaceutical Solutions Phase 1, Phase 2
6 Antidotes Phase 1, Phase 2
7 Analgesics, Non-Narcotic Phase 1, Phase 2
8 Respiratory System Agents Phase 1, Phase 2
9 Analgesics Phase 1, Phase 2
10 Protective Agents Phase 1, Phase 2
11 Expectorants Phase 1, Phase 2
12 N-monoacetylcystine Phase 1, Phase 2
13 Antioxidants Phase 1, Phase 2
14 Antiviral Agents Phase 1, Phase 2
15 Liver Extracts Phase 1, Phase 2
16 Antipyretics Phase 1, Phase 2
17 Anti-Infective Agents Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Double Blind, Randomized, Placebo-controlled, Phase 1/2 Study to Assess the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Effects on Clinical Outcomes of OT-58, Administered Subcutaneously in Patients With Cystathionine Beta-Synthase Deficient Homocystinuria Recruiting NCT03406611 Phase 1, Phase 2 OT-58;Placebo
2 Functional Consequences and Therapeutic Intervention in Hampered Production of Cysteine, Glutathione and Taurine in Classical Homocystinuria Not yet recruiting NCT04015557 Phase 1, Phase 2 Acetaminophen;N-acetylcysteine
3 Investigation the Incidence of Methylenetetrahydrofolate Reductase Deficiency in Ischemic Cerebrovascular Diseases Presenting With Epileptic Seizures in Adults Completed NCT04287881
4 Effects of Exercise on Metabolic Parameters in Treated Patients With Classical Homocystinuria: a Research Project on a Small Sample Size, Compared to Healthy Controls. Completed NCT04021732
5 A Multicenter, Observational, Prospective, Natural History Study of Homocystinuria Due to Cystathionine Beta-synthase Deficiency in Pediatric and Adult Patients Recruiting NCT02998710

Search NIH Clinical Center for Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

Genetic Tests for Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

Anatomical Context for Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

MalaCards organs/tissues related to Homocystinuria Due to Cystathionine Beta-Synthase Deficiency:

40
Eye, Liver, Endothelial, Brain, Heart, Skin, Fetal Liver

Publications for Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

Articles related to Homocystinuria Due to Cystathionine Beta-Synthase Deficiency:

(show top 50) (show all 331)
# Title Authors PMID Year
1
Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype. 57 61 6
14635102 2003
2
Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency. 61 57 6
12552044 2003
3
The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment. 61 57 6
12124992 2002
4
Disposition of homocysteine in subjects heterozygous for homocystinuria due to cystathionine beta-synthase deficiency: relationship between genotype and phenotype. 61 6 57
11343305 2001
5
The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment. 6 57 61
10364517 1999
6
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations. 61 57 6
7762555 1995
7
Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria. 61 57 6
7506602 1993
8
Mutations in cystathionine beta-synthase or methylenetetrahydrofolate reductase gene increase N-homocysteinylated protein levels in humans. 6 57
18708589 2008
9
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America. 6 57
16479318 2006
10
Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria. 6 57
16205833 2005
11
High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations. 57 6
12007221 2002
12
Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria. 6 57
11359213 2001
13
Intermediate and severe hyperhomocysteinemia with thrombosis: a study of genetic determinants. 6 57
10780316 2000
14
Prevalence of congenital homocystinuria in Denmark. 57 6
10328723 1999
15
Cystathionine beta-synthase mutations in homocystinuria. 57 6
10338090 1999
16
Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria. 57 6
9889017 1998
17
High prevalence of a mutation in the cystathionine beta-synthase gene. 6 57
8940271 1996
18
Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. 6 57
8554066 1996
19
High frequency (71%) of cystathionine beta-synthase mutation G307S in Irish homocystinuria patients. 6 57
7581402 1995
20
Komrower Lecture. Molecular basis of phenotype expression in homocystinuria. 6 57
7967489 1994
21
Homocystinuria: biogenesis of cystathionine beta-synthase subunits in cultured fibroblasts and in an in vitro translation system programmed with fibroblast messenger RNA. 6 57
6711564 1984
22
High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands. 61 6
24211323 2014
23
Cystathionine beta-synthase deficiency heralded by cerebral sinus venous thrombosis and stroke. 6 61
24138954 2014
24
Vascular presentation of cystathionine beta-synthase deficiency in adulthood. 6 61
20567906 2011
25
Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards. 6 61
19914636 2010
26
A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency. 6 61
19819175 2010
27
Molecular neonatal screening for homocystinuria in the Qatari population. 61 6
19370759 2009
28
Are heterocygotes for classical homocystinuria at risk of vitamin B12 and folic acid deficiency? 61 57
17686644 2007
29
Birth prevalence of homocystinuria. 61 6
15192637 2004
30
Limited effectiveness of betaine therapy for cystathionine beta synthase deficiency. 6 61
12828591 2003
31
Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency. 57 61
12227460 2002
32
Vitamin C therapy ameliorates vascular endothelial dysfunction in treated patients with homocystinuria. 61 57
12118525 2002
33
The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency. 57 61
11596648 2001
34
High prevalence of the I278T mutation of the human cystathionine beta-synthase detected by a novel screening application. 61 6
11434706 2001
35
Molecular and clinical characterisation of homocystinuria in two Austrian families with cystathionine beta-synthase deficiency. 6 61
11774777 2001
36
Reduction of false negative results in screening of newborns for homocystinuria. 61 57
10564686 1999
37
Homocystinuria due to cystathionine beta-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control. 57 61
9819703 1998
38
Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria. 6 61
9587029 1998
39
Tyrosinase inhibition due to interaction of homocyst(e)ine with copper: the mechanism for reversible hypopigmentation in homocystinuria due to cystathionine beta-synthase deficiency. 57 61
7611281 1995
40
Molecular analysis of patients affected by homocystinuria due to cystathionine beta-synthase deficiency: report of a new mutation in exon 8 and a deletion in intron 11. 61 6
7564249 1995
41
Abnormally high thromboxane biosynthesis in homozygous homocystinuria. Evidence for platelet involvement and probucol-sensitive mechanism. 57 61
8376592 1993
42
Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency. 61 6
1301198 1992
43
Psychiatric manifestations of homocystinuria due to cystathionine beta-synthase deficiency: prevalence, natural history, and relationship to neurologic impairment and vitamin B6-responsiveness. 61 57
3591841 1987
44
Homocystinuria due to cystathionine beta-synthase deficiency--the effects of betaine treatment in pyridoxine-responsive patients. 57 61
3934499 1985
45
The natural history of homocystinuria due to cystathionine beta-synthase deficiency. 57 61
3872065 1985
46
Homocystinuria--the effects of betaine in the treatment of patients not responsive to pyridoxine. 57 61
6877313 1983
47
Immunochemical studies on cultured fibroblasts from patients with homocystinuria due to cystathionine beta-synthase deficiency. 61 57
7081217 1982
48
Cerebral venous sinus thrombosis due to hyperhomocysteinemia with cystathionine-β-synthase (CBS) gene mutation: A case report. 6
30732165 2019
49
Severe Hyperhomocysteinemia with Two Novel Mutations of c.154T>C and c.457G>A in Cystathionine Beta-Synthase Gene. 6
30246729 2018
50
Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization. 6
29326875 2018

Variations for Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

ClinVar genetic disease variations for Homocystinuria Due to Cystathionine Beta-Synthase Deficiency:

6 (show top 50) (show all 398)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CBS NM_000071.2(CBS):c.1397C>T (p.Ser466Leu) SNV Pathogenic 130 rs121964971 GRCh37: 21:44478325-44478325
GRCh38: 21:43058215-43058215
2 CBS NM_000071.2(CBS):c.19dup (p.Gln7fs) Duplication Pathogenic 371345 rs748695461 GRCh37: 21:44492284-44492285
GRCh38: 21:43072174-43072175
3 CBS NM_000071.2(CBS):c.954+1G>A SNV Pathogenic 371568 rs1057517373 GRCh37: 21:44483062-44483062
GRCh38: 21:43062952-43062952
4 CBS NM_000071.2(CBS):c.738delG Deletion Pathogenic 370105 rs766453711 GRCh37: 21:44484100-44484100
GRCh38: 21:43063990-43063990
5 CBS NC_000021.9:g.(?_43058125)_(43065715_?)del Deletion Pathogenic 471352 GRCh37: 21:44478235-44485825
GRCh38: 21:43058125-43065715
6 CBS NM_000071.2(CBS):c.992C>A (p.Ala331Glu) SNV Pathogenic 212857 rs777919630 GRCh37: 21:44482468-44482468
GRCh38: 21:43062358-43062358
7 CBS NM_000071.2(CBS):c.284T>C (p.Ile95Thr) SNV Pathogenic 471361 rs1347662650 GRCh37: 21:44488651-44488651
GRCh38: 21:43068541-43068541
8 CBS NM_000071.2(CBS):c.904G>A (p.Glu302Lys) SNV Pathogenic 496864 rs779270933 GRCh37: 21:44483113-44483113
GRCh38: 21:43063003-43063003
9 CBS NM_000071.2(CBS):c.816T>A (p.Cys272Ter) SNV Pathogenic 439461 rs528689432 GRCh37: 21:44484022-44484022
GRCh38: 21:43063912-43063912
10 CBS NM_000071.2(CBS):c.536_553del (p.Asp179_Leu184del) Deletion Pathogenic 198388 rs794727835 GRCh37: 21:44485610-44485627
GRCh38: 21:43065500-43065517
11 CBS NM_000071.2(CBS):c.457G>A (p.Gly153Arg) SNV Pathogenic 212846 rs745704046 GRCh37: 21:44485800-44485800
GRCh38: 21:43065690-43065690
12 CBS NM_000071.2(CBS):c.452-153_624dup Duplication Pathogenic 571387 rs1568932440 GRCh37: 21:44485538-44485539
GRCh38: 21:43065428-43065429
13 CBS NM_000071.2(CBS):c.494G>A (p.Cys165Tyr) SNV Pathogenic 495531 rs1347651454 GRCh37: 21:44485763-44485763
GRCh38: 21:43065653-43065653
14 CBS NM_000071.2(CBS):c.1126G>A (p.Asp376Asn) SNV Pathogenic 647345 rs1170128038 GRCh37: 21:44480570-44480570
GRCh38: 21:43060460-43060460
15 CBS NM_000071.2(CBS):c.1223+1G>T SNV Pathogenic 650962 rs1601339216 GRCh37: 21:44479335-44479335
GRCh38: 21:43059225-43059225
16 CBS NM_000071.3(CBS):c.1152G>C (p.Lys384Asn) SNV Pathogenic 813502 rs1304669003 GRCh37: 21:44479407-44479407
GRCh38: 21:43059297-43059297
17 CBS NM_000071.3(CBS):c.19del (p.Gln7fs) Deletion Pathogenic 859549 GRCh37: 21:44492285-44492285
GRCh38: 21:43072175-43072175
18 CBS NM_000071.3(CBS):c.1226G>A (p.Trp409Ter) SNV Pathogenic 860504 GRCh37: 21:44479076-44479076
GRCh38: 21:43058966-43058966
19 CBS NM_000071.3(CBS):c.451G>A (p.Gly151Arg) SNV Pathogenic 863694 GRCh37: 21:44486353-44486353
GRCh38: 21:43066243-43066243
20 CBS NM_000071.3(CBS):c.156C>A (p.Cys52Ter) SNV Pathogenic 863695 GRCh37: 21:44492148-44492148
GRCh38: 21:43072038-43072038
21 CBS NM_000071.2(CBS):c.1005_1006delinsTT (p.Arg336Cys) Indel Pathogenic 419185 rs1064793703 GRCh37: 21:44482454-44482455
GRCh38: 21:43062344-43062345
22 CBS NM_000071.3(CBS):c.1227G>A (p.Trp409Ter) SNV Pathogenic 947601 GRCh37: 21:44479075-44479075
GRCh38: 21:43058965-43058965
23 CBS NM_000071.3(CBS):c.429C>G (p.Ile143Met) SNV Pathogenic 952410 GRCh37: 21:44486375-44486375
GRCh38: 21:43066265-43066265
24 CBS NM_000071.3(CBS):c.941T>C (p.Val314Ala) SNV Pathogenic 978771 GRCh37: 21:44483076-44483076
GRCh38: 21:43062966-43062966
25 CBS NM_000071.2(CBS):c.526G>A (p.Glu176Lys) SNV Pathogenic 633144 rs762065361 GRCh37: 21:44485731-44485731
GRCh38: 21:43065621-43065621
26 CBS NM_000071.3(CBS):c.476_477insCAGGGCCC (p.Val160fs) Insertion Pathogenic 972531 GRCh37: 21:44485780-44485781
GRCh38: 21:43065670-43065671
27 CBS NM_000071.3(CBS):c.919G>A (p.Gly307Ser) SNV Pathogenic 117 rs121964962 GRCh37: 21:44483098-44483098
GRCh38: 21:43062988-43062988
28 CBS NM_000071.3(CBS):c.833T>C (p.Ile278Thr) SNV Pathogenic 120 rs5742905 GRCh37: 21:44483184-44483184
GRCh38: 21:43063074-43063074
29 CBS NM_000071.2(CBS):c.1330G>A (p.Asp444Asn) SNV Pathogenic 126 rs28934891 GRCh37: 21:44478972-44478972
GRCh38: 21:43058862-43058862
30 CBS NM_000071.2(CBS):c.1265C>T (p.Pro422Leu) SNV Pathogenic 129 rs28934892 GRCh37: 21:44479037-44479037
GRCh38: 21:43058927-43058927
31 CBS NM_000071.2(CBS):c.1006C>T (p.Arg336Cys) SNV Pathogenic 92423 rs398123151 GRCh37: 21:44482454-44482454
GRCh38: 21:43062344-43062344
32 CBS NM_000071.3(CBS):c.833T>C (p.Ile278Thr) SNV Pathogenic 120 rs5742905 GRCh37: 21:44483184-44483184
GRCh38: 21:43063074-43063074
33 CBS NM_000071.3(CBS):c.919G>A (p.Gly307Ser) SNV Pathogenic 117 rs121964962 GRCh37: 21:44483098-44483098
GRCh38: 21:43062988-43062988
34 CBS NM_000071.2(CBS):c.1224-2A>C SNV Pathogenic 128 rs375846341 GRCh37: 21:44479080-44479080
GRCh38: 21:43058970-43058970
35 CBS NM_000071.2(CBS):c.374G>A (p.Arg125Gln) SNV Pathogenic 197625 rs781444670 GRCh37: 21:44486430-44486430
GRCh38: 21:43066320-43066320
36 CBS NM_001178009.3(CBS):c.969G>A (p.Trp323Ter) SNV Pathogenic 212856 rs863223432 GRCh37: 21:44482491-44482491
GRCh38: 21:43062381-43062381
37 CBS NM_000071.2(CBS):c.325T>C (p.Cys109Arg) SNV Pathogenic 212878 rs778220779 GRCh37: 21:44486479-44486479
GRCh38: 21:43066369-43066369
38 CBS NM_000071.2(CBS):c.572C>T (p.Thr191Met) SNV Pathogenic 132 rs121964973 GRCh37: 21:44485591-44485591
GRCh38: 21:43065481-43065481
39 CBS NM_000071.2(CBS):c.253G>A (p.Gly85Arg) SNV Pathogenic 212874 rs863223435 GRCh37: 21:44488682-44488682
GRCh38: 21:43068572-43068572
40 CBS NM_000071.2:c.832_833insCTGGGGTGGATCA Insertion Pathogenic 1030579 GRCh37: 21:44483184-44483185
GRCh38: 21:43063074-43063075
41 CBS NM_000071.2(CBS):c.828+1G>A SNV Pathogenic/Likely pathogenic 556952 rs763290176 GRCh37: 21:44484009-44484009
GRCh38: 21:43063899-43063899
42 CBS NM_000071.2(CBS):c.1007G>A (p.Arg336His) SNV Pathogenic/Likely pathogenic 371147 rs760417941 GRCh37: 21:44482453-44482453
GRCh38: 21:43062343-43062343
43 CBS NM_000071.2(CBS):c.341C>T (p.Ala114Val) SNV Pathogenic/Likely pathogenic 119 rs121964964 GRCh37: 21:44486463-44486463
GRCh38: 21:43066353-43066353
44 CBS NM_000071.2(CBS):c.1330G>A (p.Asp444Asn) SNV Pathogenic/Likely pathogenic 126 rs28934891 GRCh37: 21:44478972-44478972
GRCh38: 21:43058862-43058862
45 CBS NM_000071.2(CBS):c.362G>A (p.Arg121His) SNV Pathogenic/Likely pathogenic 188948 rs770095972 GRCh37: 21:44486442-44486442
GRCh38: 21:43066332-43066332
46 CBS NM_000071.2(CBS):c.1058C>T (p.Thr353Met) SNV Pathogenic/Likely pathogenic 131 rs121964972 GRCh37: 21:44480638-44480638
GRCh38: 21:43060528-43060528
47 CBS NM_000071.2(CBS):c.1039G>A (p.Gly347Ser) SNV Pathogenic/Likely pathogenic 188801 rs771298943 GRCh37: 21:44482421-44482421
GRCh38: 21:43062311-43062311
48 CBS NM_000071.2(CBS):c.146C>T (p.Pro49Leu) SNV Pathogenic/Likely pathogenic 212872 rs148865119 GRCh37: 21:44492158-44492158
GRCh38: 21:43072048-43072048
49 CBS NM_000071.2(CBS):c.737-1G>C SNV Pathogenic/Likely pathogenic 471366 rs757428597 GRCh37: 21:44484102-44484102
GRCh38: 21:43063992-43063992
50 CBS NM_000071.2(CBS):c.1221del (p.Trp408fs) Deletion Pathogenic/Likely pathogenic 495530 rs1361324844 GRCh37: 21:44479338-44479338
GRCh38: 21:43059228-43059228

UniProtKB/Swiss-Prot genetic disease variations for Homocystinuria Due to Cystathionine Beta-Synthase Deficiency:

72 (show top 50) (show all 103)
# Symbol AA change Variation ID SNP ID
1 CBS p.Pro78Arg VAR_002171 rs786204608
2 CBS p.Pro88Ser VAR_002172
3 CBS p.Lys102Asn VAR_002173 rs786204609
4 CBS p.Ala114Val VAR_002174 rs121964964
5 CBS p.Arg125Gln VAR_002175 rs781444670
6 CBS p.Glu131Asp VAR_002176 rs155587535
7 CBS p.Glu144Lys VAR_002177 rs121964966
8 CBS p.Pro145Leu VAR_002178 rs121964963
9 CBS p.Cys165Tyr VAR_002179 rs134765145
10 CBS p.Val168Met VAR_002180 rs121964970
11 CBS p.Arg224His VAR_002181 rs761647392
12 CBS p.Glu239Lys VAR_002182
13 CBS p.Thr257Met VAR_002183 rs758236584
14 CBS p.Ile278Thr VAR_002184 rs5742905
15 CBS p.Pro290Leu VAR_002185 rs760912339
16 CBS p.Gly307Ser VAR_002186 rs121964962
17 CBS p.Ala331Val VAR_002187 rs777919630
18 CBS p.Arg336Cys VAR_002188 rs398123151
19 CBS p.Arg369His VAR_002189 rs11700812
20 CBS p.Val371Met VAR_002190 rs372010465
21 CBS p.Lys384Glu VAR_002191 rs121964967
22 CBS p.Asp444Asn VAR_002192 rs28934891
23 CBS p.Val454Glu VAR_002193
24 CBS p.Leu539Ser VAR_002194 rs121964968
25 CBS p.Pro49Leu VAR_008049 rs148865119
26 CBS p.Arg58Trp VAR_008050 rs555959266
27 CBS p.Gly85Arg VAR_008051 rs863223435
28 CBS p.Gly116Arg VAR_008053 rs760214620
29 CBS p.Arg121Cys VAR_008054 rs775992753
30 CBS p.Arg121His VAR_008055 rs770095972
31 CBS p.Arg121Leu VAR_008056 rs770095972
32 CBS p.Arg125Trp VAR_008057 rs886057100
33 CBS p.Met126Val VAR_008058
34 CBS p.Glu128Asp VAR_008059 rs374593242
35 CBS p.Gly139Arg VAR_008060 rs121964965
36 CBS p.Gly148Arg VAR_008061 rs755952006
37 CBS p.Gly151Arg VAR_008062 rs373782713
38 CBS p.Ile152Met VAR_008064
39 CBS p.Ala155Thr VAR_008065 rs142913856
40 CBS p.Glu176Lys VAR_008066 rs762065361
41 CBS p.Val180Ala VAR_008067 rs155587501
42 CBS p.Thr191Met VAR_008068 rs121964973
43 CBS p.Asp198Val VAR_008069
44 CBS p.Ala226Thr VAR_008070 rs763835246
45 CBS p.Asp234Asn VAR_008071 rs773734233
46 CBS p.Thr262Met VAR_008072 rs149119723
47 CBS p.Arg266Gly VAR_008073
48 CBS p.Arg266Lys VAR_008074 rs121964969
49 CBS p.Glu302Lys VAR_008076 rs779270933
50 CBS p.Gly305Arg VAR_008077

Expression for Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

Search GEO for disease gene expression data for Homocystinuria Due to Cystathionine Beta-Synthase Deficiency.

Pathways for Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

Pathways related to Homocystinuria Due to Cystathionine Beta-Synthase Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.11 TYR CBS

GO Terms for Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

Molecular functions related to Homocystinuria Due to Cystathionine Beta-Synthase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 8.8 TYR CST3 CBS

Sources for Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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