CBSD
MCID: HMC040
MIFTS: 46

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 59 75
Cystathionine Beta-Synthase Deficiency 57 59 75
Homocystinuria with or Without Response to Pyridoxine 57 75
Homocystinuria, B6-Responsive and Nonresponsive Types 57 13
Cbs Deficiency 57 75
Homocystinuria Due to Cystathionine Beta-Synthase 76
Cystathionine Beta-Synthase Deficiency Disease 73
Hyperhomocysteinemia, Thrombotic, Cbs-Related 6
Hyperhomocysteinemia Thrombotic Cbs-Related 75
Thrombosis, Hyperhomocysteinemic 57
Classic Homocystinuria 59
Cbsd 75

Characteristics:

Orphanet epidemiological data:

59
classic homocystinuria
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood;

OMIM:

57
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:

32
homocystinuria due to cystathionine beta-synthase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

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)

MalaCards based summary : Homocystinuria Due to Cystathionine Beta-Synthase Deficiency, also known as cystathionine beta-synthase deficiency, is related to vascular disease and homocystinuria caused by cystathionine beta-synthase deficiency, 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 drug Taurine has been mentioned in the context of this disorder. Affiliated tissues include skin, liver and eye, and related phenotypes are pectus excavatum and genu valgum

UniProtKB/Swiss-Prot : 75 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 : 76 Classical homocystinuria, also known as cystathionine beta synthase deficiency or CBS deficiency, is an... 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 all 19)
# Related Disease Score Top Affiliating Genes
1 vascular disease 29.8 CBS CST3
2 homocystinuria caused by cystathionine beta-synthase deficiency 12.7
3 homocystinuria due to cbs deficiency 12.0
4 glycine n-methyltransferase deficiency 11.5
5 homocystinuria 11.0
6 thrombosis 10.4
7 homocysteinemia 10.3
8 vitamin b12 deficiency 10.3
9 charles bonnet syndrome 10.3
10 thrombophilia due to thrombin defect 10.3
11 pancytopenia 10.1
12 pyridoxine deficiency anemia 10.1
13 carotid artery dissection 10.1
14 keratoconus 9.9
15 fatty liver disease, nonalcoholic 1 9.9
16 acute kidney tubular necrosis 9.8 CST3 TYR
17 acute kidney failure 9.8 CST3 TYR
18 heart disease 9.7 CBS CST3
19 myocardial infarction 9.6 CBS CST3

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

Symptoms via clinical synopsis from OMIM:

57
Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
pectus carinatum

Abdomen External Features:
inguinal hernia

Head And Neck Eyes:
myopia
glaucoma
ectopia lentis

Skeletal Limbs:
arachnodactyly
dolichostenomelia
limited joint mobility

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

Laboratory Abnormalities:
homocystinuria
methioninuria
cystathionine beta-synthase deficiency

Neurologic Central Nervous System:
seizures
mental retardation
cerebrovascular accident

Cardiovascular Heart:
myocardial infarction
mitral valve prolapse

Abdomen Pancreas:
pancreatitis

Skeletal Spine:
kyphoscoliosis
biconcave 'codfish' vertebrae

Skeletal:
generalized osteoporosis

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%)


Clinical features from OMIM:

236200

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

59 32 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 59 32 frequent (33%) Frequent (79-30%) HP:0000767
2 genu valgum 59 32 frequent (33%) Frequent (79-30%) HP:0002857
3 high palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000218
4 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
5 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
6 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
7 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
8 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
9 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
10 behavioral abnormality 59 32 Occasional (29-5%) HP:0000708
11 hepatomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002240
12 pectus carinatum 59 32 frequent (33%) Frequent (79-30%) HP:0000768
13 joint stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0001387
14 abnormality of amino acid metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0004337
15 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
16 abnormality of retinal pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007703
17 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000939
18 pulmonary embolism 59 32 frequent (33%) Frequent (79-30%) HP:0002204
19 hemiplegia/hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004374
20 hernia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100790
21 arteriovenous malformation 59 32 frequent (33%) Frequent (79-30%) HP:0100026
22 myopia 59 32 frequent (33%) Frequent (79-30%) HP:0000545
23 venous thrombosis 59 32 frequent (33%) Frequent (79-30%) HP:0004936
24 anorexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002039
25 cerebral ischemia 59 32 frequent (33%) Frequent (79-30%) HP:0002637
26 psychosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000709
27 glaucoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000501
28 retinal detachment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000541
29 arachnodactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001166
30 disproportionate tall stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0001519
31 dental crowding 59 32 hallmark (90%) Very frequent (99-80%) HP:0000678
32 ectopia lentis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001083
33 gastrointestinal hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002239
34 amblyopia 59 32 frequent (33%) Frequent (79-30%) HP:0000646
35 sparse scalp hair 59 32 frequent (33%) Frequent (79-30%) HP:0002209
36 recurrent fractures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002757
37 urticaria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001025
38 intracranial hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002170
39 subcutaneous hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0001933
40 esophageal varix 59 32 occasional (7.5%) Occasional (29-5%) HP:0002040
41 arterial thrombosis 59 32 frequent (33%) Frequent (79-30%) HP:0004420
42 depressivity 32 HP:0000716
43 failure to thrive 32 occasional (7.5%) HP:0001508
44 inguinal hernia 32 HP:0000023
45 thromboembolism 32 HP:0001907
46 myocardial infarction 32 HP:0001658
47 limitation of joint mobility 32 HP:0001376
48 hepatic steatosis 32 HP:0001397
49 elevated hepatic transaminases 59 Occasional (29-5%)
50 pancreatitis 32 HP:0001733

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 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.4 CBS CST3
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 9.4 CBS
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.4 CST3
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 9.4 CBS
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.4 CBS
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 9.4 CST3
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.4 CST3
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-213 9.4 CST3
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.4 CST3
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.4 CST3
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.4 CST3

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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Taurine Approved, Nutraceutical Phase 1, Phase 2 107-35-7 1123

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Oxidative Stress Markers In Inherited Homocystinuria And The Impact Of Taurine Completed NCT01192828 Phase 1, Phase 2 taurine
2 Natural History Study of Cystathionine Beta-synthase Deficiency Homocystinuria (CBSDH) 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:

41
Skin, Liver, Eye, Monocytes, Kidney, Heart, Uterus

Publications for Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

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

(show all 47)
# Title Authors Year
1
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. ( 27778219 )
2017
2
Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy. ( 28275971 )
2017
3
Effect of cadmium administration in hyperhomocysteinemic mice due to cystathionine beta synthase deficiency. ( 27165444 )
2016
4
Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine β-Synthase Deficiency. ( 26639091 )
2015
5
Protein arginine hypomethylation in a mouse model of cystathionine β-synthase deficiency. ( 24532665 )
2014
6
Severe hyperhomocysteinemia due to cystathionine β-synthase deficiency, and Factor V Leiden mutation in a patient with recurrent venous thrombosis. ( 25516723 )
2014
7
Correction of cystathionine β-synthase deficiency in mice by treatment with proteasome inhibitors. ( 23592311 )
2013
8
Cystathionine β-synthase deficiency causes infertility by impairing decidualization and gene expression networks in uterus implantation sites. ( 22617046 )
2012
9
Vascular presentation of cystathionine beta-synthase deficiency in adulthood. ( 20567906 )
2011
10
Vascular complications of cystathionine β-synthase deficiency: future directions for homocysteine-to-hydrogen sulfide research. ( 20971760 )
2011
11
A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency. ( 19819175 )
2010
12
Production of synthetic methionine-free and synthetic methionine-limited alpha casein: protein foodstuff for patients with homocystinuria due to cystathionine beta-synthase deficiency. ( 20033268 )
2010
13
Homocystinuria due to cystathionine beta synthase deficiency. ( 18797062 )
2008
14
Genetic background in apolipoprotein A-I and cystathionine beta-synthase deficiency. ( 18508577 )
2008
15
Cystathionine beta synthase deficiency induces catalase-mediated hydrogen peroxide detoxification in mice liver. ( 18541157 )
2008
16
Asymmetric dimethylarginine in homocystinuria due to cystathionine beta-synthase deficiency: relevance of renal function. ( 16601865 )
2006
17
Cystathionine beta synthase deficiency affects mouse endochondral ossification. ( 15622513 )
2005
18
Cystathionine beta synthase deficiency promotes oxidative stress, fibrosis, and steatosis in mice liver. ( 15887121 )
2005
19
Effects of betaine in a murine model of mild cystathionine-beta-synthase deficiency. ( 15131763 )
2004
20
Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy. ( 14739681 )
2003
21
Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency. ( 12227460 )
2002
22
The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency. ( 11596648 )
2001
23
Homocystinuria due to cystathionine beta-synthase deficiency associated with megaloblastic anaemia. ( 11887982 )
2001
24
Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study. ( 11742888 )
2001
25
Disposition of homocysteine in subjects heterozygous for homocystinuria due to cystathionine beta-synthase deficiency: relationship between genotype and phenotype. ( 11343305 )
2001
26
Methionine transamination in patients with homocystinuria due to cystathionine beta-synthase deficiency. ( 10954028 )
2000
27
Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: effects of homocysteine-lowering therapy. ( 11011851 )
2000
28
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. ( 9819703 )
1998
29
Platelet and monocyte variables in homocystinuria due to cystathionine-beta-synthase deficiency. ( 9175326 )
1997
30
Tyrosinase inhibition due to interaction of homocyst(e)ine with copper: the mechanism for reversible hypopigmentation in homocystinuria due to cystathionine beta-synthase deficiency. ( 7611281 )
1995
31
The molecular basis of homocystinuria due to cystathionine beta- synthase deficiency in Italian families, and report of four novel mutations. ( 7762555 )
1995
32
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. ( 7564249 )
1995
33
Amplification refractory mutation system to identify mutations in cystathionine beta-synthase deficiency. ( 7497621 )
1995
34
Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency. ( 1301198 )
1992
35
In vivo platelet activation in homozygous cystathionine beta-synthase deficiency: a probucol-sensitive phenomenon. ( 1308991 )
1992
36
Free and protein-bound homocysteine and cysteine in cystathionine beta-synthase deficiency: interrelations during short- and long-term changes in plasma concentrations. ( 2761410 )
1989
37
Higher total plasma homocysteine in vitamin B12 deficiency than in heterozygosity for homocystinuria due to cystathionine beta-synthase deficiency. ( 3340005 )
1988
38
Cysteine biosynthesis in Saccharomyces cerevisiae: mutation that confers cystathionine beta-synthase deficiency. ( 3056921 )
1988
39
Psychiatric manifestations of homocystinuria due to cystathionine beta-synthase deficiency: prevalence, natural history, and relationship to neurologic impairment and vitamin B6-responsiveness. ( 3591841 )
1987
40
The natural history of homocystinuria due to cystathionine beta-synthase deficiency. ( 3872065 )
1985
41
Homocystinuria due to cystathionine beta-synthase deficiency--the effects of betaine treatment in pyridoxine-responsive patients. ( 3934499 )
1985
42
Postoperative thromboemboli in cystathionine beta-synthase deficiency. ( 6475731 )
1984
43
Increased plasma copper in patients with homocystinuria due to cystathionine beta-synthase deficiency. ( 6825304 )
1983
44
Immunochemical studies on cultured fibroblasts from patients with homocystinuria due to cystathionine beta-synthase deficiency. ( 7081217 )
1982
45
Accumulation of homocyst(e)ine in vitamin B-6 deficiency: a model for the study of cystathionine beta-synthase deficiency. ( 7097345 )
1982
46
Cystathionine beta-synthase deficiency: differences in thermostability between normal and abnormal enzyme from cultured human cells. ( 652410 )
1978
47
Cystathionine beta-synthase deficiency: observations on the biochemical lesion in a vitamin B6 non-responsive patient. ( 732830 )
1978

Variations for Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

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

75 (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
7 CBS p.Glu144Lys VAR_002177 rs121964966
8 CBS p.Pro145Leu VAR_002178 rs121964963
9 CBS p.Cys165Tyr VAR_002179
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
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
40 CBS p.Glu176Lys VAR_008066
41 CBS p.Val180Ala VAR_008067
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

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

6 (show top 50) (show all 430)
# Gene Variation Type Significance SNP ID Assembly Location
1 CBS NM_000071.2(CBS): c.919G> A (p.Gly307Ser) single nucleotide variant Pathogenic rs121964962 GRCh37 Chromosome 21, 44483098: 44483098
2 CBS NM_000071.2(CBS): c.919G> A (p.Gly307Ser) single nucleotide variant Pathogenic rs121964962 GRCh38 Chromosome 21, 43062988: 43062988
3 CBS NM_000071.2(CBS): c.434C> T (p.Pro145Leu) single nucleotide variant Pathogenic rs121964963 GRCh37 Chromosome 21, 44486370: 44486370
4 CBS NM_000071.2(CBS): c.434C> T (p.Pro145Leu) single nucleotide variant Pathogenic rs121964963 GRCh38 Chromosome 21, 43066260: 43066260
5 CBS NM_000071.2(CBS): c.341C> T (p.Ala114Val) single nucleotide variant Pathogenic/Likely pathogenic rs121964964 GRCh37 Chromosome 21, 44486463: 44486463
6 CBS NM_000071.2(CBS): c.341C> T (p.Ala114Val) single nucleotide variant Pathogenic/Likely pathogenic rs121964964 GRCh38 Chromosome 21, 43066353: 43066353
7 CBS NM_000071.2(CBS): c.833T> C (p.Ile278Thr) single nucleotide variant Pathogenic rs5742905 GRCh37 Chromosome 21, 44483184: 44483184
8 CBS NM_000071.2(CBS): c.833T> C (p.Ile278Thr) single nucleotide variant Pathogenic rs5742905 GRCh38 Chromosome 21, 43063074: 43063074
9 CBS NM_000071.2(CBS): c.430G> A (p.Glu144Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121964966 GRCh37 Chromosome 21, 44486374: 44486374
10 CBS NM_000071.2(CBS): c.430G> A (p.Glu144Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121964966 GRCh38 Chromosome 21, 43066264: 43066264
11 CBS NM_000071.2(CBS): c.1616T> C (p.Leu539Ser) single nucleotide variant Uncertain significance rs121964968 GRCh37 Chromosome 21, 44474030: 44474030
12 CBS NM_000071.2(CBS): c.1616T> C (p.Leu539Ser) single nucleotide variant Uncertain significance rs121964968 GRCh38 Chromosome 21, 43053920: 43053920
13 CBS NM_000071.2(CBS): c.797G> A (p.Arg266Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121964969 GRCh37 Chromosome 21, 44484041: 44484041
14 CBS NM_000071.2(CBS): c.797G> A (p.Arg266Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121964969 GRCh38 Chromosome 21, 43063931: 43063931
15 CBS NM_000071.2(CBS): c.1330G> A (p.Asp444Asn) single nucleotide variant Pathogenic/Likely pathogenic rs28934891 GRCh37 Chromosome 21, 44478972: 44478972
16 CBS NM_000071.2(CBS): c.1330G> A (p.Asp444Asn) single nucleotide variant Pathogenic/Likely pathogenic rs28934891 GRCh38 Chromosome 21, 43058862: 43058862
17 CBS NM_000071.2(CBS): c.502G> A (p.Val168Met) single nucleotide variant Conflicting interpretations of pathogenicity rs121964970 GRCh37 Chromosome 21, 44485755: 44485755
18 CBS NM_000071.2(CBS): c.502G> A (p.Val168Met) single nucleotide variant Conflicting interpretations of pathogenicity rs121964970 GRCh38 Chromosome 21, 43065645: 43065645
19 CBS NM_000071.2(CBS): c.1224-2A> C single nucleotide variant Pathogenic rs375846341 GRCh37 Chromosome 21, 44479080: 44479080
20 CBS NM_000071.2(CBS): c.1224-2A> C single nucleotide variant Pathogenic rs375846341 GRCh38 Chromosome 21, 43058970: 43058970
21 CBS NM_000071.2(CBS): c.1265C> T (p.Pro422Leu) single nucleotide variant Uncertain significance rs28934892 GRCh37 Chromosome 21, 44479037: 44479037
22 CBS NM_000071.2(CBS): c.1265C> T (p.Pro422Leu) single nucleotide variant Uncertain significance rs28934892 GRCh38 Chromosome 21, 43058927: 43058927
23 CBS NM_000071.2(CBS): c.1397C> T (p.Ser466Leu) single nucleotide variant Uncertain significance rs121964971 GRCh37 Chromosome 21, 44478325: 44478325
24 CBS NM_000071.2(CBS): c.1397C> T (p.Ser466Leu) single nucleotide variant Uncertain significance rs121964971 GRCh38 Chromosome 21, 43058215: 43058215
25 CBS NM_000071.2(CBS): c.1058C> T (p.Thr353Met) single nucleotide variant Pathogenic/Likely pathogenic rs121964972 GRCh37 Chromosome 21, 44480638: 44480638
26 CBS NM_000071.2(CBS): c.1058C> T (p.Thr353Met) single nucleotide variant Pathogenic/Likely pathogenic rs121964972 GRCh38 Chromosome 21, 43060528: 43060528
27 CBS NM_000071.2(CBS): c.572C> T (p.Thr191Met) single nucleotide variant Pathogenic rs121964973 GRCh37 Chromosome 21, 44485591: 44485591
28 CBS NM_000071.2(CBS): c.572C> T (p.Thr191Met) single nucleotide variant Pathogenic rs121964973 GRCh38 Chromosome 21, 43065481: 43065481
29 CBS NM_000071.2(CBS): c.1006C> T (p.Arg336Cys) single nucleotide variant Pathogenic rs398123151 GRCh37 Chromosome 21, 44482454: 44482454
30 CBS NM_000071.2(CBS): c.1006C> T (p.Arg336Cys) single nucleotide variant Pathogenic rs398123151 GRCh38 Chromosome 21, 43062344: 43062344
31 CBS NM_000071.2(CBS): c.1080C> T (p.Ala360=) single nucleotide variant Benign rs1801181 GRCh37 Chromosome 21, 44480616: 44480616
32 CBS NM_000071.2(CBS): c.1080C> T (p.Ala360=) single nucleotide variant Benign rs1801181 GRCh38 Chromosome 21, 43060506: 43060506
33 CBS NM_000071.2(CBS): c.435G> A (p.Pro145=) single nucleotide variant Conflicting interpretations of pathogenicity rs148782895 GRCh37 Chromosome 21, 44486369: 44486369
34 CBS NM_000071.2(CBS): c.435G> A (p.Pro145=) single nucleotide variant Conflicting interpretations of pathogenicity rs148782895 GRCh38 Chromosome 21, 43066259: 43066259
35 CBS NM_000071.2(CBS): c.699C> T (p.Tyr233=) single nucleotide variant Benign rs234706 GRCh37 Chromosome 21, 44485350: 44485350
36 CBS NM_000071.2(CBS): c.699C> T (p.Tyr233=) single nucleotide variant Benign rs234706 GRCh38 Chromosome 21, 43065240: 43065240
37 CBS NM_000071.2(CBS): c.531+11G> A single nucleotide variant Conflicting interpretations of pathogenicity rs186114513 GRCh37 Chromosome 21, 44485715: 44485715
38 CBS NM_000071.2(CBS): c.531+11G> A single nucleotide variant Conflicting interpretations of pathogenicity rs186114513 GRCh38 Chromosome 21, 43065605: 43065605
39 CBS NM_000071.2(CBS): c.573G> A (p.Thr191=) single nucleotide variant Benign/Likely benign rs73906420 GRCh37 Chromosome 21, 44485590: 44485590
40 CBS NM_000071.2(CBS): c.573G> A (p.Thr191=) single nucleotide variant Benign/Likely benign rs73906420 GRCh38 Chromosome 21, 43065480: 43065480
41 CBS NM_000071.2(CBS): c.636C> T (p.Asn212=) single nucleotide variant Conflicting interpretations of pathogenicity rs2298758 GRCh37 Chromosome 21, 44485527: 44485527
42 CBS NM_000071.2(CBS): c.636C> T (p.Asn212=) single nucleotide variant Conflicting interpretations of pathogenicity rs2298758 GRCh38 Chromosome 21, 43065417: 43065417
43 CBS NM_000071.2(CBS): c.954+8G> A single nucleotide variant Conflicting interpretations of pathogenicity rs76292057 GRCh37 Chromosome 21, 44483055: 44483055
44 CBS NM_000071.2(CBS): c.954+8G> A single nucleotide variant Conflicting interpretations of pathogenicity rs76292057 GRCh38 Chromosome 21, 43062945: 43062945
45 CBS NM_000071.2(CBS): c.1145+7C> T single nucleotide variant Benign/Likely benign rs201158177 GRCh37 Chromosome 21, 44480544: 44480544
46 CBS NM_000071.2(CBS): c.1145+7C> T single nucleotide variant Benign/Likely benign rs201158177 GRCh38 Chromosome 21, 43060434: 43060434
47 CBS NM_000071.2(CBS): c.304A> C (p.Lys102Gln) single nucleotide variant Benign/Likely benign rs34040148 GRCh37 Chromosome 21, 44488631: 44488631
48 CBS NM_000071.2(CBS): c.304A> C (p.Lys102Gln) single nucleotide variant Benign/Likely benign rs34040148 GRCh38 Chromosome 21, 43068521: 43068521
49 CBS NM_000071.2(CBS): c.1566delG (p.Lys523Serfs) deletion Likely pathogenic rs786204466 GRCh37 Chromosome 21, 44474080: 44474080
50 CBS NM_000071.2(CBS): c.1566delG (p.Lys523Serfs) deletion Likely pathogenic rs786204466 GRCh38 Chromosome 21, 43053970: 43053970

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 CBS TYR

GO Terms for Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

Sources for Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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44 MeSH
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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