MCID: HMC030
MIFTS: 35

Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

Aliases & Classifications for Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

Summaries for Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

MalaCards based summary : Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency, also known as classic homocystinuria, is related to homocystinuria due to cystathionine beta-synthase deficiency and homocystinuria, and has symptoms including seizures An important gene associated with Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency is CBS (Cystathionine Beta-Synthase). The drugs Acetylcysteine and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include liver, and related phenotypes are intellectual disability and abnormality of amino acid metabolism

GeneReviews: NBK1524

Related Diseases for Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

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

(show all 28)
# Related Disease Score Top Affiliating Genes
1 homocystinuria due to cystathionine beta-synthase deficiency 29.9 PKHD1 CBS
2 homocystinuria 10.5
3 pectus excavatum 10.3
4 alacrima, achalasia, and mental retardation syndrome 10.3
5 isolated ectopia lentis 10.3
6 myopia 10.3
7 pancytopenia 10.3
8 dystonia 10.3
9 hypopigmentation of the skin 10.3
10 autosomal recessive disease 10.0
11 keratoconus 10.0
12 nephrolithiasis, calcium oxalate 9.9
13 type 1 diabetes mellitus 9.9
14 hyperoxaluria, primary, type i 9.9
15 astigmatism 9.9
16 homocysteinemia 9.9
17 orthostatic intolerance 9.9
18 cardiac arrest 9.9
19 mitral valve insufficiency 9.9
20 irregular astigmatism 9.9
21 primary hyperoxaluria 9.9
22 tricuspid valve insufficiency 9.9
23 peripheral nervous system disease 9.9
24 nephrolithiasis 9.9
25 inherited metabolic disorder 9.9
26 chronic kidney disease 9.9
27 neuropathy 9.9
28 bronchiectasis 9.9

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



Diseases related to Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

Symptoms & Phenotypes for Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

Human phenotypes related to Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency:

31 (show all 41)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 hallmark (90%) HP:0001249
2 abnormality of amino acid metabolism 31 hallmark (90%) HP:0004337
3 osteoporosis 31 hallmark (90%) HP:0000939
4 arachnodactyly 31 hallmark (90%) HP:0001166
5 disproportionate tall stature 31 hallmark (90%) HP:0001519
6 dental crowding 31 hallmark (90%) HP:0000678
7 ectopia lentis 31 hallmark (90%) HP:0001083
8 recurrent fractures 31 hallmark (90%) HP:0002757
9 scoliosis 31 frequent (33%) HP:0002650
10 kyphosis 31 frequent (33%) HP:0002808
11 hypertension 31 frequent (33%) HP:0000822
12 pectus carinatum 31 frequent (33%) HP:0000768
13 joint stiffness 31 frequent (33%) HP:0001387
14 genu valgum 31 frequent (33%) HP:0002857
15 arteriovenous malformation 31 frequent (33%) HP:0100026
16 myopia 31 frequent (33%) HP:0000545
17 pectus excavatum 31 frequent (33%) HP:0000767
18 venous thrombosis 31 frequent (33%) HP:0004936
19 amblyopia 31 frequent (33%) HP:0000646
20 sparse scalp hair 31 frequent (33%) HP:0002209
21 cerebral ischemia 31 frequent (33%) HP:0002637
22 pulmonary embolism 31 frequent (33%) HP:0002204
23 arterial thrombosis 31 frequent (33%) HP:0004420
24 high palate 31 occasional (7.5%) HP:0000218
25 cataract 31 occasional (7.5%) HP:0000518
26 hepatomegaly 31 occasional (7.5%) HP:0002240
27 optic atrophy 31 occasional (7.5%) HP:0000648
28 abnormality of retinal pigmentation 31 occasional (7.5%) HP:0007703
29 hernia 31 occasional (7.5%) HP:0100790
30 elevated hepatic transaminase 31 occasional (7.5%) HP:0002910
31 hemiplegia/hemiparesis 31 occasional (7.5%) HP:0004374
32 anorexia 31 occasional (7.5%) HP:0002039
33 glaucoma 31 occasional (7.5%) HP:0000501
34 retinal detachment 31 occasional (7.5%) HP:0000541
35 gastrointestinal hemorrhage 31 occasional (7.5%) HP:0002239
36 urticaria 31 occasional (7.5%) HP:0001025
37 intracranial hemorrhage 31 occasional (7.5%) HP:0002170
38 psychosis 31 occasional (7.5%) HP:0000709
39 subcutaneous hemorrhage 31 occasional (7.5%) HP:0001933
40 esophageal varix 31 occasional (7.5%) HP:0002040
41 seizure 31 occasional (7.5%) HP:0001250

UMLS symptoms related to Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency:


seizures

Drugs & Therapeutics for Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

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

(show all 16)
# 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 Antidotes Phase 1, Phase 2
6 Analgesics, Non-Narcotic Phase 1, Phase 2
7 Respiratory System Agents Phase 1, Phase 2
8 Analgesics Phase 1, Phase 2
9 Protective Agents Phase 1, Phase 2
10 Expectorants Phase 1, Phase 2
11 N-monoacetylcystine Phase 1, Phase 2
12 Antioxidants Phase 1, Phase 2
13 Antiviral Agents Phase 1, Phase 2
14 Liver Extracts Phase 1, Phase 2
15 Antipyretics Phase 1, Phase 2
16 Anti-Infective Agents Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 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

Search NIH Clinical Center for Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

Genetic Tests for Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

Genetic tests related to Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency:

# Genetic test Affiliating Genes
1 Classic Homocystinuria 29 CBS

Anatomical Context for Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

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

40
Liver

Publications for Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

Articles related to Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency:

(show top 50) (show all 176)
# Title Authors PMID Year
1
Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards. 61 6 25
19914636 2010
2
Birth prevalence of homocystinuria. 61 25 6
15192637 2004
3
Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency. 6 25 61
12552044 2003
4
Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS. 25 6
25218699 2015
5
A forgotten lethal psychosis: a case report. 25 6
23812867 2014
6
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients. 25 6
23974653 2014
7
High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands. 6 25
24211323 2014
8
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients. 25 6
21520339 2011
9
Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency. 6 25
20821054 2011
10
Vascular presentation of cystathionine beta-synthase deficiency in adulthood. 6 25
20567906 2011
11
A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency. 25 6
19819175 2010
12
The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype. 6 25
15365998 2004
13
The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria. 6 25
14722927 2004
14
CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations. 6 25
14722619 2004
15
Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype. 6 25
14635102 2003
16
Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S. 25 6
12815602 2003
17
The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment. 6 25
12124992 2002
18
High prevalence of the I278T mutation of the human cystathionine beta-synthase detected by a novel screening application. 25 6
11434706 2001
19
Disposition of homocysteine in subjects heterozygous for homocystinuria due to cystathionine beta-synthase deficiency: relationship between genotype and phenotype. 25 6
11343305 2001
20
Cystathionine beta-synthase mutations in homocystinuria. 25 6
10338090 1999
21
Cerebral venous sinus thrombosis due to hyperhomocysteinemia with cystathionine-β-synthase (CBS) gene mutation: A case report. 6
30732165 2019
22
Severe Hyperhomocysteinemia with Two Novel Mutations of c.154T>C and c.457G>A in Cystathionine Beta-Synthase Gene. 6
30246729 2018
23
Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization. 6
29326875 2018
24
CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients. 6
29352562 2018
25
Isolated aortic root dilation in homocystinuria. 6
28980096 2018
26
The c.797 G>A (p.R266K) cystathionine β-synthase mutation causes homocystinuria by affecting protein stability. 6
28488385 2017
27
Case 34-2016. A 17-Year-Old Boy with Myopia and Craniofacial and Skeletal Abnormalities. 6
27959664 2016
28
Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C. 6
26464485 2015
29
Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate. 6
25331909 2015
30
Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins. 6
25044645 2014
31
Structural insight into the molecular mechanism of allosteric activation of human cystathionine β-synthase by S-adenosylmethionine. 6
25197074 2014
32
[Pulmonary embolism in young adults. Think of homocysteine]. 6
24613005 2014
33
Severe hyperhomocysteinemia due to cystathionine β-synthase deficiency, and Factor V Leiden mutation in a patient with recurrent venous thrombosis. 6
25516723 2014
34
Cystathionine beta-synthase deficiency heralded by cerebral sinus venous thrombosis and stroke. 6
24138954 2014
35
Characterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for wild-type and mutant proteins. 6
23981774 2013
36
Correction of cystathionine β-synthase deficiency in mice by treatment with proteasome inhibitors. 6
23592311 2013
37
Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family. 6
23733603 2013
38
Human cystathionine β-synthase (CBS) contains two classes of binding sites for S-adenosylmethionine (SAM): complex regulation of CBS activity and stability by SAM. 6
22985361 2013
39
Allosteric communication between the pyridoxal 5'-phosphate (PLP) and heme sites in the H2S generator human cystathionine β-synthase. 6
22977242 2012
40
Effect of the disease-causing R266K mutation on the heme and PLP environments of human cystathionine β-synthase. 6
22738154 2012
41
Conformational properties of nine purified cystathionine β-synthase mutants. 6
22612060 2012
42
Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria. 6
21517828 2012
43
Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders. 6
22382802 2012
44
Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts. 6
22069143 2012
45
Homocystinuria in Taiwan: an inordinately high prevalence in an Austronesian aboriginal tribe, Tao. 6
22353391 2012
46
Surrogate genetics and metabolic profiling for characterization of human disease alleles. 6
22267502 2012
47
Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones. 6
20490928 2011
48
Increased homocysteine in a patient diagnosed with Marfan syndrome. 6
21030686 2010
49
Acute liver failure and reversible leukoencephalopathy in a pediatric patient with homocystinuria. 6
20871414 2010
50
Abstracts of the Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Istanbul, Turkey. August 31-September 3, 2010. 6
20694756 2010

Variations for Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

ClinVar genetic disease variations for Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency:

6 (show top 50) (show all 393)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CBS NM_000071.2(CBS):c.19dup (p.Gln7fs) Duplication Pathogenic 371345 rs748695461 GRCh37: 21:44492284-44492285
GRCh38: 21:43072174-43072175
2 CBS NM_000071.2(CBS):c.954+1G>A SNV Pathogenic 371568 rs1057517373 GRCh37: 21:44483062-44483062
GRCh38: 21:43062952-43062952
3 CBS NM_000071.2(CBS):c.738delG Deletion Pathogenic 370105 rs766453711 GRCh37: 21:44484100-44484100
GRCh38: 21:43063990-43063990
4 CBS NC_000021.9:g.(?_43058125)_(43065715_?)del Deletion Pathogenic 471352 GRCh37: 21:44478235-44485825
GRCh38: 21:43058125-43065715
5 CBS NM_000071.2(CBS):c.992C>A (p.Ala331Glu) SNV Pathogenic 212857 rs777919630 GRCh37: 21:44482468-44482468
GRCh38: 21:43062358-43062358
6 CBS NM_000071.2(CBS):c.284T>C (p.Ile95Thr) SNV Pathogenic 471361 rs1347662650 GRCh37: 21:44488651-44488651
GRCh38: 21:43068541-43068541
7 CBS NM_000071.2(CBS):c.904G>A (p.Glu302Lys) SNV Pathogenic 496864 rs779270933 GRCh37: 21:44483113-44483113
GRCh38: 21:43063003-43063003
8 CBS NM_000071.2(CBS):c.816T>A (p.Cys272Ter) SNV Pathogenic 439461 rs528689432 GRCh37: 21:44484022-44484022
GRCh38: 21:43063912-43063912
9 CBS NM_000071.2(CBS):c.536_553del (p.Asp179_Leu184del) Deletion Pathogenic 198388 rs794727835 GRCh37: 21:44485610-44485627
GRCh38: 21:43065500-43065517
10 CBS NM_000071.2(CBS):c.457G>A (p.Gly153Arg) SNV Pathogenic 212846 rs745704046 GRCh37: 21:44485800-44485800
GRCh38: 21:43065690-43065690
11 CBS NM_000071.2(CBS):c.452-153_624dup Duplication Pathogenic 571387 rs1568932440 GRCh37: 21:44485538-44485539
GRCh38: 21:43065428-43065429
12 CBS NM_000071.2(CBS):c.494G>A (p.Cys165Tyr) SNV Pathogenic 495531 rs1347651454 GRCh37: 21:44485763-44485763
GRCh38: 21:43065653-43065653
13 CBS NM_000071.2(CBS):c.1126G>A (p.Asp376Asn) SNV Pathogenic 647345 rs1170128038 GRCh37: 21:44480570-44480570
GRCh38: 21:43060460-43060460
14 CBS NM_000071.2(CBS):c.1223+1G>T SNV Pathogenic 650962 rs1601339216 GRCh37: 21:44479335-44479335
GRCh38: 21:43059225-43059225
15 CBS NM_000071.3(CBS):c.1152G>C (p.Lys384Asn) SNV Pathogenic 813502 rs1304669003 GRCh37: 21:44479407-44479407
GRCh38: 21:43059297-43059297
16 CBS NM_000071.3(CBS):c.19del (p.Gln7fs) Deletion Pathogenic 859549 GRCh37: 21:44492285-44492285
GRCh38: 21:43072175-43072175
17 CBS NM_000071.3(CBS):c.1226G>A (p.Trp409Ter) SNV Pathogenic 860504 GRCh37: 21:44479076-44479076
GRCh38: 21:43058966-43058966
18 CBS NM_000071.3(CBS):c.451G>A (p.Gly151Arg) SNV Pathogenic 863694 GRCh37: 21:44486353-44486353
GRCh38: 21:43066243-43066243
19 CBS NM_000071.3(CBS):c.156C>A (p.Cys52Ter) SNV Pathogenic 863695 GRCh37: 21:44492148-44492148
GRCh38: 21:43072038-43072038
20 CBS NM_000071.2(CBS):c.1005_1006delinsTT (p.Arg336Cys) Indel Pathogenic 419185 rs1064793703 GRCh37: 21:44482454-44482455
GRCh38: 21:43062344-43062345
21 CBS NM_000071.3(CBS):c.1227G>A (p.Trp409Ter) SNV Pathogenic 947601 GRCh37: 21:44479075-44479075
GRCh38: 21:43058965-43058965
22 CBS NM_000071.3(CBS):c.429C>G (p.Ile143Met) SNV Pathogenic 952410 GRCh37: 21:44486375-44486375
GRCh38: 21:43066265-43066265
23 CBS NM_000071.3(CBS):c.941T>C (p.Val314Ala) SNV Pathogenic 978771 GRCh37: 21:44483076-44483076
GRCh38: 21:43062966-43062966
24 CBS NM_000071.2(CBS):c.526G>A (p.Glu176Lys) SNV Pathogenic 633144 rs762065361 GRCh37: 21:44485731-44485731
GRCh38: 21:43065621-43065621
25 CBS NM_000071.3(CBS):c.476_477insCAGGGCCC (p.Val160fs) Insertion Pathogenic 972531 GRCh37: 21:44485780-44485781
GRCh38: 21:43065670-43065671
26 CBS NM_000071.2(CBS):c.1006C>T (p.Arg336Cys) SNV Pathogenic 92423 rs398123151 GRCh37: 21:44482454-44482454
GRCh38: 21:43062344-43062344
27 CBS NM_000071.3(CBS):c.833T>C (p.Ile278Thr) SNV Pathogenic 120 rs5742905 GRCh37: 21:44483184-44483184
GRCh38: 21:43063074-43063074
28 CBS NM_000071.3(CBS):c.919G>A (p.Gly307Ser) SNV Pathogenic 117 rs121964962 GRCh37: 21:44483098-44483098
GRCh38: 21:43062988-43062988
29 CBS NM_000071.2(CBS):c.1224-2A>C SNV Pathogenic 128 rs375846341 GRCh37: 21:44479080-44479080
GRCh38: 21:43058970-43058970
30 CBS NM_000071.2(CBS):c.374G>A (p.Arg125Gln) SNV Pathogenic 197625 rs781444670 GRCh37: 21:44486430-44486430
GRCh38: 21:43066320-43066320
31 CBS NM_001178009.3(CBS):c.969G>A (p.Trp323Ter) SNV Pathogenic 212856 rs863223432 GRCh37: 21:44482491-44482491
GRCh38: 21:43062381-43062381
32 CBS NM_000071.2(CBS):c.325T>C (p.Cys109Arg) SNV Pathogenic 212878 rs778220779 GRCh37: 21:44486479-44486479
GRCh38: 21:43066369-43066369
33 CBS NM_000071.2(CBS):c.572C>T (p.Thr191Met) SNV Pathogenic 132 rs121964973 GRCh37: 21:44485591-44485591
GRCh38: 21:43065481-43065481
34 CBS NM_000071.2(CBS):c.253G>A (p.Gly85Arg) SNV Pathogenic 212874 rs863223435 GRCh37: 21:44488682-44488682
GRCh38: 21:43068572-43068572
35 CBS NM_000071.2:c.832_833insCTGGGGTGGATCA Insertion Pathogenic 1030579 GRCh37: 21:44483184-44483185
GRCh38: 21:43063074-43063075
36 CBS NM_000071.2(CBS):c.828+1G>A SNV Pathogenic/Likely pathogenic 556952 rs763290176 GRCh37: 21:44484009-44484009
GRCh38: 21:43063899-43063899
37 CBS NM_000071.2(CBS):c.341C>T (p.Ala114Val) SNV Pathogenic/Likely pathogenic 119 rs121964964 GRCh37: 21:44486463-44486463
GRCh38: 21:43066353-43066353
38 CBS NM_000071.2(CBS):c.1007G>A (p.Arg336His) SNV Pathogenic/Likely pathogenic 371147 rs760417941 GRCh37: 21:44482453-44482453
GRCh38: 21:43062343-43062343
39 CBS NM_000071.2(CBS):c.1330G>A (p.Asp444Asn) SNV Pathogenic/Likely pathogenic 126 rs28934891 GRCh37: 21:44478972-44478972
GRCh38: 21:43058862-43058862
40 CBS NM_000071.2(CBS):c.1039G>A (p.Gly347Ser) SNV Pathogenic/Likely pathogenic 188801 rs771298943 GRCh37: 21:44482421-44482421
GRCh38: 21:43062311-43062311
41 CBS NM_000071.2(CBS):c.362G>A (p.Arg121His) SNV Pathogenic/Likely pathogenic 188948 rs770095972 GRCh37: 21:44486442-44486442
GRCh38: 21:43066332-43066332
42 CBS NM_000071.2(CBS):c.1058C>T (p.Thr353Met) SNV Pathogenic/Likely pathogenic 131 rs121964972 GRCh37: 21:44480638-44480638
GRCh38: 21:43060528-43060528
43 CBS NM_000071.2(CBS):c.146C>T (p.Pro49Leu) SNV Pathogenic/Likely pathogenic 212872 rs148865119 GRCh37: 21:44492158-44492158
GRCh38: 21:43072048-43072048
44 CBS NM_000071.2(CBS):c.737-1G>C SNV Pathogenic/Likely pathogenic 471366 rs757428597 GRCh37: 21:44484102-44484102
GRCh38: 21:43063992-43063992
45 CBS NM_000071.2(CBS):c.1221del (p.Trp408fs) Deletion Pathogenic/Likely pathogenic 495530 rs1361324844 GRCh37: 21:44479338-44479338
GRCh38: 21:43059228-43059228
46 CBS NM_000071.2(CBS):c.434C>T (p.Pro145Leu) SNV Pathogenic/Likely pathogenic 118 rs121964963 GRCh37: 21:44486370-44486370
GRCh38: 21:43066260-43066260
47 CBS NM_000071.2(CBS):c.361C>T (p.Arg121Cys) SNV Pathogenic/Likely pathogenic 212842 rs775992753 GRCh37: 21:44486443-44486443
GRCh38: 21:43066333-43066333
48 CBS NM_000071.2(CBS):c.1111G>A (p.Val371Met) SNV Pathogenic/Likely pathogenic 212862 rs372010465 GRCh37: 21:44480585-44480585
GRCh38: 21:43060475-43060475
49 CBS NM_000071.2(CBS):c.676G>A (p.Ala226Thr) SNV Pathogenic/Likely pathogenic 370382 rs763835246 GRCh37: 21:44485373-44485373
GRCh38: 21:43065263-43065263
50 CBS NM_000071.2(CBS):c.442G>A (p.Gly148Arg) SNV Pathogenic/Likely pathogenic 371512 rs755952006 GRCh37: 21:44486362-44486362
GRCh38: 21:43066252-43066252

Expression for Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

Search GEO for disease gene expression data for Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency.

Pathways for Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

GO Terms for Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

Sources for Homocystinuria Caused by 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
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35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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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
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69 Tocris
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71 UMLS via Orphanet
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