MCID: HMC016
MIFTS: 20

Homocystinuria Due to Cbs Deficiency

Categories: Rare diseases

Aliases & Classifications for Homocystinuria Due to Cbs Deficiency

MalaCards integrated aliases for Homocystinuria Due to Cbs Deficiency:

Name: Homocystinuria Due to Cbs Deficiency 53 29 6
Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 53
Cystathionine Beta-Synthase Deficiency Disease 73
Cystathionine Beta-Synthase Deficiency 53
Homocystinuria, Due to Cbs Deficiency 40
Cbs Deficiency 53

Classifications:



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UMLS 73 C0751202

Summaries for Homocystinuria Due to Cbs Deficiency

NIH Rare Diseases : 53 Homocystinuria due to CBS deficiency is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. This form of homocystinuria is caused by the lack of an enzyme called cystathionine beta-synthase, which results from a mutation in the CBS gene. It is characterized by dislocation of the lens in the eye, an increased risk of abnormal blood clots, and skeletal abnormalities. Problems with development and learning are also evident in some cases. Homocystinuria due to CBS deficiency is inherited in an autosomal recessive pattern. Treatment aims to correct the biochemical abnormalities, especially to control blood homocystine concentration and prevent thrombosis (blood clots). Vitamin B6 (pyridoxine) therapy, protein-restricted and methionine-restricted diets, betaine treatment, and/or folate and vitamin B12 supplementation may be used to manage the condition.

MalaCards based summary : Homocystinuria Due to Cbs Deficiency, also known as homocystinuria due to cystathionine beta-synthase deficiency, is related to homocystinuria and homocystinuria due to cystathionine beta-synthase deficiency, and has symptoms including seizures An important gene associated with Homocystinuria Due to Cbs Deficiency is CBS (Cystathionine-Beta-Synthase). The drug Taurine has been mentioned in the context of this disorder. Affiliated tissues include eye and monocytes.

Related Diseases for Homocystinuria Due to Cbs Deficiency

Diseases related to Homocystinuria Due to Cbs Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 homocystinuria 11.8
2 homocystinuria due to cystathionine beta-synthase deficiency 11.4

Symptoms & Phenotypes for Homocystinuria Due to Cbs Deficiency

UMLS symptoms related to Homocystinuria Due to Cbs Deficiency:


seizures

Drugs & Therapeutics for Homocystinuria Due to Cbs Deficiency

Drugs for Homocystinuria Due to Cbs 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 Cbs Deficiency

Genetic Tests for Homocystinuria Due to Cbs Deficiency

Genetic tests related to Homocystinuria Due to Cbs Deficiency:

# Genetic test Affiliating Genes
1 Homocystinuria Due to Cbs Deficiency 29 CBS

Anatomical Context for Homocystinuria Due to Cbs Deficiency

MalaCards organs/tissues related to Homocystinuria Due to Cbs Deficiency:

41
Eye, Monocytes

Publications for Homocystinuria Due to Cbs Deficiency

Articles related to Homocystinuria Due to Cbs Deficiency:

(show all 24)
# Title Authors Year
1
A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency. ( 19819175 )
2010
2
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
3
Homocystinuria due to cystathionine beta synthase deficiency. ( 18797062 )
2008
4
Asymmetric dimethylarginine in homocystinuria due to cystathionine beta-synthase deficiency: relevance of renal function. ( 16601865 )
2006
5
Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy. ( 14739681 )
2003
6
Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency. ( 12227460 )
2002
7
The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine beta-synthase deficiency. ( 11596648 )
2001
8
Homocystinuria due to cystathionine beta-synthase deficiency associated with megaloblastic anaemia. ( 11887982 )
2001
9
Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study. ( 11742888 )
2001
10
Disposition of homocysteine in subjects heterozygous for homocystinuria due to cystathionine beta-synthase deficiency: relationship between genotype and phenotype. ( 11343305 )
2001
11
Methionine transamination in patients with homocystinuria due to cystathionine beta-synthase deficiency. ( 10954028 )
2000
12
Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: effects of homocysteine-lowering therapy. ( 11011851 )
2000
13
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
14
Platelet and monocyte variables in homocystinuria due to cystathionine-beta-synthase deficiency. ( 9175326 )
1997
15
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
16
The molecular basis of homocystinuria due to cystathionine beta- synthase deficiency in Italian families, and report of four novel mutations. ( 7762555 )
1995
17
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
18
Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency. ( 1301198 )
1992
19
Higher total plasma homocysteine in vitamin B12 deficiency than in heterozygosity for homocystinuria due to cystathionine beta-synthase deficiency. ( 3340005 )
1988
20
Psychiatric manifestations of homocystinuria due to cystathionine beta-synthase deficiency: prevalence, natural history, and relationship to neurologic impairment and vitamin B6-responsiveness. ( 3591841 )
1987
21
The natural history of homocystinuria due to cystathionine beta-synthase deficiency. ( 3872065 )
1985
22
Homocystinuria due to cystathionine beta-synthase deficiency--the effects of betaine treatment in pyridoxine-responsive patients. ( 3934499 )
1985
23
Increased plasma copper in patients with homocystinuria due to cystathionine beta-synthase deficiency. ( 6825304 )
1983
24
Immunochemical studies on cultured fibroblasts from patients with homocystinuria due to cystathionine beta-synthase deficiency. ( 7081217 )
1982

Variations for Homocystinuria Due to Cbs Deficiency

ClinVar genetic disease variations for Homocystinuria Due to Cbs Deficiency:

6
(show top 50) (show all 288)
# 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.797G> A (p.Arg266Lys) single nucleotide variant Pathogenic rs121964969 GRCh37 Chromosome 21, 44484041: 44484041
12 CBS NM_000071.2(CBS): c.797G> A (p.Arg266Lys) single nucleotide variant Pathogenic rs121964969 GRCh38 Chromosome 21, 43063931: 43063931
13 CBS NM_000071.2(CBS): c.1330G> A (p.Asp444Asn) single nucleotide variant Pathogenic/Likely pathogenic rs28934891 GRCh37 Chromosome 21, 44478972: 44478972
14 CBS NM_000071.2(CBS): c.1330G> A (p.Asp444Asn) single nucleotide variant Pathogenic/Likely pathogenic rs28934891 GRCh38 Chromosome 21, 43058862: 43058862
15 CBS NM_000071.2(CBS): c.1224-2A> C single nucleotide variant Pathogenic rs375846341 GRCh37 Chromosome 21, 44479080: 44479080
16 CBS NM_000071.2(CBS): c.1224-2A> C single nucleotide variant Pathogenic rs375846341 GRCh38 Chromosome 21, 43058970: 43058970
17 CBS NM_000071.2(CBS): c.1058C> T (p.Thr353Met) single nucleotide variant Pathogenic/Likely pathogenic rs121964972 GRCh37 Chromosome 21, 44480638: 44480638
18 CBS NM_000071.2(CBS): c.1058C> T (p.Thr353Met) single nucleotide variant Pathogenic/Likely pathogenic rs121964972 GRCh38 Chromosome 21, 43060528: 43060528
19 CBS NM_000071.2(CBS): c.572C> T (p.Thr191Met) single nucleotide variant Pathogenic rs121964973 GRCh37 Chromosome 21, 44485591: 44485591
20 CBS NM_000071.2(CBS): c.572C> T (p.Thr191Met) single nucleotide variant Pathogenic rs121964973 GRCh38 Chromosome 21, 43065481: 43065481
21 CBS NM_000071.2(CBS): c.1006C> T (p.Arg336Cys) single nucleotide variant Pathogenic rs398123151 GRCh37 Chromosome 21, 44482454: 44482454
22 CBS NM_000071.2(CBS): c.1006C> T (p.Arg336Cys) single nucleotide variant Pathogenic rs398123151 GRCh38 Chromosome 21, 43062344: 43062344
23 CBS NM_000071.2(CBS): c.1358+1G> A single nucleotide variant Likely pathogenic rs786204679 GRCh38 Chromosome 21, 43058833: 43058833
24 CBS NM_000071.2(CBS): c.1566delG (p.Lys523Serfs) deletion Likely pathogenic rs786204466 GRCh37 Chromosome 21, 44474080: 44474080
25 CBS NM_000071.2(CBS): c.1566delG (p.Lys523Serfs) deletion Likely pathogenic rs786204466 GRCh38 Chromosome 21, 43053970: 43053970
26 CBS NM_000071.2(CBS): c.1358+1G> A single nucleotide variant Likely pathogenic rs786204679 GRCh37 Chromosome 21, 44478943: 44478943
27 CBS NM_000071.2(CBS): c.1316G> A (p.Arg439Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs756467921 GRCh37 Chromosome 21, 44478986: 44478986
28 CBS NM_000071.2(CBS): c.1316G> A (p.Arg439Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs756467921 GRCh38 Chromosome 21, 43058876: 43058876
29 CBS NM_000071.2(CBS): c.1136G> A (p.Arg379Gln) single nucleotide variant Pathogenic/Likely pathogenic rs763036586 GRCh37 Chromosome 21, 44480560: 44480560
30 CBS NM_000071.2(CBS): c.1136G> A (p.Arg379Gln) single nucleotide variant Pathogenic/Likely pathogenic rs763036586 GRCh38 Chromosome 21, 43060450: 43060450
31 CBS NM_000071.2(CBS): c.1039G> A (p.Gly347Ser) single nucleotide variant Pathogenic/Likely pathogenic rs771298943 GRCh37 Chromosome 21, 44482421: 44482421
32 CBS NM_000071.2(CBS): c.1039G> A (p.Gly347Ser) single nucleotide variant Pathogenic/Likely pathogenic rs771298943 GRCh38 Chromosome 21, 43062311: 43062311
33 CBS NM_000071.2(CBS): c.770C> T (p.Thr257Met) single nucleotide variant Pathogenic/Likely pathogenic rs758236584 GRCh37 Chromosome 21, 44484068: 44484068
34 CBS NM_000071.2(CBS): c.770C> T (p.Thr257Met) single nucleotide variant Pathogenic/Likely pathogenic rs758236584 GRCh38 Chromosome 21, 43063958: 43063958
35 CBS NM_000071.2(CBS): c.689delT (p.Leu230Argfs) deletion Pathogenic/Likely pathogenic rs775351239 GRCh37 Chromosome 21, 44485360: 44485360
36 CBS NM_000071.2(CBS): c.689delT (p.Leu230Argfs) deletion Pathogenic/Likely pathogenic rs775351239 GRCh38 Chromosome 21, 43065250: 43065250
37 CBS NM_000071.2(CBS): c.667-14_667-7del8 deletion Conflicting interpretations of pathogenicity rs764160782 GRCh37 Chromosome 21, 44485389: 44485396
38 CBS NM_000071.2(CBS): c.667-14_667-7del8 deletion Conflicting interpretations of pathogenicity rs764160782 GRCh38 Chromosome 21, 43065279: 43065286
39 CBS NM_000071.2(CBS): c.362G> A (p.Arg121His) single nucleotide variant Likely pathogenic rs770095972 GRCh38 Chromosome 21, 43066332: 43066332
40 CBS NM_000071.2(CBS): c.362G> A (p.Arg121His) single nucleotide variant Likely pathogenic rs770095972 GRCh37 Chromosome 21, 44486442: 44486442
41 CBS NM_000071.2(CBS): c.346G> A (p.Gly116Arg) single nucleotide variant Likely pathogenic rs760214620 GRCh37 Chromosome 21, 44486458: 44486458
42 CBS NM_000071.2(CBS): c.346G> A (p.Gly116Arg) single nucleotide variant Likely pathogenic rs760214620 GRCh38 Chromosome 21, 43066348: 43066348
43 CBS NM_000071.2(CBS): c.306G> C (p.Lys102Asn) single nucleotide variant Likely pathogenic rs786204609 GRCh37 Chromosome 21, 44488629: 44488629
44 CBS NM_000071.2(CBS): c.306G> C (p.Lys102Asn) single nucleotide variant Likely pathogenic rs786204609 GRCh38 Chromosome 21, 43068519: 43068519
45 CBS NM_000071.2(CBS): c.302T> C (p.Leu101Pro) single nucleotide variant Likely pathogenic rs786204757 GRCh37 Chromosome 21, 44488633: 44488633
46 CBS NM_000071.2(CBS): c.302T> C (p.Leu101Pro) single nucleotide variant Likely pathogenic rs786204757 GRCh38 Chromosome 21, 43068523: 43068523
47 CBS NM_000071.2(CBS): c.233C> G (p.Pro78Arg) single nucleotide variant Likely pathogenic rs786204608 GRCh37 Chromosome 21, 44488702: 44488702
48 CBS NM_000071.2(CBS): c.233C> G (p.Pro78Arg) single nucleotide variant Likely pathogenic rs786204608 GRCh38 Chromosome 21, 43068592: 43068592
49 CBS NM_000071.2(CBS): c.1072G> A (p.Val358Met) single nucleotide variant Uncertain significance rs148589243 GRCh37 Chromosome 21, 44480624: 44480624
50 CBS NM_000071.2(CBS): c.1072G> A (p.Val358Met) single nucleotide variant Uncertain significance rs148589243 GRCh38 Chromosome 21, 43060514: 43060514

Expression for Homocystinuria Due to Cbs Deficiency

Search GEO for disease gene expression data for Homocystinuria Due to Cbs Deficiency.

Pathways for Homocystinuria Due to Cbs Deficiency

GO Terms for Homocystinuria Due to Cbs Deficiency

Sources for Homocystinuria Due to Cbs Deficiency

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