MCID: HMC040
MIFTS: 44

Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

Categories: Genetic diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Fetal diseases, Rare diseases, Blood 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 homocystinuria caused by cystathionine beta-synthase deficiency and homocystinuria due to cbs 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 high palate and glaucoma

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:

# Related Disease Score Top Affiliating Genes
1 homocystinuria caused by cystathionine beta-synthase deficiency 12.5
2 homocystinuria due to cbs deficiency 11.9
3 homocystinuria 10.8
4 vitamin b12 deficiency 10.2
5 acute kidney tubular necrosis 9.5 CST3 TYR
6 acute kidney failure 9.4 CST3 TYR
7 vascular disease 9.2 CBS CST3
8 coronary artery anomaly 9.1 CBS CST3
9 myocardial infarction 8.9 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 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 59 32 Occasional (29-5%) HP:0000218
2 glaucoma 59 32 Occasional (29-5%) HP:0000501
3 myopia 59 32 Frequent (79-30%) HP:0000545
4 dental crowding 59 32 Very frequent (99-80%) HP:0000678
5 behavioral abnormality 59 32 Occasional (29-5%) HP:0000708
6 pectus excavatum 59 32 Frequent (79-30%) HP:0000767
7 pectus carinatum 59 32 Frequent (79-30%) HP:0000768
8 osteoporosis 59 32 Very frequent (99-80%) HP:0000939
9 ectopia lentis 59 32 Very frequent (99-80%) HP:0001083
10 arachnodactyly 59 32 Very frequent (99-80%) HP:0001166
11 intellectual disability 59 32 Very frequent (99-80%) HP:0001249
12 seizures 59 32 Occasional (29-5%) HP:0001250
13 disproportionate tall stature 59 32 Very frequent (99-80%) HP:0001519
14 cataract 59 Occasional (29-5%)
15 retinal detachment 59 Occasional (29-5%)
16 amblyopia 59 Frequent (79-30%)
17 optic atrophy 59 Occasional (29-5%)
18 psychosis 59 Occasional (29-5%)
19 hypertension 59 Frequent (79-30%)
20 urticaria 59 Occasional (29-5%)
21 joint stiffness 59 Frequent (79-30%)
22 subcutaneous hemorrhage 59 Occasional (29-5%)
23 anorexia 59 Occasional (29-5%)
24 esophageal varix 59 Occasional (29-5%)
25 intracranial hemorrhage 59 Occasional (29-5%)
26 pulmonary embolism 59 Frequent (79-30%)
27 sparse scalp hair 59 Frequent (79-30%)
28 gastrointestinal hemorrhage 59 Occasional (29-5%)
29 hepatomegaly 59 Occasional (29-5%)
30 cerebral ischemia 59 Frequent (79-30%)
31 scoliosis 59 Frequent (79-30%)
32 recurrent fractures 59 Very frequent (99-80%)
33 kyphosis 59 Frequent (79-30%)
34 genu valgum 59 Frequent (79-30%)
35 elevated hepatic transaminases 59 Occasional (29-5%)
36 abnormality of amino acid metabolism 59 Very frequent (99-80%)
37 hemiplegia/hemiparesis 59 Occasional (29-5%)
38 arterial thrombosis 59 Frequent (79-30%)
39 venous thrombosis 59 Frequent (79-30%)
40 abnormality of retinal pigmentation 59 Occasional (29-5%)
41 arteriovenous malformation 59 Frequent (79-30%)
42 hernia 59 Occasional (29-5%)
43 inguinal hernia 32 HP:0000023
44 depressivity 32 HP:0000716
45 cutis marmorata 32 HP:0000965
46 hypopigmentation of the skin 32 HP:0001010
47 stroke 32 HP:0001297
48 limitation of joint mobility 32 HP:0001376
49 hepatic steatosis 32 HP:0001397
50 failure to thrive 32 occasional (7.5%) HP:0001508

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

Publications for Homocystinuria Due to Cystathionine Beta-Synthase Deficiency

Articles related to Homocystinuria Due to Cystathionine Beta-Synthase 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 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 290)
# 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.1397C> T (p.Ser466Leu) single nucleotide variant Pathogenic rs121964971 GRCh37 Chromosome 21, 44478325: 44478325
18 CBS NM_000071.2(CBS): c.1397C> T (p.Ser466Leu) single nucleotide variant Pathogenic rs121964971 GRCh38 Chromosome 21, 43058215: 43058215
19 CBS NM_000071.2(CBS): c.1058C> T (p.Thr353Met) single nucleotide variant Pathogenic/Likely pathogenic rs121964972 GRCh37 Chromosome 21, 44480638: 44480638
20 CBS NM_000071.2(CBS): c.1058C> T (p.Thr353Met) single nucleotide variant Pathogenic/Likely pathogenic rs121964972 GRCh38 Chromosome 21, 43060528: 43060528
21 CBS NM_000071.2(CBS): c.572C> T (p.Thr191Met) single nucleotide variant Pathogenic rs121964973 GRCh37 Chromosome 21, 44485591: 44485591
22 CBS NM_000071.2(CBS): c.572C> T (p.Thr191Met) single nucleotide variant Pathogenic rs121964973 GRCh38 Chromosome 21, 43065481: 43065481
23 CBS NM_000071.2(CBS): c.1006C> T (p.Arg336Cys) single nucleotide variant Pathogenic rs398123151 GRCh37 Chromosome 21, 44482454: 44482454
24 CBS NM_000071.2(CBS): c.1006C> T (p.Arg336Cys) single nucleotide variant Pathogenic rs398123151 GRCh38 Chromosome 21, 43062344: 43062344
25 CBS NM_000071.2(CBS): c.1358+1G> A single nucleotide variant Likely pathogenic rs786204679 GRCh38 Chromosome 21, 43058833: 43058833
26 CBS NM_000071.2(CBS): c.1566delG (p.Lys523Serfs) deletion Likely pathogenic rs786204466 GRCh37 Chromosome 21, 44474080: 44474080
27 CBS NM_000071.2(CBS): c.1566delG (p.Lys523Serfs) deletion Likely pathogenic rs786204466 GRCh38 Chromosome 21, 43053970: 43053970
28 CBS NM_000071.2(CBS): c.1358+1G> A single nucleotide variant Likely pathogenic rs786204679 GRCh37 Chromosome 21, 44478943: 44478943
29 CBS NM_000071.2(CBS): c.1316G> A (p.Arg439Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs756467921 GRCh37 Chromosome 21, 44478986: 44478986
30 CBS NM_000071.2(CBS): c.1316G> A (p.Arg439Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs756467921 GRCh38 Chromosome 21, 43058876: 43058876
31 CBS NM_000071.2(CBS): c.1136G> A (p.Arg379Gln) single nucleotide variant Pathogenic/Likely pathogenic rs763036586 GRCh37 Chromosome 21, 44480560: 44480560
32 CBS NM_000071.2(CBS): c.1136G> A (p.Arg379Gln) single nucleotide variant Pathogenic/Likely pathogenic rs763036586 GRCh38 Chromosome 21, 43060450: 43060450
33 CBS NM_000071.2(CBS): c.1039G> A (p.Gly347Ser) single nucleotide variant Pathogenic/Likely pathogenic rs771298943 GRCh37 Chromosome 21, 44482421: 44482421
34 CBS NM_000071.2(CBS): c.1039G> A (p.Gly347Ser) single nucleotide variant Pathogenic/Likely pathogenic rs771298943 GRCh38 Chromosome 21, 43062311: 43062311
35 CBS NM_000071.2(CBS): c.770C> T (p.Thr257Met) single nucleotide variant Pathogenic/Likely pathogenic rs758236584 GRCh37 Chromosome 21, 44484068: 44484068
36 CBS NM_000071.2(CBS): c.770C> T (p.Thr257Met) single nucleotide variant Pathogenic/Likely pathogenic rs758236584 GRCh38 Chromosome 21, 43063958: 43063958
37 CBS NM_000071.2(CBS): c.689delT (p.Leu230Argfs) deletion Pathogenic/Likely pathogenic rs775351239 GRCh37 Chromosome 21, 44485360: 44485360
38 CBS NM_000071.2(CBS): c.689delT (p.Leu230Argfs) deletion Pathogenic/Likely pathogenic rs775351239 GRCh38 Chromosome 21, 43065250: 43065250
39 CBS NM_000071.2(CBS): c.667-14_667-7del8 deletion Conflicting interpretations of pathogenicity rs764160782 GRCh37 Chromosome 21, 44485389: 44485396
40 CBS NM_000071.2(CBS): c.667-14_667-7del8 deletion Conflicting interpretations of pathogenicity rs764160782 GRCh38 Chromosome 21, 43065279: 43065286
41 CBS NM_000071.2(CBS): c.362G> A (p.Arg121His) single nucleotide variant Likely pathogenic rs770095972 GRCh38 Chromosome 21, 43066332: 43066332
42 CBS NM_000071.2(CBS): c.362G> A (p.Arg121His) single nucleotide variant Likely pathogenic rs770095972 GRCh37 Chromosome 21, 44486442: 44486442
43 CBS NM_000071.2(CBS): c.346G> A (p.Gly116Arg) single nucleotide variant Likely pathogenic rs760214620 GRCh37 Chromosome 21, 44486458: 44486458
44 CBS NM_000071.2(CBS): c.346G> A (p.Gly116Arg) single nucleotide variant Likely pathogenic rs760214620 GRCh38 Chromosome 21, 43066348: 43066348
45 CBS NM_000071.2(CBS): c.306G> C (p.Lys102Asn) single nucleotide variant Likely pathogenic rs786204609 GRCh37 Chromosome 21, 44488629: 44488629
46 CBS NM_000071.2(CBS): c.306G> C (p.Lys102Asn) single nucleotide variant Likely pathogenic rs786204609 GRCh38 Chromosome 21, 43068519: 43068519
47 CBS NM_000071.2(CBS): c.302T> C (p.Leu101Pro) single nucleotide variant Likely pathogenic rs786204757 GRCh37 Chromosome 21, 44488633: 44488633
48 CBS NM_000071.2(CBS): c.302T> C (p.Leu101Pro) single nucleotide variant Likely pathogenic rs786204757 GRCh38 Chromosome 21, 43068523: 43068523
49 CBS NM_000071.2(CBS): c.233C> G (p.Pro78Arg) single nucleotide variant Likely pathogenic rs786204608 GRCh37 Chromosome 21, 44488702: 44488702
50 CBS NM_000071.2(CBS): c.233C> G (p.Pro78Arg) single nucleotide variant Likely pathogenic rs786204608 GRCh38 Chromosome 21, 43068592: 43068592

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

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

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 8.62 CST3 TYR

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

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 8.62 CBS TYR

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
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....