Aliases & Classifications for Homocystinuria

MalaCards integrated aliases for Homocystinuria:

Name: Homocystinuria 12 72 72 49 24 36 28 51 41 14 69
Cystathionine Beta Synthase Deficiency 12 24
Homocysteinemia 24 69
Cystathionine Beta-Synthase Deficiency Disease 69
Cystathionine Synthase Deficiency 12
Cystathionine Beta-Synthase 13
Cbs Deficiency 12

Classifications:



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Disease Ontology 12 DOID:9263
ICD10 32 E72.11
MeSH 41 D006712
NCIt 46 C84765
SNOMED-CT 64 11282001 190709008
KEGG 36 H00183

Summaries for Homocystinuria

NIH Rare Diseases : 49 Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. The most common form, called cystathionine beta-synthase deficiency, is characterized by dislocation of the lens in the eye, an increased risk of abnormal blood clots, skeletal abnormalities, and sometimes problems with development and learning. Less common forms are caused by a lack of other enzymes. These disorders can cause intellectual disability, seizures, problems with movement, and a blood disorder called megaloblastic anemia. Mutations in the CBS, MTHFR, MTR, and MTRR genes cause homocystinuria, and it is inherited in an autosomal recessive manner. Treatment varies depending upon the cause of the disorder. Last updated: 4/12/2011

MalaCards based summary : Homocystinuria, also known as cystathionine beta synthase deficiency, is related to methylmalonic aciduria and homocystinuria, cblc type and homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity, and has symptoms including seizures An important gene associated with Homocystinuria is CBS (Cystathionine-Beta-Synthase), and among its related pathways/superpathways are Glycine, serine and threonine metabolism and Cysteine and methionine metabolism. The drugs Betaine and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and liver.

Disease Ontology : 12 An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.

Genetics Home Reference : 24 Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. There are multiple forms of homocystinuria, which are distinguished by their signs and symptoms and genetic cause. The most common form of homocystinuria is characterized by nearsightedness (myopia), dislocation of the lens at the front of the eye, an increased risk of abnormal blood clotting, and brittle bones that are prone to fracture (osteoporosis) or other skeletal abnormalities. Some affected individuals also have developmental delay and learning problems.

Related Diseases for Homocystinuria

Diseases in the Homocystinuria family:

Homocystinuria Due to Defect in Methylation Cbl E Homocystinuria Due to Defect in Methylation Cbl G

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

(show top 50) (show all 201)
# Related Disease Score Top Affiliating Genes
1 methylmalonic aciduria and homocystinuria, cblc type 34.1 CBS MMACHC MTR
2 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 34.1 MTHFR MTR
3 methylmalonic aciduria and homocystinuria type cble 33.3 MTR MTRR
4 methylmalonic aciduria and homocystinuria type cblg 33.3 MTR MTRR
5 homocysteinemia 30.3 CBS F5 MMACHC MTHFR MTR MTRR
6 methylmalonic aciduria, cblb type 30.0 LMBRD1 MMACHC MMADHC MTHFR MTR MTRR
7 thrombosis 30.0 F5 MTHFR SERPINC1
8 sagittal sinus thrombosis 29.9 F5 SERPINC1
9 lens subluxation 29.6 CBS FBN1 MTHFR
10 neural tube defects, folate-sensitive 29.6 MTHFR MTR MTRR
11 thrombophilia due to thrombin defect 29.5 F5 MTHFR SERPINC1
12 retinal artery occlusion 29.3 F5 MTHFR SERPINC1
13 vitamin b12 deficiency 29.2 MTHFR MTR TCN2
14 thrombophlebitis 29.0 F5 MTHFR SERPINC1
15 portal vein thrombosis 29.0 F5 MTHFR SERPINC1
16 thrombophilia 28.9 CBS F5 MTHFR SERPINC1
17 vascular disease 28.9 CBS F5 MTHFR MTR SERPINC1
18 megaloblastic anemia 28.7 LMBRD1 MMADHC MTHFR MTR MTRR TCN2
19 stroke, ischemic 28.7 F5 FBN1 MTHFR SERPINC1
20 neural tube defects 28.3 CBS MTHFR MTR MTRR TCN2
21 transcobalamin ii deficiency 28.0 LMBRD1 MMADHC MTHFR MTR MTRR TCN2
22 homocystinuria due to cystathionine beta-synthase deficiency 12.4
23 methylmalonic aciduria and homocystinuria, cbld type 12.4
24 methylmalonic acidemia with homocystinuria 12.4
25 homocystinuria-megaloblastic anemia, cblg complementation type 12.3
26 methylmalonic aciduria and homocystinuria, cblf type 12.3
27 homocystinuria-megaloblastic anemia, cble complementation type 12.3
28 homocystinuria due to cbs deficiency 12.3
29 methylmalonic aciduria and homocystinuria, cblj type 12.2
30 methylmalonic acidemia with homocystinuria type cblj 12.1
31 homocystinuria due to defect in methylation cbl e 12.0
32 homocystinuria due to defect in methylation cbl g 12.0
33 homocystinuria caused by cystathionine beta-synthase deficiency 12.0
34 homocystinuria without methylmalonic aciduria 11.9
35 methylmalonic acidemia and homocysteinemia, cblx type 11.6
36 pneumothorax, primary spontaneous 11.1
37 vitamin b12-responsive methylmalonic acidemia 10.9
38 ectopia lentis 2, isolated, autosomal recessive 10.8
39 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 10.8
40 methylmalonic aciduria, cbla type 10.8
41 5-oxoprolinase deficiency 10.8
42 mthfr gene variant 10.8
43 pectus carinatum 10.8
44 organic acidemia 10.3 MMACHC MMADHC
45 nondisjunction 10.3 MTHFR MTRR
46 glycine n-methyltransferase deficiency 10.3 CBS MTHFR
47 isolated ectopia lentis 10.3 CBS FBN1
48 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 10.3
49 inferior vena cava interruption 10.2 F5 MTHFR
50 cerebritis 10.2

Graphical network of the top 20 diseases related to Homocystinuria:



Diseases related to Homocystinuria

Symptoms & Phenotypes for Homocystinuria

UMLS symptoms related to Homocystinuria:


seizures

Drugs & Therapeutics for Homocystinuria

Drugs for Homocystinuria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Betaine Approved, Nutraceutical Phase 3,Phase 2 107-43-7 247
2 Gastrointestinal Agents Phase 3,Phase 2
3 Hypolipidemic Agents Phase 3,Phase 2
4 Antimetabolites Phase 3,Phase 2
5 Lipid Regulating Agents Phase 3,Phase 2
6
Hydroxocobalamin Approved Phase 2 13422-51-0 5460373 44475014 11953898
7
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
8
Taurine Approved, Nutraceutical Phase 1, Phase 2 107-35-7 1123
9
Methylcobalamin Approved, Experimental, Investigational, Nutraceutical Phase 2 13422-55-4
10
Cyanocobalamin Approved, Nutraceutical Phase 2 68-19-9 44176380
11
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
12 Ubiquinone Phase 2
13 Respiratory System Agents Phase 2
14 Micronutrients Phase 2
15 N-monoacetylcystine Phase 2
16 Trace Elements Phase 2
17 Hematinics Phase 2
18 Vitamin B 12 Phase 2
19 Vitamin B Complex Phase 2
20 Vitamins Phase 2
21 Antidotes Phase 2
22 Anti-Infective Agents Phase 2
23 Expectorants Phase 2
24 Protective Agents Phase 2
25 Antioxidants Phase 2
26 Antiviral Agents Phase 2
27 Pharmaceutical Solutions Phase 1, Phase 2
28 Folate Nutraceutical Phase 2
29 Vitamin B12 Nutraceutical Phase 2
30
Cobalamin Nutraceutical Phase 2 13408-78-1 6438156
31 Vitamin B9 Nutraceutical Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Betaine and Peroxisome Biogenesis Disorders Completed NCT01838941 Phase 3 Betaine
2 Homocystinuria: Treatment With N-Acetylcysteine Completed NCT00483314 Phase 2 N-acetylcysteine
3 EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment Completed NCT01793090 Phase 2 Epi-743
4 Betaine METABOLISM OF PATIENTS With Homocystinuria Recruiting NCT02404337 Phase 2 Betaine
5 Oxidative Stress Markers In Inherited Homocystinuria And The Impact Of Taurine Active, not recruiting NCT01192828 Phase 1, Phase 2 taurine
6 OT-58 as an Enzyme Replacement Therapy for Patients With Cystathionine Beta-Synthase Deficient Homocystinuria (CBSDH) Not yet recruiting NCT03406611 Phase 1, Phase 2 OT-58;Placebos
7 Study of Homocysteine Metabolism in Homocystinuria Completed NCT00004356
8 Normal Values of Oxidative Stress, Taurine, and Related Markers Completed NCT02649777
9 Natural History Study of Cystathionine Beta-synthase Deficiency Homocystinuria (CBSDH) Recruiting NCT02998710

Search NIH Clinical Center for Homocystinuria

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: homocystinuria

Genetic Tests for Homocystinuria

Genetic tests related to Homocystinuria:

# Genetic test Affiliating Genes
1 Homocystinuria 28

Anatomical Context for Homocystinuria

MalaCards organs/tissues related to Homocystinuria:

38
Eye, Bone, Liver, Testes, Skin, Brain, Endothelial

Publications for Homocystinuria

Articles related to Homocystinuria:

(show top 50) (show all 579)
# Title Authors Year
1
Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization. ( 29326875 )
2018
2
Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome. ( 29294253 )
2018
3
CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients. ( 29352562 )
2018
4
Is homocystinuria a real challenge for anesthetist? Are we making a difference? ( 29416496 )
2018
5
Isolated aortic root dilation in homocystinuria. ( 28980096 )
2018
6
Taurine treatment prevents derangement of the hepatic I^-glutamyl cycle and methylglyoxal metabolism in a mouse model of classical homocystinuria: regulatory crosstalk between thiol and sulfinic acid metabolism. ( 29101223 )
2018
7
Enzyme replacement therapy prevents loss of bone and fat mass in murine homocystinuria. ( 29044829 )
2018
8
Late diagnosis of homocystinuria in an adult after extensive cerebral venous thrombosis. ( 29175875 )
2018
9
Arterial Stroke as an Isolated Manifestation of Homocystinuria in an Infant. ( 28904589 )
2017
10
Cerebral venous thrombosis as the first presentation of classical homocystinuria in an adult patient. ( 28137899 )
2017
11
Cystathionine beta-synthase deficiency alters hepatic phospholipid and choline metabolism: Post-translational repression of phosphatidylethanolamine N-methyltransferase is a consequence rather than a cause of liver injury in homocystinuria. ( 28291718 )
2017
12
Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management. ( 28779878 )
2017
13
Homocystinuria with Stroke and Positive Familial History. ( 29279830 )
2017
14
Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake. ( 29270317 )
2017
15
Spinal cord injury following a mild trauma in homocystinuria-related bone frailty: neurorehabilitation and education on bone health management. ( 28777128 )
2017
16
Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria. ( 29398487 )
2017
17
The c.797 G>A (p.R266K) cystathionine I^-synthase mutation causes homocystinuria by affecting protein stability. ( 28488385 )
2017
18
Homocystinuria with Cerebral Venous Sinus Thrombosis: Excellent Recovery with Intravenous Recombinant Tissue Plasminogen Activator. ( 28883877 )
2017
19
Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria. ( 28821635 )
2017
20
Malar rash in classical homocystinuria. ( 28473367 )
2017
21
Engineering and Characterization of an Enzyme Replacement Therapy for Classical Homocystinuria. ( 28431470 )
2017
22
Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria. ( 29119254 )
2017
23
Leptin concentrations and SCD-1 indices in classical homocystinuria: Evidence for the role of sulfur amino acids in the regulation of lipid metabolism. ( 28801090 )
2017
24
Oxidative Stress in Homocystinuria Due to Cystathionine A9-Synthase Deficiency: Findings in Patients and in Animal Models. ( 28258516 )
2017
25
Cerebral venous sinus thrombosis in homocystinuria: Dietary intervention in conjunction with anticoagulation. ( 28835823 )
2017
26
Enzyme replacement with PEGylated cystathionine I^-synthase ameliorates homocystinuria in murine model. ( 27183385 )
2016
27
Endoplasmic Reticulum Stress and Autophagy in Homocystinuria Patients with Remethylation Defects. ( 26959487 )
2016
28
Homocystinuria (HC) and Neurofibromatosis Type-1 (NF-1): An Unusual Presentation in a Child. ( 28666510 )
2016
29
Peripheral nerve involvement in classic homocystinuria: an unusual association. ( 27681349 )
2016
30
Vision of correction for classic homocystinuria. ( 27183384 )
2016
31
A Case of Homocystinuria Misdiagnosed as Moyamoya Disease: A Case Report. ( 27330833 )
2016
32
Kinetic stability of cystathionine beta-synthase can be modulated by structural analogs of S-adenosylmethionine: Potential approach to pharmacological chaperone therapy for homocystinuria. ( 26805382 )
2016
33
Targeting Cystathionine Beta-Synthase Misfolding in Homocystinuria by Small Ligands: State of the Art and Future Directions. ( 26931358 )
2016
34
Low bone mineral density is a common finding in patients with homocystinuria. ( 26689745 )
2016
35
Homocystinuria: Therapeutic approach. ( 27059523 )
2016
36
Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy. ( 27325427 )
2016
37
Novel cystathionine I^-synthase gene mutations in a Filipino patient with classic homocystinuria. ( 25939784 )
2015
38
Homocystinuria: Diagnosis and Neuroimaging Findings of Iranian Pediatric patients. ( 25767545 )
2015
39
Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family. ( 26667307 )
2015
40
Lipid, Oxidative and Inflammatory Profile and Alterations in the Enzymes Paraoxonase and Butyrylcholinesterase in Plasma of Patients with Homocystinuria Due CBS Deficiency: The Vitamin B12 and Folic Acid Importance. ( 25805165 )
2015
41
Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula. ( 25638462 )
2015
42
Atypical presentation of ectopia lentis in homocystinuria. ( 25662830 )
2015
43
Acute psychosis in an adolescent with undiagnosed homocystinuria. ( 25939413 )
2015
44
Predictors of survival in children with methymalonic acidemia with homocystinuria in Beijing, China: a prospective cohort study. ( 25691178 )
2015
45
Bilateral lens dislocation in a patient with homocystinuria. ( 25763556 )
2015
46
Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type(.). ( 26464686 )
2015
47
The eye as a window to a rare disease: ectopia lentis and homocystinuria, a Pakistani perspective. ( 25982157 )
2015
48
Neurodevelopmental and Cognitive Outcomes of Classical Homocystinuria: Experience from Qatar. ( 25712383 )
2015
49
Whole Exome Sequencing Identifies an Adult-onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-syndromic Bull's Eye Maculopathy. ( 25687216 )
2015
50
Homocystinuria: A Rare Disorder Presenting as Cerebral Sinovenous Thrombosis. ( 26221164 )
2015

Variations for Homocystinuria

ClinVar genetic disease variations for Homocystinuria:

6
# 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.833T> C (p.Ile278Thr) single nucleotide variant Pathogenic rs5742905 GRCh37 Chromosome 21, 44483184: 44483184

Expression for Homocystinuria

Search GEO for disease gene expression data for Homocystinuria.

Pathways for Homocystinuria

Pathways related to Homocystinuria according to KEGG:

36
# Name Kegg Source Accession
1 Glycine, serine and threonine metabolism hsa00260
2 Cysteine and methionine metabolism hsa00270
3 Selenocompound metabolism hsa00450
4 One carbon pool by folate hsa00670

Pathways related to Homocystinuria according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 ABCD4 CBS LMBRD1 MMACHC MMADHC MTHFR
2
Show member pathways
12.17 ABCD4 LMBRD1 MMACHC MMADHC MTHFR MTR
3
Show member pathways
12.05 CBS MTHFR MTR MTRR TCN2
4
Show member pathways
11.99 CBS MTHFR MTR
5
Show member pathways
11.8 CBS MTHFR MTR MTRR TCN2
6
Show member pathways
11.74 CBS MTR MTRR
7
Show member pathways
11.54 MMACHC MMADHC MTR MTRR TCN2
8 10.92 LMBRD1 MMACHC TCN2
9 10.51 ABCD4 LMBRD1 MMACHC MMADHC MTR MTRR
10
Show member pathways
10.39 CBS MTHFR
11
Show member pathways
10.18 MTR MTRR

GO Terms for Homocystinuria

Biological processes related to Homocystinuria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.63 F5 FBN1 SERPINC1
2 blood circulation GO:0008015 9.48 F5 MTHFR
3 folic acid metabolic process GO:0046655 9.43 MTHFR MTRR
4 methionine biosynthetic process GO:0009086 9.4 MTR MTRR
5 sulfur amino acid metabolic process GO:0000096 9.37 MTR MTRR
6 cellular amino acid biosynthetic process GO:0008652 9.33 CBS MTR MTRR
7 methionine metabolic process GO:0006555 9.32 MTHFR MTRR
8 homocysteine metabolic process GO:0050667 9.26 CBS MTHFR
9 cobalamin metabolic process GO:0009235 9.17 ABCD4 LMBRD1 MMACHC MMADHC MTR MTRR
10 homocysteine catabolic process GO:0043418 8.96 CBS MTRR

Molecular functions related to Homocystinuria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 NADP binding GO:0050661 9.26 MTHFR MTRR
2 FAD binding GO:0071949 9.16 MMACHC MTRR
3 modified amino acid binding GO:0072341 8.96 CBS MTHFR
4 cobalamin binding GO:0031419 8.92 LMBRD1 MMACHC MTR TCN2

Sources for Homocystinuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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