Aliases & Classifications for Homocystinuria

MalaCards integrated aliases for Homocystinuria:

Name: Homocystinuria 12 72 50 25 29 52 42 14 69
Cystathionine Beta Synthase Deficiency 12 25
Homocysteinemia 25 69
Cystathionine Beta-Synthase Deficiency Disease 69
Cystathionine Synthase Deficiency 12
Cbs Deficiency 12

Classifications:



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Disease Ontology 12 DOID:9263
ICD10 33 E72.11
MeSH 42 D006712
NCIt 47 C84765
SNOMED-CT 64 11282001 190709008
UMLS 69 C0019880

Summaries for Homocystinuria

NIH Rare Diseases : 50 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 mthfr deficiency, and has symptoms including seizures An important gene associated with Homocystinuria is CBS (Cystathionine-Beta-Synthase), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Betaine and Antimetabolites have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and liver.

Genetics Home Reference : 25 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.

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.

Wikipedia : 72 Classical homocystinuria, also known as cystathionine beta synthase deficiency or CBS deficiency, is an... more...

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 198)
id Related Disease Score Top Affiliating Genes
1 methylmalonic aciduria and homocystinuria, cblc type 34.1 CBS MMACHC MTR
2 homocystinuria due to mthfr deficiency 33.4 CBS MTHFR MTR
3 methylmalonic aciduria and homocystinuria type cblg 32.5 MTHFR MTR TCN2
4 central retinal artery occlusion 29.2 MTHFR SERPINC1
5 neural tube defects 28.4 CBS MTHFR MTR MTRR TCN2
6 methylmalonic acidemia with homocystinuria 12.2
7 methylmalonic aciduria and homocystinuria, cbld type 12.2
8 methylmalonic aciduria and homocystinuria, cblf type 12.2
9 homocystinuria, b6-responsive and nonresponsive types 12.1
10 homocystinuria-megaloblastic anemia, cbl e type 12.1
11 homocystinuria-megaloblastic anemia, cblg complementation type 12.1
12 methylmalonic acidemia with homocystinuria type cbld 12.1
13 methylmalonic aciduria and homocystinuria, cblj type 12.1
14 homocystinuria due to cbs deficiency 12.0
15 methylmalonic acidemia with homocystinuria type cblj 12.0
16 homocystinuria caused by cystathionine beta-synthase deficiency 11.9
17 homocystinuria due to defect in methylation cbl e 11.9
18 homocystinuria due to defect in methylation cbl g 11.9
19 methylmalonic aciduria and homocystinuria type cble 11.7
20 hypotonia-homocystinuria syndrome 11.7
21 homocystinuria without methylmalonic aciduria 11.7
22 mental retardation, x-linked 3 11.5
23 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 10.8
24 vitamin b12-responsive methylmalonic acidemia 10.8
25 ectopia lentis, isolated, autosomal recessive 10.7
26 methylmalonic aciduria, vitamin b12-responsive 10.7
27 methylmalonic aciduria, mut(0) type 10.7
28 5-oxoprolinase deficiency 10.7
29 methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type 10.7
30 pneumothorax, primary spontaneous 10.7
31 mthfr gene mutation 10.7
32 pectus carinatum 10.7
33 congenital intrinsic factor deficiency 10.6 MTR MTRR
34 x-linked disease 10.6 MTR MTRR
35 factor v leiden thrombophilia 10.6 MTR MTRR
36 body dysmorphic disorder 10.5 MMACHC MMADHC
37 candidiasis, familial, 6, autosomal dominant 10.4 CBS MTHFR
38 jaffer beighton syndrome 10.3 CBS FBN1
39 thrombocytopenia with or without dyserythropoietic anemia 10.3 CBS FBN1
40 multicentric osteolysis nephropathy 10.3 F5 MTHFR
41 coronary sinus stenosis 10.3 F5 MTHFR
42 amelogenesis imperfecta hypomaturation type 10.2 F5 MTHFR
43 lockwood feingold syndrome 10.2 F5 MTHFR
44 pregnancy loss, recurrent 1 10.2 F5 MTHFR
45 cavernous lymphangioma 10.2 F5 MTHFR
46 cd19-related common variable immune deficiency 10.2 LMBRD1 MTR TCN2
47 thrombosis 10.2
48 primary pigmented nodular adrenocortical disease 10.2 F5 MTHFR
49 neural tube defects, folate-sensitive 10.2 MTHFR MTR MTRR
50 embryonal rhabdomyosarcoma 10.1 MTR TCN2

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

Interventional clinical trials:


id 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 Study of Homocysteine Metabolism in Homocystinuria Completed NCT00004356
7 Natural History Study of Cystathionine Beta-synthase Deficiency Homocystinuria (CBSDH) Recruiting NCT02998710
8 Normal Values of Oxidative Stress, Taurine, and Related Markers Active, not recruiting NCT02649777

Search NIH Clinical Center for Homocystinuria

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: homocystinuria

Genetic Tests for Homocystinuria

Genetic tests related to Homocystinuria:

id Genetic test Affiliating Genes
1 Homocystinuria 29

Anatomical Context for Homocystinuria

MalaCards organs/tissues related to Homocystinuria:

39
Eye, Bone, Liver, Testes, Skin, Brain, Endothelial

Publications for Homocystinuria

Articles related to Homocystinuria:

(show top 50) (show all 567)
id Title Authors Year
1
Oxidative Stress in Homocystinuria Due to Cystathionine A9-Synthase Deficiency: Findings in Patients and in Animal Models. ( 28258516 )
2017
2
Cerebral venous sinus thrombosis in homocystinuria: Dietary intervention in conjunction with anticoagulation. ( 28835823 )
2017
3
Spinal cord injury following a mild trauma in homocystinuria-related bone frailty: neurorehabilitation and education on bone health management. ( 28777128 )
2017
4
Cerebral venous thrombosis as the first presentation of classical homocystinuria in an adult patient. ( 28137899 )
2017
5
Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria. ( 28821635 )
2017
6
Engineering and Characterization of an Enzyme Replacement Therapy for Classical Homocystinuria. ( 28431470 )
2017
7
Malar rash in classical homocystinuria. ( 28473367 )
2017
8
Homocystinuria with Cerebral Venous Sinus Thrombosis: Excellent Recovery with Intravenous Recombinant Tissue Plasminogen Activator. ( 28883877 )
2017
9
The c.797 G>A (p.R266K) cystathionine I^-synthase mutation causes homocystinuria by affecting protein stability. ( 28488385 )
2017
10
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
11
Arterial Stroke as an Isolated Manifestation of Homocystinuria in an Infant. ( 28904589 )
2017
12
Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management. ( 28779878 )
2017
13
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
14
Targeting Cystathionine Beta-Synthase Misfolding in Homocystinuria by Small Ligands: State of the Art and Future Directions. ( 26931358 )
2016
15
Low bone mineral density is a common finding in patients with homocystinuria. ( 26689745 )
2016
16
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
17
Peripheral nerve involvement in classic homocystinuria: an unusual association. ( 27681349 )
2016
18
Enzyme replacement with PEGylated cystathionine I^-synthase ameliorates homocystinuria in murine model. ( 27183385 )
2016
19
Vision of correction for classic homocystinuria. ( 27183384 )
2016
20
Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy. ( 27325427 )
2016
21
Homocystinuria (HC) and Neurofibromatosis Type-1 (NF-1): An Unusual Presentation in a Child. ( 28666510 )
2016
22
Homocystinuria: Therapeutic approach. ( 27059523 )
2016
23
A Case of Homocystinuria Misdiagnosed as Moyamoya Disease: A Case Report. ( 27330833 )
2016
24
Endoplasmic Reticulum Stress and Autophagy in Homocystinuria Patients with Remethylation Defects. ( 26959487 )
2016
25
The eye as a window to a rare disease: ectopia lentis and homocystinuria, a Pakistani perspective. ( 25982157 )
2015
26
Newborn screening for homocystinuria. ( 26423208 )
2015
27
Acute psychosis in an adolescent with undiagnosed homocystinuria. ( 25939413 )
2015
28
2D DIGE proteomic analysis highlights delayed postnatal repression of I+-fetoprotein expression in homocystinuria model mice. ( 26199862 )
2015
29
Homocystinuria: A Rare Disorder Presenting as Cerebral Sinovenous Thrombosis. ( 26221164 )
2015
30
Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula. ( 25638462 )
2015
31
Bilateral lens dislocation in a patient with homocystinuria. ( 25763556 )
2015
32
Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family. ( 26667307 )
2015
33
Novel cystathionine I^-synthase gene mutations in a Filipino patient with classic homocystinuria. ( 25939784 )
2015
34
Predictors of Survival in Children with Methymalonic Acidemia with Homocystinuria. ( 26519727 )
2015
35
Neurodevelopmental and Cognitive Outcomes of Classical Homocystinuria: Experience from Qatar. ( 25712383 )
2015
36
Atypical presentation of ectopia lentis in homocystinuria. ( 25662830 )
2015
37
Predictors of survival in children with methymalonic acidemia with homocystinuria in Beijing, China: a prospective cohort study. ( 25691178 )
2015
38
Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type(.). ( 26464686 )
2015
39
Homocystinuria: Diagnosis and Neuroimaging Findings of Iranian Pediatric patients. ( 25767545 )
2015
40
Cerebral sinovenous thrombosis in a child with homocystinuria. ( 26265866 )
2015
41
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
42
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
43
Altered hepatic sulfur metabolism in cystathionine I^-synthase-deficient homocystinuria: regulatory role of taurine on competing cysteine oxidation pathways. ( 24891521 )
2014
44
Long-term Visual Outcome of Methylmalonic Aciduria and Homocystinuria, Cobalamin C Type. ( 24126030 )
2014
45
Neutral aminoaciduria in cystathionine I^-synthase-deficient mice; an animal model of homocystinuria. ( 24761004 )
2014
46
Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate. ( 25331909 )
2014
47
First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type. ( 24974159 )
2014
48
Authors' reply: Comment to varied phenotype of Homocystinuria: possible diagnostic error. ( 25360472 )
2014
49
Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in the presence of folate deficiency. ( 25516282 )
2014
50
Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism. ( 25155779 )
2014

Variations for Homocystinuria

ClinVar genetic disease variations for Homocystinuria:

6
id 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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.72 ABCD4 CBS LMBRD1 MMACHC MMADHC MTHFR
2
Show member pathways
12.17 ABCD4 LMBRD1 MMACHC MMADHC MTHFR MTR
3
Show member pathways
11.97 CBS MTHFR MTR
4
Show member pathways
11.8 CBS MTHFR MTR MTRR TCN2
5
Show member pathways
11.72 CBS MTR MTRR
6
Show member pathways
11.54 MMACHC MMADHC MTR MTRR TCN2
7 10.88 LMBRD1 MMACHC TCN2
8 10.51 ABCD4 LMBRD1 MMACHC MMADHC MTR MTRR
9
Show member pathways
10.36 CBS MTHFR
10
Show member pathways
10.15 MTR MTRR

GO Terms for Homocystinuria

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.65 F5 FBN1 SERPINC1
2 blood circulation GO:0008015 9.49 F5 MTHFR
3 folic acid metabolic process GO:0046655 9.46 MTHFR MTRR
4 methionine biosynthetic process GO:0009086 9.43 MTR MTRR
5 cobalamin transport GO:0015889 9.4 LMBRD1 TCN2
6 sulfur amino acid metabolic process GO:0000096 9.37 MTR MTRR
7 cellular amino acid biosynthetic process GO:0008652 9.33 CBS MTR MTRR
8 methionine metabolic process GO:0006555 9.32 MTHFR MTRR
9 homocysteine metabolic process GO:0050667 9.26 CBS MTHFR
10 cobalamin metabolic process GO:0009235 9.17 ABCD4 LMBRD1 MMACHC MMADHC MTR MTRR
11 homocysteine catabolic process GO:0043418 8.96 CBS MTRR

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

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
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54 OMIM
55 OMIM via Orphanet
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60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
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70 UMLS via Orphanet
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