MCID: HMC002
MIFTS: 50

Homocystinuria malady

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Homocystinuria

Aliases & Descriptions for Homocystinuria:

Name: Homocystinuria 12 71 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:



External Ids:

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.

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 : 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.

Wikipedia : 71 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 190)
id Related Disease Score Top Affiliating Genes
1 methylmalonic aciduria and homocystinuria, cblc type 33.7 CBS MMACHC MTR
2 homocystinuria due to mthfr deficiency 33.5 MTHFR MTR
3 aminoaciduria 29.3 F5 MTHFR
4 methylmalonic acidemia with homocystinuria 12.2
5 methylmalonic aciduria and homocystinuria, cbld type 12.2
6 methylmalonic aciduria and homocystinuria, cblf type 12.2
7 homocystinuria, b6-responsive and nonresponsive types 12.1
8 homocystinuria-megaloblastic anemia, cbl e type 12.1
9 homocystinuria-megaloblastic anemia, cblg complementation type 12.1
10 methylmalonic acidemia with homocystinuria type cbld 12.1
11 methylmalonic aciduria and homocystinuria, cblj type 12.1
12 homocystinuria due to cbs deficiency 12.0
13 homocystinuria caused by cystathionine beta-synthase deficiency 11.9
14 methylmalonic acidemia with homocystinuria type cblj 11.8
15 methylmalonic aciduria and homocystinuria type cble 11.7
16 methylmalonic aciduria and homocystinuria type cblg 11.7
17 homocystinuria due to defect in methylation cbl e 11.7
18 homocystinuria due to defect in methylation cbl g 11.7
19 hypotonia-homocystinuria syndrome 11.7
20 homocystinuria without methylmalonic aciduria 11.7
21 mental retardation, x-linked 3 11.5
22 mthfr deficiency 11.2
23 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 10.8
24 ectopia lentis, isolated, autosomal recessive 10.7
25 methylmalonic aciduria, vitamin b12-responsive 10.7
26 methylmalonic aciduria, mut(0) type 10.7
27 methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type 10.7
28 pneumothorax, primary spontaneous 10.7
29 mthfr gene mutation 10.7
30 pectus carinatum 10.7
31 cblf 10.7
32 microcephaly chorioretinopathy recessive form 10.3 MMACHC MMADHC
33 x-linked disease 10.3 MTR MTRR
34 autosomal dominant disease 10.3 MTR MTRR
35 skeletal muscle regeneration 10.2 MTR MTRR
36 johnson hall krous syndrome 10.2 CBS FBN1
37 spinocerebellar ataxia, autosomal recessive 6 10.2 CBS MAT1A
38 myh7-related myosin storage myopathy 10.2 CBS MTHFR MTR
39 thrombosis 10.1
40 deafness, autosomal recessive 45 10.1 MTHFR MTR MTRR
41 warburg micro syndrome 3 10.1 MTHFR MTR MTRR
42 hereditary sensory neuropathy 10.1 CBS MAT1A
43 craniofaciofrontodigital syndrome 10.1 MTHFR MTR MTRR
44 chronic ethmoiditis 10.1 MTHFR MTR MTRR
45 mixed epithelial tumor of ovary 10.1 MTHFR SERPINC1
46 anal spasm 10.1 CBS FBN1 MTHFR
47 congenital intrinsic factor deficiency 10.1 MTHFR MTR TCN2
48 nystagmus 2, congenital, autosomal dominant 10.1 CBS MAT1A MTHFR
49 cdkn2a-related cutaneous malignant melanoma 10.1 LMBRD1 MTR TCN2
50 spinal cord lipoma 10.1 MTHFR SERPINC1

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 Antidotes Phase 2
11 Anti-Infective Agents Phase 2
12 Antioxidants Phase 2
13 Antiviral Agents Phase 2
14 Expectorants Phase 2
15 N-monoacetylcystine Phase 2
16 Protective Agents Phase 2
17 Respiratory System Agents Phase 2
18 Hematinics Phase 2
19 Micronutrients Phase 2
20 Trace Elements Phase 2
21 Ubiquinone Phase 2
22 Vitamin B 12 Phase 2
23 Vitamin B Complex Phase 2
24 Vitamins Phase 2
25
Cobalamin Nutraceutical Phase 2 13408-78-1 6438156
26 Folate Nutraceutical Phase 2
27
Methylcobalamin Experimental, Nutraceutical Phase 2 13422-55-4
28 Vitamin B12 Nutraceutical Phase 2
29 Vitamin B9 Nutraceutical Phase 2
30
Taurine Experimental, Nutraceutical Phase 1, Phase 2 107-35-7 1123

Interventional clinical trials:


id Name Status NCT ID Phase
1 Betaine and Peroxisome Biogenesis Disorders Completed NCT01838941 Phase 3
2 Homocystinuria: Treatment With N-Acetylcysteine Completed NCT00483314 Phase 2
3 EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment Completed NCT01793090 Phase 2
4 Betaine METABOLISM OF PATIENTS With Homocystinuria Recruiting NCT02404337 Phase 2
5 Oxidative Stress Markers In Inherited Homocystinuria And The Impact Of Taurine Active, not recruiting NCT01192828 Phase 1, Phase 2
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, Endothelial, Brain

Publications for Homocystinuria

Articles related to Homocystinuria:

(show top 50) (show all 553)
id Title Authors Year
1
Targeting Cystathionine Beta-Synthase Misfolding in Homocystinuria by Small Ligands: State of the Art and Future Directions. ( 26931358 )
2016
2
Peripheral nerve involvement in classic homocystinuria: an unusual association. ( 27681349 )
2016
3
Endoplasmic Reticulum Stress and Autophagy in Homocystinuria Patients with Remethylation Defects. ( 26959487 )
2016
4
Homocystinuria: Therapeutic approach. ( 27059523 )
2016
5
Enzyme replacement with PEGylated cystathionine I^-synthase ameliorates homocystinuria in murine model. ( 27183385 )
2016
6
A Case of Homocystinuria Misdiagnosed as Moyamoya Disease: A Case Report. ( 27330833 )
2016
7
Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy. ( 27325427 )
2016
8
Low bone mineral density is a common finding in patients with homocystinuria. ( 26689745 )
2016
9
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
10
Vision of correction for classic homocystinuria. ( 27183384 )
2016
11
Acute psychosis in an adolescent with undiagnosed homocystinuria. ( 25939413 )
2015
12
The eye as a window to a rare disease: ectopia lentis and homocystinuria, a Pakistani perspective. ( 25982157 )
2015
13
Newborn screening for homocystinuria. ( 26423208 )
2015
14
2D DIGE proteomic analysis highlights delayed postnatal repression of I+-fetoprotein expression in homocystinuria model mice. ( 26199862 )
2015
15
Homocystinuria: Diagnosis and Neuroimaging Findings of Iranian Pediatric patients. ( 25767545 )
2015
16
Cerebral sinovenous thrombosis in a child with homocystinuria. ( 26265866 )
2015
17
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
18
Predictors of Survival in Children with Methymalonic Acidemia with Homocystinuria. ( 26519727 )
2015
19
Novel cystathionine I^-synthase gene mutations in a Filipino patient with classic homocystinuria. ( 25939784 )
2015
20
Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula. ( 25638462 )
2015
21
Predictors of survival in children with methymalonic acidemia with homocystinuria in Beijing, China: a prospective cohort study. ( 25691178 )
2015
22
Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family. ( 26667307 )
2015
23
Homocystinuria: A Rare Disorder Presenting as Cerebral Sinovenous Thrombosis. ( 26221164 )
2015
24
Atypical presentation of ectopia lentis in homocystinuria. ( 25662830 )
2015
25
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
26
Neurodevelopmental and Cognitive Outcomes of Classical Homocystinuria: Experience from Qatar. ( 25712383 )
2015
27
Bilateral lens dislocation in a patient with homocystinuria. ( 25763556 )
2015
28
Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type(.). ( 26464686 )
2015
29
Varied phenotype of homocystinuria: possible diagnostic error. ( 25116789 )
2014
30
Neutral aminoaciduria in cystathionine I^-synthase-deficient mice; an animal model of homocystinuria. ( 24761004 )
2014
31
First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type. ( 24974159 )
2014
32
Enzymatic diagnosis of homocystinuria by determination of cystathionine-A9-synthase activity in plasma using LC-MS/MS. ( 25218699 )
2014
33
Simultaneous determination of cystathionine, total homocysteine, and methionine in dried blood spots by liquid chromatography/tandem mass spectrometry and its utility for the management of patients with homocystinuria. ( 25086281 )
2014
34
Inaugural Cerebral Sinovenous Thrombosis Revealing Homocystinuria in a 2-Year-Old Boy. ( 24598125 )
2014
35
A case of homocystinuria due to CBS gene mutations revealed by cerebral venous thrombosis. ( 24169224 )
2014
36
Authors' reply: Comment to varied phenotype of Homocystinuria: possible diagnostic error. ( 25360472 )
2014
37
Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism. ( 25155779 )
2014
38
Methylmalonic acidemia with homocystinuria. A very rare cause of kidney failure in the neonatal period. ( 25036075 )
2014
39
Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate. ( 25331909 )
2014
40
Clinical analysis of late-onset methylmalonic acidaemia and homocystinuria, cblC type with a neuropsychiatric presentation. ( 25091368 )
2014
41
Long-term Visual Outcome of Methylmalonic Aciduria and Homocystinuria, Cobalamin C Type. ( 24126030 )
2014
42
Varied phenotypic presentations of homocystinuria in two siblings. ( 24492508 )
2014
43
FEVR-Like Presentation of Homocystinuria. ( 25478266 )
2014
44
Heterozygous carriers of classical homocystinuria tend to have higher fasting serum homocysteine concentrations than non-carriers in the presence of folate deficiency. ( 25516282 )
2014
45
Altered hepatic sulfur metabolism in cystathionine I^-synthase-deficient homocystinuria: regulatory role of taurine on competing cysteine oxidation pathways. ( 24891521 )
2014
46
White matter changes in an untreated, newly diagnosed case of classical homocystinuria. ( 23155204 )
2014
47
Chronic thromboembolic pulmonary hypertension complicated with homocystinuria. ( 25400183 )
2014
48
Body composition in patients with classical homocystinuria: body mass relates to homocysteine and choline metabolism. ( 24815046 )
2014
49
cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period. ( 23430521 )
2013
50
Homocystinuria with lower gastrointestinal bleeding: first case report. ( 23258193 )
2013

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:

(show all 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.78 CBS LMBRD1 MAT1A MMACHC MMADHC MTHFR
2
Show member pathways
12.31 LMBRD1 MMACHC MMADHC MTHFR MTR MTRR
3
Show member pathways
12.07 CBS MAT1A MTHFR MTR MTRR TCN2
4
Show member pathways
12.05 CBS MAT1A MTHFR MTR
5
Show member pathways
11.79 CBS MAT1A MTR MTRR
6
Show member pathways
11.7 MMACHC MMADHC MTR MTRR TCN2
7
Show member pathways
11.58 CBS MAT1A MTHFR MTR MTRR TCN2
8
Show member pathways
10.93 CBS MAT1A
9 10.92 LMBRD1 MMACHC TCN2
10 10.44 LMBRD1 MMACHC MMADHC MTR MTRR TCN2
11
Show member pathways
10.43 CBS MTHFR
12
Show member pathways
10.23 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 9.67 F5 FBN1 SERPINC1
2 methylation GO:0032259 9.65 MAT1A MTR MTRR
3 folic acid metabolic process GO:0046655 9.46 MTHFR MTRR
4 methionine biosynthetic process GO:0009086 9.43 MTR MTRR
5 cellular amino acid biosynthetic process GO:0008652 9.43 CBS MTR MTRR
6 cobalamin transport GO:0015889 9.4 LMBRD1 TCN2
7 methionine metabolic process GO:0006555 9.37 MTHFR MTRR
8 homocysteine metabolic process GO:0050667 9.32 CBS MTHFR
9 homocysteine catabolic process GO:0043418 9.16 CBS MTRR
10 sulfur amino acid metabolic process GO:0000096 9.13 MAT1A MTR MTRR
11 cobalamin metabolic process GO:0009235 9.1 LMBRD1 MMACHC MMADHC MTR MTRR TCN2

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
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....