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MCID: HMC002
MIFTS: 52

Homocystinuria

Categories: Blood diseases, Bone diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Homocystinuria

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MalaCards integrated aliases for Homocystinuria:

Name: Homocystinuria 12 76 53 25 37 29 55 6 44 15 73
Cystathionine Beta Synthase Deficiency 12 25
Homocysteinemia 25 73
Cystathionine Beta-Synthase Deficiency Disease 73
Cystathionine Synthase Deficiency 12
Cystathionine Beta-Synthase 13
Cbs Deficiency 12

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases
Anatomical: Bone diseases Blood diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:9263
ICD10 33 E72.11
MeSH 44 D006712
NCIt 50 C84765
SNOMED-CT 68 11282001
KEGG 37 H00183
Sources

Summaries for Homocystinuria

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NIH Rare Diseases : 53 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.

MalaCards based summary : Homocystinuria, also known as cystathionine beta synthase deficiency, is related to methylmalonic acidemia with homocystinuria and methylmalonic aciduria and homocystinuria, cblc type, 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 Lipid Regulating 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 : 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 : 76 Classical homocystinuria, also known as cystathionine beta synthase deficiency or CBS deficiency, is an... more...

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Related Diseases for Homocystinuria

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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 233)
# Related Disease Score Top Affiliating Genes
1 methylmalonic acidemia with homocystinuria 34.2 MMACHC MMADHC
2 methylmalonic aciduria and homocystinuria, cblc type 34.2 CBS MMACHC MTR
3 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 34.1 MTHFR MTR
4 methylmalonic aciduria and homocystinuria type cble 33.3 MTR MTRR
5 methylmalonic aciduria and homocystinuria type cblg 33.3 MTR MTRR
6 glycine n-methyltransferase deficiency 32.2 CBS MAT1A MTHFR
7 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 31.5 LMBRD1 MMACHC MMADHC MTHFR MTR TCN2
8 homocysteinemia 31.4 CBS F5 MMACHC MTHFR MTR MTRR
9 isolated ectopia lentis 30.5 CBS FBN1
10 thrombosis 30.4 F5 MTHFR SERPINC1
11 hypermethioninemia 30.2 CBS MAT1A
12 myelomeningocele 30.1 CBS MTHFR
13 cystathioninuria 30.0 CBS MTHFR
14 sagittal sinus thrombosis 30.0 F5 SERPINC1
15 lens subluxation 30.0 CBS FBN1 MTHFR
16 vitamin b12 deficiency 30.0 MTHFR MTR TCN2
17 livedoid vasculitis 29.9 MTHFR SERPINC1
18 methionine adenosyltransferase i/iii deficiency 29.9 CBS MAT1A
19 down syndrome 29.9 CBS MTHFR MTRR
20 megaloblastic anemia 29.8 LMBRD1 MMADHC MTHFR MTR MTRR TCN2
21 neural tube defects, folate-sensitive 29.8 MTHFR MTR MTRR
22 thrombophilia due to thrombin defect 29.7 CBS F5 MTHFR SERPINC1
23 cerebrovascular disease 29.7 CBS F5 MTHFR MTR
24 heart disease 29.6 CBS MTHFR MTR SERPINC1
25 thrombophilia 29.6 F5 MTHFR SERPINC1
26 retinal artery occlusion 29.6 F5 MTHFR SERPINC1
27 myocardial infarction 29.4 CBS F5 MTHFR SERPINC1
28 thrombophlebitis 29.4 F5 MTHFR SERPINC1
29 intracranial thrombosis 29.4 F5 MTHFR SERPINC1
30 portal vein thrombosis 29.4 F5 MTHFR SERPINC1
31 vascular disease 29.3 CBS F5 MTHFR MTR MTRR SERPINC1
32 stroke, ischemic 29.3 F5 FBN1 MTHFR SERPINC1
33 neural tube defects 29.3 CBS MTHFR MTR MTRR TCN2
34 transcobalamin ii deficiency 29.1 LMBRD1 MMADHC MTHFR MTR MTRR TCN2
35 homocystinuria due to cystathionine beta-synthase deficiency 12.6
36 methylmalonic aciduria and homocystinuria, cbld type 12.6
37 homocystinuria-megaloblastic anemia, cblg complementation type 12.5
38 homocystinuria due to cbs deficiency 12.5
39 methylmalonic aciduria and homocystinuria, cblf type 12.5
40 homocystinuria-megaloblastic anemia, cble complementation type 12.5
41 methylmalonic aciduria and homocystinuria, cblj type 12.4
42 homocystinuria caused by cystathionine beta-synthase deficiency 12.1
43 methylmalonic acidemia with homocystinuria type cblj 12.1
44 homocystinuria without methylmalonic aciduria 12.1
45 homocystinuria due to defect in methylation cbl e 11.9
46 homocystinuria due to defect in methylation cbl g 11.9
47 methylmalonic acidemia and homocysteinemia, cblx type 11.8
48 pneumothorax, primary spontaneous 11.3
49 methylmalonic aciduria, cblb type 11.3
50 vitamin b12-responsive methylmalonic acidemia 11.1

Graphical network of the top 20 diseases related to Homocystinuria:



Diseases related to Homocystinuria
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Symptoms & Phenotypes for Homocystinuria

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UMLS symptoms related to Homocystinuria:


seizures
Sources

Drugs & Therapeutics for Homocystinuria

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

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Betaine Approved, Nutraceutical Phase 3,Phase 2 107-43-7 247
2 Lipid Regulating Agents Phase 3,Phase 2
3 Gastrointestinal Agents Phase 3,Phase 2
4 Antimetabolites Phase 3,Phase 2
5 Hypolipidemic Agents Phase 3,Phase 2
6
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
7
Hydroxocobalamin Approved Phase 2 13422-51-0 11953898 44475014
8
Methylcobalamin Approved, Experimental, Investigational Phase 2 13422-55-4
9
Taurine Approved, Nutraceutical Phase 1, Phase 2 107-35-7 1123
10
Cyanocobalamin Approved, Nutraceutical Phase 2 68-19-9 44176380
11
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
12
Cobalamin Experimental Phase 2 13408-78-1 6438156
13 Antidotes Phase 2
14 Protective Agents Phase 2
15 N-monoacetylcystine Phase 2
16 Respiratory System Agents Phase 2
17 Expectorants Phase 2
18 Antioxidants Phase 2
19 Free Radical Scavengers Phase 2
20 Antiviral Agents Phase 2
21 Anti-Infective Agents Phase 2
22 Vitamin B 12 Phase 2
23 Vitamin B Complex Phase 2
24 Ubiquinone Phase 2
25 Vitamin B9 Phase 2
26 Vitamins Phase 2
27 Hematinics Phase 2
28 Folate Phase 2
29 Micronutrients Phase 2
30 Trace Elements Phase 2
31 Vitamin B12 Phase 2
32 Pharmaceutical Solutions Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Betaine and Peroxisome Biogenesis Disorders Completed NCT01838941 Phase 3 Betaine
2 Betaine METABOLISM OF PATIENTS With Homocystinuria Completed NCT02404337 Phase 2 Betaine
3 Homocystinuria: Treatment With N-Acetylcysteine Completed NCT00483314 Phase 2 N-acetylcysteine
4 Oxidative Stress Markers In Inherited Homocystinuria And The Impact Of Taurine Completed NCT01192828 Phase 1, Phase 2 taurine
5 EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment Completed NCT01793090 Phase 2 Epi-743
6 OT-58 as an Enzyme Replacement Therapy for Patients With Cystathionine Beta-Synthase Deficient Homocystinuria (CBSDH) Recruiting NCT03406611 Phase 1, Phase 2 OT-58;Placebo
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
10 Retrospective Study of Adult Patients With Inborn Errors of Metabolism in Switzerland Recruiting NCT03534752

Search NIH Clinical Center for Homocystinuria

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: homocystinuria

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Genetic Tests for Homocystinuria

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Genetic tests related to Homocystinuria:

# Genetic test Affiliating Genes
1 Homocystinuria 29
Sources

Anatomical Context for Homocystinuria

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MalaCards organs/tissues related to Homocystinuria:

41
Eye, Bone, Liver, Lung, Brain, Heart, Testes
Sources

Publications for Homocystinuria

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Articles related to Homocystinuria:

(show top 50) (show all 799)
# Title Authors Year
1
Is homocystinuria a real challenge for anesthetist? Are we making a difference? ( 29416496 )
2018
2
Late diagnosis of homocystinuria in an adult after extensive cerebral venous thrombosis. ( 29175875 )
2018
3
Pharmacokinetics and pharmacodynamics of PEGylated truncated human cystathionine beta-synthase for treatment of homocystinuria. ( 29526799 )
2018
4
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
5
Homocystinuria presenting as a calcified right atrial mass. ( 29922024 )
2018
6
Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria. ( 29875981 )
2018
7
Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria. ( 29743968 )
2018
8
Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome. ( 29294253 )
2018
9
Regressive pyridoxine-induced sensory neuronopathy in a patient with homocystinuria. ( 29954767 )
2018
10
CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients. ( 29352562 )
2018
11
Classical Homocystinuria in a Juvenile Patient. ( 29848432 )
2018
12
Isolated aortic root dilation in homocystinuria. ( 28980096 )
2018
13
Poorly Controlled Homocystinuria: A Rare Cause of Ischemic Priapism? ( 29463473 )
2018
14
Enzyme replacement therapy prevents loss of bone and fat mass in murine homocystinuria. ( 29044829 )
2018
15
Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization. ( 29326875 )
2018
16
Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria. ( 29508359 )
2018
17
Reversible Cerebral White Matter Abnormalities in Homocystinuria. ( 30187370 )
2018
18
CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients. ( 30264510 )
2018
19
Cytokines levels in late-diagnosed Classical Homocystinuria patients. ( 30294544 )
2018
20
In silico and in vivo models for Qatari-specific classical homocystinuria as basis for development of novel therapies. ( 30408270 )
2018
21
First report of homocystinuria-megaloblastic anaemia, cobalamin E complementation type, in an Indian child. ( 30466947 )
2018
22
Classic homocystinuria and keratoconus: a case report. ( 29995127 )
2018
23
Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report. ( 30103768 )
2018
24
Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria. ( 30157807 )
2018
25
Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake. ( 29270317 )
2017
26
Cerebral venous thrombosis as the first presentation of classical homocystinuria in an adult patient. ( 28137899 )
2017
27
Cerebral venous sinus thrombosis in homocystinuria: Dietary intervention in conjunction with anticoagulation. ( 28835823 )
2017
28
Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management. ( 28779878 )
2017
29
Arterial Stroke as an Isolated Manifestation of Homocystinuria in an Infant. ( 28904589 )
2017
30
Malar rash in classical homocystinuria. ( 28473367 )
2017
31
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
32
Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria. ( 29398487 )
2017
33
Homocystinuria with Cerebral Venous Sinus Thrombosis: Excellent Recovery with Intravenous Recombinant Tissue Plasminogen Activator. ( 28883877 )
2017
34
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
35
Engineering and Characterization of an Enzyme Replacement Therapy for Classical Homocystinuria. ( 28431470 )
2017
36
Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria. ( 29119254 )
2017
37
Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria. ( 28821635 )
2017
38
The c.797 G>A (p.R266K) cystathionine I^-synthase mutation causes homocystinuria by affecting protein stability. ( 28488385 )
2017
39
Spinal cord injury following a mild trauma in homocystinuria-related bone frailty: neurorehabilitation and education on bone health management. ( 28777128 )
2017
40
Homocystinuria with Stroke and Positive Familial History. ( 29279830 )
2017
41
Oxidative Stress in Homocystinuria Due to Cystathionine ß-Synthase Deficiency: Findings in Patients and in Animal Models. ( 28258516 )
2017
42
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. ( 27778219 )
2017
43
Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy. ( 28275971 )
2017
44
Vision of correction for classic homocystinuria. ( 27183384 )
2016
45
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
46
A Case of Homocystinuria Misdiagnosed as Moyamoya Disease: A Case Report. ( 27330833 )
2016
47
Enzyme replacement with PEGylated cystathionine I^-synthase ameliorates homocystinuria in murine model. ( 27183385 )
2016
48
Peripheral nerve involvement in classic homocystinuria: an unusual association. ( 27681349 )
2016
49
Endoplasmic Reticulum Stress and Autophagy in Homocystinuria Patients with Remethylation Defects. ( 26959487 )
2016
50
Low bone mineral density is a common finding in patients with homocystinuria. ( 26689745 )
2016
Sources

Variations for Homocystinuria

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ClinVar genetic disease variations for Homocystinuria:

6 (show top 50) (show all 104)
# 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.341C> T (p.Ala114Val) single nucleotide variant Pathogenic/Likely pathogenic rs121964964 GRCh37 Chromosome 21, 44486463: 44486463
4 CBS NM_000071.2(CBS): c.341C> T (p.Ala114Val) single nucleotide variant Pathogenic/Likely pathogenic rs121964964 GRCh38 Chromosome 21, 43066353: 43066353
5 CBS NM_000071.2(CBS): c.833T> C (p.Ile278Thr) single nucleotide variant Pathogenic rs5742905 GRCh37 Chromosome 21, 44483184: 44483184
6 CBS NM_000071.2(CBS): c.833T> C (p.Ile278Thr) single nucleotide variant Pathogenic rs5742905 GRCh38 Chromosome 21, 43063074: 43063074
7 CBS NM_000071.2(CBS): c.1224-2A> C single nucleotide variant Pathogenic rs375846341 GRCh37 Chromosome 21, 44479080: 44479080
8 CBS NM_000071.2(CBS): c.1224-2A> C single nucleotide variant Pathogenic rs375846341 GRCh38 Chromosome 21, 43058970: 43058970
9 CBS NM_000071.2(CBS): c.572C> T (p.Thr191Met) single nucleotide variant Pathogenic rs121964973 GRCh37 Chromosome 21, 44485591: 44485591
10 CBS NM_000071.2(CBS): c.572C> T (p.Thr191Met) single nucleotide variant Pathogenic rs121964973 GRCh38 Chromosome 21, 43065481: 43065481
11 CBS NM_000071.2(CBS): c.1080C> T (p.Ala360=) single nucleotide variant Benign rs1801181 GRCh37 Chromosome 21, 44480616: 44480616
12 CBS NM_000071.2(CBS): c.1080C> T (p.Ala360=) single nucleotide variant Benign rs1801181 GRCh38 Chromosome 21, 43060506: 43060506
13 CBS NM_000071.2(CBS): c.699C> T (p.Tyr233=) single nucleotide variant Benign rs234706 GRCh37 Chromosome 21, 44485350: 44485350
14 CBS NM_000071.2(CBS): c.699C> T (p.Tyr233=) single nucleotide variant Benign rs234706 GRCh38 Chromosome 21, 43065240: 43065240
15 CBS NM_000071.2(CBS): c.531+11G> A single nucleotide variant Conflicting interpretations of pathogenicity rs186114513 GRCh37 Chromosome 21, 44485715: 44485715
16 CBS NM_000071.2(CBS): c.531+11G> A single nucleotide variant Conflicting interpretations of pathogenicity rs186114513 GRCh38 Chromosome 21, 43065605: 43065605
17 CBS NM_000071.2(CBS): c.636C> T (p.Asn212=) single nucleotide variant Conflicting interpretations of pathogenicity rs2298758 GRCh37 Chromosome 21, 44485527: 44485527
18 CBS NM_000071.2(CBS): c.636C> T (p.Asn212=) single nucleotide variant Conflicting interpretations of pathogenicity rs2298758 GRCh38 Chromosome 21, 43065417: 43065417
19 CBS NM_000071.2(CBS): c.829-13G> A single nucleotide variant Conflicting interpretations of pathogenicity rs201106576 GRCh37 Chromosome 21, 44483201: 44483201
20 CBS NM_000071.2(CBS): c.829-13G> A single nucleotide variant Conflicting interpretations of pathogenicity rs201106576 GRCh38 Chromosome 21, 43063091: 43063091
21 CBS NM_000071.2(CBS): c.829-12C> T single nucleotide variant Conflicting interpretations of pathogenicity rs75616587 GRCh37 Chromosome 21, 44483200: 44483200
22 CBS NM_000071.2(CBS): c.829-12C> T single nucleotide variant Conflicting interpretations of pathogenicity rs75616587 GRCh38 Chromosome 21, 43063090: 43063090
23 CBS NM_000071.2(CBS): c.954+8G> A single nucleotide variant Conflicting interpretations of pathogenicity rs76292057 GRCh37 Chromosome 21, 44483055: 44483055
24 CBS NM_000071.2(CBS): c.954+8G> A single nucleotide variant Conflicting interpretations of pathogenicity rs76292057 GRCh38 Chromosome 21, 43062945: 43062945
25 CBS NM_000071.2(CBS): c.1145+7C> T single nucleotide variant Benign/Likely benign rs201158177 GRCh37 Chromosome 21, 44480544: 44480544
26 CBS NM_000071.2(CBS): c.1145+7C> T single nucleotide variant Benign/Likely benign rs201158177 GRCh38 Chromosome 21, 43060434: 43060434
27 CBS NM_000071.2(CBS): c.304A> C (p.Lys102Gln) single nucleotide variant Benign/Likely benign rs34040148 GRCh37 Chromosome 21, 44488631: 44488631
28 CBS NM_000071.2(CBS): c.304A> C (p.Lys102Gln) single nucleotide variant Benign/Likely benign rs34040148 GRCh38 Chromosome 21, 43068521: 43068521
29 CBS NM_000071.2(CBS): c.*10C> A single nucleotide variant Benign rs9978104 GRCh37 Chromosome 21, 44473980: 44473980
30 CBS NM_000071.2(CBS): c.*10C> A single nucleotide variant Benign rs9978104 GRCh38 Chromosome 21, 43053870: 43053870
31 CBS NM_000071.2(CBS): c.*123C> G single nucleotide variant Benign rs1051319 GRCh37 Chromosome 21, 44473867: 44473867
32 CBS NM_000071.2(CBS): c.*123C> G single nucleotide variant Benign rs1051319 GRCh38 Chromosome 21, 43053757: 43053757
33 CBS NM_000071.2(CBS): c.1359-14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs115185587 GRCh37 Chromosome 21, 44478377: 44478377
34 CBS NM_000071.2(CBS): c.1359-14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs115185587 GRCh38 Chromosome 21, 43058267: 43058267
35 CBS NM_000071.2(CBS): c.700G> A (p.Asp234Asn) single nucleotide variant Pathogenic rs773734233 GRCh38 Chromosome 21, 43065239: 43065239
36 CBS NM_000071.2(CBS): c.700G> A (p.Asp234Asn) single nucleotide variant Pathogenic rs773734233 GRCh37 Chromosome 21, 44485349: 44485349
37 CBS NM_000071.2(CBS): c.361C> T (p.Arg121Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs775992753 GRCh37 Chromosome 21, 44486443: 44486443
38 CBS NM_000071.2(CBS): c.361C> T (p.Arg121Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs775992753 GRCh38 Chromosome 21, 43066333: 43066333
39 CBS NM_000071.2(CBS): c.325T> C (p.Cys109Arg) single nucleotide variant Pathogenic/Likely pathogenic rs778220779 GRCh38 Chromosome 21, 43066369: 43066369
40 CBS NM_000071.2(CBS): c.325T> C (p.Cys109Arg) single nucleotide variant Pathogenic/Likely pathogenic rs778220779 GRCh37 Chromosome 21, 44486479: 44486479
41 CBS NM_000071.2(CBS): c.*540G> A single nucleotide variant Conflicting interpretations of pathogenicity rs111386779 GRCh37 Chromosome 21, 44473450: 44473450
42 CBS NM_000071.2(CBS): c.*540G> A single nucleotide variant Conflicting interpretations of pathogenicity rs111386779 GRCh38 Chromosome 21, 43053340: 43053340
43 CBS NM_000071.2(CBS): c.894G> A (p.Gln298=) single nucleotide variant Conflicting interpretations of pathogenicity rs370514077 GRCh37 Chromosome 21, 44483123: 44483123
44 CBS NM_000071.2(CBS): c.894G> A (p.Gln298=) single nucleotide variant Conflicting interpretations of pathogenicity rs370514077 GRCh38 Chromosome 21, 43063013: 43063013
45 CBS NM_000071.2(CBS): c.1161C> T (p.Ser387=) single nucleotide variant Conflicting interpretations of pathogenicity rs149280976 GRCh38 Chromosome 21, 43059288: 43059288
46 CBS NM_000071.2(CBS): c.1161C> T (p.Ser387=) single nucleotide variant Conflicting interpretations of pathogenicity rs149280976 GRCh37 Chromosome 21, 44479398: 44479398
47 CBS NM_000071.2(CBS): c.786G> A (p.Thr262=) single nucleotide variant Conflicting interpretations of pathogenicity rs551782391 GRCh37 Chromosome 21, 44484052: 44484052
48 CBS NM_000071.2(CBS): c.786G> A (p.Thr262=) single nucleotide variant Conflicting interpretations of pathogenicity rs551782391 GRCh38 Chromosome 21, 43063942: 43063942
49 CBS NM_000071.2(CBS): c.1200_1202delGGA (p.Glu400del) deletion Uncertain significance rs745438246 GRCh37 Chromosome 21, 44479357: 44479359
50 CBS NM_000071.2(CBS): c.1200_1202delGGA (p.Glu400del) deletion Uncertain significance rs745438246 GRCh38 Chromosome 21, 43059247: 43059249
Sources

Expression for Homocystinuria

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Search GEO for disease gene expression data for Homocystinuria.
Sources

Pathways for Homocystinuria

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Pathways related to Homocystinuria according to KEGG:

37
# 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 12)
# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.79 ABCD4 CBS LMBRD1 MAT1A MMACHC MMADHC
2
Metabolism of water-soluble vitamins and cofactors 66
Show member pathways
 12.17 ABCD4 LMBRD1 MMACHC MMADHC MTHFR MTR
3
Carbon metabolism 37
Show member pathways
 12.1 CBS MAT1A MTHFR MTR
4
Selenium Micronutrient Network 1
Show member pathways
 12.07 CBS MAT1A MTHFR MTR MTRR TCN2
5
Sulfur amino acid metabolism 66
Show member pathways
 11.79 CBS MAT1A MTR MTRR
6
One carbon pool by folate 37
Show member pathways
 11.78 CBS MAT1A MTHFR MTR MTRR TCN2
7
Diseases of metabolism 66
Show member pathways
 11.69 MMACHC MMADHC MTR MTRR TCN2
8
superpathway of methionine degradation 1
Show member pathways
 10.99 CBS MAT1A
9
Vitamin digestion and absorption 37
10.92 LMBRD1 MMACHC TCN2
10
Cobalamin (Cbl, vitamin B12) transport and metabolism 66
10.49 ABCD4 LMBRD1 MMACHC MMADHC MTR MTRR
11
Folate-Alcohol and Cancer Pathway 1
10.4 CBS MTHFR
12
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG 66
Show member pathways
 10.03 MTR MTRR
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GO Terms for Homocystinuria

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.65 F5 FBN1 SERPINC1
2 cellular amino acid biosynthetic process GO:0008652 9.5 CBS MTR MTRR
3 blood circulation GO:0008015 9.49 F5 MTHFR
4 one-carbon metabolic process GO:0006730 9.46 MAT1A MTHFR
5 folic acid metabolic process GO:0046655 9.43 MTHFR MTRR
6 cobalamin transport GO:0015889 9.4 LMBRD1 TCN2
7 methionine metabolic process GO:0006555 9.37 MTHFR MTRR
8 methionine biosynthetic process GO:0009086 9.33 MTHFR MTR MTRR
9 homocysteine catabolic process GO:0043418 9.26 CBS MTRR
10 cobalamin metabolic process GO:0009235 9.17 ABCD4 LMBRD1 MMACHC MMADHC MTR MTRR
11 homocysteine metabolic process GO:0050667 9.13 CBS MTHFR 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 modified amino acid binding GO:0072341 9.16 CBS MTHFR
3 FAD binding GO:0071949 9.13 MMACHC MTHFR MTRR
4 cobalamin binding GO:0031419 8.92 LMBRD1 MMACHC MTR TCN2
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Sources for Homocystinuria

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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