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MCID: HMC002
MIFTS: 50

Homocystinuria

Categories: Rare diseases, Metabolic 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
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 190709008
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 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 : 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 192)
# Related Disease Score Top Affiliating Genes
1 methylmalonic acidemia with homocystinuria 34.8 MMACHC MMADHC
2 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 34.5 MTHFR MTR
3 methylmalonic aciduria and homocystinuria, cblc type 34.5 CBS MMACHC MTR
4 methylmalonic aciduria and homocystinuria type cble 33.8 MTR MTRR
5 methylmalonic aciduria and homocystinuria type cblg 33.8 MTR MTRR
6 isolated ectopia lentis 30.6 CBS FBN1
7 methionine adenosyltransferase i/iii deficiency 30.2 CBS MAT1A
8 methylmalonic aciduria, cblb type 30.2 LMBRD1 MMACHC MMADHC MTHFR MTR TCN2
9 lens subluxation 30.0 CBS FBN1 MTHFR
10 hypermethioninemia 30.0 CBS MAT1A
11 neural tube defects, folate-sensitive 29.9 MTHFR MTR MTRR
12 sagittal sinus thrombosis 29.6 F5 SERPINC1
13 vitamin b12 deficiency 29.5 MTHFR MTR TCN2
14 thrombosis 29.5 F5 MTHFR SERPINC1
15 homocysteinemia 29.3 CBS F5 MMACHC MTHFR MTR MTRR
16 retinal artery occlusion 28.9 F5 MTHFR SERPINC1
17 thrombophilia due to thrombin defect 28.7 CBS F5 MTHFR SERPINC1
18 thrombophlebitis 28.6 F5 MTHFR SERPINC1
19 portal vein thrombosis 28.6 F5 MTHFR SERPINC1
20 megaloblastic anemia 28.5 LMBRD1 MMADHC MTHFR MTR MTRR TCN2
21 thrombophilia 28.4 CBS F5 MTHFR SERPINC1
22 neural tube defects 28.4 CBS MTHFR MTR MTRR TCN2
23 stroke, ischemic 28.0 F5 FBN1 MTHFR SERPINC1
24 transcobalamin ii deficiency 27.7 LMBRD1 MMADHC MTHFR MTR MTRR TCN2
25 vascular disease 27.6 CBS F5 MTHFR MTR MTRR SERPINC1
26 homocystinuria due to cystathionine beta-synthase deficiency 12.4
27 methylmalonic aciduria and homocystinuria, cbld type 12.4
28 homocystinuria-megaloblastic anemia, cblg complementation type 12.3
29 homocystinuria due to cbs deficiency 12.3
30 methylmalonic aciduria and homocystinuria, cblf type 12.3
31 homocystinuria-megaloblastic anemia, cble complementation type 12.3
32 methylmalonic aciduria and homocystinuria, cblj type 12.2
33 homocystinuria caused by cystathionine beta-synthase deficiency 12.0
34 methylmalonic acidemia with homocystinuria type cblj 11.9
35 homocystinuria without methylmalonic aciduria 11.9
36 homocystinuria due to defect in methylation cbl e 11.8
37 homocystinuria due to defect in methylation cbl g 11.8
38 methylmalonic acidemia and homocysteinemia, cblx type 11.6
39 pneumothorax, primary spontaneous 11.1
40 vitamin b12-responsive methylmalonic acidemia 11.0
41 ectopia lentis 2, isolated, autosomal recessive 10.8
42 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 10.8
43 methylmalonic aciduria, cbla type 10.8
44 5-oxoprolinase deficiency 10.8
45 mthfr gene variant 10.8
46 pectus carinatum 10.8
47 nondisjunction 10.6 MTHFR MTRR
48 organic acidemia 10.5 MMACHC MMADHC
49 blood protein disease 10.3 MTHFR SERPINC1
50 marantic endocarditis 10.3 MTHFR SERPINC1

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 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 Lipid Regulating Agents Phase 3,Phase 2
5 Antimetabolites Phase 3,Phase 2
6
Hydroxocobalamin Approved Phase 2 13422-51-0 11953898 44475014
7
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
8
Methylcobalamin Approved, Experimental, Investigational, Nutraceutical Phase 2 13422-55-4
9
Taurine Approved, Nutraceutical Phase 1, Phase 2 107-35-7 1123
10
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
11
Cyanocobalamin Approved, Nutraceutical Phase 2 68-19-9 44176380
12 Ubiquinone Phase 2
13 Respiratory System Agents Phase 2
14 Micronutrients Phase 2
15 Hematinics Phase 2
16 N-monoacetylcystine Phase 2
17 Trace Elements Phase 2
18 Vitamin B 12 Phase 2
19 Vitamin B Complex Phase 2
20 Vitamins Phase 2
21 Expectorants Phase 2
22 Antidotes Phase 2
23 Anti-Infective Agents Phase 2
24 Antioxidants Phase 2
25 Protective Agents Phase 2
26 Antiviral Agents Phase 2
27 Pharmaceutical Solutions Phase 1, Phase 2
28 Vitamin B12 Nutraceutical Phase 2
29 Folate 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 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) Not yet 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
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Anatomical Context for Homocystinuria

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MalaCards organs/tissues related to Homocystinuria:

41
Eye, Bone, Liver, Testes, Skin, Brain, Endothelial
Sources

Publications for Homocystinuria

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Articles related to Homocystinuria:

(show top 50) (show all 623)
# 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
Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake. ( 29270317 )
2017
18
Cerebral venous thrombosis as the first presentation of classical homocystinuria in an adult patient. ( 28137899 )
2017
19
Cerebral venous sinus thrombosis in homocystinuria: Dietary intervention in conjunction with anticoagulation. ( 28835823 )
2017
20
Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management. ( 28779878 )
2017
21
Arterial Stroke as an Isolated Manifestation of Homocystinuria in an Infant. ( 28904589 )
2017
22
Malar rash in classical homocystinuria. ( 28473367 )
2017
23
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
24
Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria. ( 29398487 )
2017
25
Homocystinuria with Cerebral Venous Sinus Thrombosis: Excellent Recovery with Intravenous Recombinant Tissue Plasminogen Activator. ( 28883877 )
2017
26
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
27
Engineering and Characterization of an Enzyme Replacement Therapy for Classical Homocystinuria. ( 28431470 )
2017
28
Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria. ( 29119254 )
2017
29
Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria. ( 28821635 )
2017
30
The c.797 G>A (p.R266K) cystathionine I^-synthase mutation causes homocystinuria by affecting protein stability. ( 28488385 )
2017
31
Spinal cord injury following a mild trauma in homocystinuria-related bone frailty: neurorehabilitation and education on bone health management. ( 28777128 )
2017
32
Homocystinuria with Stroke and Positive Familial History. ( 29279830 )
2017
33
Oxidative Stress in Homocystinuria Due to Cystathionine A9-Synthase Deficiency: Findings in Patients and in Animal Models. ( 28258516 )
2017
34
Vision of correction for classic homocystinuria. ( 27183384 )
2016
35
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
36
A Case of Homocystinuria Misdiagnosed as Moyamoya Disease: A Case Report. ( 27330833 )
2016
37
Enzyme replacement with PEGylated cystathionine I^-synthase ameliorates homocystinuria in murine model. ( 27183385 )
2016
38
Peripheral nerve involvement in classic homocystinuria: an unusual association. ( 27681349 )
2016
39
Endoplasmic Reticulum Stress and Autophagy in Homocystinuria Patients with Remethylation Defects. ( 26959487 )
2016
40
Low bone mineral density is a common finding in patients with homocystinuria. ( 26689745 )
2016
41
Targeting Cystathionine Beta-Synthase Misfolding in Homocystinuria by Small Ligands: State of the Art and Future Directions. ( 26931358 )
2016
42
Homocystinuria: Therapeutic approach. ( 27059523 )
2016
43
Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy. ( 27325427 )
2016
44
Homocystinuria (HC) and Neurofibromatosis Type-1 (NF-1): An Unusual Presentation in a Child. ( 28666510 )
2016
45
Neurodevelopmental and Cognitive Outcomes of Classical Homocystinuria: Experience from Qatar. ( 25712383 )
2015
46
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines. ( 25762406 )
2015
47
Homocystinuria: A Rare Disorder Presenting as Cerebral Sinovenous Thrombosis. ( 26221164 )
2015
48
Cerebral sinovenous thrombosis in a child with homocystinuria. ( 26265866 )
2015
49
Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type(.). ( 26464686 )
2015
50
Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family. ( 26667307 )
2015
Sources

Variations for Homocystinuria

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ClinVar genetic disease variations for Homocystinuria:

6
(show top 50) (show all 86)
# 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.*10C> A single nucleotide variant Benign rs9978104 GRCh37 Chromosome 21, 44473980: 44473980
12 CBS NM_000071.2(CBS): c.*10C> A single nucleotide variant Benign rs9978104 GRCh38 Chromosome 21, 43053870: 43053870
13 CBS NM_000071.2(CBS): c.*123C> G single nucleotide variant Benign rs1051319 GRCh37 Chromosome 21, 44473867: 44473867
14 CBS NM_000071.2(CBS): c.*123C> G single nucleotide variant Benign rs1051319 GRCh38 Chromosome 21, 43053757: 43053757
15 CBS NM_000071.2(CBS): c.1359-14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs115185587 GRCh37 Chromosome 21, 44478377: 44478377
16 CBS NM_000071.2(CBS): c.1359-14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs115185587 GRCh38 Chromosome 21, 43058267: 43058267
17 CBS NM_000071.2(CBS): c.700G> A (p.Asp234Asn) single nucleotide variant Pathogenic rs773734233 GRCh38 Chromosome 21, 43065239: 43065239
18 CBS NM_000071.2(CBS): c.700G> A (p.Asp234Asn) single nucleotide variant Pathogenic rs773734233 GRCh37 Chromosome 21, 44485349: 44485349
19 CBS NM_000071.2(CBS): c.361C> T (p.Arg121Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs775992753 GRCh37 Chromosome 21, 44486443: 44486443
20 CBS NM_000071.2(CBS): c.361C> T (p.Arg121Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs775992753 GRCh38 Chromosome 21, 43066333: 43066333
21 CBS NM_000071.2(CBS): c.325T> C (p.Cys109Arg) single nucleotide variant Pathogenic rs778220779 GRCh38 Chromosome 21, 43066369: 43066369
22 CBS NM_000071.2(CBS): c.325T> C (p.Cys109Arg) single nucleotide variant Pathogenic rs778220779 GRCh37 Chromosome 21, 44486479: 44486479
23 CBS NM_000071.2(CBS): c.*540G> A single nucleotide variant Conflicting interpretations of pathogenicity rs111386779 GRCh37 Chromosome 21, 44473450: 44473450
24 CBS NM_000071.2(CBS): c.*540G> A single nucleotide variant Conflicting interpretations of pathogenicity rs111386779 GRCh38 Chromosome 21, 43053340: 43053340
25 CBS NM_000071.2(CBS): c.894G> A (p.Gln298=) single nucleotide variant Conflicting interpretations of pathogenicity rs370514077 GRCh37 Chromosome 21, 44483123: 44483123
26 CBS NM_000071.2(CBS): c.894G> A (p.Gln298=) single nucleotide variant Conflicting interpretations of pathogenicity rs370514077 GRCh38 Chromosome 21, 43063013: 43063013
27 CBS NM_000071.2(CBS): c.1161C> T (p.Ser387=) single nucleotide variant Conflicting interpretations of pathogenicity rs149280976 GRCh38 Chromosome 21, 43059288: 43059288
28 CBS NM_000071.2(CBS): c.1161C> T (p.Ser387=) single nucleotide variant Conflicting interpretations of pathogenicity rs149280976 GRCh37 Chromosome 21, 44479398: 44479398
29 CBS NM_000071.2(CBS): c.786G> A (p.Thr262=) single nucleotide variant Conflicting interpretations of pathogenicity rs551782391 GRCh37 Chromosome 21, 44484052: 44484052
30 CBS NM_000071.2(CBS): c.786G> A (p.Thr262=) single nucleotide variant Conflicting interpretations of pathogenicity rs551782391 GRCh38 Chromosome 21, 43063942: 43063942
31 CBS NM_000071.2(CBS): c.1200_1202delGGA (p.Glu400del) deletion Uncertain significance rs745438246 GRCh37 Chromosome 21, 44479357: 44479359
32 CBS NM_000071.2(CBS): c.1200_1202delGGA (p.Glu400del) deletion Uncertain significance rs745438246 GRCh38 Chromosome 21, 43059247: 43059249
33 CBS NM_000071.2(CBS): c.612G> T (p.Val204=) single nucleotide variant Conflicting interpretations of pathogenicity rs539670390 GRCh37 Chromosome 21, 44485551: 44485551
34 CBS NM_000071.2(CBS): c.612G> T (p.Val204=) single nucleotide variant Conflicting interpretations of pathogenicity rs539670390 GRCh38 Chromosome 21, 43065441: 43065441
35 CBS NM_000071.2(CBS): c.600G> A (p.Pro200=) single nucleotide variant Conflicting interpretations of pathogenicity rs181472622 GRCh37 Chromosome 21, 44485563: 44485563
36 CBS NM_000071.2(CBS): c.600G> A (p.Pro200=) single nucleotide variant Conflicting interpretations of pathogenicity rs181472622 GRCh38 Chromosome 21, 43065453: 43065453
37 CBS NM_000071.2(CBS): c.373C> T (p.Arg125Trp) single nucleotide variant Likely pathogenic rs886057100 GRCh37 Chromosome 21, 44486431: 44486431
38 CBS NM_000071.2(CBS): c.373C> T (p.Arg125Trp) single nucleotide variant Likely pathogenic rs886057100 GRCh38 Chromosome 21, 43066321: 43066321
39 CBS NM_000071.2(CBS): c.352G> A (p.Val118Met) single nucleotide variant Uncertain significance rs763385546 GRCh37 Chromosome 21, 44486452: 44486452
40 CBS NM_000071.2(CBS): c.352G> A (p.Val118Met) single nucleotide variant Uncertain significance rs763385546 GRCh38 Chromosome 21, 43066342: 43066342
41 CBS NM_000071.2(CBS): c.-136C> T single nucleotide variant Uncertain significance rs543595103 GRCh38 Chromosome 21, 43075821: 43075821
42 CBS NM_000071.2(CBS): c.-136C> T single nucleotide variant Uncertain significance rs543595103 GRCh37 Chromosome 21, 44495931: 44495931
43 CBS NM_000071.2(CBS): c.*592T> A single nucleotide variant Uncertain significance rs866356348 GRCh37 Chromosome 21, 44473398: 44473398
44 CBS NM_000071.2(CBS): c.*592T> A single nucleotide variant Uncertain significance rs866356348 GRCh38 Chromosome 21, 43053288: 43053288
45 CBS NM_000071.2(CBS): c.*565C> T single nucleotide variant Benign rs706209 GRCh37 Chromosome 21, 44473425: 44473425
46 CBS NM_000071.2(CBS): c.*565C> T single nucleotide variant Benign rs706209 GRCh38 Chromosome 21, 43053315: 43053315
47 CBS NM_000071.2(CBS): c.*544T> C single nucleotide variant Benign rs706208 GRCh37 Chromosome 21, 44473446: 44473446
48 CBS NM_000071.2(CBS): c.*544T> C single nucleotide variant Benign rs706208 GRCh38 Chromosome 21, 43053336: 43053336
49 CBS NM_000071.2(CBS): c.*383C> T single nucleotide variant Likely benign rs73372352 GRCh37 Chromosome 21, 44473607: 44473607
50 CBS NM_000071.2(CBS): c.*383C> T single nucleotide variant Likely benign rs73372352 GRCh38 Chromosome 21, 43053497: 43053497
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
 13.81 ABCD4 CBS LMBRD1 MAT1A MMACHC MMADHC
2
Metabolism of water-soluble vitamins and cofactors 66
Show member pathways
 12.16 ABCD4 LMBRD1 MMACHC MMADHC MTHFR MTR
3
Carbon metabolism 37
Show member pathways
 12.08 CBS MAT1A MTHFR MTR
4
Folate Metabolism 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
Show member pathways
 10.45 CBS MTHFR
12
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG 66
Show member pathways
 10.03 MTR MTRR
Sources

GO Terms for Homocystinuria

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

(show all 12)
# 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 blood circulation GO:0008015 9.51 F5 MTHFR
4 cellular amino acid biosynthetic process GO:0008652 9.5 CBS MTR MTRR
5 one-carbon metabolic process GO:0006730 9.46 MAT1A MTHFR
6 folic acid metabolic process GO:0046655 9.43 MTHFR MTRR
7 methionine biosynthetic process GO:0009086 9.4 MTR MTRR
8 methionine metabolic process GO:0006555 9.37 MTHFR MTRR
9 sulfur amino acid metabolic process GO:0000096 9.33 MAT1A MTR MTRR
10 homocysteine catabolic process GO:0043418 9.26 CBS MTRR
11 cobalamin metabolic process GO:0009235 9.17 ABCD4 LMBRD1 MMACHC MMADHC MTR MTRR
12 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 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

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
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46 MGI
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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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