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MCID: HMC002
MIFTS: 52

Homocystinuria

Categories: Genetic 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 75 53 25 37 29 55 6 44 15 72
Cystathionine Beta Synthase Deficiency 12 25
Homocysteinemia 25 72
Cystathionine Beta-Synthase Deficiency Disease 72
Cystathionine Synthase Deficiency 12
Cbs Deficiency 12

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases Genetic diseases
See all MalaCards categories (disease lists)


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Disease Ontology 12 DOID:9263
KEGG 37 H00183
MeSH 44 D006712
NCIt 50 C84765
SNOMED-CT 68 11282001
ICD10 33 E72.11
UMLS 72 C0019880 C0751202 C3495426
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Summaries for Homocystinuria

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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. Less common forms of homocystinuria can cause intellectual disability, failure to grow and gain weight at the expected rate (failure to thrive), seizures, problems with movement, and a blood disorder called megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic). The signs and symptoms of homocystinuria typically develop within the first year of life, although some mildly affected people may not develop features until later in childhood or adulthood.

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 Methylcobalamin and Enalapril have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and testes.

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.

NIH Rare Diseases : 53 Homocystinuria refers to a group of inherited disorders in which the body is unable to process certain building blocks of proteins (amino acids) properly. This leads to increased amounts of homocysteine and other amnio acids in the blood and urine. The most common type of genetic homocystinuria, called CBS deficiency, is caused by the lack of an enzyme known as cystathionine beta-synthase (CBS). Most states in the United States test for homocystinuria due to CBS deficiency at birth by newborn screening. Other types are less common, and are caused by different missing or non-working enzymes. Homocystinuria can affect the eyes, skeleton, central nervous system and the blood clotting system. Mutations in the MTHFR, MTR, MTRR and MMADHC genes can cause homocystinuria. All these forms of homocystinuria are inherited in an autosomal recessive manner. Treatment and long-term outlook varies depending upon the cause of the disorder.

KEGG : 37
Homocystinuria is a metabolic disorder due to cystathionine beta-synthase deficiency leading to various malfunctions in the eyes and the central nervous, skeletal, and vascular systems.

Wikipedia : 75 Homocystinuria is an inherited disorder of the metabolism of the amino acid methionine due to a... 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 403)
# Related Disease Score Top Affiliating Genes
1 methylmalonic acidemia with homocystinuria 35.1 MMADHC MMACHC
2 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 34.7 MTR MTHFR
3 methylmalonic aciduria and homocystinuria, cblc type 34.7 MTR MMACHC CBS
4 methylmalonic aciduria and homocystinuria type cblg 34.0 MTRR MTR
5 methylmalonic aciduria and homocystinuria type cble 34.0 MTRR MTR
6 glycine n-methyltransferase deficiency 32.5 MTHFR CBS
7 isolated ectopia lentis 31.4 FBN1 CBS
8 cystathioninuria 30.6 MTHFR CBS
9 lens subluxation 30.5 MTHFR FBN1 CBS
10 homocysteinemia 30.4 SERPINC1 MTRR MTR MTHFR MMACHC F5
11 sagittal sinus thrombosis 30.4 SERPINC1 F5
12 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 30.3 TCN2 MTR MTHFR MMADHC MMACHC LMBRD1
13 thrombosis 30.3 SERPINC1 MTHFR F5
14 organic acidemia 30.3 MMADHC MMACHC
15 amaurosis fugax 30.2 MTHFR F5
16 down syndrome 30.1 MTRR MTHFR CBS
17 amino acid metabolic disorder 30.0 MTR MTHFR MMACHC CBS
18 marantic endocarditis 30.0 SERPINC1 MTHFR
19 livedoid vasculitis 30.0 SERPINC1 MTHFR
20 cerebrovascular disease 30.0 MTR MTHFR F5 CBS
21 pulmonary embolism 29.9 SERPINC1 MTHFR F5
22 branch retinal artery occlusion 29.9 SERPINC1 MTHFR
23 neural tube defects, folate-sensitive 29.9 MTRR MTR MTHFR
24 vitamin b12 deficiency 29.8 TCN2 MTR MTHFR
25 thrombophilia due to thrombin defect 29.8 SERPINC1 MTHFR F5 CBS
26 disorders of intracellular cobalamin metabolism 29.7 MTRR MTR MMADHC MMACHC LMBRD1 ABCD4
27 thrombophilia 29.7 SERPINC1 MTHFR F5
28 legg-calve-perthes disease 29.6 SERPINC1 F5
29 intracranial thrombosis 29.6 SERPINC1 MTHFR F5
30 thrombophlebitis 29.5 SERPINC1 MTHFR F5
31 retinal artery occlusion 29.4 SERPINC1 MTHFR F5
32 thrombophilia due to activated protein c resistance 29.4 SERPINC1 MTHFR F5
33 portal vein thrombosis 29.2 SERPINC1 MTHFR F5
34 heart disease 29.2 SERPINC1 MTR MTHFR CBS
35 placenta disease 29.2 SERPINC1 MTHFR F5
36 stroke, ischemic 29.1 SERPINC1 MTHFR FBN1 F5
37 vascular disease 29.0 SERPINC1 MTRR MTR MTHFR F5 CBS
38 pre-eclampsia 28.8 SERPINC1 MTHFR F5
39 megaloblastic anemia 28.7 TCN2 MTRR MTR MTHFR MMADHC LMBRD1
40 myocardial infarction 28.6 SERPINC1 MTHFR F5 CBS
41 neural tube defects 28.6 TCN2 MTRR MTR MTHFR CBS
42 transcobalamin ii deficiency 27.8 TCN2 MTRR MTR MTHFR MMADHC LMBRD1
43 methylmalonic aciduria and homocystinuria, cbld type 12.8
44 homocystinuria due to cystathionine beta-synthase deficiency 12.8
45 homocystinuria-megaloblastic anemia, cble complementation type 12.7
46 homocystinuria due to cbs deficiency 12.7
47 homocystinuria-megaloblastic anemia, cblg complementation type 12.6
48 methylmalonic aciduria and homocystinuria, cblf type 12.6
49 methylmalonic aciduria and homocystinuria, cblj type 12.5
50 homocystinuria caused by cystathionine beta-synthase deficiency 12.3

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
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Drugs & Therapeutics for Homocystinuria

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

(show top 50) (show all 57)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylcobalamin Approved, Experimental, Investigational Phase 3 13422-55-4
2
Enalapril Approved, Vet_approved Phase 2, Phase 3 75847-73-3 5362032 40466924
3
Enalaprilat Approved Phase 2, Phase 3 76420-72-9 6917719
4
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
5
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
6
Maleic acid Experimental, Investigational Phase 2, Phase 3 110-17-8, 110-16-7 444972
7 Gastrointestinal Agents Phase 3
8 Lipid Regulating Agents Phase 3
9 Hypolipidemic Agents Phase 3
10 Antimetabolites Phase 3
11 Vitamin B 6 Phase 3
12 Antihypertensive Agents Phase 2, Phase 3
13 HIV Protease Inhibitors Phase 2, Phase 3
14
protease inhibitors Phase 2, Phase 3
15 Angiotensin-Converting Enzyme Inhibitors Phase 2, Phase 3
16
Pyridoxal Experimental, Nutraceutical Phase 3 66-72-8 1050
17
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
18
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
19
Taurine Approved, Nutraceutical Phase 1, Phase 2 107-35-7 1123
20 Ubiquinone Phase 2
21 Pharmaceutical Solutions Phase 1, Phase 2
22 Analgesics, Non-Narcotic Phase 1, Phase 2
23 N-monoacetylcystine Phase 1, Phase 2
24 Respiratory System Agents Phase 1, Phase 2
25 Antidotes Phase 1, Phase 2
26 Antioxidants Phase 1, Phase 2
27 Free Radical Scavengers Phase 1, Phase 2
28 Analgesics Phase 1, Phase 2
29 Anti-Infective Agents Phase 1, Phase 2
30 Protective Agents Phase 1, Phase 2
31 cysteine Phase 1, Phase 2
32 Liver Extracts Phase 1, Phase 2
33 Expectorants Phase 1, Phase 2
34 Antipyretics Phase 1, Phase 2
35 Peripheral Nervous System Agents Phase 1, Phase 2
36 Antiviral Agents Phase 1, Phase 2
37
Temozolomide Approved, Investigational Phase 1 85622-93-1 5394
38
Methionine Approved, Nutraceutical Phase 1 63-68-3 6137
39 Alkylating Agents Phase 1
40 Antineoplastic Agents, Alkylating Phase 1
41
Zoledronic Acid Approved 118072-93-8 68740
42
leucovorin Approved 58-05-9 143 6006
43
Hydroxocobalamin Approved 13422-51-0 11953898 15589840
44
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
45
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
46
Cobalamin Experimental 13408-78-1 6857388
47 Bone Density Conservation Agents
48 Micronutrients
49 Trace Elements
50 Vitamins

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 CSP #453 - Homocysteinemia in Kidney and Endstage Renal Disease Study (HOST) Completed NCT00032435 Phase 3 PAL-40 Active;PAL-40 Placebo
2 A Pilot, Open Label Trial Assessing the Safety and Efficacy of Betaine in Children With Peroxisome Biogenesis Disorders. Completed NCT01838941 Phase 3 Betaine
3 Department of Geriatrics Completed NCT02575092 Phase 2, Phase 3 Enalapril Maleate Tablets(as the program-based antihypertension);Enalapril Maleate and Folic Acid tablets(as the program-based antihypertension);Placebo
4 Oxidative Stress Markers In Inherited Homocystinuria And The Impact Of Taurine Completed NCT01192828 Phase 1, Phase 2 taurine
5 Betaine METABOLISM OF PATIENTS With Homocystinuria Completed NCT02404337 Phase 2 Betaine
6 Homocystinuria: Treatment With N-Acetylcysteine Completed NCT00483314 Phase 2 N-acetylcysteine
7 Phase 2, Double-Blind, Placebo Controlled Clinical Trial of EPI-743 in Subjects With Cobalamin C Defect Completed NCT01793090 Phase 2 Epi-743
8 Efficacy of Betaine for Reduction of Urine Oxalate in Patients With Type 1 Primary Hyperoxaluria Completed NCT00283387 Phase 2 Betaine;Placebo
9 A Double Blind, Randomized, Placebo-controlled, Phase 1/2 Study to Assess the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Effects on Clinical Outcomes of OT-58, Administered Subcutaneously in Patients With Cystathionine Beta-Synthase Deficient Homocystinuria (CBSDH). Recruiting NCT03406611 Phase 1, Phase 2 OT-58;Placebo
10 Functional Consequences and Therapeutic Intervention in Hampered Production of Cysteine, Glutathione and Taurine in Classical Homocystinuria Not yet recruiting NCT04015557 Phase 1, Phase 2 Acetaminophen;N-acetylcysteine
11 A Phase I Study of Dietary Methionine Restriction and Temodar® (Temozolomide) for the Treatment of Recurrent and Progressive Glioblastoma Multiforme Terminated NCT00508456 Phase 1 Temodar (Temozolomide)
12 Molecular Genetic Study of Suspected Cases of Osteogenesis Imperfecta Attending Assiut University Children Hospital Unknown status NCT03169192 Zoledronic Acid
13 Study of Homocysteine Metabolism in Homocystinuria Completed NCT00004356
14 Effect of Cerefolin®/CerefolinNAC® on Biomarker Measurements in Patients With Mild Cognitive Impairment, Alzheimer's Disease and Related Disorders Completed NCT01745198
15 Normal Values of Oxidative Stress, Taurine, and Related Markers Completed NCT02649777
16 Human Lipoprotein Pathophysiology - Subproject: Genetics of Familial Combined Hyperlipidemia Completed NCT00005313
17 The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis: A Case-Control Study Completed NCT00071903
18 Investigating the Effects of Exercises in Addition to Dynamic Compression Brace in Patients With Pectus Carinatum: a Single Blinded Randomized Controlled Trial Completed NCT03559244
19 A Multicenter, Observational, Prospective, Natural History Study of Homocystinuria Due to Cystathionine Beta-synthase Deficiency in Pediatric and Adult Patients Recruiting NCT02998710
20 Effects of Exercise on Metabolic Parameters in Treated Patients With Classical Homocystinuria: a Research Project on a Small Sample Size, Compared to Healthy Controls. Recruiting NCT04021732
21 Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) and Related Disorders Recruiting NCT00078078
22 Effect of Adding Folic Acid on Lipid Parameters in Population With Dyslipidemias Not yet recruiting NCT03674333
23 Assessment of Vascular and Metabolic Changes in Post-menopausal Women With Type 2 Diabetes Mellitus Not yet recruiting NCT03273738

Search NIH Clinical Center for Homocystinuria

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Betaine
Betaine Hydrochloride
Glycine betaine

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, Testes, Endothelial, Liver, Heart, Brain
Sources

Publications for Homocystinuria

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Articles related to Homocystinuria:

(show top 50) (show all 2080)
# Title Authors PMID Year
1
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options. 38 6
29094226 2018
2
Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: characterization of two novel mutations in compound heterozygous patients. 9 38
20356773 2010
3
The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria. 9 38
20120036 2010
4
Diet in dermatology: revisited. 9 38
20228538 2010
5
A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency. 9 38
19819175 2010
6
Functional consequences of homocysteinylation of the elastic fiber proteins fibrillin-1 and tropoelastin. 9 38
19889633 2010
7
Production of synthetic methionine-free and synthetic methionine-limited alpha casein: protein foodstuff for patients with homocystinuria due to cystathionine beta-synthase deficiency. 9 38
20033268 2010
8
Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70. 9 38
20066033 2010
9
Heme regulation of human cystathionine beta-synthase activity: insights from fluorescence and Raman spectroscopy. 9 38
19722721 2009
10
[Updating neonatal neurometabolic screening]. 9 38
19240000 2009
11
Inherited metabolic disorders and cerebral infarction. 9 38
18986243 2008
12
Methylenetetrahydrofolate reductase deficiency (homocystinuria type II) as a rare cause of rapidly progressive tetraspasticity and psychosis in a previously healthy adult. 9 38
18854913 2008
13
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]. 9 38
19080473 2008
14
Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice. 9 38
18454451 2008
15
[Stroke and iridodonesis revealing a homocystinuria caused by a compound heterozygous mutation of cystathionine beta-synthase]. 9 38
18805305 2008
16
Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria. 9 38
18658082 2008
17
Homocystinuria due to cystathionine beta synthase deficiency. 9 38
18797062 2008
18
[A rare inborn error of intracellular processing of cobalamine presenting with microcephalus and megaloblastic anemia: a report of 3 children]. 9 38
18050048 2007
19
[Cystathionine betasynthase and MTHFR deficiencies in adults]. 9 38
18033026 2007
20
Polymorphic background of methionine synthase reductase modulates the phenotype of a disease-causing mutation. 9 38
17554763 2007
21
Cerebral infarctions manifesting as neonatal seizure. 9 38
17903413 2007
22
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report. 9 38
17347912 2007
23
Intermediate hyperhomocysteinaemia and compound heterozygosity for the common variant c.677C>T and a MTHFR gene mutation. 9 38
17457696 2007
24
DNA methylation status is not impaired in treated cystathionine beta-synthase (CBS) deficient patients. 9 38
17336565 2007
25
[Molecular genetics of MTHFR: polymorphisms are not all benign]. 9 38
17349292 2007
26
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion. 9 38
17072863 2007
27
Diagnostic significance of urinary thiodiglycolic acid as a possible tool for studying the role of vitamins B12 and folates in the metabolism of thiolic substances. 9 38
16497089 2007
28
Recombinant adeno-associated virus mediated gene transfer in a mouse model for homocystinuria. 9 38
17202841 2006
29
[Orientation of mental retardation from neurometabolic diseases]. 9 38
17061190 2006
30
Newborn screening fact sheets. 9 38
16950973 2006
31
Comprehensive cost-utility analysis of newborn screening strategies. 9 38
16735255 2006
32
Acute stroke in relation to homocysteine and methylenetetrahydrofolate reductase gene polymorphisms. 9 38
16629766 2006
33
Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria. 9 38
16307898 2006
34
High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia. 9 38
16470595 2006
35
Fibrillin-1 misfolding and disease. 9 38
16677079 2006
36
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]. 9 38
16398167 2005
37
Cystathionine beta-synthase is enriched in the brains of Down's patients. 9 38
16274669 2005
38
CBS domains: structure, function, and pathology in human proteins. 9 38
16275737 2005
39
Molecular analysis of homocystinuria in Brazilian patients. 9 38
15993874 2005
40
Cystathionine beta-synthase T833C/844INS68 polymorphism: a family-based study on mentally retarded children. 9 38
16375773 2005
41
Mapping peptides correlated with transmission of intrasteric inhibition and allosteric activation in human cystathionine beta-synthase. 9 38
16245937 2005
42
Cystathionine beta-synthase, a key enzyme for homocysteine metabolism, is preferentially expressed in the radial glia/astrocyte lineage of developing mouse CNS. 9 38
16160063 2005
43
Modification of the structure and function of fibrillin-1 by homocysteine suggests a potential pathogenetic mechanism in homocystinuria. 9 38
16096271 2005
44
The role of cystathionine beta-synthase in homocysteine metabolism. 9 38
15890029 2005
45
cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression. 9 38
15714522 2005
46
Molecular effects of homocysteine on cbEGF domain structure: insights into the pathogenesis of homocystinuria. 9 38
15713466 2005
47
Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria. 9 38
16205833 2005
48
Folate-induced reversal of leukoencephalopathy and intellectual decline in methylene-tetrahydrofolate reductase deficiency: variable response in siblings. 9 38
15686290 2005
49
Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency. 9 38
15217352 2004
50
Birth prevalence of homocystinuria. 9 38
15192637 2004
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Variations for Homocystinuria

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ClinVar genetic disease variations for Homocystinuria:

6 (show top 50) (show all 58)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CBS NM_000071.2(CBS): c.494G> A (p.Cys165Tyr) single nucleotide variant Pathogenic rs1347651454 21:44485763-44485763 21:43065653-43065653
2 CBS NM_000071.2(CBS): c.919G> A (p.Gly307Ser) single nucleotide variant Pathogenic rs121964962 21:44483098-44483098 21:43062988-43062988
3 CBS NM_000071.2(CBS): c.833T> C (p.Ile278Thr) single nucleotide variant Pathogenic rs5742905 21:44483184-44483184 21:43063074-43063074
4 CBS NM_000071.2(CBS): c.1224-2A> C single nucleotide variant Pathogenic rs375846341 21:44479080-44479080 21:43058970-43058970
5 CBS NM_000071.2(CBS): c.572C> T (p.Thr191Met) single nucleotide variant Pathogenic rs121964973 21:44485591-44485591 21:43065481-43065481
6 CBS NM_000071.2(CBS): c.700G> A (p.Asp234Asn) single nucleotide variant Pathogenic rs773734233 21:44485349-44485349 21:43065239-43065239
7 CBS NM_000071.2(CBS): c.526G> A (p.Glu176Lys) single nucleotide variant Pathogenic 21:44485731-44485731 21:43065621-43065621
8 CBS NM_000071.2(CBS): c.209+1G> A single nucleotide variant Pathogenic 21:44492094-44492094 21:43071984-43071984
9 CBS NM_000071.2(CBS): c.1039G> A (p.Gly347Ser) single nucleotide variant Pathogenic/Likely pathogenic rs771298943 21:44482421-44482421 21:43062311-43062311
10 CBS NM_000071.2(CBS): c.325T> C (p.Cys109Arg) single nucleotide variant Pathogenic/Likely pathogenic rs778220779 21:44486479-44486479 21:43066369-43066369
11 CBS NM_000071.2(CBS): c.1330G> A (p.Asp444Asn) single nucleotide variant Pathogenic/Likely pathogenic rs28934891 21:44478972-44478972 21:43058862-43058862
12 CBS NM_000071.2(CBS): c.341C> T (p.Ala114Val) single nucleotide variant Pathogenic/Likely pathogenic rs121964964 21:44486463-44486463 21:43066353-43066353
13 CBS NM_000071.2(CBS): c.1221del (p.Trp408fs) deletion Pathogenic/Likely pathogenic rs1361324844 21:44479338-44479338 21:43059228-43059228
14 CBS NM_000071.2(CBS): c.959T> C (p.Val320Ala) single nucleotide variant Likely pathogenic rs781567152 21:44482501-44482501 21:43062391-43062391
15 CBS NM_000071.2(CBS): c.531+11G> A single nucleotide variant Conflicting interpretations of pathogenicity rs186114513 21:44485715-44485715 21:43065605-43065605
16 CBS NM_000071.2(CBS): c.636C> T (p.Asn212=) single nucleotide variant Conflicting interpretations of pathogenicity rs2298758 21:44485527-44485527 21:43065417-43065417
17 CBS NM_000071.2(CBS): c.829-13G> A single nucleotide variant Conflicting interpretations of pathogenicity rs201106576 21:44483201-44483201 21:43063091-43063091
18 CBS NM_000071.2(CBS): c.829-12C> T single nucleotide variant Conflicting interpretations of pathogenicity rs75616587 21:44483200-44483200 21:43063090-43063090
19 CBS NM_000071.2(CBS): c.954+8G> A single nucleotide variant Conflicting interpretations of pathogenicity rs76292057 21:44483055-44483055 21:43062945-43062945
20 CBS NM_000071.2(CBS): c.-85+10G> C single nucleotide variant Conflicting interpretations of pathogenicity rs886057102 21:44495870-44495870 21:43075760-43075760
21 CBS NM_000071.2(CBS): c.924C> T (p.Tyr308=) single nucleotide variant Conflicting interpretations of pathogenicity rs149809170 21:44483093-44483093 21:43062983-43062983
22 CBS NM_000071.2(CBS): c.*540G> A single nucleotide variant Conflicting interpretations of pathogenicity rs111386779 21:44473450-44473450 21:43053340-43053340
23 CBS NM_000071.2(CBS): c.894G> A (p.Gln298=) single nucleotide variant Conflicting interpretations of pathogenicity rs370514077 21:44483123-44483123 21:43063013-43063013
24 CBS NM_000071.2(CBS): c.1161C> T (p.Ser387=) single nucleotide variant Conflicting interpretations of pathogenicity rs149280976 21:44479398-44479398 21:43059288-43059288
25 CBS NM_000071.2(CBS): c.786G> A (p.Thr262=) single nucleotide variant Conflicting interpretations of pathogenicity rs551782391 21:44484052-44484052 21:43063942-43063942
26 CBS NM_000071.2(CBS): c.770C> T (p.Thr257Met) single nucleotide variant Conflicting interpretations of pathogenicity rs758236584 21:44484068-44484068 21:43063958-43063958
27 CBS NM_000071.2(CBS): c.667-14_667-7del deletion Conflicting interpretations of pathogenicity rs764160782 21:44485389-44485396 21:43065279-43065286
28 CBS NM_000071.2(CBS): c.457G> A (p.Gly153Arg) single nucleotide variant Conflicting interpretations of pathogenicity 21:44485800-44485800 21:43065690-43065690
29 CBS NM_000071.2(CBS): c.612G> T (p.Val204=) single nucleotide variant Conflicting interpretations of pathogenicity rs539670390 21:44485551-44485551 21:43065441-43065441
30 CBS NM_000071.2(CBS): c.600G> A (p.Pro200=) single nucleotide variant Conflicting interpretations of pathogenicity rs181472622 21:44485563-44485563 21:43065453-43065453
31 CBS NM_000071.2(CBS): c.1359-14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs115185587 21:44478377-44478377 21:43058267-43058267
32 CBS NM_000071.2(CBS): c.352G> A (p.Val118Met) single nucleotide variant Uncertain significance rs763385546 21:44486452-44486452 21:43066342-43066342
33 CBS NM_000071.2(CBS): c.-136C> T single nucleotide variant Uncertain significance rs543595103 21:44495931-44495931 21:43075821-43075821
34 CBS NM_000071.2(CBS): c.1194_1196GGA[2] (p.Glu400del) short repeat Uncertain significance rs745438246 21:44479357-44479359 21:43059247-43059249
35 CBS NM_000071.2(CBS): c.301C> G (p.Leu101Val) single nucleotide variant Uncertain significance rs369644531 21:44488634-44488634 21:43068524-43068524
36 CBS NM_000071.2(CBS): c.-50dup duplication Uncertain significance rs886057101 21:44493417-44493417 21:43073307-43073307
37 CBS NM_000071.2(CBS): c.-160C> T single nucleotide variant Uncertain significance rs112271970 21:44495955-44495955 21:43075845-43075845
38 CBS NM_000071.2(CBS): c.*566G> A single nucleotide variant Uncertain significance rs111969522 21:44473424-44473424 21:43053314-43053314
39 CBS NM_000071.2(CBS): c.*472C> T single nucleotide variant Uncertain significance rs886057096 21:44473518-44473518 21:43053408-43053408
40 CBS NM_000071.2(CBS): c.*55_*57del deletion Uncertain significance rs886057097 21:44473933-44473935 21:43053823-43053825
41 CBS NM_000071.2(CBS): c.*592T> A single nucleotide variant Uncertain significance rs866356348 21:44473398-44473398 21:43053288-43053288
42 CBS NM_000071.2(CBS): c.1146-12C> T single nucleotide variant Uncertain significance rs199550738 21:44479425-44479425 21:43059315-43059315
43 CBS NM_000071.2(CBS): c.888G> A (p.Thr296=) single nucleotide variant Uncertain significance rs769593715 21:44483129-44483129 21:43063019-43063019
44 CBS NM_000071.2(CBS): c.532G> A (p.Val178Met) single nucleotide variant Uncertain significance rs370843514 21:44485631-44485631 21:43065521-43065521
45 CBS NM_000071.2(CBS): c.1453A> G (p.Lys485Glu) single nucleotide variant Uncertain significance rs886057098 21:44478269-44478269 21:43058159-43058159
46 CBS NM_000071.2(CBS): c.1357G> T (p.Gly453Trp) single nucleotide variant Uncertain significance rs886057099 21:44478945-44478945 21:43058835-43058835
47 CBS NM_000071.2(CBS): c.*383C> T single nucleotide variant Likely benign rs73372352 21:44473607-44473607 21:43053497-43053497
48 CBS NM_000071.2(CBS): c.*299G> A single nucleotide variant Likely benign rs12613 21:44473691-44473691 21:43053581-43053581
49 CBS NM_000071.2(CBS): c.*81G> A single nucleotide variant Likely benign rs115406358 21:44473909-44473909 21:43053799-43053799
50 CBS NM_000071.2(CBS): c.1145+7C> T single nucleotide variant Benign/Likely benign rs201158177 21:44480544-44480544 21:43060434-43060434
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 11)
# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.76 TCN2 MTRR MTR MTHFR MMADHC MMACHC
2
Metabolism of water-soluble vitamins and cofactors 66
Show member pathways
 12.16 TCN2 MTRR MTR MTHFR MMADHC MMACHC
3
Selenium Micronutrient Network 1
Show member pathways
 12.05 TCN2 MTRR MTR MTHFR CBS
4
Carbon metabolism 37
Show member pathways
 12 MTR MTHFR CBS
5
One carbon pool by folate 37
Show member pathways
 11.8 TCN2 MTRR MTR MTHFR CBS
6
Sulfur amino acid metabolism 66
Show member pathways
 11.75 MTRR MTR CBS
7
Diseases of metabolism 66
Show member pathways
 11.52 TCN2 MTRR MTR MMADHC MMACHC
8
Vitamin digestion and absorption 37
10.92 TCN2 MMACHC LMBRD1
9
Cobalamin (Cbl, vitamin B12) transport and metabolism 66
10.49 TCN2 MTRR MTR MMADHC MMACHC LMBRD1
10
Folate-Alcohol and Cancer Pathway 1
10.34 MTHFR CBS
11
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE 66
Show member pathways
 10.01 MTRR MTR
Sources

GO Terms for Homocystinuria

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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 SERPINC1 FBN1 F5
2 cellular amino acid biosynthetic process GO:0008652 9.5 MTRR MTR CBS
3 blood circulation GO:0008015 9.48 MTHFR F5
4 folic acid metabolic process GO:0046655 9.43 MTRR MTHFR
5 cobalamin transport GO:0015889 9.4 TCN2 LMBRD1
6 methionine metabolic process GO:0006555 9.37 MTRR MTHFR
7 methionine biosynthetic process GO:0009086 9.33 MTRR MTR MTHFR
8 homocysteine catabolic process GO:0043418 9.26 MTRR CBS
9 cobalamin metabolic process GO:0009235 9.17 TCN2 MTRR MTR MMADHC MMACHC LMBRD1
10 homocysteine metabolic process GO:0050667 9.13 MTRR MTHFR CBS

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 MTRR MTHFR
2 modified amino acid binding GO:0072341 9.16 MTHFR CBS
3 FAD binding GO:0071949 9.13 MTRR MTHFR MMACHC
4 cobalamin binding GO:0031419 8.92 TCN2 MTR MMACHC LMBRD1
Sources

Sources for Homocystinuria

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 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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