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MCID: HMC002
MIFTS: 53

Homocystinuria

Categories: 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 74 52 25 36 29 54 6 43 15 71
Cystathionine Beta Synthase Deficiency 12 25
Homocysteinemia 25 71
Cystathionine Beta-Synthase Deficiency Disease 71
Cystathionine Synthase Deficiency 12
Cbs Deficiency 12

Classifications:

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


External Ids:

Disease Ontology 12 DOID:9263
KEGG 36 H00183
MeSH 43 D006712
NCIt 49 C84765
SNOMED-CT 67 11282001
ICD10 32 E72.11
UMLS 71 C0019880 C0751202 C3495426
Sources

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 MMACHC (Metabolism Of Cobalamin Associated C), and among its related pathways/superpathways are Glycine, serine and threonine metabolism and Cysteine and methionine metabolism. The drugs leucovorin and Methylcobalamin have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and bone, and related phenotypes are growth/size/body region and homeostasis/metabolism

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 : 52 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 : 36 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 : 74 Homocystinuria or HCU 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 407)
# Related Disease Score Top Affiliating Genes
1 methylmalonic acidemia with homocystinuria 35.1 MMADHC MMACHC ABCD4
2 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 35.1 MTR MTHFR
3 methylmalonic aciduria and homocystinuria, cblc type 34.8 MTR MMUT MMADHC MMACHC CBS
4 methylmalonic aciduria and homocystinuria type cblg 34.3 MTRR MTR
5 methylmalonic aciduria and homocystinuria type cble 34.3 MTRR MTR
6 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 33.0 MMUT MMACHC
7 glycine n-methyltransferase deficiency 32.9 MTHFR MAT1A CBS BHMT
8 hypermethioninemia 32.8 MAT1A CBS BHMT
9 methylmalonic aciduria, cblb type 32.6 TCN2 OTC MTR MMUT MMACHC
10 methylmalonic aciduria, cbla type 32.5 MMUT MMADHC
11 homocysteinemia 32.4 THBD SERPINC1 MTRR MTR MTHFR MMACHC
12 ectopia lentis 2, isolated, autosomal recessive 32.3 SUOX FBN1
13 methylmalonic acidemia 32.0 TCN2 OTC MTRR MTR MTHFR MMUT
14 isolated ectopia lentis 31.6 SUOX FBN1 CBS
15 isolated methylmalonic acidemia 31.5 MMUT MMADHC
16 thrombosis 31.4 THBD SERPINC1 MTHFR F5
17 disorders of intracellular cobalamin metabolism 31.4 MTRR MTR MMADHC MMACHC LMBRD1 ABCD4
18 thrombophilia due to thrombin defect 31.3 THBD SERPINC1 MTHFR F5
19 marfan syndrome 31.2 MTRR MTR MTHFR FBN1 CBS
20 pulmonary embolism 31.1 THBD SERPINC1 MTHFR F5
21 lens subluxation 31.1 SUOX MTHFR FBN1 CBS
22 sagittal sinus thrombosis 31.0 SERPINC1 F5
23 hemolytic-uremic syndrome 31.0 THBD SERPINC1 MMACHC
24 megaloblastic anemia 31.0 TCN2 MTRR MTR MTHFR MMADHC LMBRD1
25 intracranial thrombosis 30.9 SERPINC1 MTHFR F5
26 cerebral sinovenous thrombosis 30.9 MTHFR F5
27 thrombophilia 30.9 THBD SERPINC1 MTHFR F5
28 vascular disease 30.8 THBD SERPINC1 MTRR MTR MTHFR F5
29 phenylketonuria 30.8 OTC MTRR MTR MTHFR BTD
30 stroke, ischemic 30.8 THBD SERPINC1 MTHFR FBN1 F5
31 amaurosis fugax 30.8 MTHFR F5
32 cerebrovascular disease 30.8 THBD MTR MTHFR F5
33 pyridoxine deficiency anemia 30.8 CBS CBLIF
34 methionine adenosyltransferase i/iii deficiency 30.7 MAT1A CBS
35 thrombophlebitis 30.7 SERPINC1 MTHFR F5
36 peripheral vascular disease 30.7 THBD SERPINC1 MTHFR F5
37 livedoid vasculitis 30.7 SERPINC1 MTHFR
38 retinal artery occlusion 30.7 SERPINC1 MTHFR F5
39 branch retinal artery occlusion 30.6 SERPINC1 MTHFR
40 neural tube defects, folate-sensitive 30.6 MTRR MTR MTHFR
41 thrombophilia due to activated protein c resistance 30.6 THBD SERPINC1 MTHFR F5
42 central retinal artery occlusion 30.5 SERPINC1 MTHFR
43 glossitis 30.5 TCN2 LMBRD1 CBLIF
44 portal vein thrombosis 30.5 SERPINC1 MTHFR F5
45 legg-calve-perthes disease 30.5 THBD SERPINC1 F5
46 choline deficiency disease 30.4 MTR MTHFR BHMT
47 transcobalamin ii deficiency 30.4 TCN2 MMADHC LMBRD1 CBLIF
48 eclampsia 30.4 THBD SERPINC1 MTHFR
49 down syndrome 30.4 MTRR MTR MTHFR CBS
50 macrocytic anemia 30.4 TCN2 MTR CBLIF

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

MGI Mouse Phenotypes related to Homocystinuria:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.1 BHMT BTD CBLIF F5 FBN1 LMBRD1
2 homeostasis/metabolism MP:0005376 10.1 BHMT BTD CBLIF F5 FBN1 MAT1A
3 integument MP:0010771 9.76 ABCD4 BTD F5 FBN1 MMACHC MTHFR
4 liver/biliary system MP:0005370 9.61 BHMT CBLIF F5 MAT1A MMUT MTHFR
5 renal/urinary system MP:0005367 9.23 BHMT BTD FBN1 MMACHC MMUT OTC
Sources

Drugs & Therapeutics for Homocystinuria

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

(show top 50) (show all 52)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved Phase 3 58-05-9 6006 143
2
Methylcobalamin Approved, Investigational Phase 3 13422-55-4
3
Hydroxocobalamin Approved Phase 3 13422-51-0 15589840 11953898
4
Enalapril Approved, Vet_approved Phase 2, Phase 3 75847-73-3 40466924 5362032
5
Enalaprilat Approved Phase 2, Phase 3 76420-72-9 6917719
6
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
7
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
8
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
9
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
10
Cobalamin Experimental Phase 3 13408-78-1 6857388
11
Maleic acid Experimental, Investigational Phase 2, Phase 3 110-17-8, 110-16-7 444972
12 Hypolipidemic Agents Phase 3
13 Lipid Regulating Agents Phase 3
14 Gastrointestinal Agents Phase 3
15 Antimetabolites Phase 3
16 Vitamins Phase 3
17 Vitamin B Complex Phase 3
18 Vitamin B 12 Phase 3
19 Folate Phase 3
20 Vitamin B12 Phase 3
21 Vitamin B9 Phase 3
22 Trace Elements Phase 2, Phase 3
23 Micronutrients Phase 2, Phase 3
24 Hematinics Phase 2, Phase 3
25 Nutrients Phase 2, Phase 3
26 Vitamin B 6 Phase 3
27 Antihypertensive Agents Phase 2, Phase 3
28
protease inhibitors Phase 2, Phase 3
29 Angiotensin-Converting Enzyme Inhibitors Phase 2, Phase 3
30 HIV Protease Inhibitors Phase 2, Phase 3
31
Pyridoxal Experimental, Nutraceutical Phase 3 66-72-8 1050
32
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
33
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
34
Taurine Approved, Nutraceutical Phase 1, Phase 2 107-35-7 1123
35
Cysteine Approved, Nutraceutical Phase 1, Phase 2 52-90-4 5862
36 Pharmaceutical Solutions Phase 1, Phase 2
37 Analgesics, Non-Narcotic Phase 1, Phase 2
38 Respiratory System Agents Phase 1, Phase 2
39 Anti-Infective Agents Phase 1, Phase 2
40 Antidotes Phase 1, Phase 2
41 Antioxidants Phase 1, Phase 2
42 Analgesics Phase 1, Phase 2
43 Antiviral Agents Phase 1, Phase 2
44 Liver Extracts Phase 1, Phase 2
45 Antipyretics Phase 1, Phase 2
46 Protective Agents Phase 1, Phase 2
47 Expectorants Phase 1, Phase 2
48 N-monoacetylcystine Phase 1, Phase 2
49
Temozolomide Approved, Investigational Phase 1 85622-93-1 5394
50
Methionine Approved, Nutraceutical Phase 1 63-68-3 6137

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 Assessment of Vascular and Metabolic Changes in Post-menopausal Women With Type 2 Diabetes Mellitus Unknown status NCT03273738
14 Study of Homocysteine Metabolism in Homocystinuria Completed NCT00004356
15 Effect of Cerefolin®/CerefolinNAC® on Biomarker Measurements in Patients With Mild Cognitive Impairment, Alzheimer's Disease and Related Disorders Completed NCT01745198
16 Normal Values of Oxidative Stress, Taurine, and Related Markers Completed NCT02649777
17 Human Lipoprotein Pathophysiology - Subproject: Genetics of Familial Combined Hyperlipidemia Completed NCT00005313
18 The Role of Susceptibility to Thrombosis in the Pseudotumor Cerebri of Nephropathic Cystinosis: A Case-Control Study Completed NCT00071903
19 Investigating the Effects of Exercises in Addition to Dynamic Compression Brace in Patients With Pectus Carinatum: a Single Blinded Randomized Controlled Trial Completed NCT03559244
20 A Multicenter, Observational, Prospective, Natural History Study of Homocystinuria Due to Cystathionine Beta-synthase Deficiency in Pediatric and Adult Patients Recruiting NCT02998710
21 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
22 Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) and Related Disorders Recruiting NCT00078078
23 Effect of Adding Folic Acid on Lipid Parameters in Population With Dyslipidemias Not yet recruiting NCT03674333

Search NIH Clinical Center for Homocystinuria

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Betaine
Betaine Hydrochloride

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:

40
Eye, Testes, Bone, Endothelial, Liver, Heart, Brain
Sources

Publications for Homocystinuria

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Articles related to Homocystinuria:

(show top 50) (show all 2116)
# Title Authors PMID Year
1
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options. 61 52
29094226 2018
2
Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: characterization of two novel mutations in compound heterozygous patients. 54 61
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. 54 61
20120036 2010
4
Diet in dermatology: revisited. 54 61
20228538 2010
5
Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70. 61 54
20066033 2010
6
A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency. 54 61
19819175 2010
7
Functional consequences of homocysteinylation of the elastic fiber proteins fibrillin-1 and tropoelastin. 61 54
19889633 2010
8
Production of synthetic methionine-free and synthetic methionine-limited alpha casein: protein foodstuff for patients with homocystinuria due to cystathionine beta-synthase deficiency. 61 54
20033268 2010
9
Heme regulation of human cystathionine beta-synthase activity: insights from fluorescence and Raman spectroscopy. 54 61
19722721 2009
10
[Updating neonatal neurometabolic screening]. 54 61
19240000 2009
11
Inherited metabolic disorders and cerebral infarction. 54 61
18986243 2008
12
Methylenetetrahydrofolate reductase deficiency (homocystinuria type II) as a rare cause of rapidly progressive tetraspasticity and psychosis in a previously healthy adult. 61 54
18854913 2008
13
[Stroke and iridodonesis revealing a homocystinuria caused by a compound heterozygous mutation of cystathionine beta-synthase]. 54 61
18805305 2008
14
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]. 54 61
19080473 2008
15
Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice. 61 54
18454451 2008
16
Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria. 61 54
18658082 2008
17
Homocystinuria due to cystathionine beta synthase deficiency. 54 61
18797062 2008
18
[A rare inborn error of intracellular processing of cobalamine presenting with microcephalus and megaloblastic anemia: a report of 3 children]. 54 61
18050048 2007
19
[Cystathionine betasynthase and MTHFR deficiencies in adults]. 61 54
18033026 2007
20
Polymorphic background of methionine synthase reductase modulates the phenotype of a disease-causing mutation. 61 54
17554763 2007
21
Cerebral infarctions manifesting as neonatal seizure. 61 54
17903413 2007
22
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report. 61 54
17347912 2007
23
Intermediate hyperhomocysteinaemia and compound heterozygosity for the common variant c.677C>T and a MTHFR gene mutation. 61 54
17457696 2007
24
DNA methylation status is not impaired in treated cystathionine beta-synthase (CBS) deficient patients. 61 54
17336565 2007
25
Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion. 54 61
17072863 2007
26
[Molecular genetics of MTHFR: polymorphisms are not all benign]. 61 54
17349292 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. 54 61
16497089 2007
28
Recombinant adeno-associated virus mediated gene transfer in a mouse model for homocystinuria. 54 61
17202841 2006
29
[Orientation of mental retardation from neurometabolic diseases]. 61 54
17061190 2006
30
Newborn screening fact sheets. 54 61
16950973 2006
31
Acute stroke in relation to homocysteine and methylenetetrahydrofolate reductase gene polymorphisms. 54 61
16629766 2006
32
Comprehensive cost-utility analysis of newborn screening strategies. 54 61
16735255 2006
33
Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria. 61 54
16307898 2006
34
High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia. 54 61
16470595 2006
35
Fibrillin-1 misfolding and disease. 54 61
16677079 2006
36
Molecular analysis of homocystinuria in Brazilian patients. 61 54
15993874 2005
37
Cystathionine beta-synthase T833C/844INS68 polymorphism: a family-based study on mentally retarded children. 61 54
16375773 2005
38
Cystathionine beta-synthase is enriched in the brains of Down's patients. 54 61
16274669 2005
39
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]. 54 61
16398167 2005
40
CBS domains: structure, function, and pathology in human proteins. 61 54
16275737 2005
41
Cystathionine beta-synthase, a key enzyme for homocysteine metabolism, is preferentially expressed in the radial glia/astrocyte lineage of developing mouse CNS. 54 61
16160063 2005
42
Mapping peptides correlated with transmission of intrasteric inhibition and allosteric activation in human cystathionine beta-synthase. 61 54
16245937 2005
43
Modification of the structure and function of fibrillin-1 by homocysteine suggests a potential pathogenetic mechanism in homocystinuria. 54 61
16096271 2005
44
The role of cystathionine beta-synthase in homocysteine metabolism. 61 54
15890029 2005
45
cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression. 61 54
15714522 2005
46
Molecular effects of homocysteine on cbEGF domain structure: insights into the pathogenesis of homocystinuria. 61 54
15713466 2005
47
Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria. 61 54
16205833 2005
48
Folate-induced reversal of leukoencephalopathy and intellectual decline in methylene-tetrahydrofolate reductase deficiency: variable response in siblings. 61 54
15686290 2005
49
Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency. 61 54
15217352 2004
50
Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria. 61 54
15146473 2004
Sources

Variations for Homocystinuria

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ClinVar genetic disease variations for Homocystinuria:

6 (show all 24) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CBS NM_000071.2(CBS):c.494G>A (p.Cys165Tyr)SNV Pathogenic 495531 rs1347651454 21:44485763-44485763 21:43065653-43065653
2 CBS NM_000071.2(CBS):c.526G>A (p.Glu176Lys)SNV Pathogenic 633144 rs762065361 21:44485731-44485731 21:43065621-43065621
3 CBS NM_000071.2(CBS):c.209+1G>ASNV Pathogenic 632738 rs751464024 21:44492094-44492094 21:43071984-43071984
4 CBS NM_000071.3(CBS):c.919G>A (p.Gly307Ser)SNV Pathogenic 117 rs121964962 21:44483098-44483098 21:43062988-43062988
5 CBS NM_000071.3(CBS):c.833T>C (p.Ile278Thr)SNV Pathogenic 120 rs5742905 21:44483184-44483184 21:43063074-43063074
6 CBS NM_000071.2(CBS):c.1224-2A>CSNV Pathogenic 128 rs375846341 21:44479080-44479080 21:43058970-43058970
7 CBS NM_000071.2(CBS):c.572C>T (p.Thr191Met)SNV Pathogenic 132 rs121964973 21:44485591-44485591 21:43065481-43065481
8 CBS NM_000071.2(CBS):c.700G>A (p.Asp234Asn)SNV Pathogenic 212852 rs773734233 21:44485349-44485349 21:43065239-43065239
9 CBS NM_000071.2(CBS):c.325T>C (p.Cys109Arg)SNV Pathogenic 212878 rs778220779 21:44486479-44486479 21:43066369-43066369
10 CBS NM_000071.2(CBS):c.1221del (p.Trp408fs)deletion Pathogenic/Likely pathogenic 495530 rs1361324844 21:44479338-44479338 21:43059228-43059228
11 CBS NM_000071.2(CBS):c.959T>C (p.Val320Ala)SNV Pathogenic/Likely pathogenic 371028 rs781567152 21:44482501-44482501 21:43062391-43062391
12 CBS NM_000071.2(CBS):c.667-14_667-7deldeletion Pathogenic/Likely pathogenic 188911 rs764160782 21:44485389-44485396 21:43065279-43065286
13 MMACHC NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)SNV Pathogenic/Likely pathogenic 203828 rs140522266 1:45974478-45974478 1:45508806-45508806
14 MTR NM_000254.2(MTR):c.3518C>T (p.Pro1173Leu)SNV Pathogenic/Likely pathogenic 14278 rs121913578 1:237058770-237058770 1:236895470-236895470
15 CBS NM_000071.2(CBS):c.1039G>A (p.Gly347Ser)SNV Pathogenic/Likely pathogenic 188801 rs771298943 21:44482421-44482421 21:43062311-43062311
16 CBS NM_000071.2(CBS):c.1330G>A (p.Asp444Asn)SNV Pathogenic/Likely pathogenic 126 rs28934891 21:44478972-44478972 21:43058862-43058862
17 CBS NM_000071.2(CBS):c.341C>T (p.Ala114Val)SNV Pathogenic/Likely pathogenic 119 rs121964964 21:44486463-44486463 21:43066353-43066353
18 MTR NM_001291940.2(MTR):c.-724G>CSNV Likely pathogenic 812985 1:236972049-236972049 1:236808749-236808749
19 CBS NM_000071.2(CBS):c.770C>T (p.Thr257Met)SNV Conflicting interpretations of pathogenicity 188927 rs758236584 21:44484068-44484068 21:43063958-43063958
20 CBS NM_000071.2(CBS):c.457G>A (p.Gly153Arg)SNV Conflicting interpretations of pathogenicity 212846 rs745704046 21:44485800-44485800 21:43065690-43065690
21 CBS NM_000071.2(CBS):c.-50dupduplication Uncertain significance 340092 rs886057101 21:44493416-44493417 21:43073306-43073307
22 CBS NM_001178008.2(CBS):c.1194_1196GGA[2] (p.Glu400del)short repeat Uncertain significance 340082 rs745438246 21:44479357-44479359 21:43059247-43059249
23 CBS NM_001178009.3(CBS):c.18+37_18+39deldeletion Uncertain significance 340079 rs886057097 21:44473933-44473935 21:43053823-43053825
24 CBS NM_001178009.3(CBS):c.18+85_18+89delshort repeat Benign 340077 rs71872941 21:44473883-44473887 21:43053773-43053777
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:

36
# 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 13)
# Super pathways Score Top Affiliating Genes
1
Metabolism 65
Show member pathways
 13.99 TCN2 SUOX OTC MTRR MTR MTHFR
2
Metabolism of water-soluble vitamins and cofactors 65
Show member pathways
 12.3 TCN2 MTRR MTR MTHFR MMUT MMADHC
3
Carbon metabolism 36
Show member pathways
 12.26 OTC MTR MTHFR MMUT MAT1A CBS
4
Folate Metabolism 1
Show member pathways
 12.19 TCN2 MTRR MTR MTHFR MMUT MAT1A
5
One carbon pool by folate 36
Show member pathways
 12.02 TCN2 MTRR MTR MTHFR MAT1A CBS
6
Sulfur amino acid metabolism 65
Show member pathways
 11.98 SUOX MTRR MTR MAT1A CBS BHMT
7
Amino Acid metabolism 1
11.74 OTC MMUT CBS BHMT
8
Diseases of metabolism 65
Show member pathways
 11.67 TCN2 MTRR MTR MMUT MMADHC MMACHC
9
Vitamin digestion and absorption 36
11.15 TCN2 MMACHC LMBRD1 CBLIF BTD
10
superpathway of methionine degradation 1
Show member pathways
 11.07 SUOX MAT1A CBS
11
Cobalamin (Cbl, vitamin B12) transport and metabolism 65
10.6 TCN2 MTRR MTR MMUT MMADHC MMACHC
12
Folate-Alcohol and Cancer Pathway 1
10.43 MTHFR CBS
13
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE 65
Show member pathways
 10.11 MTRR MTR
Sources

GO Terms for Homocystinuria

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 methylation GO:0032259 9.81 MTRR MTR MAT1A BHMT
2 cellular amino acid biosynthetic process GO:0008652 9.67 OTC MTRR MTR CBS
3 hemostasis GO:0007599 9.63 THBD SERPINC1 F5
4 methionine biosynthetic process GO:0009086 9.56 MTRR MTR MTHFR BHMT
5 folic acid metabolic process GO:0046655 9.52 MTRR MTHFR
6 cobalamin transport GO:0015889 9.5 TCN2 LMBRD1 CBLIF
7 cobalt ion transport GO:0006824 9.49 TCN2 CBLIF
8 methionine metabolic process GO:0006555 9.48 MTRR MTHFR
9 homocysteine metabolic process GO:0050667 9.46 MTRR MTHFR MMUT CBS
10 S-adenosylmethionine metabolic process GO:0046500 9.43 MTHFR BHMT
11 homocysteine catabolic process GO:0043418 9.4 MTRR CBS
12 cobalamin metabolic process GO:0009235 9.28 TCN2 MTRR MTR MMUT MMADHC MMACHC
13 sulfur amino acid metabolic process GO:0000096 9.26 MTRR MTR MAT1A BHMT

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

# Name GO ID Score Top Affiliating Genes
1 FAD binding GO:0071949 9.43 MTRR MTHFR MMACHC
2 betaine-homocysteine S-methyltransferase activity GO:0047150 9.16 MTR BHMT
3 modified amino acid binding GO:0072341 9.13 MTHFR MMUT CBS
4 cobalamin binding GO:0031419 9.1 TCN2 MTR MMUT MMACHC LMBRD1 CBLIF
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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