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MCID: HMC002
MIFTS: 54

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 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 Genetic diseases
See all MalaCards categories (disease lists)


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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 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 Enalaprilat have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and heart, and related phenotypes are homeostasis/metabolism and growth/size/body region

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 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 35.0 MMADHC MMACHC
2 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 34.8 MTR MTHFR
3 methylmalonic aciduria and homocystinuria, cblc type 34.3 MTR MMUT MMADHC MMACHC CBS
4 methylmalonic aciduria and homocystinuria type cblg 34.1 MTRR MTR
5 methylmalonic aciduria and homocystinuria type cble 34.1 MTRR MTR
6 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 32.8 MMUT MMACHC
7 hypermethioninemia 32.2 MAT1A CBS BHMT
8 glycine n-methyltransferase deficiency 32.1 MTHFR MAT1A CBS BHMT
9 methylmalonic aciduria, cbla type 32.1 MMUT MMADHC
10 methylmalonic aciduria, cblb type 32.0 TCN2 OTC MTR MMUT
11 ectopia lentis 2, isolated, autosomal recessive 31.6 SUOX FBN1
12 isolated methylmalonic acidemia 31.3 MMUT MMADHC
13 homocysteinemia 31.0 THBD SERPINC1 MTRR MTR MTHFR MMACHC
14 thrombosis 30.8 THBD SERPINC1 MTHFR F5
15 isolated ectopia lentis 30.8 SUOX FBN1 CBS
16 disorders of intracellular cobalamin metabolism 30.8 MTRR MTR MMADHC MMACHC LMBRD1 ABCD4
17 sagittal sinus thrombosis 30.7 SERPINC1 F5
18 thrombophilia due to thrombin defect 30.7 THBD SERPINC1 MTHFR F5
19 marfan syndrome 30.7 MTRR MTR MTHFR FBN1 CBS
20 pulmonary embolism 30.6 THBD SERPINC1 MTHFR F5
21 cerebral sinovenous thrombosis 30.6 MTHFR F5
22 amaurosis fugax 30.5 MTHFR F5
23 cerebrovascular disease 30.5 THBD MTR MTHFR F5
24 pyridoxine deficiency anemia 30.5 CBS CBLIF
25 methylmalonic acidemia 30.4 TCN2 OTC MTRR MTR MTHFR MMUT
26 marantic endocarditis 30.4 SERPINC1 MTHFR
27 methionine adenosyltransferase i/iii deficiency 30.4 MAT1A CBS
28 livedoid vasculitis 30.4 SERPINC1 MTHFR
29 intracranial thrombosis 30.4 SERPINC1 MTHFR F5
30 branch retinal artery occlusion 30.4 SERPINC1 MTHFR
31 neural tube defects, folate-sensitive 30.3 MTRR MTR MTHFR
32 thrombophlebitis 30.3 SERPINC1 MTHFR F5
33 retinal artery occlusion 30.3 SERPINC1 MTHFR F5
34 thrombophilia 30.3 THBD SERPINC1 MTHFR F5
35 lens subluxation 30.1 SUOX MTHFR FBN1 CBS
36 stroke, ischemic 30.1 THBD SERPINC1 MTHFR FBN1 F5
37 peripheral vascular disease 30.1 THBD SERPINC1 F5
38 megaloblastic anemia 30.1 TCN2 MTRR MTR MTHFR MMADHC LMBRD1
39 glossitis 30.1 TCN2 LMBRD1 CBLIF
40 portal vein thrombosis 30.0 SERPINC1 MTHFR F5
41 eclampsia 30.0 THBD SERPINC1 MTHFR
42 thrombophilia due to activated protein c resistance 30.0 THBD SERPINC1 MTHFR F5
43 down syndrome 30.0 MTRR MTR MTHFR CBS
44 placenta disease 29.9 SERPINC1 MTHFR F5
45 choline deficiency disease 29.9 MTR MTHFR BHMT
46 transcobalamin ii deficiency 29.9 TCN2 MMADHC LMBRD1 CBLIF
47 propionic acidemia 29.8 OTC MMUT MMADHC LMBRD1
48 phenylketonuria 29.8 OTC MTRR MTR MTHFR BTD
49 legg-calve-perthes disease 29.8 THBD SERPINC1 MTHFR F5
50 atrial heart septal defect 29.8 SERPINC1 MTHFR FBN1

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 homeostasis/metabolism MP:0005376 10.13 BHMT BTD CBLIF F5 FBN1 LMBRD1
2 growth/size/body region MP:0005378 10.1 BHMT BTD CBLIF F5 FBN1 LMBRD1
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 54)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylcobalamin Approved, Investigational Phase 3 13422-55-4
2
Enalaprilat Approved Phase 2, Phase 3 76420-72-9 6917719
3
Enalapril Approved, Vet_approved Phase 2, Phase 3 75847-73-3 5362032 40466924
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 Hypolipidemic Agents Phase 3
8 Gastrointestinal Agents Phase 3
9 Lipid Regulating 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
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
18
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
19
Taurine Approved, Nutraceutical Phase 1, Phase 2 107-35-7 1123
20
Cysteine Approved, Nutraceutical Phase 1, Phase 2 52-90-4 5862
21 Ubiquinone Phase 2
22 Pharmaceutical Solutions Phase 1, Phase 2
23 Liver Extracts Phase 1, Phase 2
24 Respiratory System Agents Phase 1, Phase 2
25 Analgesics, Non-Narcotic Phase 1, Phase 2
26 Anti-Infective Agents Phase 1, Phase 2
27 Antipyretics Phase 1, Phase 2
28 Free Radical Scavengers Phase 1, Phase 2
29 N-monoacetylcystine Phase 1, Phase 2
30 Antioxidants Phase 1, Phase 2
31 Antiviral Agents Phase 1, Phase 2
32 Protective Agents Phase 1, Phase 2
33 Analgesics Phase 1, Phase 2
34 Antidotes Phase 1, Phase 2
35 Expectorants Phase 1, Phase 2
36
Temozolomide Approved, Investigational Phase 1 85622-93-1 5394
37
Methionine Approved, Nutraceutical Phase 1 63-68-3 6137
38 Alkylating Agents Phase 1
39
Zoledronic Acid Approved 118072-93-8 68740
40
leucovorin Approved 58-05-9 6006 143
41
Hydroxocobalamin Approved 13422-51-0 11953898 15589840
42
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
43
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
44
Cobalamin Experimental 13408-78-1 6857388
45 Vitamins
46 Trace Elements
47 Micronutrients
48 Vitamin B 12
49 Nutrients
50 Vitamin B Complex

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

Publications for Homocystinuria

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Articles related to Homocystinuria:

(show top 50) (show all 2093)
# 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
A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency. 54 61
19819175 2010
6
Functional consequences of homocysteinylation of the elastic fiber proteins fibrillin-1 and tropoelastin. 54 61
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. 54 61
20033268 2010
8
Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70. 54 61
20066033 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. 54 61
18854913 2008
13
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]. 54 61
19080473 2008
14
Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice. 54 61
18454451 2008
15
[Stroke and iridodonesis revealing a homocystinuria caused by a compound heterozygous mutation of cystathionine beta-synthase]. 54 61
18805305 2008
16
Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria. 54 61
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]. 54 61
18033026 2007
20
Polymorphic background of methionine synthase reductase modulates the phenotype of a disease-causing mutation. 54 61
17554763 2007
21
Cerebral infarctions manifesting as neonatal seizure. 54 61
17903413 2007
22
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report. 54 61
17347912 2007
23
Intermediate hyperhomocysteinaemia and compound heterozygosity for the common variant c.677C>T and a MTHFR gene mutation. 54 61
17457696 2007
24
DNA methylation status is not impaired in treated cystathionine beta-synthase (CBS) deficient patients. 54 61
17336565 2007
25
[Molecular genetics of MTHFR: polymorphisms are not all benign]. 54 61
17349292 2007
26
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
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]. 54 61
17061190 2006
30
Newborn screening fact sheets. 54 61
16950973 2006
31
Comprehensive cost-utility analysis of newborn screening strategies. 54 61
16735255 2006
32
Acute stroke in relation to homocysteine and methylenetetrahydrofolate reductase gene polymorphisms. 54 61
16629766 2006
33
Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria. 54 61
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
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]. 54 61
16398167 2005
37
Cystathionine beta-synthase is enriched in the brains of Down's patients. 54 61
16274669 2005
38
CBS domains: structure, function, and pathology in human proteins. 54 61
16275737 2005
39
Molecular analysis of homocystinuria in Brazilian patients. 54 61
15993874 2005
40
Cystathionine beta-synthase T833C/844INS68 polymorphism: a family-based study on mentally retarded children. 54 61
16375773 2005
41
Mapping peptides correlated with transmission of intrasteric inhibition and allosteric activation in human cystathionine beta-synthase. 54 61
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. 54 61
16160063 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. 54 61
15890029 2005
45
cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression. 54 61
15714522 2005
46
Molecular effects of homocysteine on cbEGF domain structure: insights into the pathogenesis of homocystinuria. 54 61
15713466 2005
47
Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria. 54 61
16205833 2005
48
Folate-induced reversal of leukoencephalopathy and intellectual decline in methylene-tetrahydrofolate reductase deficiency: variable response in siblings. 54 61
15686290 2005
49
Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency. 54 61
15217352 2004
50
Birth prevalence of homocystinuria. 54 61
15192637 2004
Sources

Variations for Homocystinuria

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ClinVar genetic disease variations for Homocystinuria:

6 (show top 50) (show all 58) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CBS NM_000071.2(CBS):c.700G>A (p.Asp234Asn)SNV Pathogenic 212852 rs773734233 21:44485349-44485349 21:43065239-43065239
2 CBS NM_000071.2(CBS):c.325T>C (p.Cys109Arg)SNV Pathogenic 212878 rs778220779 21:44486479-44486479 21:43066369-43066369
3 CBS NM_000071.2(CBS):c.919G>A (p.Gly307Ser)SNV Pathogenic 117 rs121964962 21:44483098-44483098 21:43062988-43062988
4 CBS NM_000071.2(CBS):c.1224-2A>CSNV Pathogenic 128 rs375846341 21:44479080-44479080 21:43058970-43058970
5 CBS NM_000071.2(CBS):c.572C>T (p.Thr191Met)SNV Pathogenic 132 rs121964973 21:44485591-44485591 21:43065481-43065481
6 CBS NM_000071.2(CBS):c.833T>C (p.Ile278Thr)SNV Pathogenic 120 rs5742905 21:44483184-44483184 21:43063074-43063074
7 CBS NM_000071.2(CBS):c.494G>A (p.Cys165Tyr)SNV Pathogenic 495531 rs1347651454 21:44485763-44485763 21:43065653-43065653
8 CBS NM_000071.2(CBS):c.526G>A (p.Glu176Lys)SNV Pathogenic 633144 rs762065361 21:44485731-44485731 21:43065621-43065621
9 CBS NM_000071.2(CBS):c.209+1G>ASNV Pathogenic 632738 rs751464024 21:44492094-44492094 21:43071984-43071984
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.1330G>A (p.Asp444Asn)SNV Pathogenic/Likely pathogenic 126 rs28934891 21:44478972-44478972 21:43058862-43058862
12 CBS NM_000071.2(CBS):c.341C>T (p.Ala114Val)SNV Pathogenic/Likely pathogenic 119 rs121964964 21:44486463-44486463 21:43066353-43066353
13 CBS NM_000071.2(CBS):c.1039G>A (p.Gly347Ser)SNV Pathogenic/Likely pathogenic 188801 rs771298943 21:44482421-44482421 21:43062311-43062311
14 CBS NM_000071.2(CBS):c.959T>C (p.Val320Ala)SNV Likely pathogenic 371028 rs781567152 21:44482501-44482501 21:43062391-43062391
15 CBS NM_000071.2(CBS):c.1359-14C>TSNV Conflicting interpretations of pathogenicity 212832 rs115185587 21:44478377-44478377 21:43058267-43058267
16 CBS NM_000071.2(CBS):c.-85+10G>CSNV Conflicting interpretations of pathogenicity 340093 rs886057102 21:44495870-44495870 21:43075760-43075760
17 CBS NM_000071.2(CBS):c.924C>T (p.Tyr308=)SNV Conflicting interpretations of pathogenicity 340084 rs149809170 21:44483093-44483093 21:43062983-43062983
18 CBS NM_000071.2(CBS):c.770C>T (p.Thr257Met)SNV Conflicting interpretations of pathogenicity 188927 rs758236584 21:44484068-44484068 21:43063958-43063958
19 CBS NM_000071.2(CBS):c.667-14_667-7deldeletion Conflicting interpretations of pathogenicity 188911 rs764160782 21:44485389-44485396 21:43065279-43065286
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.531+11G>ASNV Conflicting interpretations of pathogenicity 136666 rs186114513 21:44485715-44485715 21:43065605-43065605
22 CBS NM_000071.2(CBS):c.636C>T (p.Asn212=)SNV Conflicting interpretations of pathogenicity 136668 rs2298758 21:44485527-44485527 21:43065417-43065417
23 CBS NM_000071.2(CBS):c.829-13G>ASNV Conflicting interpretations of pathogenicity 136670 rs201106576 21:44483201-44483201 21:43063091-43063091
24 CBS NM_000071.2(CBS):c.829-12C>TSNV Conflicting interpretations of pathogenicity 136671 rs75616587 21:44483200-44483200 21:43063090-43063090
25 CBS NM_000071.2(CBS):c.954+8G>ASNV Conflicting interpretations of pathogenicity 136672 rs76292057 21:44483055-44483055 21:43062945-43062945
26 CBS NM_000071.2(CBS):c.*540G>ASNV Conflicting interpretations of pathogenicity 235768 rs111386779 21:44473450-44473450 21:43053340-43053340
27 CBS NM_000071.2(CBS):c.894G>A (p.Gln298=)SNV Conflicting interpretations of pathogenicity 236939 rs370514077 21:44483123-44483123 21:43063013-43063013
28 CBS NM_000071.2(CBS):c.1161C>T (p.Ser387=)SNV Conflicting interpretations of pathogenicity 263900 rs149280976 21:44479398-44479398 21:43059288-43059288
29 CBS NM_000071.2(CBS):c.786G>A (p.Thr262=)SNV Conflicting interpretations of pathogenicity 264505 rs551782391 21:44484052-44484052 21:43063942-43063942
30 CBS NM_000071.2(CBS):c.612G>T (p.Val204=)SNV Conflicting interpretations of pathogenicity 340086 rs539670390 21:44485551-44485551 21:43065441-43065441
31 CBS NM_000071.2(CBS):c.600G>A (p.Pro200=)SNV Conflicting interpretations of pathogenicity 340087 rs181472622 21:44485563-44485563 21:43065453-43065453
32 CBS NM_000071.2(CBS):c.352G>A (p.Val118Met)SNV Uncertain significance 340090 rs763385546 21:44486452-44486452 21:43066342-43066342
33 CBS NM_000071.2(CBS):c.-136C>TSNV Uncertain significance 340094 rs543595103 21:44495931-44495931 21:43075821-43075821
34 CBS NM_000071.2(CBS):c.*592T>ASNV Uncertain significance 340070 rs866356348 21:44473398-44473398 21:43053288-43053288
35 CBS NM_001178008.2(CBS):c.1194_1196GGA[2] (p.Glu400del)short repeat Uncertain significance 340082 rs745438246 21:44479357-44479359 21:43059247-43059249
36 CBS NM_001178009.3(CBS):c.18+37_18+39deldeletion Uncertain significance 340079 rs886057097 21:44473933-44473935 21:43053823-43053825
37 CBS NM_000071.2(CBS):c.1146-12C>TSNV Uncertain significance 340083 rs199550738 21:44479425-44479425 21:43059315-43059315
38 CBS NM_000071.2(CBS):c.888G>A (p.Thr296=)SNV Uncertain significance 340085 rs769593715 21:44483129-44483129 21:43063019-43063019
39 CBS NM_000071.2(CBS):c.532G>A (p.Val178Met)SNV Uncertain significance 340088 rs370843514 21:44485631-44485631 21:43065521-43065521
40 CBS NM_000071.2(CBS):c.301C>G (p.Leu101Val)SNV Uncertain significance 340091 rs369644531 21:44488634-44488634 21:43068524-43068524
41 CBS NM_000071.2(CBS):c.-50dupduplication Uncertain significance 340092 rs886057101 21:44493416-44493417 21:43073306-43073307
42 CBS NM_000071.2(CBS):c.-160C>TSNV Uncertain significance 340095 rs112271970 21:44495955-44495955 21:43075845-43075845
43 CBS NM_000071.2(CBS):c.*566G>ASNV Uncertain significance 340071 rs111969522 21:44473424-44473424 21:43053314-43053314
44 CBS NM_000071.2(CBS):c.*472C>TSNV Uncertain significance 340074 rs886057096 21:44473518-44473518 21:43053408-43053408
45 CBS NM_000071.2(CBS):c.1453A>G (p.Lys485Glu)SNV Uncertain significance 340080 rs886057098 21:44478269-44478269 21:43058159-43058159
46 CBS NM_000071.2(CBS):c.1357G>T (p.Gly453Trp)SNV Uncertain significance 340081 rs886057099 21:44478945-44478945 21:43058835-43058835
47 CBS NM_000071.2(CBS):c.*299G>ASNV Likely benign 340076 rs12613 21:44473691-44473691 21:43053581-43053581
48 CBS NM_000071.2(CBS):c.*81G>ASNV Likely benign 340078 rs115406358 21:44473909-44473909 21:43053799-43053799
49 CBS NM_000071.2(CBS):c.*383C>TSNV Likely benign 340075 rs73372352 21:44473607-44473607 21:43053497-43053497
50 CBS NM_000071.2(CBS):c.1145+7C>TSNV Benign/Likely benign 136674 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:

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
 12.06 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
11.1 TCN2 MMACHC LMBRD1 CBLIF BTD
10
superpathway of methionine degradation 1
Show member pathways
 11.09 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 9.65 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 methionine metabolic process GO:0006555 9.49 MTRR MTHFR
8 S-adenosylmethionine metabolic process GO:0046500 9.46 MTHFR BHMT
9 homocysteine metabolic process GO:0050667 9.46 MTRR MTHFR MMUT CBS
10 cobalt ion transport GO:0006824 9.43 TCN2 CBLIF
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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