Homocysteinemia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: HMC014 MIFTS: 38	Homocysteinemia Categories: Rare diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Homocysteinemia

MalaCards integrated aliases for Homocysteinemia:

Name: Homocysteinemia ¹⁹ ⁵³ ⁵ ⁷¹ ⁷⁵

Hyperhomocysteinemia ⁷¹

Classifications:

MalaCards categories:
Global: Rare diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷¹ C0598608 C3495426

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Summaries for Homocysteinemia

GARD: ¹⁹ Hyperhomocysteinemia refers to above-normal concentrations of plasma/serum homocysteine. Plasma/serum homocysteine is the sum of the thiol-containing amino acid homocysteine and the homocysteinyl moiety of the disulfides homocystine and cysteine-homocysteine, whether free or bound to proteins (Malinow and Stampfer, 1994).Hyperhomocysteinemia in isolation may be associated with an increased risk of atherosclerosis and recurrent arterial and venous thrombosis usually in the third or fourth decade of life (review by Welch and Loscalzo, 1998).Homocysteinemia is also a feature of several inherited metabolic disorders, including homocystinuria (236200), due to mutation in the CBS gene (613381), and N(5,10)-methylenetetrahydrofolate reductase deficiency (236250), caused by mutation in the MTHFR gene (607093). Homocysteinemia/homocystinuria and megaloblastic anemia can result from defects in vitamin B12 (cobalamin; cbl) metabolism, which have been classified according to complementation groups of cells in vitro; see cblE (236270) and cblG (250940). See also the various forms of combined methylmalonic aciduria (MMA) and homocystinuria due to disorders of cobalamin: cblC (277400), cblD (277410), and cblF (277380).

MalaCards based summary: Homocysteinemia, also known as hyperhomocysteinemia, is related to methylmalonic aciduria and homocystinuria, cblx type and homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity. An important gene associated with Homocysteinemia is MTHFR (Methylenetetrahydrofolate Reductase), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and One-carbon metabolism and related pathways. The drugs Amlodipine and Hydrochlorothiazide have been mentioned in the context of this disorder. Affiliated tissues include endothelial, kidney and heart, and related phenotypes are Increased shRNA abundance and homeostasis/metabolism

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Related Diseases for Homocysteinemia

Diseases related to Homocysteinemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 235)

#	Related Disease	Score	Top Affiliating Genes
1	methylmalonic aciduria and homocystinuria, cblx type	32.2	MTR MTHFR
2	homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity	32.2	MTR MTHFR
3	homocystinuria	30.9	MTRR MTR MTHFR F5 CBS
4	hyperhomocysteinemia	30.3	MTRR MTR MTHFR F5 F2 CBS
5	methylmalonic aciduria and homocystinuria, cblc type	29.9	MTR MTHFR CBS
6	amaurosis fugax	29.8	MTHFR F5
7	neural tube defects, folate-sensitive	29.8	MTRR MTR MTHFR
8	methylmalonic acidemia	29.8	MTRR MTR MTHFR CBS
9	livedoid vasculitis	29.7	MTHFR F2
10	transient cerebral ischemia	29.6	MTHFR F2
11	pulmonary embolism	29.6	MTHFR F5 F2
12	factor viii deficiency	29.5	F5 F2
13	vitamin b12 deficiency	29.4	MTRR MTR MTHFR CBS
14	thrombophilia due to activated protein c resistance	29.4	MTHFR F5 F2
15	stroke, ischemic	29.4	MTHFR F5 F2 CBS
16	peripheral vascular disease	29.3	MTHFR F2 CBS
17	beta-thalassemia	29.3	MTHFR F5 F2
18	thrombophilia due to thrombin defect	29.2	MTHFR F5 F2 CBS
19	patent foramen ovale	29.0	MTHFR F5 F2 ELN
20	thrombosis	29.0	MTHFR F5 F2 CBS
21	down syndrome	28.9	MTRR MTR MTHFR CBS
22	thrombophilia	28.8	MTHFR F5 F2 CBS
23	cerebral palsy	28.7	MTHFR F5 F2 CBS
24	cerebrovascular disease	28.7	MTRR MTR MTHFR F5 F2 CBS
25	vascular disease	28.6	MTRR MTR MTHFR F5 F2 ELN
26	marfan syndrome	28.6	MTRR MTR MTHFR ELN CBS
27	cardiovascular system disease	28.6	MTRR MTR MTHFR ELN CBS
28	myocardial infarction	28.5	MTR MTHFR F5 F2 ELN CBS
29	neural tube defects	28.5	MTRR MTR MTHFR F2 CBS
30	lipoprotein quantitative trait locus	28.4	MTRR MTR MTHFR F2 ELN CBS
31	heart disease	28.4	MTR MTHFR F5 F2 ELN CBS
32	arteriosclerosis	10.2
33	homocystinuria due to cystathionine beta-synthase deficiency	10.2
34	abdominal obesity-metabolic syndrome 1	10.2
35	choline deficiency disease	10.1	MTR MTHFR
36	nondisjunction	10.1	MTRR MTHFR
37	chronic kidney disease	10.1
38	ophthalmia neonatorum	10.1	MTRR MTR
39	adult acute lymphocytic leukemia	10.1	MTR MTHFR
40	urethritis	10.1	MTRR MTR
41	pregnancy loss, recurrent 1	10.1	MTHFR F5
42	atherosclerosis susceptibility	10.1
43	coronary heart disease 1	10.1
44	end stage renal disease	10.1
45	organic acidemia	10.1	MTRR MTR
46	lateral sinus thrombosis	10.1	MTHFR F2
47	central nervous system origin vertigo	10.1	MTHFR F2
48	branch retinal artery occlusion	10.1	MTHFR F2
49	intracranial sinus thrombosis	10.1	MTHFR F2
50	mastoiditis	10.0	MTHFR F2

Graphical network of the top 20 diseases related to Homocysteinemia:

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Symptoms & Phenotypes for Homocysteinemia

GenomeRNAi Phenotypes related to Homocysteinemia according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance	GR00327-A	8.8	F5 MTHFR MTR

MGI Mouse Phenotypes related to Homocysteinemia:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	9.5	CBS ELN F2 F5 MTHFR MTR
2	mortality/aging	MP:0010768	9.17	CBS ELN F2 F5 MTHFR MTR

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Drugs & Therapeutics for Homocysteinemia

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

(show top 50) (show all 67)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Amlodipine

Approved

Phase 4

88150-42-9

2162

Hydrochlorothiazide

Approved, Vet_approved

Phase 4

58-93-5

3639

Hormones

Phase 4

Vasodilator Agents

Phase 4

Calcium, Dietary

Phase 4

calcium channel blockers

Phase 4

Adrenergic beta-Antagonists

Phase 4

Sodium Chloride Symporter Inhibitors

Phase 4

diuretics

Phase 4

Calcium

Nutraceutical

Phase 4

7440-70-2

271

Mecobalamin

Approved, Investigational

Phase 3

13422-55-4

Hydroxocobalamin

Approved

Phase 3

13422-51-0

15589840 44475014

Hydroquinone

Approved, Investigational

Phase 3

123-31-9

785

Sodium citrate

Approved, Investigational

Phase 3

68-04-2

23431961

Pyridoxine

Approved, Investigational, Nutraceutical, Vet_approved

Phase 3

65-23-6

1054

Cyanocobalamin

Approved, Nutraceutical

Phase 3

68-19-9

24892734 16212801 44176380

Creatine

Approved, Investigational, Nutraceutical

Phase 3

57-00-1

586

N,N,N-trimethylglycinium

Approved, Experimental, Investigational, Nutraceutical

Phase 3

6915-17-9, 107-43-7

248

Ascorbic acid

Approved, Nutraceutical

Phase 3

50-81-7

54676860 54670067 5785

Citric acid

Approved, Nutraceutical, Vet_approved

Phase 3

77-92-9

311

Choline

Approved, Nutraceutical

Phase 3

62-49-7

305

Cobalamin

Experimental

Phase 3

13408-78-1

6857388

Vitamin B6

Phase 3

Vitamin B12

Phase 3

Vitamin B 6

Phase 3

Vitamin B 12

Phase 3

Citrate

Phase 3

Pyridoxal

Experimental, Nutraceutical

Phase 3

66-72-8

1050

Flavin mononucleotide

Approved, Investigational

Phase 2

146-17-8

643976

Nicotinamide

Approved, Investigational

Phase 2

98-92-0

936

Niacin

Approved, Investigational, Nutraceutical

Phase 2

59-67-6

938

Vitamin A

Approved, Nutraceutical, Vet_approved

Phase 2

22737-96-8, 68-26-8

5280382 445354

Riboflavin

Approved, Investigational, Nutraceutical, Vet_approved

Phase 2

83-88-5

493570

Vitamin B3

Phase 2

Nicotinic Acids

Phase 2

Vitamin B2

Phase 2

Retinol palmitate

Phase 2

Antidotes

Phase 1

Pharmaceutical Solutions

Phase 1

Formyltetrahydrofolates

Phase 1

Protective Agents

Phase 1

Phylloquinone

Approved, Investigational

84-80-0

5284607

Memantine

Approved, Investigational

41100-52-1, 19982-08-2

4054

Acetylcysteine

Approved, Investigational

616-91-1

581 12035

Quinidine

Approved, Investigational

56-54-2, 130-95-0, 804-63-7

1065 441074 3034034 8549

Dextromethorphan

Approved

125-71-3

5362449 5360696

Zinc cation

Approved, Experimental, Investigational

7440-66-6, 23713-49-7

32051

Arginine

Approved, Investigational, Nutraceutical

74-79-3

6322

Menadione

Approved, Nutraceutical

58-27-5

4055

Lipoic acid

Approved, Investigational, Nutraceutical

1200-22-2

864 6112

Interventional clinical trials:

(show all 31)

#	Name	Status	NCT ID	Phase	Drugs
1	Effects of Intensive Antihypertensive Therapies on the Risk of Stroke in Hypertensive Adults: A Prospective Randomized Open-Label Blinded-Endpoint Trial, a Feasibility Study	Unknown status	NCT02817503	Phase 4	Standard BP control;Moderate BP control;Intensive BP control
2	Randomized Clinical Trial of Folate Therapy/Placebo for Reduction of Homocysteine Serum Levels in Uremic Patients and Influence on Cardiovascular Mortality	Completed	NCT00317005	Phase 4	folate treatment
3	Effect of Folic Acid Supplementation on Plasma Homocysteine Level in Obese Children: a Randomized Double Blinded Placebo Controlled Trial	Completed	NCT01766310	Phase 4	Folic Acid;placebo
4	Enalapril Maleate and Folic Acid Tablets for Prevention of Chronic Kidney Diseases in Patients With Hypertension: a Double-blind Randomized Controlled Trial	Withdrawn	NCT01871740	Phase 4	Enalapril maleate and folic acid tablets;Enalapril maleate
5	Efficacy of Amlodipine-Folic Acid Tablets on Reduction of Blood Pressure and Plasma Homocysteine in Patients With Mild to Moderate Hypertension, Hyperhomocysteinemia and Angiotension-Converting Enzyme Inhibitor Intolerance	Unknown status	NCT01956786	Phase 2, Phase 3	Amlodipine-FA tablet,low dose group;Amlodipine-FA tablet,high dose group;Amlodipine
6	Efficacy of Amlodipine-folic Acid Tablets on Reduction of Blood Pressure and Plasma Homocysteine in Patients With Mild to Moderate Hypertension and Hyperhomocysteinemia ：a Double-blind Randomized Controlled Trial	Unknown status	NCT01848873	Phase 2, Phase 3	Amlodipine;amlodipine-FA tablet, low dose group;amlodipine-FA tablet ,high dose group
7	CSP #453 - Homocysteinemia in Kidney and Endstage Renal Disease Study (HOST)	Completed	NCT00032435	Phase 3	PAL-40 Active;PAL-40 Placebo
8	Effects of Low-dose B-vitamins Supplementation on Plasma Homocysteine and Framingham Risk Score: Double Blind Randomized Controlled Trial in Healthy Chinese Elderly	Completed	NCT00755664	Phase 3
9	The Effects of 8-week Choline, Betaine, and Folic Acid Supplementation on Plasma Homocysteine Concentration During Guanidinoacetic Acid Loading in Young Healthy Volunteers	Completed	NCT01371357	Phase 3	TEST 1;TEST 2;TEST 3;TEST 4
10	Effectiveness of a Micronutrient Supplement to Lower Plasma Homocysteine in Non-pregnant Women of Reproductive Age	Completed	NCT03431597	Phase 2
11	Effect of Oral S-adenosylmethionine (SAMe) on Blood Levels of Homocysteine in Human Subjects	Completed	NCT00473200	Phase 1
12	Does Folinic Acid Supplementation Decrease Homocysteine Concentrations in Newborns	Completed	NCT00877227	Phase 1	5-formyltetrahydrofolate (10 mg/ml) (Pharmachemie bv)
13	Hyperhomocysteinemia in a Mild Cognitive Impairment and Dementia Population: the Effect of Treatment With Cerefolin NAC® in a Naturalistic Community-based Dementia Practice	Unknown status	NCT01594541
14	The Effects of Vitamin Supplementation Containing L-Methylfolate (Ocufolin® Forte) on Retinal Venous Pressure and Homocysteine Plasma Levels in Patients With Glaucoma	Completed	NCT05080153
15	Guanidinoacetic Acid With Creatine Compared With Creatine Alone for Tissue Bioenergetics, Hyperhomocysteinemia and Exercise Performance: a Randomized Double-blind Superiority Trial	Completed	NCT03350282
16	Randomized Study of Folic Acid Therapy for Hyperhomocysteinemia in Patients With End Stage Renal Disease Receiving Hemodialysis	Completed	NCT00004495		cyanocobalamin;folic acid;pyridoxine
17	To Critically Investigate and Evaluate Supplementary Vitamin B12 Effects on Elevated Homocysteine Levels of Vegetarians, Who May Have a Resultant Susceptibility to Hyperhomocysteinemia Related Diseases.	Completed	NCT01661309
18	Prevalence Of Hyperhomocysteinemia In Thai CKD Patients And Relationship To Cardiovascular Events: Subgroup Analysis From Thai SEEK Study	Completed	NCT01391416
19	Investigation the Incidence of Methylenetetrahydrofolate Reductase Deficiency in Ischemic Cerebrovascular Diseases Presenting With Epileptic Seizures in Adults	Completed	NCT04287881
20	Folic Acid Administration Reduces the Progression of Microalbuminuria	Completed	NCT00737126		Folic acid;Placebo
21	Effects of Oral Supplementation With Creatine on Plasma Homocysteine Levels and Systemic Microvascular Endothelial Function in Vegetarian Individuals	Completed	NCT02961972
22	Effect of a Dietary Supplement on Endothelial Function in Volunteers With Light to Moderate Hypertension - a Randomised, Double-blind, Placebo Controlled Cross-over Study	Completed	NCT02392767
23	The Dual Impact of Homocysteine and Cholesterol on Cognitive Functions	Completed	NCT03631238
24	5-methyltetrahydrofolate Survival and Inflammation in ESRD Patients	Completed	NCT00626223		5-MTHF (5-methyltetrahydrofolate);folic acid
25	Plasma Homocysteine Distribution in the United States	Completed	NCT00005483
26	Homocyst(e)Ine, Vitamin Status, and CVD Risk	Completed	NCT00005482
27	Cross-sectional Study of the Association of Muscle Strength, Tinetti Test (POMA) Scores and Other Predictor Variables With Serum Vitamin Levels (Vitamin B12, Vitamin D and Folate) in Elderly Patients With Type 2 Diabetes Mellitus	Completed	NCT03376490
28	Homocysteine and Progression of Atherosclerosis	Completed	NCT00005338
29	Effect of Vitamin B12 Supplementation on Glycaemic Control in Uncontrolled Hyperhomocysteinemic Type 2 Diabetic Patients	Completed	NCT02540642
30	Retrospective Analysis of the Comparative Effectiveness of MCI and Dementia Treatment Protocols in a Community-based Specialty Dementia Practice	Completed	NCT02860338
31	Supplementation of Compound Nutrients on Plasma Homocysteine in Chinese Adults With Hyperhomocysteinemia: a Randomized Double-blind Control Trial	Not yet recruiting	NCT03720249

Search NIH Clinical Center for Homocysteinemia

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Genetic Tests for Homocysteinemia

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Anatomical Context for Homocysteinemia

Organs/tissues related to Homocysteinemia:

MalaCards : Endothelial, Kidney, Heart, Smooth Muscle, Liver, Ovary, Brain

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Publications for Homocysteinemia

Articles related to Homocysteinemia:

(show top 50) (show all 590)

#	Title	Authors	PMID	Year
1	[Effect of polymorphisms on key enzymes in homocysteine metabolism, on plasma homocysteine level and on coronary artery-disease risk in a Tunisian population]. ⁵³ ⁶²	Belkahla R...Bouslama A	18620331	2008
2	Protective effect against alcohol dependence of the thermolabile variant of MTHFR. ⁵³ ⁶²	Saffroy R...Lemoine A	18328637	2008
3	Ocular vascular thrombotic events: central retinal vein and central retinal artery occlusions. ⁵³ ⁶²	Glueck CJ...Golnik K	18160589	2008
4	Off-pump coronary artery bypass graft surgery after stent implantation in a patient with combined thrombophilic risk factors. ⁵³ ⁶²	Eyileten Z...Akar N	17985012	2007
5	Hyperhomocysteinemia: clinical and therapeutical involvement in venous thrombosis. ⁵³ ⁶²	Hotoleanu C...Andercou A	18333369	2007
6	MTHFR gene polymorphism and diabetic retinopathy. ⁵³ ⁶²	Maeda M...Azuma J	18220649	2006
7	Serum homocysteine, folate level and methylenetetrahydrofolate reductase 677, 1298 gene polymorphism in Korean schizophrenic patients. ⁵³ ⁶²	Lee YS...Cho SC	16641680	2006
8	[Homocysteinemia and its relationship with the methylentetrahydrofolate reductase polymorphism in various ethnic groups from western Venezuela]. ⁵³ ⁶²	Vizcaino G...Arteaga-Vizcaino M	16353542	2005
9	Homocysteinemia as well as methylenetetrahydrofolate reductase polymorphism are associated with affective psychoses. ⁵³ ⁶²	Reif A...Lesch KP	16055253	2005
10	Hyperhomocysteinemia and the MTHFR C677T polymorphism promote steatosis and fibrosis in chronic hepatitis C patients. ⁵³ ⁶²	Adinolfi LE...Ruggiero G	15834927	2005
11	Methionine synthase (MTR) 2756 (A --> G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome. ⁵³ ⁶²	Bosco P...Gueant JL	12923861	2003
12	Air travel-associated venous thromboembolism. ⁵³ ⁶²	Iqbal O...Fareed J	12634460	2003
13	Fibrillin-2 defects impair elastic fiber assembly in a homocysteinemic chick model. ⁵³ ⁶²	Hill CH...Starcher B	12163653	2002
14	[Can blood homocysteine explain the family history of vascular diseases?]. ⁵³ ⁶²	Reis RP...Luis AS	11433886	2001
15	Targeted disruption of the methionine synthase gene in mice. ⁵³ ⁶²	Swanson DA...Brody LC	11158293	2001
16	[Splenic thrombosis and celiac disease: a fortuitous association?]. ⁵³ ⁶²	Andres E...Geisler F	11244621	2000
17	A fluorescein angiographic study of branch retinal artery occlusion (BRAO) - the retrograde filling of occluded vessels. ⁵³ ⁶²	Schmidt D	10611053	1999
18	Opposite effects of plasma homocysteine and the methylenetetrahydrofolate reductase C677T mutation on carotid artery geometry in asymptomatic adults. ⁵³ ⁶²	Demuth K...Girerd X	9848874	1998
19	Thrombophilia: disorders predisposing to venous thromboembolism. ⁵³ ⁶²	Pineo GF...Hull RD	10331092	1998
20	Biochemistry and molecular genetics of cystathionine beta-synthase deficiency. ⁵³ ⁶²	Kraus JP	9587026	1998
21	Myocardial infarction in a 35-year-old man with homocysteinemia, high plasminogen activator inhibitor activity, and resistance to activated protein C. ⁵³ ⁶²	Glueck CJ...Alasmi M	9439545	1997
22	A mutation in the methylenetetrahydrofolate reductase gene is not associated with increased risk for coronary artery disease or myocardial infarction. ⁵³ ⁶²	Anderson JL...Carlquist JF	9350916	1997
23	Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification. ⁵³ ⁶²	Goyette P...Rozen R	7920641	1994
24	[Inherited thrombophilia]. ⁵³ ⁶²	Lopaciuk S	7998473	1994
25	Disordered methionine/homocysteine metabolism in premature vascular disease. Its occurrence, cofactor therapy, and enzymology. ⁵³ ⁶²	Dudman NP...Lundberg P	8364009	1993
26	Homocysteine catabolism: levels of 3 enzymes in cultured human vascular endothelium and their relevance to vascular disease. ⁵³ ⁶²	Wang J...Lynch JF	1445498	1992
27	Impaired homocysteine metabolism in early-onset cerebral and peripheral occlusive arterial disease. Effects of pyridoxine and folic acid treatment. ⁵³ ⁶²	Brattstrom L...Hamfelt A	2407253	1990
28	Clinical, Laboratory, Histopathological and Therapeutic Profile of Livedoid Vasculopathy: A Case Series of 17 Patients. ⁶²	Shah SR...Shah BJ	36386750	2022
29	Homocysteinemia and vascular disease: Where we stand in 2022. ⁶²	Palma Reis R	36210588	2022
30	Association between homocysteinemia and mortality in CKD: A propensity-score matched analysis using NHANES-National Death Index. ⁶²	Song JH...Yoo KD	36086712	2022
31	Nonalcoholic Fatty Liver Disease and Altered Neuropsychological Functions in Patients with Subcortical Vascular Dementia. ⁶²	Moretti R...Tiribelli C	35887603	2022
32	Comparison of the Levels of Blood Homocysteine between Women with Unexplained Infertility and Normal Fertility. ⁶²	Sultana MN...Ara R	35780351	2022
33	[Factors affecting phenotypes in the patients with MMACHC gene c.609G>A homozygous variant cblC type methylmalonic acidemia combined with homocysteinuria]. ⁶²	He R...Yang Y	35773756	2022
34	Hyperhomocysteinemia presenting as exclusive small vessel coronary artery disease (CAD) in a young. ⁶²	Das D...Pramanik S	36119322	2022
35	The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency. ⁶²	Wood WD...Wolf MTF	34854955	2022
36	Nitrous oxide-induced predominantly motor neuropathies: a follow-up study. ⁶²	Berling E...Zanin A	34741241	2022
37	Homozygous whole body Cbs knockout in adult mice features minimal pathology during ageing despite severe homocysteinemia. ⁶²	Nakladal D...Deelman LE	35315960	2022
38	Significance of hyperhomocysteinaemia as an effective marker for vasculogenic erectile dysfunction: a cross-sectional study. ⁶²	Wang X...Yuan M	35402190	2022
39	Folic Acid Homeostasis and Its Pathways Related to Hepatic Oxidation in Adolescent Rats Exposed to Binge Drinking. ⁶²	Gallego-Lopez MDC...Carreras O	35204242	2022
40	A rise in cases of nitrous oxide abuse: neurological complications and biological findings. ⁶²	Einsiedler M...Bigaut K	34245346	2022
41	Influence of anti-TNF therapy and homocysteine level on carotid intima-media thickness in rheumatoid arthritis patients. ⁶²	Anghel D...Ionita-Radu F	34917185	2022
42	Case Report: Surgical thrombectomy in a patient with isolated cortical vein thrombosis previously misdiagnosed as brain tumor. ⁶²	Bai Y...Liang G	36408136	2022
43	Paracentral acute middle maculopathy (PAMM) associated with ulcerative colitis and coexisting hyperhomocysteinemia: A case report. ⁶²	Alkabes M...De Cilla S	32993378	2022
44	Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager. ⁶²	Cheng S...Li N	36338977	2022
45	Case Report: A Case of Late-Onset Combined Methylmalonic Acidemia and Hyperhomocysteinemia Induced by a Vegetarian Diet. ⁶²	Xu B...Tang H	35903162	2022
46	Intrauterine Limb Ischemia in Patient Heterozygous for the 677C>T) RS1801133 (Polymorphism of Methylenetetrahydrofolate Reductase MTHR Gene. ⁶²	Al Hammouri A...Alzughayyar TZ	36313901	2022
47	Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria. ⁶²	Liu Y...Yang Y	35358224	2022
48	Acute Lymphoblastic Leukemia in Combined Methylmalonic Acidemia and Homocysteinemia (cblC Type): A Case Report and Literature Review. ⁶²	Zhu J...Jiang H	35495149	2022
49	A Case-Control Study of the MTHFR C665T Gene Polymorphism on Macrocytic Anemia Among HIV-Infected Patients Receiving Zidovudine. ⁶²	Pertiwi D...Probandari AN	35937309	2022
50	A Case of Portal Vein Thrombosis in a Patient With Methylenetetrahydrofolate Reductase A1298C Polymorphism. ⁶²	Martin A...Smith T	35251815	2022

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Genes for Homocysteinemia

Genes related to Homocysteinemia (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	MTHFR	Methylenetetrahydrofolate Reductase	Protein Coding	27.3	Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	16055253 15834927 18220649 (more) 18328637 9439545 9350916 18620331 18333369 16641680 7920641 9848874 16353542 11244621
2	MTR	5-Methyltetrahydrofolate-Homocysteine Methyltransferase	Protein Coding	16.68	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11158293 12923861
3	F5	Coagulation Factor V	Protein Coding	14.39	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	9439545 10611053 17985012 (more) 7998473 10331092 12634460 18160589
4	CBS	Cystathionine Beta-Synthase	Protein Coding	10.18	Novoseek inferred ⁵³	9587026 2407253 1445498 (more) 8364009 19889633 11433886
5	MTRR	5-Methyltetrahydrofolate-Homocysteine Methyltransferase Reductase	Protein Coding	7.36	GeneCards inferred via : Publications (show sections)
6	F2	Coagulation Factor II, Thrombin	Protein Coding	6.67	GeneCards inferred via : Publications (show sections)
7	ELN	Elastin	Protein Coding	4.1	Novoseek inferred ⁵³	12163653

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Variations for Homocysteinemia

ClinVar genetic disease variations for Homocysteinemia:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	CBS	NM_000071.3(CBS):c.770C>T (p.Thr257Met)	SNV	Uncertain Significance	188927	rs758236584	GRCh37: 21:44484068-44484068 GRCh38: 21:43063958-43063958

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Expression for Homocysteinemia

Search GEO for disease gene expression data for Homocysteinemia.

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Pathways for Homocysteinemia

Pathways related to Homocysteinemia according to GeneCards Suite gene sharing:

(show all 11)

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism of water-soluble vitamins and cofactors ⁶⁶ Show member pathways Biotin metabolism, including IMDs ⁷⁴ Biotin transport and metabolism ⁶⁶ Coenzyme A biosynthesis ⁶⁶ Defective BTD causes biotidinase deficiency ⁶⁶ Defective HLCS causes multiple carboxylase deficiency ⁶⁶ Defects in biotin (Btn) metabolism ⁶⁶ Metabolism of cofactors ⁶⁶ Metabolism of folate and pterines ⁶⁶ Metabolism of vitamins and cofactors ⁶⁶ molybdenum cofactor biosynthesis ⁶¹ Molybdenum cofactor biosynthesis ⁶⁶ Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation ⁶⁶ thiamin salvage III ⁶¹ Ubiquinol biosynthesis ⁶⁶ Vitamin B1 (thiamin) metabolism ⁶⁶ Vitamin B2 (riboflavin) metabolism ⁶⁶ Vitamin B5 (pantothenate) metabolism ⁶⁶ Vitamin C (ascorbate) metabolism ⁶⁶ Vitamins B6 activation to pyridoxal phosphate ⁶⁶	12.32	MTRR MTR MTHFR
2	One-carbon metabolism and related pathways ⁷⁴ Show member pathways dTMP de novo biosynthesis (mitochondrial) ⁶¹ Trans-sulfuration, one-carbon metabolism and related pathways ⁷⁴	11.58	MTR MTHFR CBS
3	2-oxobutanoate degradation ⁶¹ Show member pathways 2-oxobutanoate degradation I ⁶¹ L-threonine degradation V ⁶¹ propanoyl CoA degradation I ⁶¹ propionyl-CoA degradation ⁶¹ superpathway of L-methionine salvage and degradation ⁶¹ superpathway of methionine degradation ⁶¹ threonine degradation ⁶¹	11.38	MTR CBS
4	Sulfur amino acid metabolism ⁶⁶ Show member pathways Cysteine and methionine catabolism ⁷⁴ Degradation of cysteine and homocysteine ⁶⁶ Ethylmalonic encephalopathy ⁷⁴ Methionine salvage pathway ⁶⁶ sulfide oxidation IV (metazoa) ⁶¹ Sulfide oxidation to sulfate ⁶⁶ thiosulfate disproportionation III (rhodanese) ⁶¹	11.31	MTRR MTR CBS
5	Ethanol effects on histone modifications ⁷⁴	10.95	MTR MTHFR
6	Trans-sulfuration pathway ⁷⁴ Show member pathways L-cysteine degradation III ⁶¹ Methionine metabolism leading to sulfur amino acids and related disorders ⁷⁴	10.76	MTR CBS
7	Disorders of folate metabolism and transport ⁷⁴ Show member pathways Glycine metabolism ⁷⁴ glycine/serine biosynthesis ⁶¹	10.73	MTR MTHFR
8	Methotrexate Pathway (Cancer Cell), Pharmacodynamics and Pharmacokinetics ⁶⁰ Show member pathways Antimetabolite Pathway - Folate Cycle, Pharmacodynamics ⁶⁰ One-carbon metabolism ⁷⁴ tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate ⁶¹	10.7	MTRR MTR MTHFR CBS
9	Methionine metabolism ²²	10.54	MTR CBS
10	Folate-alcohol and cancer pathway hypotheses ⁷⁴	10.09	MTR MTHFR CBS
11	Defective MTR causes HMAG ⁶⁶ Show member pathways Defective MTRR causes HMAE ⁶⁶	9.76	MTRR MTR

Sources

GO Terms for Homocysteinemia

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

#	Name	GO ID	Score	Top Affiliating Genes
1	blood circulation	GO:0008015	9.73	F5 ELN
2	response to folic acid	GO:0051593	9.67	MTHFR CBS
3	homocysteine catabolic process	GO:0043418	9.56	MTRR CBS
4	methionine biosynthetic process	GO:0009086	9.43	MTRR MTR MTHFR
5	hemostasis	GO:0007599	9.4	F5 F2
6	amino acid biosynthetic process	GO:0008652	9.33	MTRR MTR CBS
7	regulation of body fluid levels	GO:0050878	9.32	F5 F2
8	homocysteine metabolic process	GO:0050667	9.1	MTRR MTHFR CBS