MCID: HMC002
MIFTS: 46

Homocystinuria malady

Rare diseases, Metabolic diseases categories

Aliases & Classifications for Homocystinuria

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Aliases & Descriptions for Homocystinuria:

Name: Homocystinuria 10 68 45 23 47 12 24 65 36
Cystathionine Beta Synthase Deficiency 10 23
Homocysteinemia 23 65
Cystathionine Beta-Synthase Deficiency Disease 65
 
Cystathionine Synthase Deficiency 10
Cystathionine Beta-Synthase 11
Cbs Deficiency 10


Classifications:



External Ids:

Disease Ontology10 DOID:9263
MeSH36 D006712
SNOMED-CT59 190709008, 11282001
NCIt42 C84765

Summaries for Homocystinuria

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NIH Rare Diseases:45 Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. the most common form, called cystathionine beta-synthase deficiency, is characterized by dislocation of the lens in the eye, an increased risk of abnormal blood clots, skeletal abnormalities, and sometimes problems with development and learning. less common forms are caused by a lack of other enzymes. these disorders can cause intellectual disability, seizures, problems with movement, and a blood disorder called megaloblastic anemia. mutations in the cbs, mthfr, mtr, and mtrr genes cause homocystinuria, and it is inherited in an autosomal recessive manner. treatment varies depending upon the cause of the disorder. last updated: 4/12/2011

MalaCards based summary: Homocystinuria, also known as cystathionine beta synthase deficiency, is related to methylmalonic aciduria and homocystinuria, cblc type and methylmalonic aciduria and homocystinuria, cblf type. An important gene associated with Homocystinuria is MMACHC (Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, With Homocystinuria), and among its related pathways are Defective MTR causes methylmalonic aciduria and homocystinuria type cblG and Trans-sulfuration pathway. The drugs betaine and betaine hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and liver.

Disease Ontology:10 An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.

Genetics Home Reference:23 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.

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 265)
idRelated DiseaseScoreTop Affiliating Genes
1methylmalonic aciduria and homocystinuria, cblc type31.3CBS, MMACHC, MTR
2methylmalonic aciduria and homocystinuria, cblf type31.2LMBRD1, MMACHC
3homocystinuria due to mthfr deficiency30.8MTHFR, MTR
4retinitis30.1F5, MTHFR, SERPINC1
5cblg30.0LMBRD1, MTR, TCN2
6myocardial infarction29.7CBS, F5, MTHFR, SERPINC1
7cavernous sinus thrombosis29.6F5, MTHFR, SERPINC1
8neural tube defects29.6CBS, MTHFR, MTR, MTRR, TCN2
9thrombophlebitis29.5F5, MTHFR, SERPINC1
10homocystinuria due to cbs deficiency29.5CBS, F5, FBN1, MMACHC, MTHFR, MTR
11methylmalonic acidemia with homocystinuria, type cbld10.6
12down syndrome10.6
13classic homocystinuria10.6
14methylmalonic aciduria and homocystinuria, cbld type10.5
15homocystinuria-megaloblastic anemia, cbl e type10.5
16methylmalonic acidemia with homocystinuria, type cblj10.5
17homocystinuria, b6-responsive and nonresponsive types10.5
18homocystinuria caused by cystathionine beta-synthase deficiency10.4
19leukemia10.4
20cleft lip10.4
21congenital heart disease10.4
22homocystinuria-megaloblastic anemia, cblg complementation type10.4
23megaloblastic anemia10.4
24cerebritis10.4
25methylmalonic acidemia with homocystinuria10.4
26methylmalonic aciduria and homocystinuria, cblj type10.4
27hyperhomocysteinemia10.4
28methylmalonic acidemia10.4
29carotid artery dissection10.4
30dystonia10.3
31vascular disease10.3
32neuroblastoma10.3
33hepatocellular carcinoma10.3
34coronary artery disease10.3
35alzheimer disease10.3
36adrenoleukodystrophy10.3
37megakaryocytic leukemia10.3
38pancreatic ductal adenocarcinoma10.3
39malignant hyperthermia10.3
40myelomeningocele10.3
41ovarian cancer10.3
42systemic onset juvenile idiopathic arthritis10.3
43febrile seizures10.3
44y-linked disease10.3MTR, MTRR
45congenital intrinsic factor deficiency10.3MTR, MTRR
46pancreatitis10.3
47sagittal sinus thrombosis10.2
48amino acid metabolic disorder10.2
49artery disease10.2
50connective tissue disease10.2

Graphical network of the top 20 diseases related to Homocystinuria:



Diseases related to homocystinuria

Symptoms for Homocystinuria

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Drugs & Therapeutics for Homocystinuria

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

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BetainePhase 3, Phase 231107-43-7247
Synonyms:
(Carboxymethyl)trimethylammonium hydroxide inner salt
(Trimethylammonio)acetate
1-Carboxy-N,N,N-trimethyl-Methanaminium
1-Carboxy-N,N,N-trimethyl-Methanaminium hydroxide
1-Carboxy-N,N,N-trimethylmethanaminium inner salt
Abromine
Aminocoat
Betafin
Betafin BCR
Betafin BP
Betaine
Cystadane
Ektasolve EE
FinnStim
Glycine betaine
 
Glycocoll betaine
Glycylbetaine
Greenstim
Loramine AMB 13
Loramine AMB-13
Lycine
N,N,N-Trimethylglycine
Oxyneurine
Rubrine C
Trimethylaminoacetate
Trimethylaminoacetic acid
Trimethylbetaine Glycine
Trimethylglycine
Trimethylglycocoll
a-Earleine
alpha-Earleine
2
AcetylcysteineapprovedPhase 2280616-91-112035
Synonyms:
(2R)-2-acetylamino-3-Sulfanylpropanoic acid
(R)-2-acetylamino-3-Mercaptopropanoic acid
(R)-Mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
 
Flumucetin
Fluprowit
L-Acetylcysteine
L-alpha-acetamido-beta-Mercaptopropionic acid
Mercapturic acid
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
Sodium 2-acetamido-3-mercaptopropionate
3
HydroxocobalaminapprovedPhase 221713422-51-011953898, 5460373, 44475014
Synonyms:
13422-51-0
22465-48-1
78091-12-0
8017-22-9
Acti-B12
AlphaRedisol
AlphaRedisol (TN)
Axion
Axlon
Benzimidazolyl ribofuranosyl phosphate deriv.
C08230
C62H85CoN13O15P
CHEBI:27786
CHEMBL1200742
CHEMBL235822
CID11622291
CID11953898
CID5460373
CID6433575
CID6474319
Ciplamin H
Coalpha-[alpha-(5,6-dimethylbenzimidazolyl)]-Cobeta-hydroxocobamide
Cobalex
Cobalin H
Cobinamide dihydroxide dihydrogen phosphate (ester), mono(inner salt), 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-a-D-ribofuranosylbenzimidazole inner salt
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole inner salt
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-alpha-delta-ribofuranosylbenzimidazole inner salt
Cobinamide, Co-hydroxy-, dihydrogen phosphate (ester), inner salt, 3'-ester with (5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole-kappaN3)
Cobinamide, Co-hydroxy-, f-(dihydrogen phosphate), inner salt, 3'-ester with (5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole-kappaN3)
Cobinamide, dihydroxide, dihydrogen phosphate (ester), mono (inner salt), 3'- ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole
Cobinamide, dihydroxide, dihydrogen phosphate (ester), mono(inner salt), 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole
Cobinamide, hydroxide, dihydrogen phosphate (ester), inner salt, 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole
Codroxomin
Cyanokit
Cyanokit (TN)
D01027
DB00200
Depogamma
Docclan
Docelan
Docelvita
Docevita
Droxomin
Ducobee Hy
Ducobee-Hy
Duradoce
Duralta-12
EINECS 236-533-2
HSDB 3342
HYDROXOCOBALAMIN
Hidroxocobalamina
Hidroxocobalamina [INN-Spanish]
 
Hydro Cobex
Hydrobamine
Hydrocobalamin
Hydrogrisevit
Hydrovit
Hydroxocobalamin
Hydroxocobalamin (JAN/USP/INN)
Hydroxocobalamin Vitamin B12
Hydroxocobalamin [USAN:INN:BAN:JAN]
Hydroxocobalamin acetate
Hydroxocobalamin monohydrochloride
Hydroxocobalamin(alkaline soln.), OH- replaces CN- in Cyanocobalamin)
Hydroxocobalaminacetat
Hydroxocobalamine
Hydroxocobalamine [INN-French]
Hydroxocobalaminum
Hydroxocobalaminum [INN-Latin]
Hydroxocobemine
Hydroxomin
Hydroxy Cobal
Hydroxy vitamin B12
Hydroxycob(lll)alamin
Hydroxycobalamin
Hydroxycobalamine
Hyxobamine
Idrogrisevit
Idrossocobalamina
Idrossocobalamina [DCIT]
LS-54607
Lyovit-H
Neo-Betalin 12
Neo-cytamen
Neo-macrabin
Neo-rojamin
OH-Cbl
OH-Duphar
Ohb12
Oxobemin
Oxolamine (arcum)
Primabalt RP
Redisol-H
S1668_Selleck
Sytobex-H
UNII-Q40X8H422O
Vibeden
Vitadurin
Vitamin B(sub 12a)
Vitamin B-12b
Vitamin B12a
Vitamin B12b
a-(5,6-Dimethylbenzimidazolyl)hydroxocobamide
alpha Cobione
alpha-(5,6-Dimethylbenzimidazolyl)hydroxocobamide
vitamin B-12b
4
Cyanocobalaminapproved, nutraceuticalPhase 221768-19-944176380, 44176380, 5462245
Synonyms:
Anacobin
Bedoz
Berocca PN
Berubigen
Betalin 12
Betalin 12 Crystalline
Betaline-12
Betolvex
Bevidox
Bevidox concentrate
Biocobalamine
Byladoce
Cabadon m
Cernevit-12
Cobadoce forte
Cobalin
Cobavite
Cobex
Cobolin-M
Copharvit 5000
Covit
Crystamin
Crystamine
Crysti-12
Crystimin
Crystwel
Cyano-B12
Cyanobalamin concentrate
Cyanocob(III)alamin
Cyanocobalamin
Cyanocobalamin (JP15/USP)
Cyanocobalamin Co 57 Schilling Test Kit
Cyanocobalamine
Cyanocobalmin
Cyanoject
Cycobemin
Cycolamin
Cykobemin
Cykobeminet
Cyomin
Cyredin
Cytacon
Cytamen
Cytobion
Depinar
Dicopac
Dicopac Kit
Dimethylbenzimidazoylcobamide
Distivit
Docemine
Docibin
Docivit
Dodecabee
Dodecavite
Dodex
Duodecibin
Embiol
Emociclina
Eritrone
 
Erycytol
Erythrotin
Euhaemon
Extrinsic factor
Factor II
Fermin
Fresmin
Hemomin
Hepagon
Hepavis
Hepcovite
Hylugel plus
Infuvite Pediatric
Lactobacillus lactis dorner factor
M.V.I. Pediatric
Macrabin
Megabion
Megalovel
Milbedoce
Millevit
Nagravon
Nascobal
Nascobal (TN)
Neuroforte-R
Normocytin
Novidroxin
Pernaemon
Pernaevit
Pernipuron
Plecyamin
Poyamin
Primabalt
Rebramin
Redamina
Redisol
Rhodacryst
Rubesol
Rubivite
Rubramin
Rubramin PC
Rubratope-57 Kit
Rubratope-60 Kit
Rubripca
Rubrocitol
Ruvite
Shovite
Sytobex
Vi-Twel
Vibal
Vibalt
Vibisone
Virubra
Vita-rubra
Vitabee 12
Vitamin B12
Vitamin B12 Preparation
Vitamin B12 complex
Vitaped
Vitarubin
Vitral
vitamine b12
5N-monoacetylcystinePhase 2280
6ExpectorantsPhase 2320
7Vitamin B 12Phase 2224
8Vitamin B12NutraceuticalPhase 2217
9
CobalaminNutraceuticalPhase 221713408-78-16438156
Synonyms:
5,6-Dimethyl-1-a-D-ribofuranosyl-1H-benzimidazole
5,6-Dimethyl-1-a-D-ribofuranosylbenzimidazole
5,6-Dimethyl-1-alpha-delta-ribofuranosyl-1H-benzimidazole
5,6-Dimethyl-1-alpha-delta-ribofuranosylbenzimidazole
Cob(III)alamin
Cobalamin (III)
Cobalamine
 
Cobinamide ion(1+) dihydrogen phosphate (ester) inner salt 3'-ester
Cobinamide ion(1+) dihydrogen phosphate (ester) inner salt 3'-ester with 5,6-dimethyl-1-alpha-delta-ribofuranosyl-1H-benzimidazole
Hydroxomin
Rubivite
Rubratope-57
Rubratope-60
Ruvite
Vitamin B12
10
Taurineexperimental, NutraceuticalPhase 1, Phase 221107-35-71123
Synonyms:
1-Aminoethane-2-sulfonate
1-Aminoethane-2-sulfonic acid
2-Aminoethanesulfonate
2-Aminoethanesulfonic acid
2-Aminoethylsulfonate
2-Aminoethylsulfonic acid
 
2-Sulfoethylamine
Aminoethylsulfonate
Aminoethylsulfonic acid
Taurine
b-Aminoethylsulfonate
b-Aminoethylsulfonic acid
beta-Aminoethylsulfonate
beta-Aminoethylsulfonic acid
11
MethylcobalaminNutraceuticalPhase 221713422-55-4
Synonyms:
Algobaz
Co-Methylcobalamin
Hitocobamin M
MeCbl
Mecobalamin
Methycobal
 
Methyl cobalamine
Methyl vitamin B12
Methyl-5,6-dimethylbenzimidazolylcobalamin
Methyl-B12
Methylcob(III)alamin
Methylcobalamin
Methylcobaz

Interventional clinical trials:

idNameStatusNCT IDPhase
1Betaine and Peroxisome Biogenesis DisordersRecruitingNCT01838941Phase 3
2Homocystinuria: Treatment With N-AcetylcysteineCompletedNCT00483314Phase 2
3Betaine METABOLISM OF PATIENTS With HomocystinuriaRecruitingNCT02404337Phase 2
4Oxidative Stress Markers In Inherited Homocystinuria And The Impact Of TaurineActive, not recruitingNCT01192828Phase 1, Phase 2
5EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological ImpairmentActive, not recruitingNCT01793090Phase 2
6Study of Homocysteine Metabolism in HomocystinuriaCompletedNCT00004356
7Normal Values of Oxidative Stress, Taurine, and Related MarkersNot yet recruitingNCT02649777

Search NIH Clinical Center for Homocystinuria

Inferred drug relations via UMLS65/NDF-RT43:


Cochrane evidence based reviews: Homocystinuria

Genetic Tests for Homocystinuria

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Genetic tests related to Homocystinuria:

id Genetic test Affiliating Genes
1 Homocystinuria24

Anatomical Context for Homocystinuria

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MalaCards organs/tissues related to Homocystinuria:

33
Eye, Bone, Liver, Skin, Testes, Endothelial, Brain

Animal Models for Homocystinuria or affiliated genes

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Publications for Homocystinuria

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Articles related to Homocystinuria:

(show top 50)    (show all 535)
idTitleAuthorsYear
1
Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism. (25155779)
2014
2
Varied phenotypic presentations of homocystinuria in two siblings. (24492508)
2014
3
cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period. (23430521)
2013
4
Methionine/galactose ratio on newborn blood spots useful for reduction of false positives for homocystinuria and galactosemia by high-performance anion-exchange chromatography with pulsed amperometric detection. (21951896)
2012
5
Transient ischemic attack in a child with homocystinuria. (23248707)
2012
6
Homocystinuria masquerading as vitamin B12 deficiency. (22864044)
2012
7
From apneic spells to the development of hypertensive hydrocephalus: a case report of homocystinuria with early onset. (19509410)
2010
8
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. (19836982)
2010
9
Different phenotypy in three siblings with homocystinuria. (19430269)
2009
10
Methylenetetrahydrofolate reductase deficiency (homocystinuria type II) as a rare cause of rapidly progressive tetraspasticity and psychosis in a previously healthy adult. (18854913)
2008
11
Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type. (18848477)
2008
12
Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria. (16087854)
2005
13
Molecular analysis of homocystinuria in Brazilian patients. (15993874)
2005
14
Cerebral edema associated with betaine treatment in classical homocystinuria. (15069409)
2004
15
CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families. (12555939)
2002
16
Sagittal sinus thrombosis in a teenager: homocystinuria associated with reversible antithrombin deficiency. (12162390)
2002
17
Vascular complications of homocystinuria: a retrospective multicenter study]. (11928374)
2002
18
Homocystinuria due to cystathionine beta-synthase deficiency associated with megaloblastic anaemia. (11887982)
2001
19
Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study. (11742888)
2001
20
Molecular and clinical characterisation of homocystinuria in two Austrian families with cystathionine beta-synthase deficiency. (11774777)
2001
21
Oxidative stress and platelet activation in homozygous homocystinuria. (11535567)
2001
22
Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: effects of homocysteine-lowering therapy. (11011851)
2000
23
Decreased circulating plasma lipids in patients with homocystinuria. (10384378)
1999
24
Evidence of carotid artery wall hypertrophy in homozygous homocystinuria. (9826314)
1998
25
Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria. (9889017)
1998
26
Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223 + 37 del99. (9266356)
1997
27
Betaine for homocystinuria. (9025725)
1997
28
An adult case of homocystinuria probably due to methylenetetrahydrofolate-reductase deficiency--treatment with folic acid and the course of coagulation-fibrinolysis parameters]. (8752689)
1996
29
Homocystinuria and transsexualism. (8622374)
1996
30
Homocystinuria and administration of nitrous oxide. (7661974)
1995
31
Free amino acids in amniotic fluid and the prenatal diagnosis of homocystinuria with methylmalonic aciduria. (7586560)
1995
32
Homocystinuria: a family with peculiar genetic transmission. (8335602)
1993
33
Homocystinuria: clinical and pathologic review, with emphasis on thrombotic features, including pulmonary artery thrombosis. (8316525)
1993
34
Molecular defect in a patient with pyridoxine-responsive homocystinuria. (8353501)
1993
35
Pyridoxine-unresponsive homocystinuria with an unusual clinical course. (2333882)
1990
36
Carriership for homocystinuria in juvenile vascular disease. (2680810)
1989
37
Screening of congenital hypothyroidism, phenylketonuria, galactosemia, homocystinuria, and maple syrup urine disease in moderate to severe mentally retarded Chinese children. (2787833)
1989
38
Postoperative dystonia in a female patient with homocystinuria. (3183844)
1988
39
The effect of oral betaine on vertebral body bone density in pyridoxine-non-responsive homocystinuria. (3148071)
1988
40
Untreated homocystinuria: a maternal death in a woman with four pregnancies. Case report. (3663536)
1987
41
Defective DNA excision repair in cells of patients with homocystinuria. (3118205)
1987
42
Hemiplegia in homocystinuria. (3793712)
1986
43
Central and peripheral nervous system pathology of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency. (2854737)
1985
44
Screening for homocystinuria. (6515533)
1984
45
Homocysteinemia, ischemic heart disease, and the carrier state for homocystinuria. (6684724)
1983
46
Immunochemical studies on cultured fibroblasts from patients with homocystinuria due to cystathionine beta-synthase deficiency. (7081217)
1982
47
Pyridoxine-responsive homocystinuria. (7012699)
1981
48
Epileptiform ocular movements with methylmalonic aciduria and homocystinuria. (7425038)
1980
49
Maternal homocystinuria: studies of an untreated mother and fetus. (7436540)
1980
50
De subitaneis mortibus. IV. Coronary vessels and conduction system in homocystinuria. (4810564)
1974

Variations for Homocystinuria

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Expression for genes affiliated with Homocystinuria

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Search GEO for disease gene expression data for Homocystinuria.

Pathways for genes affiliated with Homocystinuria

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Pathways related to Homocystinuria according to GeneCards Suite gene sharing:

(show all 11)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9MTR, MTRR
29.8CBS, MTR
39.8CBS, MTHFR
4
Show member pathways
9.5CBS, MTR, MTRR
5
Show member pathways
9.5CBS, MTHFR, MTR
69.3LMBRD1, MMACHC, TCN2
7
Show member pathways
8.9MMACHC, MMADHC, MTR, MTRR, TCN2
8
Show member pathways
8.7CBS, MTHFR, MTR, MTRR, TCN2
97.9ABCD4, LMBRD1, MMACHC, MMADHC, MTR, MTRR
10
Show member pathways
7.5ABCD4, LMBRD1, MMACHC, MMADHC, MTHFR, MTR
11
Show member pathways
7.2ABCD4, CBS, LMBRD1, MMACHC, MMADHC, MTHFR

GO Terms for genes affiliated with Homocystinuria

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1methionine metabolic processGO:000655510.4MTHFR, MTRR
2homocysteine catabolic processGO:004341810.3CBS, MTRR
3homocysteine metabolic processGO:005066710.2CBS, MTHFR
4methionine biosynthetic processGO:000908610.0MTHFR, MTR, MTRR
5folic acid metabolic processGO:004665510.0MTHFR, MTRR
6sulfur amino acid metabolic processGO:000009610.0CBS, MTR, MTRR
7blood circulationGO:00080159.7F5, MTHFR
8cellular nitrogen compound metabolic processGO:00346419.2CBS, MTR, MTRR
9cobalamin metabolic processGO:00092358.4ABCD4, LMBRD1, MMACHC, MMADHC, MTR, MTRR
10vitamin metabolic processGO:00067667.8ABCD4, LMBRD1, MMACHC, MMADHC, MTHFR, MTR
11water-soluble vitamin metabolic processGO:00067677.8ABCD4, LMBRD1, MMACHC, MMADHC, MTHFR, MTR
12small molecule metabolic processGO:00442817.2ABCD4, CBS, LMBRD1, MMACHC, MMADHC, MTHFR

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

idNameGO IDScoreTop Affiliating Genes
1NADP bindingGO:00506619.8MTHFR, MTRR
2modified amino acid bindingGO:00723419.7CBS, MTHFR
3cobalamin bindingGO:00314199.1LMBRD1, MMACHC, MTR, TCN2

Sources for Homocystinuria

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet