MCID: HMC002
MIFTS: 61

Homocystinuria malady

Summaries for Homocystinuria

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 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: Homocystinuria, also known as cystathionine beta synthase deficiency, is related to down syndrome and retinal vein occlusion. An important gene associated with Homocystinuria is MMADHC (methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria), and among its related pathways are Trans-sulfuration pathway and glycine biosynthesis I. The drugs betaine and betaine hydrochloride and the compounds methyl-group and corrinoid have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and liver, and related mouse phenotypes are liver/biliary system and homeostasis/metabolism.

Disease Ontology:8 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:21 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.

Wikipedia:63 Classical Homocystinuria, also known as cystathionine beta synthase deficiency or CBS deficiency, is an... more...

Aliases & Classifications for Homocystinuria

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8Disease Ontology, 9diseasecard, 63Wikipedia, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 39NCIt, 56SNOMED-CT, 34MeSH
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Aliases & Descriptions:

homocystinuria 8 63 42 22 21 10 44 60
cystathionine beta synthase deficiency 8 21
cystathionine beta-synthase deficiency disease 60
cystathionine synthase deficiency 8
cystathionine beta-synthase 9
hyperhomocysteinemia 60
homocysteinemia 21
cbs deficiency 8


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Disease Ontology8 DOID:9263
NCIt39 C84765
SNOMED-CT56 190709008, 11282001
MeSH34 D006712

Related Diseases for Homocystinuria

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17GeneCards, 18GeneDecks
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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/GeneDecks gene sharing:

(show top 50)    (show all 266)
idRelated DiseaseScoreTop Affiliating Genes
1down syndrome30.7MTRR, MTHFR, MTR, CBS
2retinal vein occlusion30.5MTHFR, SERPINC1
3cleft palate30.5MTR, MTHFR
4cleft lip30.5MTRR, MTHFR, MTR
5leukemia30.5MTHFR, MTR, CBS, TCN2, OTC
6central retinal vein occlusion30.5MTHFR
7megaloblastic anemia30.5MTRR, MTHFR, MTR, TCN2
8methylmalonic acidemia30.4MTR, MMADHC, MMACHC, HMGCL, TCN2
9stroke, ischemic30.4SERPINC1, MTHFR
10adrenoleukodystrophy30.3OTC, ABCD4
11coronary artery disease30.3CBS, MTR, MTHFR, MTRR
12hepatocellular carcinoma30.3BHMT, MAT1A, CBS, OTC
13homocysteinemia30.3MTHFR, MTR, CBS
14vascular disease30.2CBS, SERPINC1
15vitamin b12 deficiency30.2MTHFR, MTR, TCN2
16pulmonary embolism30.2MTHFR, CBS, SERPINC1
17homocystinuria due to mthfr deficiency30.2MTHFR, MTR
18hyperhomocysteinemia30.2MTRR, MTHFR, MTR, BHMT, CBS, SERPINC1
19phenylketonuria30.1BTD, OTC, PTS, ADSL
20cerebrovascular disease30.0CBS, MTR, MTHFR
21lens subluxation29.9SUOX
22galactosemia29.9SERPINC1
23hepatitis29.9OTC
24thrombophilia29.9SERPINC1, CBS, MTHFR
25maple syrup urine disease29.9OTC, HMGCL, BTD
26protein c deficiency29.9SERPINC1, MTHFR
27chronic kidney failure29.9TCN2, BHMT, MTR, MTHFR
28obesity29.8PTS, CBS
29alzheimer's disease29.8MTR, CBS, PTS
30lupus erythematosus29.8SERPINC1
31deficiency anemia29.7TCN2, MTR
32hypertension29.7MTHFR
33hypermethioninemia29.7MAT1A, CBS
34antithrombin iii deficiency29.7MTHFR, SERPINC1
35dementia29.7MTR, CBS
36atherosclerosis29.7SERPINC1, PTS, CBS, MTR, MTHFR
37arteriosclerosis29.7MTHFR
38congenital heart defect29.7MTHFR
39placental abruption29.7MTHFR, SERPINC1
40peripheral vascular disease29.7MTHFR, CBS
41brain disease29.7BTD, OTC, ADSL
42cadasil29.7MTHFR, MTR, CBS, OTC, SERPINC1
43methylmalonic aciduria and homocystinuria type cblc10.5
44methylmalonic aciduria and homocystinuria type cblf10.4
45homocystinuria caused by cystathionine beta-synthase deficiency10.3
46homocysteinemia due to mthfr deficiency10.3
47methylmalonic acidemia with homocystinuria10.3
48generalized atherosclerosis10.3
49carotid artery dissection10.3
50homocystinuria, b6-responsive and nonresponsive types10.3

Graphical network of the top 20 diseases related to Homocystinuria:



Diseases related to homocystinuria

Clinical Features for Homocystinuria

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Drugs & Therapeutics for Homocystinuria

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Homocystinuria

Drug clinical trials:

Search ClinicalTrials for Homocystinuria

Search NIH Clinical Center for Homocystinuria

Search CenterWatch for Homocystinuria

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Homocystinuria

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22GTR
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Genetic tests related to Homocystinuria:

id Genetic test Affiliating Genes
1 Homocystinuria22

Anatomical Context for Homocystinuria

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32MalaCards
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MalaCards organs/tissues related to Homocystinuria:

32
Eye, Bone, Liver, Testes, Skin, Endothelial, Brain, Lung, Heart, Small intestine, Smooth muscle, Breast, Monocytes, Bone marrow

Animal Models for Homocystinuria or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Homocystinuria:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.7MAT1A, CBS, HMGCL, OTC, SERPINC1, BHMT
2MP:00053769.0SERPINC1, MTRR, MTHFR, MTR, BHMT, MAT1A

Publications for Homocystinuria

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50PubMed
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Articles related to Homocystinuria:

(show top 50)    (show all 508)
idTitleAuthorsYear
1
Anaesthetic management of a young patient with homocystinuria. (23146854)
2012
2
Spontaneous perforation of the small intestine, a novel manifestation of classical homocystinuria in an adult with new cystathionine beta-synthetase gene mutations. (21661368)
2011
3
Inherited metabolic disorders and stroke part 2: homocystinuria, organic acidurias, and urea cycle disorders. (20142522)
2010
4
A novel mutation of cystathionine beta-synthase gene in a Thai boy with homocystinuria. (20051935)
2009
5
Gemcitabine and carboplatin chemotherapy safely administered to a patient with homocystinuria. (17409885)
2006
6
The effect of in vitro homocystinuria on the suckling rat hippocampal acetylcholinesterase. (16773467)
2006
7
Assessment of visual function in children with methylmalonic aciduria and homocystinuria. (15944903)
2005
8
Postoperative secondary glaucoma and anterior staphyloma in a patient with homocystinuria. (16121557)
2005
9
Classical homocystinuria: vascular risk and its prevention. (12889665)
2003
10
CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families. (12555939)
2002
11
Homocystinuria with transverse sinus thrombosis. (11575612)
2001
12
Homocystinuria with generalized chorea and other movement disorders: a case report]. (10934725)
2000
13
Homocystinuria with congenital/developmental cataract. (11105422)
2000
14
Decreased circulating plasma lipids in patients with homocystinuria. (10384378)
1999
15
Multifocal bursitis in a patient with homozygous homocystinuria. (10234614)
1999
16
MR imaging in a patient with homocystinuria. (9763011)
1998
17
Acute life-threatening event with rhabdomyolysis after starting on high-dose pyridoxine therapy in an infant with homocystinuria. (9700609)
1998
18
Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223 + 37 del99. (9266356)
1997
19
Irreversible inhibition of lysyl oxidase by homocysteine thiolactone and its selenium and oxygen analogues. Implications for homocystinuria. (9405445)
1997
20
Homocystinuria--biochemical, clinical and genetic aspects]. (9297049)
1997
21
Platelet and monocyte variables in homocystinuria due to cystathionine-beta-synthase deficiency. (9175326)
1997
22
Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC). (9266389)
1997
23
Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria. (9361025)
1997
24
Homocystinuria and transsexualism. (8622374)
1996
25
Rapid diagnosis of homocystinuria and other hypermethioninemias from newborns' blood spots by tandem mass spectrometry. (8598094)
1996
26
A successful pregnancy in a patient with homocystinuria and a previous near-fatal postpartum cavernous sinus thrombosis. (7547770)
1995
27
Baclofen in the treatment of polymyoclonus and ataxia in a patient with homocystinuria. (7594264)
1995
28
Abnormally high thromboxane biosynthesis in homozygous homocystinuria. Evidence for platelet involvement and probucol-sensitive mechanism. (8376592)
1993
29
Gastrointestinal involvement in homocystinuria. (8439664)
1993
30
Two sisters with generalized dystonia associated with homocystinuria. (2057008)
1991
31
Quasi-moyamoya disease and heterozygosity for homocystinuria in a five-year-old girl. (2359484)
1990
32
Carriership for homocystinuria in juvenile vascular disease. (2680810)
1989
33
Folates and homocystinuria. (3148077)
1988
34
A closer look at the eye in homocystinuria: a screened population. (3141710)
1988
35
Vitamin B12-responsive neonatal megaloblastic anemia and homocystinuria with associated reduced methionine synthase activity. (3828532)
1987
36
Newborn screening for homocystinuria. (3462559)
1986
37
Selenium depletion and its correction in a child with homocystinuria. (16831745)
1986
38
Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency. (6381059)
1984
39
Homocystinuria--the effects of betaine in the treatment of patients not responsive to pyridoxine. (6877313)
1983
40
Diet-responsive proconvertin (factor VII) deficiency in homocystinuria. (6842332)
1983
41
Kinetics and distribution of 111Indium-labeled platelets in patients with homocystinuria. (7110243)
1982
42
Homocystinuria: need for early diagnosis and therapy. (7113404)
1982
43
Evaluation of a kit for assessing cystinuria and homocystinuria. (7055923)
1982
44
Maternal homocystinuria: studies of an untreated mother and fetus. (7436540)
1980
45
Comprehensive dental treatment under general anesthesia for patients with homocystinuria. (6931838)
1980
46
Congenital methylmalonic aciduria--homocystinuria with megaloblastic anemia: observations on response to hydroxocobalamin and on the effect of homocysteine and methionine on the deoxyuridine suppression test. (7357085)
1980
47
Homocystinuria--a surgical and anaesthetic risk. (7206911)
1980
48
Homocystinuria and the passing of the one gene-one enzyme concept of disease. (754376)
1978
49
Morphologic studies in a patient with homocystinuria due to 5, 10-methylenetetrahydrofolate reductase deficiency. (1272636)
1976
50
Cystathioninuria and homocystinuria. (1122632)
1975

Genetic Variations for Homocystinuria

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Expression for genes affiliated with Homocystinuria

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Homocystinuria

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Pathways for genes affiliated with Homocystinuria

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37NCBI BioSystems Database, 53Reactome, 49PharmGKB, 29KEGG, 12EMD Millipore
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Pathways related to Homocystinuria according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3CBS, MTR
2
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10.3MTR, MTHFR
310.2MTR, BHMT
410.2CBS, MTR, MTHFR
5
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10.1MTRR, CBS, MTHFR, MTR
6
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10.1CBS, MAT1A, MTR, MTRR
710.0BTD, MMACHC, LMBRD1, TCN2
8
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9.9SUOX, CBS, BHMT, MTR, MAT1A
9
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9.9MTHFR, MAT1A, CBS, MTR, OTC
109.9MMACHC, MMADHC, MTR, MTRR, TCN2, LMBRD1
11
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9.8MTR, BHMT, MAT1A, SUOX, MTRR, CBS
12
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9.8MTRR, MAT1A, BHMT, MTR, TCN2, MTHFR
139.7MTRR, MTR, BHMT, MAT1A, CBS, OTC
14
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9.7MTRR, MTHFR, MTR, MAT1A, CBS, BTD
15
Hide members
9.7LMBRD1, MTRR, MTHFR, MTR, BTD, MMADHC
16
Hide members
9.5MMADHC, MMACHC, LMBRD1, HMGCL, TCN2, OTC

Compounds for genes affiliated with Homocystinuria

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44Novoseek, 24HMDB, 11DrugBank, 49PharmGKB
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Compounds related to Homocystinuria according to GeneCards/GeneDecks:

(show all 48)
idCompoundScoreTop Affiliating Genes
1methyl-group4410.6MTR, MTHFR
2corrinoid4410.6TCN2, MTR
3cob(ii)alamin44 2411.6MTR, MTRR
45,10-methenyltetrahydrofolate4410.6MTHFR, MTR, CBS
5adenosylcobalamin44 2411.5MTHFR, MTR, TCN2
6tetrahydrofolate4410.5MTRR, MTHFR, MTR
7pterin44 2411.5PTS, SUOX, MTR
8b vitamins4410.5MTRR, MTHFR, MTR, CBS
95-methyltetrahydrofolate44 1111.5CBS, MTR, MTHFR, MTRR
10riboflavin44 11 2412.5BHMT, MTHFR, MTRR
11Pyridoxine11 2411.5MTHFR, CBS
12pyridoxal 5-phosphate4410.5MTHFR, MTR, CBS
13ornithine44 2411.5MTR, OTC, ADSL
14multivitamin4410.4BTD, MTHFR
15L-Methionine11 2411.4MAT1A, BHMT, MTR, MTRR
16cobalt44 2411.4MTR, MAT1A, MMACHC, TCN2
17sarcosine44 2411.4BTD, CBS
1810-formyltetrahydrofolate4410.4MTR, MTHFR
19methylcobalamin44 2411.4MTRR, MTHFR, MTR, CBS, TCN2
20cyanocobalamin49 11 2412.4MTRR, MTHFR, MTR, MMACHC, TCN2
21hydroxocobalamin44 1111.4MTRR, MTHFR, MTR, MMACHC, TCN2
22methylmalonic acid44 2411.4TCN2, CBS, MTR, MTHFR, MTRR
23thymidylate4410.4MTRR, MTHFR, MTR, CBS
24betaine44 2411.4MTRR, MTHFR, MTR, BHMT, CBS
25s-adenosylhomocysteine44 2411.4MTRR, MTHFR, MTR, MAT1A, CBS
26purine44 2411.3MTHFR, MTR, CBS, SUOX, ADSL
27methotrexate44 49 1112.3CBS, MTR, MTHFR, MTRR
28cobalamin44 2411.3MTRR, MTHFR, MTR, CBS, MMACHC, TCN2
29ferricyanide4410.3SUOX, MTRR
30uric acid44 2411.3MTHFR, SUOX, ADSL
31s-adenosylmethionine44 11 2412.2MTRR, MTHFR, MTR, BHMT, MAT1A, CBS
32vitamin b64410.2MTHFR, MTR, BHMT, CBS, BTD, TCN2
33vitamin b124410.2MTRR, MTHFR, MTR, BHMT, CBS, MMACHC
34levodopa44 1111.2PTS, MAT1A, MTHFR
35cystathionine4410.2MTRR, MTHFR, MTR, BHMT, MAT1A, CBS
36histidine4410.2MTR, MAT1A, CBS, OTC, PTS, ADSL
37Tetrahydrofolic acid11 2411.2MTR, MTHFR
38aspartate4410.2MTRR, MTHFR, MTR, OTC, PTS
39methionine4410.1MTRR, MTHFR, MTR, BHMT, MAT1A, CBS
40creatinine4410.1MTHFR, MTR, TCN2, OTC, SERPINC1, ADSL
41valproic acid44 49 11 2413.1MTHFR, BTD, OTC
42glutamate4410.1MTRR, MTHFR, MTR, CBS, OTC, PTS
43folate4410.0MTRR, MTHFR, MTR, BHMT, MAT1A, CBS
44arginine4410.0CBS, BTD, OTC, SUOX, PTS, SERPINC1
45molybdenum44 2410.9ADSL, SUOX
46homocysteine44 2410.9SERPINC1, MTRR, MTHFR, SUOX, TCN2, CBS
47cysteine449.8MTHFR, MTR, BHMT, MAT1A, CBS, BTD
48serine449.7MTRR, MTHFR, MTR, BHMT, MAT1A, CBS

GO Terms for genes affiliated with Homocystinuria

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16Gene Ontology
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Cellular components related to Homocystinuria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:0057399.8MMACHC, HMGCL, OTC, PTS, ADSL, MMADHC
2cytosolGO:0058299.1ADSL, MTRR, MTHFR, MTR, BHMT, MAT1A

Biological processes related to Homocystinuria according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1methionine biosynthetic processGO:00908610.2BHMT, MTHFR, MTRR
2methylationGO:03225910.2MTRR, MTR, MAT1A
3response to nutrientGO:00758410.1ADSL, SERPINC1, HMGCL
4cobalamin metabolic processGO:00923510.0TCN2, LMBRD1, ABCD4, MMACHC, MMADHC, MTR
5cellular amino acid metabolic processGO:00652010.0PTS, MAT1A, MTHFR
6homocysteine metabolic processGO:05066710.0CBS, MTHFR
7sulfur amino acid metabolic processGO:00009610.0MTRR, MTR, BHMT, MAT1A, CBS, SUOX
8water-soluble vitamin metabolic processGO:0067679.9MTRR, MTHFR, MTR, BTD, MMADHC, MMACHC
9vitamin metabolic processGO:0067669.8MTRR, MTHFR, MTR, BTD, MMADHC, MMACHC
10cellular nitrogen compound metabolic processGO:0346419.8MTRR, MTR, BHMT, MAT1A, CBS, OTC
11small molecule metabolic processGO:0442818.9ADSL, MTR, MTHFR, MTRR, BHMT, MAT1A

Molecular functions related to Homocystinuria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1modified amino acid bindingGO:07234110.3CBS, MTHFR
2cobalamin bindingGO:03141910.0TCN2, LMBRD1, MMACHC, MTR
3homocysteine S-methyltransferase activityGO:0088989.9BHMT, MTR

Products for genes affiliated with Homocystinuria

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  • Antibodies
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  • Lysates
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Sources for Homocystinuria

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet