MCID: HMC002
MIFTS: 58

Homocystinuria malady

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Summaries for Homocystinuria

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8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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 congenital heart disease. 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 Folate-Alcohol and Cancer Pathway. The drugs betaine and betaine hydrochloride and the compounds cob(ii)alamin and Cob(I)alamin have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and testes.

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:65 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, 65Wikipedia, 43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 62UMLS, 9diseasecard, 40NCIt, 35MeSH, 58SNOMED-CT
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Aliases & Descriptions:

homocystinuria 8 65 43 22 21 10 45 62
cystathionine beta synthase deficiency 8 21
cystathionine beta-synthase deficiency disease 62
cystathionine synthase deficiency 8
cystathionine beta-synthase 9
hyperhomocysteinemia 62
homocysteinemia 21
cbs deficiency 8


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Disease Ontology8 DOID:9263
NCIt40 C84765
SNOMED-CT58 190709008, 11282001
MeSH35 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 162)
idRelated DiseaseScoreTop Affiliating Genes
1down syndrome30.8CBS, MTHFR, MTRR, MTR
2congenital heart disease30.6MTR, CBS
3homocysteinemia due to mthfr deficiency30.6MTHFR, MTR
4cleft lip30.6MTHFR, MTRR, MTR
5megaloblastic anemia30.5TCN2, MTHFR, MTRR, MTR
6methylmalonic acidemia30.5MTR, MTHFR, TCN2
7leukemia30.4MTR, MTHFR, TCN2, CBS
8myelomeningocele30.4MTHFR, CBS
9cleft palate30.4MTR, MTHFR
10coronary artery disease30.4CBS, MTHFR, MTR
11vascular disease30.3CBS, MTHFR, MTRR, MTR
12hyperhomocysteinemia30.2MTR, MTRR, MTHFR, CBS
13lens subluxation30.1SUOX
14cerebrovascular disease30.1MTR, MTHFR, CBS
15myocardial infarction30.1MTR, MTHFR, CBS
16homocysteinemia30.0MTR, MTHFR, CBS
17thrombophilia30.0CBS, MTHFR
18thromboembolism30.0MTR, MTHFR, CBS
19venous thrombosis30.0MTR, MTHFR, CBS
20vitamin b12 deficiency30.0TCN2, MTHFR, MTR
21neural tube defects29.7MTR, MTRR, MTHFR, TCN2, CBS
22mental retardation29.6SUOX, CBS, TCN2, MTR, BTD
23methylmalonic acidemia and homocystinuria cblc type10.5
24methylmalonic aciduria and homocystinuria type cblf10.4
25homocystinuria caused by cystathionine beta-synthase deficiency10.4
26carotid artery dissection10.3
27venous thromboembolism10.3
28homocystinuria, b6-responsive and nonresponsive types10.3
29cerebritis10.3
30dystonia10.3
31homocystinuria due to cbs deficiency10.3
32cble10.3
33methylmalonic aciduria and homocystinuria, cblj type10.3
34megakaryocytic leukemia10.2
35adrenoleukodystrophy10.2
36hepatocellular carcinoma10.2
37ovarian cancer10.2
38febrile seizures10.2
39methylmalonic aciduria and homocystinuria type cblc10.2
40pancreatitis10.2
41retinitis10.2
42methylmalonic acidemia with homocystinuria10.2
43homocystinuria, cbld type, variant 110.2
44homocystinuria-megaloblastic anemia, cbl e type10.2
45sagittal sinus thrombosis10.2
46methylmalonic aciduria and homocystinuria type cbld10.2
47artery disease10.2
48methylmalonicacidemia with homocystinuria cbl d10.2
49homocystinuria due to mthfr deficiency10.2
50homocystinuria-megaloblastic anemia, cblg complementation type10.2

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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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Homocystinuria

Search NIH Clinical Center for Homocystinuria

Inferred drug relations via UMLS62/NDF-RT41:

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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33MalaCards
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MalaCards organs/tissues related to Homocystinuria:

33
Eye, Liver, Testes, Skin, Bone, Brain, Endothelial, Lung, Heart, Monocytes, Breast, Smooth muscle, Bone marrow, Small intestine

Animal Models for Homocystinuria or affiliated genes

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Publications for Homocystinuria

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52PubMed
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Articles related to Homocystinuria:

(show top 50)    (show all 503)
idTitleAuthorsYear
1
cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period. (23430521)
2013
2
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
3
Transient ischemic attack in a child with homocystinuria. (23248707)
2012
4
Homocystinuria masquerading as vitamin B12 deficiency. (22864044)
2012
5
From apneic spells to the development of hypertensive hydrocephalus: a case report of homocystinuria with early onset. (19509410)
2010
6
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
7
Different phenotypy in three siblings with homocystinuria. (19430269)
2009
8
Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC). (19760748)
2009
9
Methylenetetrahydrofolate reductase deficiency (homocystinuria type II) as a rare cause of rapidly progressive tetraspasticity and psychosis in a previously healthy adult. (18854913)
2008
10
Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type. (18848477)
2008
11
Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria. (16087854)
2005
12
Molecular analysis of homocystinuria in Brazilian patients. (15993874)
2005
13
Birth prevalence of homocystinuria. (15192637)
2004
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
Pyridoxine-unresponsive homocystinuria with an unusual clinical course. (2333882)
1990
35
Carriership for homocystinuria in juvenile vascular disease. (2680810)
1989
36
Screening of congenital hypothyroidism, phenylketonuria, galactosemia, homocystinuria, and maple syrup urine disease in moderate to severe mentally retarded Chinese children. (2787833)
1989
37
Postoperative dystonia in a female patient with homocystinuria. (3183844)
1988
38
The effect of oral betaine on vertebral body bone density in pyridoxine-non-responsive homocystinuria. (3148071)
1988
39
Untreated homocystinuria: a maternal death in a woman with four pregnancies. Case report. (3663536)
1987
40
Defective DNA excision repair in cells of patients with homocystinuria. (3118205)
1987
41
Hemiplegia in homocystinuria. (3793712)
1986
42
Central and peripheral nervous system pathology of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency. (2854737)
1985
43
Screening for homocystinuria. (6515533)
1984
44
Homocysteinemia, ischemic heart disease, and the carrier state for homocystinuria. (6684724)
1983
45
Immunochemical studies on cultured fibroblasts from patients with homocystinuria due to cystathionine beta-synthase deficiency. (7081217)
1982
46
Pyridoxine-responsive homocystinuria. (7012699)
1981
47
Epileptiform ocular movements with methylmalonic aciduria and homocystinuria. (7425038)
1980
48
Maternal homocystinuria: studies of an untreated mother and fetus. (7436540)
1980
49
Infantile type of homocystinuria with N5,10-methylenetetrahydrofolate reductase defect. (847745)
1977
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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Homocystinuria

Search GEO for disease gene expression data for Homocystinuria.

Pathways for genes affiliated with Homocystinuria

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50PathCards, 38NCBI BioSystems Database, 55Reactome, 30KEGG, 51PharmGKB, 60Thomson Reuters
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Pathways related to Homocystinuria according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
cysteine biosynthesis/homocysteine degradation38
9.8CBS, MTR
29.5MTHFR, CBS
3
Show member pathways
Vitamin B12 Metabolism38
9.4MTRR, MTHFR
4
Show member pathways
L-cysteine degradation I38
2-oxoisovalerate decarboxylation to isobutanoyl-CoA38
cysteine biosynthesis III (mammalia)38
2-oxobutanoate degradation I38
9.3CBS, SUOX
5
Show member pathways
thioredoxin pathway38
9.2MTR, MTHFR, CBS
6
Show member pathways
L-serine degradation38
pentose phosphate pathway (oxidative branch)38
formaldehyde oxidation II (glutathione-dependent)38
9.2MTR, MTHFR, CBS
78.8LMBRD1, MMACHC, TCN2, BTD
8
Show member pathways
creatine-phosphate biosynthesis38
glycine degradation (creatine biosynthesis)38
putrescine biosynthesis III38
spermidine biosynthesis I38
tryptophan degradation via kynurenine38
spermine biosynthesis38
urea cycle38
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I38
tyrosine degradation I38
L-carnitine biosynthesis38
methylthiopropionate biosynthesis38
2-oxoglutarate decarboxylation to succinyl-CoA38
S-methyl-5-thioadenosine degradation II38
8.5SUOX, CBS, MTRR, MTR
9
Show member pathways
8.5MTR, MTRR, CBS, SUOX
10
Show member pathways
One Carbon Metabolism38
dTMP de novo biosynthesis (mitochondrial)38
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate38
Trans-sulfuration and one carbon metabolism38
methionine salvage38
Methionine metabolism60
8.2CBS, TCN2, MTHFR, MTRR, MTR
117.1LMBRD1, MMADHC, MMACHC, TCN2, MTHFR, MTRR
12
Show member pathways
flavin biosynthesis IV (mammalian)38
molybdenum cofactor biosynthesis38
coenzyme A biosynthesis38
thiamin salvage III38
alanine biosynthesis III38
thio-molybdenum cofactor biosynthesis38
biotin-carboxyl carrier protein assembly38
7.1BTD, LMBRD1, MMADHC, MMACHC, TCN2, MTHFR
13
Show member pathways
6.0SUOX, LMBRD1, MMADHC, MMACHC, CBS, TCN2

Compounds for genes affiliated with Homocystinuria

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45Novoseek, 24HMDB, 11DrugBank, 51PharmGKB
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Compounds related to Homocystinuria according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1cob(ii)alamin45 2411.1MTR, MTRR
2Cob(I)alamin2410.0MTR, MTRR
3corrinoid459.9MTR, TCN2
4sarcosine45 2410.9BTD, CBS
5L-Methionine24 1110.9MTRR, MTR
65-Methyltetrahydrofolic acid249.9MTHFR, MTR
7methyl-group459.9MTHFR, MTR
8Pyridoxine24 1110.9CBS, MTHFR
9vitamin b-complex, plain519.8MTHFR, MTRR
10imidazole459.8MTR, CBS
1110-formyltetrahydrofolate459.8MTR, MTHFR
12benazepril45 51 1111.8MTHFR, MTR
13Tetrahydrofolic acid24 1110.7MTHFR, MTR
14flavin459.7MTR, MTRR
15multivitamin459.7BTD, MTHFR
16cobalt45 2410.7MTR, TCN2, MMACHC
17folic acid51 24 1111.6MTRR, MTHFR
185,10-methenyltetrahydrofolate459.6CBS, MTHFR, MTR
19riboflavin45 24 1111.6MTRR, MTHFR
20pterin45 2410.5SUOX, MTR
21pyridoxal 5-phosphate459.5CBS, MTHFR, MTR
22tetrahydrofolate459.5MTR, MTRR, MTHFR
23ferricyanide459.4MTRR, SUOX
24adenosylcobalamin45 2410.4TCN2, MTHFR, MTR
25FAD249.3MTHFR, MTRR, MTR
26sulfur459.2SUOX, CBS
27copper45 2410.2MTR, CBS, SUOX
28b vitamins459.2MTR, MTRR, MTHFR, CBS
29dihydrofolate459.2MTR, MTHFR
305-methyltetrahydrofolate45 1110.2MTR, MTRR, MTHFR, CBS
31betaine45 2410.2CBS, MTHFR, MTRR, MTR
32s-adenosylhomocysteine45 2410.2CBS, MTHFR, MTRR, MTR
33thymidylate459.1MTR, MTRR, MTHFR, CBS
34s-adenosylmethionine45 24 1111.1CBS, MTHFR, MTRR, MTR
35methotrexate51 45 1111.1CBS, MTHFR, MTRR, MTR
36glutamate458.8CBS, MTHFR, MTRR, MTR
37purine45 249.7SUOX, CBS, MTHFR, MTR
38cyanocobalamin51 24 1110.7MMACHC, TCN2, MTHFR, MTRR, MTR
39hydroxocobalamin45 119.7MMACHC, TCN2, MTHFR, MTRR, MTR
40methylcobalamin45 249.7CBS, TCN2, MTHFR, MTRR, MTR
41cystathionine458.7CBS, TCN2, MTHFR, MTRR, MTR
42methylmalonic acid45 249.7CBS, TCN2, MTHFR, MTRR, MTR
43folate458.6CBS, TCN2, MTHFR, MTRR, MTR
44methionine458.6CBS, TCN2, MTHFR, MTRR, MTR
45vitamin b6458.5CBS, TCN2, MTHFR, MTR, BTD
46cobalamin45 249.4MTR, MTRR, MTHFR, TCN2, CBS, MMACHC
47vitamin b12458.4MMACHC, CBS, TCN2, MTHFR, MTRR, MTR
48cysteine458.1SUOX, CBS, MTHFR, MTR, BTD
49homocysteine45 248.8SUOX, CBS, TCN2, MTHFR, MTRR, MTR
50serine457.7SUOX, CBS, MTHFR, MTRR, MTR, BTD

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
1cytosolGO:0058298.2MTR, MTRR, MTHFR, CBS, MMACHC, MMADHC

Biological processes related to Homocystinuria according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1methylationGO:0322599.7MTR, MTRR
2homocysteine metabolic processGO:0506679.5MTHFR, CBS
3methionine biosynthetic processGO:0090869.5MTRR, MTHFR
4folic acid metabolic processGO:0466559.3MTHFR, MTRR
5response to folic acidGO:0515939.2MTHFR, CBS
6sulfur amino acid metabolic processGO:0000968.7SUOX, CBS, MTRR, MTR
7cellular nitrogen compound metabolic processGO:0346418.7SUOX, CBS, MTRR, MTR
8cobalamin metabolic processGO:0092358.0MTR, MTRR, TCN2, MMACHC, MMADHC, LMBRD1
9vitamin metabolic processGO:0067667.3BTD, MTR, MTRR, MTHFR, TCN2, MMACHC
10water-soluble vitamin metabolic processGO:0067677.3MMACHC, MMADHC, LMBRD1, TCN2, MTHFR, BTD
11small molecule metabolic processGO:0442816.1MMACHC, MMADHC, LMBRD1, SUOX, CBS, TCN2

Molecular functions related to Homocystinuria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1flavin adenine dinucleotide bindingGO:0506609.4MTRR, MTHFR
2modified amino acid bindingGO:0723419.4CBS, MTHFR
3NADP bindingGO:0506619.1MTRR, MTHFR
4cobalamin bindingGO:0314198.9MTR, TCN2, MMACHC, LMBRD1

Products for genes affiliated with Homocystinuria

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Sources for Homocystinuria

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet