MCID: HMC002
MIFTS: 58

Homocystinuria malady

Rare diseases category

Summaries for Homocystinuria

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9Disease Ontology, 22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 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, calledĀ 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.Ā mutations in the cbs, mthfr, mtr, and mtrr genes cause homocystinuria, and it is inherited in anĀ 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:9 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:22 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:66 Classical Homocystinuria, also known as cystathionine beta synthase deficiency or CBS deficiency, is an... more...

Aliases & Classifications for Homocystinuria

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9Disease Ontology, 66Wikipedia, 44NIH Rare Diseases, 23GTR, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 63UMLS, 10diseasecard, 41NCIt, 36MeSH, 59SNOMED-CT
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Classifications:

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


Aliases & Descriptions:

homocystinuria 9 66 44 23 22 11 46 63
cystathionine beta synthase deficiency 9 22
cystathionine beta-synthase deficiency disease 63
cystathionine synthase deficiency 9
cystathionine beta-synthase 10
hyperhomocysteinemia 63
homocysteinemia 22
cbs deficiency 9


External Ids:

Disease Ontology9 DOID:9263
NCIt41 C84765
SNOMED-CT59 190709008, 11282001
MeSH36 D006712

Related Diseases for Homocystinuria

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18GeneCards, 19GeneDecks
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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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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 UMLS63/NDF-RT42:

Genetic Tests for Homocystinuria

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23GTR
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Genetic tests related to Homocystinuria:

id Genetic test Affiliating Genes
1 Homocystinuria23

Anatomical Context for Homocystinuria

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34MalaCards
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MalaCards organs/tissues related to Homocystinuria:

34
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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53PubMed
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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, 16Gene 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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51PathCards, 39NCBI BioSystems Database, 56Reactome, 31KEGG, 52PharmGKB, 61Thomson 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 degradation39
9.8CBS, MTR
29.5MTHFR, CBS
3
Show member pathways
Vitamin B12 Metabolism39
9.4MTRR, MTHFR
4
Show member pathways
L-cysteine degradation I39
2-oxoisovalerate decarboxylation to isobutanoyl-CoA39
cysteine biosynthesis III (mammalia)39
2-oxobutanoate degradation I39
9.3CBS, SUOX
5
Show member pathways
thioredoxin pathway39
9.2MTR, MTHFR, CBS
6
Show member pathways
L-serine degradation39
pentose phosphate pathway (oxidative branch)39
formaldehyde oxidation II (glutathione-dependent)39
9.2MTR, MTHFR, CBS
78.8LMBRD1, MMACHC, TCN2, BTD
8
Show member pathways
creatine-phosphate biosynthesis39
glycine degradation (creatine biosynthesis)39
putrescine biosynthesis III39
spermidine biosynthesis I39
tryptophan degradation via kynurenine39
spermine biosynthesis39
urea cycle39
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I39
tyrosine degradation I39
L-carnitine biosynthesis39
methylthiopropionate biosynthesis39
2-oxoglutarate decarboxylation to succinyl-CoA39
S-methyl-5-thioadenosine degradation II39
8.5SUOX, CBS, MTRR, MTR
9
Show member pathways
8.5MTR, MTRR, CBS, SUOX
10
Show member pathways
One Carbon Metabolism39
dTMP de novo biosynthesis (mitochondrial)39
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate39
Trans-sulfuration and one carbon metabolism39
methionine salvage39
Methionine metabolism61
8.2CBS, TCN2, MTHFR, MTRR, MTR
117.1LMBRD1, MMADHC, MMACHC, TCN2, MTHFR, MTRR
12
Show member pathways
flavin biosynthesis IV (mammalian)39
molybdenum cofactor biosynthesis39
coenzyme A biosynthesis39
thiamin salvage III39
alanine biosynthesis III39
thio-molybdenum cofactor biosynthesis39
biotin-carboxyl carrier protein assembly39
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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46Novoseek, 25HMDB, 12DrugBank, 52PharmGKB
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Compounds related to Homocystinuria according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1cob(ii)alamin46 2511.1MTR, MTRR
2Cob(I)alamin2510.0MTR, MTRR
3corrinoid469.9MTR, TCN2
4sarcosine46 2510.9BTD, CBS
5L-Methionine25 1210.9MTRR, MTR
65-Methyltetrahydrofolic acid259.9MTHFR, MTR
7methyl-group469.9MTHFR, MTR
8Pyridoxine25 1210.9CBS, MTHFR
9vitamin b-complex, plain529.8MTHFR, MTRR
10imidazole469.8MTR, CBS
1110-formyltetrahydrofolate469.8MTR, MTHFR
12benazepril46 52 1211.8MTHFR, MTR
13Tetrahydrofolic acid25 1210.7MTHFR, MTR
14flavin469.7MTR, MTRR
15multivitamin469.7BTD, MTHFR
16cobalt46 2510.7MTR, TCN2, MMACHC
17folic acid52 25 1211.6MTRR, MTHFR
185,10-methenyltetrahydrofolate469.6CBS, MTHFR, MTR
19riboflavin46 25 1211.6MTRR, MTHFR
20pterin46 2510.5SUOX, MTR
21pyridoxal 5-phosphate469.5CBS, MTHFR, MTR
22tetrahydrofolate469.5MTR, MTRR, MTHFR
23ferricyanide469.4MTRR, SUOX
24adenosylcobalamin46 2510.4TCN2, MTHFR, MTR
25FAD259.3MTHFR, MTRR, MTR
26sulfur469.2SUOX, CBS
27copper46 2510.2MTR, CBS, SUOX
28b vitamins469.2MTR, MTRR, MTHFR, CBS
29dihydrofolate469.2MTR, MTHFR
305-methyltetrahydrofolate46 1210.2MTR, MTRR, MTHFR, CBS
31betaine46 2510.2CBS, MTHFR, MTRR, MTR
32s-adenosylhomocysteine46 2510.2CBS, MTHFR, MTRR, MTR
33thymidylate469.1MTR, MTRR, MTHFR, CBS
34s-adenosylmethionine46 25 1211.1CBS, MTHFR, MTRR, MTR
35methotrexate52 46 1211.1CBS, MTHFR, MTRR, MTR
36glutamate468.8CBS, MTHFR, MTRR, MTR
37purine46 259.7SUOX, CBS, MTHFR, MTR
38cyanocobalamin52 25 1210.7MMACHC, TCN2, MTHFR, MTRR, MTR
39hydroxocobalamin46 129.7MMACHC, TCN2, MTHFR, MTRR, MTR
40methylcobalamin46 259.7CBS, TCN2, MTHFR, MTRR, MTR
41cystathionine468.7CBS, TCN2, MTHFR, MTRR, MTR
42methylmalonic acid46 259.7CBS, TCN2, MTHFR, MTRR, MTR
43folate468.6CBS, TCN2, MTHFR, MTRR, MTR
44methionine468.6CBS, TCN2, MTHFR, MTRR, MTR
45vitamin b6468.5CBS, TCN2, MTHFR, MTR, BTD
46cobalamin46 259.4MTR, MTRR, MTHFR, TCN2, CBS, MMACHC
47vitamin b12468.4MMACHC, CBS, TCN2, MTHFR, MTRR, MTR
48cysteine468.1SUOX, CBS, MTHFR, MTR, BTD
49homocysteine46 258.8SUOX, CBS, TCN2, MTHFR, MTRR, MTR
50serine467.7SUOX, CBS, MTHFR, MTRR, MTR, BTD

GO Terms for genes affiliated with Homocystinuria

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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet