Aliases & Classifications for Homocystinuria

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Homocystinuria, Aliases & Descriptions:

Name: Homocystinuria 9 63 41 21 11 43 22 60
Cystathionine Beta Synthase Deficiency 9 21
Homocysteinemia 21 60
Cystathionine Beta-Synthase Deficiency Disease 60
 
Cystathionine Synthase Deficiency 9
Cystathionine Beta-Synthase 10
Cbs Deficiency 9


Classifications:

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


External Ids:

Disease Ontology9 DOID:9263
MeSH33 D006712
SNOMED-CT55 190709008, 11282001
NCIt38 C84765

Summaries for Homocystinuria

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NIH Rare Diseases:41 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 congenital heart disease and down syndrome. 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, bone and liver.

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: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...

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 154)
idRelated DiseaseScoreTop Affiliating Genes
1congenital heart disease30.8MTR, CBS
2down syndrome30.7MTRR, MTHFR, CBS, MTR
3myelomeningocele30.6CBS, MTHFR
4cleft lip30.6MTR, MTRR, MTHFR
5lens subluxation30.5SUOX
6homocysteinemia due to mthfr deficiency30.5MTR, MTHFR
7methylmalonic acidemia30.4TCN2, MTHFR, MTR
8coronary artery disease30.4MTHFR, MTR, CBS
9megaloblastic anemia30.3MTRR, MTR, TCN2, MTHFR
10cerebrovascular disease30.2CBS, MTR, MTHFR
11homocysteinemia30.2MTR, CBS, MTHFR
12vascular disease30.2MTR, MTHFR, MTRR, CBS
13thrombophilia30.1CBS, MTHFR
14hyperhomocysteinemia30.1CBS, MTRR, MTR, MTHFR
15myocardial infarction30.0CBS, MTHFR, MTR
16vitamin b12 deficiency30.0MTR, TCN2, MTHFR
17leukemia29.9MTHFR, MTR, TCN2, CBS
18neural tube defects29.7CBS, MTHFR, MTRR, MTR
19mental retardation29.1MTR, TCN2, SUOX, CBS, BTD
20methylmalonic aciduria and homocystinuria, cblc type10.7
21methylmalonic aciduria and homocystinuria, cblf type10.6
22homocystinuria caused by cystathionine beta-synthase deficiency10.4
23homocystinuria due to cbs deficiency10.4
24methylmalonic aciduria and homocystinuria, cbld type10.4
25homocystinuria-megaloblastic anemia, cbl e type10.4
26homocystinuria, b6-responsive and nonresponsive types10.4
27methylmalonic acidemia with homocystinuria10.4
28multiple carboxylase deficiency10.3BTD
29carotid artery dissection10.3
30cerebritis10.3
31homocystinuria-megaloblastic anemia, cblg complementation type10.3
32methylmalonic aciduria and homocystinuria, cblj type10.3
33homocystinuria due to mthfr deficiency10.3
34dystonia10.3
35methylmalonicacidemia with homocystinuria cbl d10.3
36neural tube defects, folate-sensitive10.3MTRR, MTR
37hepatocellular carcinoma10.3
38alzheimer disease10.3
39adrenoleukodystrophy10.3
40megakaryocytic leukemia10.3
41pancreatic ductal adenocarcinoma10.3
42systemic onset juvenile idiopathic arthritis10.3
43febrile seizures10.3
44pancreatitis10.2
45retinitis10.2
46encephalomalacia10.2SUOX
47sagittal sinus thrombosis10.2
48artery disease10.2
49methylmalonic acidemia with homocystinuria, type cblj10.2
50methylmalonic acidemia with homocystinuria, type cblx10.2

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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Drug clinical trials:

Search ClinicalTrials for Homocystinuria

Search NIH Clinical Center for Homocystinuria

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Homocystinuria

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Genetic tests related to Homocystinuria:

id Genetic test Affiliating Genes
1 Homocystinuria22

Anatomical Context for Homocystinuria

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MalaCards organs/tissues related to Homocystinuria:

31
Eye, Bone, Liver, Skin, Testes, Brain, Endothelial, Heart, Lung, Bone marrow, Smooth muscle, Small intestine, Kidney, Breast, Monocytes

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 528)
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
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
4
Transient ischemic attack in a child with homocystinuria. (23248707)
2012
5
Homocystinuria masquerading as vitamin B12 deficiency. (22864044)
2012
6
From apneic spells to the development of hypertensive hydrocephalus: a case report of homocystinuria with early onset. (19509410)
2010
7
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
8
Different phenotypy in three siblings with homocystinuria. (19430269)
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
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 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
cysteine biosynthesis/homocysteine degradation36
9.8MTR, CBS
29.5CBS, MTHFR
3
Show member pathways
Vitamin B12 Metabolism36
9.4MTRR, MTHFR
4
Show member pathways
L-cysteine degradation I36
2-oxoisovalerate decarboxylation to isobutanoyl-CoA36
cysteine biosynthesis III (mammalia)36
2-oxobutanoate degradation I36
9.3CBS, SUOX
5
Show member pathways
thioredoxin pathway36
9.2MTHFR, MTR, CBS
6
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
9.2MTR, MTHFR, CBS
78.8BTD, TCN2, MMACHC, LMBRD1
8
Show member pathways
creatine-phosphate biosynthesis36
glycine degradation (creatine biosynthesis)36
putrescine biosynthesis III36
spermidine biosynthesis I36
tryptophan degradation via kynurenine36
spermine biosynthesis36
urea cycle36
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I36
tyrosine degradation I36
L-carnitine biosynthesis36
methylthiopropionate biosynthesis36
2-oxoglutarate decarboxylation to succinyl-CoA36
S-methyl-5-thioadenosine degradation II36
8.5MTRR, SUOX, MTR, CBS
9
Show member pathways
8.5MTR, MTRR, SUOX, CBS
10
Show member pathways
One Carbon Metabolism36
dTMP de novo biosynthesis (mitochondrial)36
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate36
Trans-sulfuration and one carbon metabolism36
methionine salvage36
Methionine metabolism58
8.2MTRR, MTHFR, TCN2, CBS, MTR
117.1TCN2, MMACHC, MMADHC, LMBRD1, MTHFR, MTR
12
Show member pathways
flavin biosynthesis IV (mammalian)36
molybdenum cofactor biosynthesis36
coenzyme A biosynthesis36
thiamin salvage III36
alanine biosynthesis III36
thio-molybdenum cofactor biosynthesis36
biotin-carboxyl carrier protein assembly36
7.1BTD, LMBRD1, MMADHC, MMACHC, TCN2, MTHFR
13
Show member pathways
6.0LMBRD1, MMADHC, MMACHC, CBS, TCN2, MTHFR

Compounds for genes affiliated with Homocystinuria

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Sources:
43Novoseek, 24HMDB, 12DrugBank, 49PharmGKB
See all sources

Compounds related to Homocystinuria according to GeneCards Suite gene sharing:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1cob(ii)alamin43 2411.1MTR, MTRR
2Cob(I)alamin2410.0MTRR, MTR
3corrinoid439.9TCN2, MTR
4sarcosine43 2410.9BTD, CBS
5L-Methionine24 1210.9MTR, MTRR
65-Methyltetrahydrofolic acid249.9MTR, MTHFR
7methyl-group439.9MTHFR, MTR
8Pyridoxine24 1210.9CBS, MTHFR
9vitamin b-complex, plain499.8MTHFR, MTRR
10imidazole439.8CBS, MTR
1110-formyltetrahydrofolate439.8MTR, MTHFR
12benazepril43 49 1211.8MTHFR, MTR
13Tetrahydrofolic acid24 1210.7MTHFR, MTR
14flavin439.7MTRR, MTR
15multivitamin439.7BTD, MTHFR
16cobalt43 2410.7MTR, TCN2, MMACHC
17folic acid49 24 1211.6MTHFR, MTRR
185,10-methenyltetrahydrofolate439.6MTHFR, CBS, MTR
19riboflavin43 24 1211.6MTHFR, MTRR
20pterin43 2410.5MTR, SUOX
21pyridoxal 5-phosphate439.5MTR, MTHFR, CBS
22tetrahydrofolate439.5MTR, MTHFR, MTRR
23ferricyanide439.4SUOX, MTRR
24adenosylcobalamin43 2410.4MTHFR, MTR, TCN2
25FAD249.3MTR, MTHFR, MTRR
26sulfur439.2SUOX, CBS
27copper43 2410.2CBS, SUOX, MTR
28b vitamins439.2CBS, MTHFR, MTR, MTRR
29dihydrofolate439.2MTHFR, MTR
305-methyltetrahydrofolate43 1210.2MTR, MTRR, CBS, MTHFR
31betaine43 2410.2MTHFR, CBS, MTR, MTRR
32s-adenosylhomocysteine43 2410.2MTR, MTRR, MTHFR, CBS
33thymidylate439.1MTHFR, MTRR, MTR, CBS
34s-adenosylmethionine43 24 1211.1MTHFR, MTRR, MTR, CBS
35methotrexate49 43 1211.1MTHFR, MTRR, MTR, CBS
36glutamate438.8MTRR, CBS, MTR, MTHFR
37purine43 249.7MTHFR, CBS, SUOX, MTR
38hydroxocobalamin43 129.7MTR, MTRR, MTHFR, TCN2, MMACHC
39cyanocobalamin49 24 1210.7MTHFR, MTR, MTRR, MMACHC, TCN2
40methylcobalamin43 249.7MTR, MTRR, MTHFR, TCN2, CBS
41cystathionine438.7CBS, TCN2, MTR, MTRR, MTHFR
42methylmalonic acid43 249.7MTR, MTRR, MTHFR, TCN2, CBS
43folate438.6MTR, MTHFR, MTRR, TCN2, CBS
44methionine438.6MTR, MTRR, MTHFR, TCN2, CBS
45vitamin b6438.5TCN2, CBS, MTHFR, MTR, BTD
46cobalamin43 249.4MTHFR, TCN2, CBS, MMACHC, MTR, MTRR
47vitamin b12438.4TCN2, MTRR, MTR, MMACHC, CBS, MTHFR
48cysteine438.1SUOX, CBS, BTD, MTR, MTHFR
49homocysteine43 248.8MTRR, MTR, MTHFR, TCN2, CBS, SUOX
50serine437.7CBS, MTHFR, MTRR, BTD, SUOX, MTR

GO Terms for genes affiliated with Homocystinuria

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Cellular components related to Homocystinuria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00058298.2MTR, MTRR, MTHFR, CBS, MMACHC, MMADHC

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1methylationGO:00322599.7MTR, MTRR
2homocysteine metabolic processGO:00506679.6CBS, MTHFR
3methionine biosynthetic processGO:00090869.4MTRR, MTHFR
4folic acid metabolic processGO:00466559.3MTRR, MTHFR
5response to folic acidGO:00515939.2MTHFR, CBS
6sulfur amino acid metabolic processGO:00000968.7MTRR, CBS, SUOX, MTR
7cellular nitrogen compound metabolic processGO:00346418.7SUOX, CBS, MTRR, MTR
8cobalamin metabolic processGO:00092358.0ABCD4, MTR, MTRR, TCN2, MMACHC, MMADHC
9water-soluble vitamin metabolic processGO:00067677.3MTHFR, TCN2, MMACHC, MMADHC, LMBRD1, MTRR
10vitamin metabolic processGO:00067667.3MTR, LMBRD1, MMADHC, MMACHC, TCN2, MTHFR
11small molecule metabolic processGO:00442816.1MMADHC, MMACHC, CBS, MTHFR, MTRR, BTD

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

idNameGO IDScoreTop Affiliating Genes
1flavin adenine dinucleotide bindingGO:00506609.4MTRR, MTHFR
2modified amino acid bindingGO:00723419.4MTHFR, CBS
3NADP bindingGO:00506619.1MTRR, MTHFR
4cobalamin bindingGO:00314198.9MTR, TCN2, MMACHC, LMBRD1

Products for genes affiliated with Homocystinuria

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Sources for Homocystinuria

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet