MCID: HMC002
MIFTS: 59

Homocystinuria malady

Rare diseases, Metabolic diseases categories

Summaries for Homocystinuria

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

Aliases & Classifications for Homocystinuria

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Homocystinuria, Aliases & Descriptions:

Name: Homocystinuria 9 64 42 23 22 11 44 61
Cystathionine Beta Synthase Deficiency 9 22
Cystathionine Synthase Deficiency 9 61
Homocysteinemia 22 61
 
Cystathionine Beta-Synthase Deficiency Disease 61
Cystathionine Beta-Synthase 10
Cbs Deficiency 9


Classifications:

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


External Ids:

Disease Ontology9 DOID:9263
NCIt39 C84765
SNOMED-CT56 11282001, 190709008
MeSH34 D006712

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/GeneDecks gene sharing:

(show top 50)    (show all 165)
idRelated DiseaseScoreTop Affiliating Genes
1congenital heart disease30.8MTR, CBS
2down syndrome30.7MTRR, MTHFR, CBS, MTR
3myelomeningocele30.6CBS, MTHFR
4cleft lip30.6MTR, MTRR, MTHFR
5methylmalonic acidemia30.5TCN2, MTHFR, MTR
6lens subluxation30.5SUOX
7cleft palate30.4MTR, MTHFR
8megaloblastic anemia30.3MTRR, MTR, TCN2, MTHFR
9thromboembolism30.2MTHFR, MTR, CBS
10homocysteinemia30.2MTR, CBS, MTHFR
11thrombophilia30.1CBS, MTHFR
12hyperhomocysteinemia30.1CBS, MTRR, MTR, MTHFR
13homocysteinemia due to mthfr deficiency30.1MTR, MTHFR
14venous thrombosis30.1CBS, MTHFR, MTR
15vascular disease30.1MTR, MTHFR, MTRR, CBS
16cerebrovascular disease30.1MTR, CBS, MTHFR
17myocardial infarction30.0CBS, MTHFR, MTR
18vitamin b12 deficiency30.0MTR, TCN2, MTHFR
19leukemia29.9MTHFR, MTR, TCN2, CBS
20neural tube defects29.3MTRR, TCN2, MTHFR, MTR, CBS
21mental retardation29.1MTR, TCN2, SUOX, CBS, BTD
22methylmalonic aciduria and homocystinuria type cblf10.5
23methylmalonic acidemia and homocystinuria cblc type10.5
24homocystinuria caused by cystathionine beta-synthase deficiency10.4
25multiple carboxylase deficiency10.4BTD
26carotid artery dissection10.3
27venous thromboembolism10.3
28cerebritis10.3
29homocystinuria, b6-responsive and nonresponsive types10.3
30dystonia10.3
31homocystinuria due to cbs deficiency10.3
32methylmalonic acidemia with homocystinuria10.3
33cble10.3
34neural tube defects, folate-sensitive10.3MTRR, MTR
35adrenoleukodystrophy10.3
36hepatocellular carcinoma10.3
37megakaryocytic leukemia10.3
38ovarian cancer10.3
39febrile seizures10.3
40encephalomalacia10.2SUOX
41methylmalonic aciduria and homocystinuria type cblc10.2
42pancreatitis10.2
43retinitis10.2
44homocystinuria, cbld type, variant 110.2
45homocystinuria-megaloblastic anemia, cbl e type10.2
46methylmalonic aciduria and homocystinuria, cblj type10.2
47methylmalonic aciduria and homocystinuria type cbld10.2
48sagittal sinus thrombosis10.2
49artery disease10.2
50methylmalonicacidemia with homocystinuria cbl d10.2

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 UMLS61/NDF-RT40:

Genetic Tests for Homocystinuria

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Genetic tests related to Homocystinuria:

id Genetic test Affiliating Genes
1 Homocystinuria23

Anatomical Context for Homocystinuria

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MalaCards organs/tissues related to Homocystinuria:

32
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 515)
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
Birth prevalence of homocystinuria. (15192637)
2004
15
Cerebral edema associated with betaine treatment in classical homocystinuria. (15069409)
2004
16
CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families. (12555939)
2002
17
Sagittal sinus thrombosis in a teenager: homocystinuria associated with reversible antithrombin deficiency. (12162390)
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
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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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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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 degradation37
9.8CBS, MTR
29.5MTHFR, CBS
3
Show member pathways
Vitamin B12 Metabolism37
9.4MTRR, MTHFR
4
Show member pathways
L-cysteine degradation I37
2-oxoisovalerate decarboxylation to isobutanoyl-CoA37
cysteine biosynthesis III (mammalia)37
2-oxobutanoate degradation I37
9.3CBS, SUOX
5
Show member pathways
thioredoxin pathway37
9.2MTR, MTHFR, CBS
6
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
9.2MTR, MTHFR, CBS
78.8LMBRD1, MMACHC, TCN2, BTD
8
Show member pathways
creatine-phosphate biosynthesis37
glycine degradation (creatine biosynthesis)37
putrescine biosynthesis III37
spermidine biosynthesis I37
tryptophan degradation via kynurenine37
spermine biosynthesis37
urea cycle37
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I37
tyrosine degradation I37
L-carnitine biosynthesis37
methylthiopropionate biosynthesis37
2-oxoglutarate decarboxylation to succinyl-CoA37
S-methyl-5-thioadenosine degradation II37
8.5SUOX, CBS, MTRR, MTR
9
Show member pathways
8.5MTR, MTRR, CBS, SUOX
10
Show member pathways
One Carbon Metabolism37
dTMP de novo biosynthesis (mitochondrial)37
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate37
Trans-sulfuration and one carbon metabolism37
methionine salvage37
Methionine metabolism59
8.2CBS, TCN2, MTHFR, MTRR, MTR
117.1LMBRD1, MMADHC, MMACHC, TCN2, MTHFR, MTRR
12
Show member pathways
flavin biosynthesis IV (mammalian)37
molybdenum cofactor biosynthesis37
coenzyme A biosynthesis37
thiamin salvage III37
alanine biosynthesis III37
thio-molybdenum cofactor biosynthesis37
biotin-carboxyl carrier protein assembly37
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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Sources:
44Novoseek, 25HMDB, 12DrugBank, 50PharmGKB
See all sources

Compounds related to Homocystinuria according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1cob(ii)alamin44 2511.1MTR, MTRR
2Cob(I)alamin2510.0MTRR, MTR
3corrinoid449.9TCN2, MTR
4sarcosine44 2510.9BTD, CBS
5L-Methionine25 1210.9MTR, MTRR
65-Methyltetrahydrofolic acid259.9MTR, MTHFR
7methyl-group449.9MTHFR, MTR
8Pyridoxine25 1210.9CBS, MTHFR
9vitamin b-complex, plain509.8MTHFR, MTRR
10imidazole449.8CBS, MTR
1110-formyltetrahydrofolate449.8MTR, MTHFR
12benazepril44 50 1211.8MTHFR, MTR
13Tetrahydrofolic acid25 1210.7MTHFR, MTR
14flavin449.7MTRR, MTR
15multivitamin449.7BTD, MTHFR
16cobalt44 2510.7MTR, TCN2, MMACHC
17folic acid50 25 1211.6MTHFR, MTRR
185,10-methenyltetrahydrofolate449.6MTHFR, CBS, MTR
19riboflavin44 25 1211.6MTHFR, MTRR
20pterin44 2510.5MTR, SUOX
21pyridoxal 5-phosphate449.5MTR, MTHFR, CBS
22tetrahydrofolate449.5MTR, MTHFR, MTRR
23ferricyanide449.4SUOX, MTRR
24adenosylcobalamin44 2510.4MTHFR, MTR, TCN2
25FAD259.3MTR, MTHFR, MTRR
26sulfur449.2SUOX, CBS
27copper44 2510.2CBS, SUOX, MTR
28b vitamins449.2CBS, MTHFR, MTR, MTRR
29dihydrofolate449.2MTHFR, MTR
305-methyltetrahydrofolate44 1210.2MTR, MTRR, CBS, MTHFR
31betaine44 2510.2MTHFR, CBS, MTR, MTRR
32s-adenosylhomocysteine44 2510.2MTR, MTRR, MTHFR, CBS
33thymidylate449.1MTHFR, MTRR, MTR, CBS
34s-adenosylmethionine44 25 1211.1MTHFR, MTRR, MTR, CBS
35methotrexate50 44 1211.1MTHFR, MTRR, MTR, CBS
36glutamate448.8MTRR, CBS, MTR, MTHFR
37purine44 259.7MTHFR, CBS, SUOX, MTR
38hydroxocobalamin44 129.7MTR, MTRR, MTHFR, TCN2, MMACHC
39cyanocobalamin50 25 1210.7MTHFR, MTR, MTRR, MMACHC, TCN2
40methylcobalamin44 259.7MTR, MTRR, MTHFR, TCN2, CBS
41cystathionine448.7CBS, TCN2, MTR, MTRR, MTHFR
42methylmalonic acid44 259.7MTR, MTRR, MTHFR, TCN2, CBS
43folate448.6MTR, MTHFR, MTRR, TCN2, CBS
44methionine448.6MTR, MTRR, MTHFR, TCN2, CBS
45vitamin b6448.5TCN2, CBS, MTHFR, MTR, BTD
46cobalamin44 259.4MTHFR, TCN2, CBS, MMACHC, MTR, MTRR
47vitamin b12448.4TCN2, MTRR, MTR, MMACHC, CBS, MTHFR
48cysteine448.1SUOX, CBS, BTD, MTR, MTHFR
49homocysteine44 258.8MTRR, MTR, MTHFR, TCN2, CBS, SUOX
50serine447.7CBS, MTHFR, MTRR, BTD, SUOX, MTR

GO Terms for genes affiliated with Homocystinuria

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Cellular components related to Homocystinuria according to GeneCards/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
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet