MCID: HMC002
MIFTS: 61

Homocystinuria malady

Summaries for Homocystinuria

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 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 cleft palate and central 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 skin, liver and brain, 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:64 Classical Homocystinuria, also known as cystathionine beta synthase deficiency or CBS deficiency, is an... more...

Aliases & Classifications for Homocystinuria

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 61UMLS, 40NCIt, 57SNOMED-CT, 35MeSH
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Aliases & Descriptions:

homocystinuria 8 64 43 22 21 10 45 61
cystathionine beta synthase deficiency 8 21
cystathionine beta-synthase deficiency disease 61
cystathionine synthase deficiency 8
cystathionine beta-synthase 9
hyperhomocysteinemia 61
homocysteinemia 21
cbs deficiency 8


External Ids:

Disease Ontology8 DOID:9263
NCIt40 C84765
SNOMED-CT57 190709008, 11282001
MeSH35 D006712

Related Diseases for Homocystinuria

Sources:
17GeneCards, 18GeneDecks
See all sources

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 260)
idRelated DiseaseScoreTop Affiliating Genes
1cleft palate30.6MTR, MTHFR
2central retinal vein occlusion30.5MTHFR
3megaloblastic anemia30.5MTRR, MTHFR, MTR, TCN2
4thromboembolism30.4MTHFR, MTR, CBS, SERPINC1
5stroke, ischemic30.4SERPINC1, MTHFR
6myelomeningocele30.3CBS, MTHFR
7alzheimer's disease30.3MTR, CBS, PTS
8adrenoleukodystrophy30.3OTC, ABCD4
9coronary artery disease,30.3CBS, MTR, MTHFR, MTRR
10mental retardation30.3MTR, CBS, BTD, TCN2, OTC, SUOX
11vascular disease30.3CBS, SERPINC1
12homocystinuria due to mthfr deficiency30.2MTHFR, MTR
13hyperhomocysteinemia30.2MTRR, MTHFR, MTR, BHMT, CBS, SERPINC1
14venous thrombosis30.1MTHFR, MTR, CBS, SERPINC1
15phenylketonuria30.1BTD, OTC, PTS, ADSL
16lens subluxation30.0SUOX
17homocysteinemia30.0MTHFR, MTR, CBS
18thrombophilia30.0SERPINC1, CBS, MTHFR
19maple syrup urine disease30.0OTC, HMGCL, BTD
20coronary heart disease29.9MTHFR, MTR, CBS, SERPINC1
21deficiency anemia29.8TCN2, MTR
22protein c deficiency29.7SERPINC1, MTHFR
23hypermethioninemia29.7MAT1A, CBS
24neural tube defects29.7MTRR, MTHFR, MTR, CBS, TCN2
25atherosclerosis29.7SERPINC1, PTS, CBS, MTR, MTHFR
26arteriosclerosis29.7MTHFR
27placental abruption29.7MTHFR, SERPINC1
28peripheral vascular disease29.7MTHFR, CBS
29brain disease29.7BTD, OTC, ADSL
30cadasil29.7MTHFR, MTR, CBS, OTC, SERPINC1
31cblc10.5
32factor v deficiency10.5
33methylmalonic aciduria and homocystinuria type cblf10.4
34t-cell leukemia10.4
35homocysteinemia due to mthfr deficiency10.4
36methylmalonic acidemia with homocystinuria10.3
37carotid artery dissection10.3
38venous thromboembolism10.3
39homocysteine plasma level10.3
40homocystinuria caused by cystathionine beta-synthase deficiency10.3
41homocystinuria, b6-responsive and nonresponsive types10.3
42methylmalonic aciduria and homocystinuria type cblc10.3
43homocystinuria due to cbs deficiency10.3
44cble10.3
45megakaryocytic leukemia10.2
46b cell deficiency10.2
47alzheimer disease risk factor10.2
48febrile seizures10.2
49uremia10.2
50homocystinuria, cbld type, variant 110.2

Graphical network of the top 20 diseases related to Homocystinuria:



Diseases related to homocystinuria

Clinical Features for Homocystinuria

Drugs & Therapeutics for Homocystinuria

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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 UMLS61/NDF-RT41:

Genetic Tests for Homocystinuria

Sources:
22GTR
See all sources

Genetic tests related to Homocystinuria:

id Genetic test Affiliating Genes
1 Homocystinuria22

Anatomical Context for Homocystinuria

Sources:
33MalaCards
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MalaCards organs/tissues related to Homocystinuria:

33
Skin, Liver, Brain, Lung, Bone marrow, Heart, Smooth muscle, Skeletal muscle, Small intestine, Breast, Monocytes, T cells, B cells, Endothelial, Fetal brain, Fetal liver, Fetal lung

Animal Models for Homocystinuria or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Homocystinuria:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.7MAT1A, CBS, HMGCL, OTC, SERPINC1, BHMT
2MP:00053769.0SERPINC1, MTRR, MTHFR, MTR, BHMT, MAT1A

Publications for Homocystinuria

Sources:
51PubMed
See all sources

Articles related to Homocystinuria:

(show top 50)    (show all 508)
idTitleAuthorsYear
1
Dietary practices in pyridoxine non-responsive homocystinuria: a European survey. (24206934)
2013
2
Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy. (20610126)
2010
3
Homocystinuria, a possible solution of the Akhenaten's mystery. (20402329)
2010
4
Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC). (19760748)
2009
5
Reduced brain choline in homocystinuria due to remethylation defects. (18591504)
2008
6
Lenticular subluxation in a patient with homocystinuria undetected by neonatal screening. (18194900)
2007
7
Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria. (16087854)
2005
8
Molecular analysis of homocystinuria in Brazilian patients. (15993874)
2005
9
Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model. (15972722)
2005
10
Birth prevalence of homocystinuria. (15192637)
2004
11
A case of young adult presenting with cerebral infarction caused by homocystinuria]. (15552867)
2004
12
Pulmonary and lower extremity vascular lesions in a patient with homocystinuria: radiologic findings. (14976001)
2004
13
General anesthesia for patient with homocystinuria--a case report. (12434614)
2002
14
Disposition of homocysteine in subjects heterozygous for homocystinuria due to cystathionine beta-synthase deficiency: relationship between genotype and phenotype. (11343305)
2001
15
Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria. (10679944)
2000
16
Homocystinuria and psychiatric disorder: a case report. (10503267)
1999
17
Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria. (9870207)
1998
18
Growth promotion by homocysteine but not by homocysteic acid: a role for excessive growth in homocystinuria or proliferation in hyperhomocysteinemia? (9639661)
1998
19
Newborn screening for homocystinuria. (9131320)
1997
20
The structure of a domain common to archaebacteria and the homocystinuria disease protein. (9020585)
1997
21
Homocystinuria presenting as fatal common carotid artery occlusion. (8888052)
1996
22
Are patients with homocystinuria being missed? (7556330)
1995
23
High frequency (71%) of cystathionine beta-synthase mutation G307S in Irish homocystinuria patients. (7581402)
1995
24
Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria. (7849717)
1994
25
Homocystinuria: clinical and pathologic review, with emphasis on thrombotic features, including pulmonary artery thrombosis. (8316525)
1993
26
Nondetectable electroretinogram in combined methylmalonic aciduria and homocystinuria. (1637127)
1992
27
Functional and morphological deficits in late-treated patients with homocystinuria: a clinical, electrophysiologic and MRI study. (1851594)
1991
28
Pancreatitis and homocystinuria. (2116556)
1990
29
Higher total plasma homocysteine in vitamin B12 deficiency than in heterozygosity for homocystinuria due to cystathionine beta-synthase deficiency. (3340005)
1988
30
Interrelations between plasma free and protein-bound homocysteine and cysteine in homocystinuria. (3340007)
1988
31
Untreated homocystinuria: a maternal death in a woman with four pregnancies. Case report. (3663536)
1987
32
A cobalamin metabolic defect with homocystinuria, methylmalonic aciduria and macrocytic anemia. (2873525)
1986
33
Homocystinuria. Clinical, biochemical and genetic aspects of cystathionine beta-synthase and its deficiency in man. (3869875)
1985
34
Homocystinuria and schizophrenia. Literature review and case report. (3965612)
1985
35
Homocystinuria with bilateral absolute glaucoma. (3879832)
1985
36
Pyridoxal phosphate-induced liver injury in a patient with homocystinuria. (3939539)
1985
37
Betaine in the treatment of homocystinuria. (6690948)
1984
38
Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence. A treatable cause of dementia and myelopathy. (6749192)
1984
39
Folate-responsive homocystinuria and "schizophrenia'. (6982438)
1982
40
Homocystinuria treated with pyridoxine. (6984997)
1982
41
Pyridoxine-responsive homocystinuria. (7012699)
1981
42
A study of cardiovascular risk in heterozygotes for homocystinuria. (7325153)
1981
43
Neonatal screening in Italy for congenital hypothyroidism and metabolic disorders: hyperphenylalaninemia, maple syrup urine disease and homocystinuria. (7204885)
1980
44
Homocystinuria--response to pyridoxine therapy. (541337)
1979
45
Changing incidence of neonatal hypermethioninaemia: implications for the detection of homocystinuria. (507913)
1979
46
Homocystinuria and oral contraceptives. (87596)
1978
47
Homocystinuria. The evolution of skeletal changes in relation to treatment. (677757)
1978
48
A syndrome of methylmalonic aciduria, homocystinuria, megaloblastic anemia and neurologic abnormalities in a vitamin B12-deficient breast-fed infant of a strict vegetarian. (683264)
1978
49
Studies on the use of skin fibroblasts for the measurement of cystathionine synthase activity with respect to homocystinuria. (1000825)
1976
50
On the mechanism of pyridoxine responsive homocystinuria. II. Properties of normal and mutant cystathionine beta-synthase from cultured fibroblasts. (4531018)
1974

Genetic Variations for Homocystinuria

Expression for genes affiliated with Homocystinuria

Sources:
1BioGPS, 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

Sources:
38NCBI BioSystems Database, 54Reactome, 50PharmGKB, 30KEGG, 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
110.3MTR, CBS
2
Hide members
10.3MTR, MTHFR
310.2BHMT, MTR
410.2CBS, MTR, MTHFR
5
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10.1CBS, MTR, MTHFR, MTRR
6
Hide members
10.1MTRR, MTR, MAT1A, CBS
710.0BTD, MMACHC, LMBRD1, TCN2
8
Hide members
9.9MTR, BHMT, MAT1A, CBS, SUOX
9
Hide members
9.9MTHFR, MTR, MAT1A, CBS, OTC
109.9MTRR, MTR, MMADHC, MMACHC, LMBRD1, TCN2
11
Hide members
9.8MTRR, MTR, BHMT, MAT1A, CBS, SUOX
12
Hide members
9.8MTRR, MTHFR, MTR, BHMT, MAT1A, TCN2
139.7MTRR, MTR, BHMT, MAT1A, CBS, OTC
14
Hide members
9.7MTRR, MTHFR, MTR, BHMT, MAT1A, CBS
15
Hide members
9.7TCN2, MTRR, MTHFR, MTR, BTD, MMADHC
16
Hide members
9.5MMADHC, MMACHC, LMBRD1, HMGCL, TCN2, OTC

Compounds for genes affiliated with Homocystinuria

Sources:
45Novoseek, 24HMDB, 11DrugBank, 50PharmGKB
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Compounds related to Homocystinuria according to GeneCards/GeneDecks:

(show all 48)
idCompoundScoreTop Affiliating Genes
1methyl-group4510.6MTR, MTHFR
2corrinoid4510.6TCN2, MTR
3cob(ii)alamin45 2411.6MTR, MTRR
45,10-methenyltetrahydrofolate4510.6MTHFR, MTR, CBS
5adenosylcobalamin45 2411.5MTHFR, MTR, TCN2
6tetrahydrofolate4510.5MTRR, MTHFR, MTR
7pterin45 2411.5PTS, SUOX, MTR
8b vitamins4510.5MTRR, MTHFR, MTR, CBS
95-methyltetrahydrofolate45 1111.5CBS, MTR, MTHFR, MTRR
10riboflavin45 11 2412.5BHMT, MTHFR, MTRR
11Pyridoxine11 2411.5MTHFR, CBS
12pyridoxal 5-phosphate4510.5MTHFR, MTR, CBS
13ornithine45 2411.5MTR, OTC, ADSL
14multivitamin4510.4BTD, MTHFR
15L-Methionine11 2411.4MAT1A, BHMT, MTR, MTRR
16cobalt45 2411.4MTR, MAT1A, MMACHC, TCN2
17sarcosine45 2411.4BTD, CBS
1810-formyltetrahydrofolate4510.4MTR, MTHFR
19methylcobalamin45 2411.4MTRR, MTHFR, MTR, CBS, TCN2
20cyanocobalamin50 11 2412.4MTRR, MTHFR, MTR, MMACHC, TCN2
21hydroxocobalamin45 1111.4MTRR, MTHFR, MTR, MMACHC, TCN2
22methylmalonic acid45 2411.4TCN2, CBS, MTR, MTHFR, MTRR
23thymidylate4510.4MTRR, MTHFR, MTR, CBS
24betaine45 2411.4MTRR, MTHFR, MTR, BHMT, CBS
25s-adenosylhomocysteine45 2411.4MTRR, MTHFR, MTR, MAT1A, CBS
26purine45 2411.3MTHFR, MTR, CBS, SUOX, ADSL
27methotrexate45 50 1112.3CBS, MTR, MTHFR, MTRR
28cobalamin45 2411.3MTRR, MTHFR, MTR, CBS, MMACHC, TCN2
29ferricyanide4510.3SUOX, MTRR
30uric acid45 2411.3MTHFR, SUOX, ADSL
31s-adenosylmethionine45 11 2412.2MTRR, MTHFR, MTR, BHMT, MAT1A, CBS
32vitamin b64510.2MTHFR, MTR, BHMT, CBS, BTD, TCN2
33vitamin b124510.2MTRR, MTHFR, MTR, BHMT, CBS, MMACHC
34levodopa45 1111.2PTS, MAT1A, MTHFR
35cystathionine4510.2MTRR, MTHFR, MTR, BHMT, MAT1A, CBS
36histidine4510.2MTR, MAT1A, CBS, OTC, PTS, ADSL
37Tetrahydrofolic acid11 2411.2MTR, MTHFR
38aspartate4510.2MTRR, MTHFR, MTR, OTC, PTS
39methionine4510.1MTRR, MTHFR, MTR, BHMT, MAT1A, CBS
40creatinine4510.1MTHFR, MTR, TCN2, OTC, SERPINC1, ADSL
41valproic acid45 50 11 2413.1MTHFR, BTD, OTC
42glutamate4510.1MTRR, MTHFR, MTR, CBS, OTC, PTS
43folate4510.0MTRR, MTHFR, MTR, BHMT, MAT1A, CBS
44arginine4510.0CBS, BTD, OTC, SUOX, PTS, SERPINC1
45molybdenum45 2410.9ADSL, SUOX
46homocysteine45 2410.9SERPINC1, MTRR, MTHFR, SUOX, TCN2, CBS
47cysteine459.8MTHFR, MTR, BHMT, MAT1A, CBS, BTD
48serine459.7MTRR, MTHFR, MTR, BHMT, MAT1A, CBS

GO Terms for genes affiliated with Homocystinuria

Sources:
16Gene Ontology
See all sources

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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Sources for Homocystinuria

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet