MCID: HMC002
MIFTS: 50

Homocystinuria malady

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Homocystinuria

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Aliases & Descriptions for Homocystinuria:

Name: Homocystinuria 10 68 45 23 47 12 36 24 65
Cystathionine Beta Synthase Deficiency 10 23
Homocysteinemia 23 65
Cystathionine Beta-Synthase Deficiency Disease 65
 
Cystathionine Synthase Deficiency 10
Cystathionine Beta-Synthase 11
Cbs Deficiency 10

Classifications:



External Ids:

Disease Ontology10 DOID:9263
ICD1027 E72.11
SNOMED-CT59 11282001, 190709008
MeSH36 D006712
NCIt42 C84765
UMLS65 C0019880, C0751202, C3495426

Summaries for Homocystinuria

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NIH Rare Diseases:45 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 methylmalonic aciduria and homocystinuria, cblc type and homocystinuria due to mthfr deficiency. An important gene associated with Homocystinuria is MMACHC (Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, With Homocystinuria), and among its related pathways are Defective MTR causes methylmalonic aciduria and homocystinuria type cblG and Folate-Alcohol and Cancer Pathway. The drugs betaine and betaine hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and breast.

Disease Ontology:10 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:23 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:68 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 460)
idRelated DiseaseScoreTop Affiliating Genes
1methylmalonic aciduria and homocystinuria, cblc type34.3CBS, MMACHC, MTR
2homocystinuria due to mthfr deficiency34.1MTHFR, MTR
3methylmalonic aciduria and homocystinuria type cblg33.9MTR, MTRR
4methylmalonic aciduria and homocystinuria type cble33.3MTHFR, MTR, TCN2
5homocystinuria due to cbs deficiency31.9CBS, F5, FBN1, MMACHC, MTHFR, MTR
6atrial fibrillation30.0CBS, F5
7omphalocele30.0CBS, MTHFR, MTRR
8lateral sinus thrombosis29.7F5, SERPINC1
9cerebrovascular disease29.7F5, SERPINC1
10oral squamous cell carcinoma29.7F5, MTHFR
11adenocarcinoma29.3F5, MTHFR, SERPINC1
12thyroid cancer28.9CBS, F5, MTHFR, MTR, MTRR
13methylmalonic aciduria and homocystinuria, cbld type12.6
14methylmalonic aciduria and homocystinuria, cblf type12.5
15methylmalonic acidemia with homocystinuria, type cbld12.5
16homocystinuria-megaloblastic anemia, cbl e type12.5
17methylmalonic acidemia with homocystinuria12.5
18homocystinuria-megaloblastic anemia, cblg complementation type12.5
19methylmalonic aciduria and homocystinuria, cblj type12.5
20homocystinuria, b6-responsive and nonresponsive types12.4
21homocysteinemia12.4
22methylmalonic acidemia with homocystinuria, type cblj12.3
23homocystinuria caused by cystathionine beta-synthase deficiency12.3
24classic homocystinuria12.2
25homocystinuria due to methylene tetrahydrofolate reductase deficiency12.2
26methylmalonic acidemia with homocystinuria, type cblx12.2
27homocystinuria due to defect in methylation cbl e12.2
28homocystinuria due to defect in methylation cbl g12.2
29homocystinuria without methylmalonic aciduria12.2
30mthfr deficiency11.4
31noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia11.4
32cblf11.2
33congenital intrinsic factor deficiency10.4MTR, MTRR
34survival motor neuron spinal muscular atrophy10.4MMACHC, MMADHC
35candidiasis, familial, 6, autosomal dominant10.3CBS, MTHFR
36angioimmunoblastic lymphadenopathy with dysproteinemia10.3MTHFR, MTR
37arthritis10.2
38lymphoma10.2
39ectopia lentis, isolated, autosomal recessive10.2
40methylmalonic aciduria, vitamin b12-responsive10.2
41methylmalonic aciduria, mut(0) type10.2
42methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb complementation type10.2
43pneumothorax, primary spontaneous10.2
44mthfr gene mutation10.2
45pectus carinatum10.2
46isolated growth hormone deficiency10.2CBS, FBN1
47breast cancer10.2
48pancreatitis10.2
49thyroiditis10.2
50neuronitis10.2

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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Drugs for Homocystinuria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Hypolipidemic AgentsPhase 3, Phase 22228
2Gastrointestinal AgentsPhase 3, Phase 26401
3
BetainePhase 3, Phase 232107-43-7247
Synonyms:
(Carboxymethyl)trimethylammonium hydroxide inner salt
(Trimethylammonio)acetate
1-Carboxy-N,N,N-trimethyl-Methanaminium
1-Carboxy-N,N,N-trimethyl-Methanaminium hydroxide
1-Carboxy-N,N,N-trimethylmethanaminium inner salt
Abromine
Aminocoat
Betafin
Betafin BCR
Betafin BP
Betaine
Cystadane
Ektasolve EE
FinnStim
Glycine betaine
 
Glycocoll betaine
Glycylbetaine
Greenstim
Loramine AMB 13
Loramine AMB-13
Lycine
N,N,N-Trimethylglycine
Oxyneurine
Rubrine C
Trimethylaminoacetate
Trimethylaminoacetic acid
Trimethylbetaine Glycine
Trimethylglycine
Trimethylglycocoll
a-Earleine
alpha-Earleine
4AntimetabolitesPhase 3, Phase 29454
5
AcetylcysteineapprovedPhase 2293616-91-112035
Synonyms:
(2R)-2-acetylamino-3-Sulfanylpropanoic acid
(R)-2-acetylamino-3-Mercaptopropanoic acid
(R)-Mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
 
Fluprowit
L-Acetylcysteine
L-alpha-acetamido-beta-Mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
6
HydroxocobalaminapprovedPhase 222713422-51-011953898, 5460373, 44475014
Synonyms:
13422-51-0
22465-48-1
78091-12-0
8017-22-9
Acti-B12
AlphaRedisol
AlphaRedisol (TN)
Axion
Axlon
Benzimidazolyl ribofuranosyl phosphate deriv.
C08230
C62H85CoN13O15P
CHEBI:27786
CHEMBL1200742
CHEMBL235822
CID11622291
CID11953898
CID5460373
CID6433575
CID6474319
Ciplamin H
Coalpha-[alpha-(5,6-dimethylbenzimidazolyl)]-Cobeta-hydroxocobamide
Cobalex
Cobalin H
Cobinamide dihydroxide dihydrogen phosphate (ester), mono(inner salt), 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-a-D-ribofuranosylbenzimidazole inner salt
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole inner salt
Cobinamide hydroxide phosphate 3'-ester with 5,6-dimethyl-1-alpha-delta-ribofuranosylbenzimidazole inner salt
Cobinamide, Co-hydroxy-, dihydrogen phosphate (ester), inner salt, 3'-ester with (5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole-kappaN3)
Cobinamide, Co-hydroxy-, f-(dihydrogen phosphate), inner salt, 3'-ester with (5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole-kappaN3)
Cobinamide, dihydroxide, dihydrogen phosphate (ester), mono (inner salt), 3'- ester with 5,6-dimethyl-1-alpha-D-ribofuranosylbenzimidazole
Cobinamide, dihydroxide, dihydrogen phosphate (ester), mono(inner salt), 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole
Cobinamide, hydroxide, dihydrogen phosphate (ester), inner salt, 3'-ester with 5,6-dimethyl-1-alpha-D-ribofuranosyl-1H-benzimidazole
Codroxomin
Cyanokit
Cyanokit (TN)
D01027
DB00200
Depogamma
Docclan
Docelan
Docelvita
Docevita
Droxomin
Ducobee Hy
Ducobee-Hy
Duradoce
Duralta-12
EINECS 236-533-2
HSDB 3342
HYDROXOCOBALAMIN
Hidroxocobalamina
Hidroxocobalamina [INN-Spanish]
 
Hydro Cobex
Hydrobamine
Hydrocobalamin
Hydrogrisevit
Hydrovit
Hydroxocobalamin
Hydroxocobalamin (JAN/USP/INN)
Hydroxocobalamin Vitamin B12
Hydroxocobalamin [USAN:INN:BAN:JAN]
Hydroxocobalamin acetate
Hydroxocobalamin monohydrochloride
Hydroxocobalamin(alkaline soln.), OH- replaces CN- in Cyanocobalamin)
Hydroxocobalaminacetat
Hydroxocobalamine
Hydroxocobalamine [INN-French]
Hydroxocobalaminum
Hydroxocobalaminum [INN-Latin]
Hydroxocobemine
Hydroxomin
Hydroxy Cobal
Hydroxy vitamin B12
Hydroxycob(lll)alamin
Hydroxycobalamin
Hydroxycobalamine
Hyxobamine
Idrogrisevit
Idrossocobalamina
Idrossocobalamina [DCIT]
LS-54607
Lyovit-H
Neo-Betalin 12
Neo-cytamen
Neo-macrabin
Neo-rojamin
OH-Cbl
OH-Duphar
Ohb12
Oxobemin
Oxolamine (arcum)
Primabalt RP
Redisol-H
S1668_Selleck
Sytobex-H
UNII-Q40X8H422O
Vibeden
Vitadurin
Vitamin B(sub 12a)
Vitamin B-12b
Vitamin B12a
Vitamin B12b
a-(5,6-Dimethylbenzimidazolyl)hydroxocobamide
alpha Cobione
alpha-(5,6-Dimethylbenzimidazolyl)hydroxocobamide
vitamin B-12b
7
Cyanocobalaminapproved, nutraceuticalPhase 222768-19-944176380
Synonyms:
Anacobin
Bedoz
Berocca PN
Berubigen
Betalin 12
Betalin 12 Crystalline
Betaline-12
Betolvex
Bevidox
Bevidox concentrate
Biocobalamine
Byladoce
Cabadon m
Cernevit-12
Cobadoce forte
Cobalin
Cobavite
Cobex
Cobolin-M
Copharvit 5000
Covit
Crystamin
Crystamine
Crysti-12
Crystimin
Crystwel
Cyano-B12
Cyanobalamin concentrate
Cyanocob(III)alamin
Cyanocobalamin
Cyanocobalamin (JP15/USP)
Cyanocobalamin Co 57 Schilling Test Kit
Cyanocobalamine
Cyanocobalmin
Cyanoject
Cycobemin
Cycolamin
Cykobemin
Cykobeminet
Cyomin
Cyredin
Cytacon
Cytamen
Cytobion
Depinar
Dicopac
Dicopac Kit
Dimethylbenzimidazoylcobamide
Distivit
Docemine
Docibin
Docivit
Dodecabee
Dodecavite
Dodex
Duodecibin
Embiol
Emociclina
Eritrone
 
Erycytol
Erythrotin
Euhaemon
Extrinsic factor
Factor II
Fermin
Fresmin
Hemomin
Hepagon
Hepavis
Hepcovite
Hylugel plus
Infuvite Pediatric
Lactobacillus lactis dorner factor
M.V.I. Pediatric
Macrabin
Megabion
Megalovel
Milbedoce
Millevit
Nagravon
Nascobal
Nascobal (TN)
Neuroforte-R
Normocytin
Novidroxin
Pernaemon
Pernaevit
Pernipuron
Plecyamin
Poyamin
Primabalt
Rebramin
Redamina
Redisol
Rhodacryst
Rubesol
Rubivite
Rubramin
Rubramin PC
Rubratope-57 Kit
Rubratope-60 Kit
Rubripca
Rubrocitol
Ruvite
Shovite
Sytobex
Vi-Twel
Vibal
Vibalt
Vibisone
Virubra
Vita-rubra
Vitabee 12
Vitamin B12
Vitamin B12 Preparation
Vitamin B12 complex
Vitaped
Vitarubin
Vitral
vitamine b12
8Protective AgentsPhase 25651
9Respiratory System AgentsPhase 23931
10N-monoacetylcystinePhase 2293
11Anti-Infective AgentsPhase 217220
12ExpectorantsPhase 2337
13AntioxidantsPhase 22442
14Antiviral AgentsPhase 28071
15Vitamin B 12Phase 2227
16
Taurineexperimental, NutraceuticalPhase 1, Phase 226107-35-71123
Synonyms:
1-Aminoethane-2-sulfonate
1-Aminoethane-2-sulfonic acid
2-Aminoethanesulfonate
2-Aminoethanesulfonic acid
2-Aminoethylsulfonate
2-Aminoethylsulfonic acid
 
2-Sulfoethylamine
Aminoethylsulfonate
Aminoethylsulfonic acid
Taurine
b-Aminoethylsulfonate
b-Aminoethylsulfonic acid
beta-Aminoethylsulfonate
beta-Aminoethylsulfonic acid
17Vitamin B12NutraceuticalPhase 2227
18
MethylcobalaminNutraceuticalPhase 222613422-55-4
Synonyms:
Algobaz
Co-Methylcobalamin
Hitocobamin M
MeCbl
Mecobalamin
Methycobal
 
Methyl cobalamine
Methyl vitamin B12
Methyl-5,6-dimethylbenzimidazolylcobalamin
Methyl-B12
Methylcob(III)alamin
Methylcobalamin
Methylcobaz
19
CobalaminNutraceuticalPhase 222713408-78-16438156
Synonyms:
5,6-Dimethyl-1-a-D-ribofuranosyl-1H-benzimidazole
5,6-Dimethyl-1-a-D-ribofuranosylbenzimidazole
5,6-Dimethyl-1-alpha-delta-ribofuranosyl-1H-benzimidazole
5,6-Dimethyl-1-alpha-delta-ribofuranosylbenzimidazole
Cob(III)alamin
Cobalamin (III)
Cobalamine
 
Cobinamide ion(1+) dihydrogen phosphate (ester) inner salt 3'-ester
Cobinamide ion(1+) dihydrogen phosphate (ester) inner salt 3'-ester with 5,6-dimethyl-1-alpha-delta-ribofuranosyl-1H-benzimidazole
Hydroxomin
Rubivite
Rubratope-57
Rubratope-60
Ruvite
Vitamin B12

Interventional clinical trials:

idNameStatusNCT IDPhase
1Betaine and Peroxisome Biogenesis DisordersRecruitingNCT01838941Phase 3
2Homocystinuria: Treatment With N-AcetylcysteineCompletedNCT00483314Phase 2
3Betaine METABOLISM OF PATIENTS With HomocystinuriaRecruitingNCT02404337Phase 2
4Oxidative Stress Markers In Inherited Homocystinuria And The Impact Of TaurineActive, not recruitingNCT01192828Phase 1, Phase 2
5EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological ImpairmentActive, not recruitingNCT01793090Phase 2
6Study of Homocysteine Metabolism in HomocystinuriaCompletedNCT00004356
7Normal Values of Oxidative Stress, Taurine, and Related MarkersRecruitingNCT02649777

Search NIH Clinical Center for Homocystinuria

Inferred drug relations via UMLS65/NDF-RT43:


Cochrane evidence based reviews: homocystinuria

Genetic Tests for Homocystinuria

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Anatomical Context for Homocystinuria

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MalaCards organs/tissues related to Homocystinuria:

33
Eye, Bone, Breast, Prostate, T cells, Endothelial, Lung

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 542)
idTitleAuthorsYear
1
Bimatoprost solution 0.03% topical application to the eyelid margin for the treatment of eyelash hypotrichosis. (26873623)
2016
2
Use of Autologous Serum in Treatment of Lumbar Radiculopathy Pain. Pilot Study. (27053305)
2016
3
A Residue Quartet in the Extracellular Domain of the Prolactin Receptor Selectively Controls Mitogen-activated Protein Kinase Signaling. (25784554)
2015
4
Paget's disease of the male breast with underlying ductal carcinoma in situ ('DCIS'). (25832464)
2015
5
MA Randomized, Multicenter, Double-Blind, Placebo-Controlled, 3 A9 3 Factorial Design, Phase II Study to Evaluate the Efficacy and Safety of the Combination of Fimasartan/Amlodipine in Patients With Essential Hypertension. (25850881)
2015
6
miR-106a represses the Rb tumor suppressor p130 to regulate cellular proliferation and differentiation in high-grade serous ovarian carcinoma. (24045973)
2013
7
Newly Diagnosed Immune Thrombocytopenia: Update on Diagnosis and Management. (24091868)
2013
8
Valproic acid for the treatment of low-risk myelodysplastic syndromes: A case report and a review of the literature. (24371778)
2013
9
Combination of zoledronic Acid and targeted therapy is active but may induce osteonecrosis of the jaw in patients with metastatic renal cell carcinoma. (23642545)
2013
10
Human Growth Hormone Induced Cholestatic Hepatitis in a Growth Hormone Deficient Patient with Short Stature. (24359565)
2013
11
Clear cell carcinomas of the ovary: a multi-institutional study of 129 cases in Korea with prognostic significance of Emi1 and Galectin-3. (23202783)
2013
12
Dermatofibrosarcoma: a rare neoplasm of skin. (23175016)
2012
13
Alternative splicing determines mRNA translation initiation and function of human K(2P)10.1 K+ channels. (21669980)
2011
14
Single nucleotide polymorphism in the methyl-CpG binding domain 4 gene and the risk for immune thrombocytopenic purpura in Chinese population. (20100009)
2010
15
MR urethrogram versus combined retrograde urethrogram and sonourethrography in diagnosis of urethral stricture. (19608363)
2010
16
A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects. (19762328)
2010
17
Nutrition and bone health. Roles of vitamin C and vitamin B as regulators of bone mass and quality]. (19638704)
2009
18
Recombinant Ov-ASP-1, a Th1-biased protein adjuvant derived from the helminth Onchocerca volvulus, can directly bind and activate antigen-presenting cells. (19299698)
2009
19
COOH-terminal clustering of autoantibody and T-cell determinants on the structure of GAD65 provide insights into the molecular basis of autoreactivity. (18184926)
2008
20
Endothelin-1 mediated regulation of extracellular matrix collagens in cells of human lamina cribrosa. (18420197)
2008
21
Proteome- and microarray-based expression analysis of lymphoma cell lines identifies a p53-centered cluster of differentially expressed proteins in mantle cell and follicular lymphoma. (17990259)
2007
22
Organophosphorus poisoning (acute). (19454054)
2007
23
Antioxidative stress activity of oligophosphopeptides derived from hen egg yolk phosvitin in Caco-2 cells. (16448181)
2006
24
MicroRNAs in normal and cancer cells: a new class of gene expression regulators. (17285108)
2006
25
Transcriptional response of bronchial epithelial cells to Pseudomonas aeruginosa: identification of early mediators of host defense. (15701729)
2005
26
Associations among sick building syndrome, psychosocial factors, and personality traits. (16060437)
2005
27
Overlapping expression patterns of the multiligand endocytic receptors cubilin and megalin in the CNS, sensory organs and developing epithelia of the rodent embryo. (16027047)
2005
28
Subcutaneous microdialysis before and after an oral glucose tolerance test: a method to determine insulin resistance in the subcutaneous adipose tissue in diabetes mellitus. (16050945)
2005
29
Differential expression of mRNAs for PACAP and its receptors during neural differentiation of embryonic stem cells. (15620423)
2005
30
Helicobacter bilis infection in biliary tract cancer. (15298612)
2004
31
Plasma and cerebrospinal fluid pharmacokinetics of depsipeptide (FR901228) in nonhuman primates. (15042312)
2004
32
Inhibition of TCR-induced CD8 T cell death by IL-12: regulation of Fas ligand and cellular FLIP expression and caspase activation by IL-12. (12594270)
2003
33
Differences in the lipolytic function of adipose tissue preparations from Black American and Caucasian women. (12404207)
2002
34
Comparison of antigen contents in co-cultures by an in situ immunoradiometric assay. (10629942)
1999
35
RANTES stimulates cell-mediated transmission of HIV-1 infection. (10334385)
1999
36
Cellular distribution of adenosine A2A receptor mRNA in the primate striatum. (9721905)
1998
37
Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search. (9345103)
1997
38
In vitro binding and phosphorylation of insulin receptor substrate 1 by the insulin receptor. Role of interactions mediated by the phosphotyrosine-binding domain and the pleckstrin-homology domain. (9128728)
1997
39
Molecular biology of head and neck tumorigenesis: the role of p53 expression and genetic instability. (9071061)
1996
40
Application of a cholinesterase biosensor to screen for organophosphorus pesticides extracted from soil. (18966276)
1995
41
DNA image cytometry and the expression of proliferative markers (proliferating cell nuclear antigen and Ki67) in non-Hodgkin's lymphomas. (7731942)
1995
42
The biochemical properties and transforming potential of human Wnt-2 are similar to Wnt-1. (1371336)
1992
43
Bacteriological study of meningococcal meningitis. (1803001)
1991
44
Human laminin A chain (LAMA) gene: chromosomal mapping to locus 18p11.3. (2591971)
1989
45
Klinefelter's syndrome and mitral valve prolapse. an echocardiographic study in twenty-two patients. (6743777)
1984
46
The variable manifestations of extraarticular synovial chondromatosis. (6974968)
1981
47
Unilateral hypoperfusion of the lung and carcinoid syndrome due to bronchial carcinoid tumor. (842945)
1977
48
Assignment of the gene for human adenosine kinase to chromosome 10 using a somatic cell hybrid clone panel. (185014)
1976
49
Senile cataract. (4175685)
1968
50

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:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.9MTR, MTRR
29.7CBS, MTHFR
3
Show member pathways
9.5CBS, MTR, MTRR
4
Show member pathways
9.4CBS, MTHFR, MTR
59.4LMBRD1, MMACHC, TCN2
6
Show member pathways
8.9MMACHC, MMADHC, MTR, MTRR, TCN2
7
Show member pathways
8.7CBS, MTHFR, MTR, MTRR, TCN2
88.0ABCD4, LMBRD1, MMACHC, MMADHC, MTR, MTRR
9
Show member pathways
7.5ABCD4, LMBRD1, MMACHC, MMADHC, MTHFR, MTR
10
Show member pathways
7.2ABCD4, CBS, LMBRD1, MMACHC, MMADHC, MTHFR

GO Terms for genes affiliated with Homocystinuria

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1sulfur amino acid metabolic processGO:000009610.4MTR, MTRR
2homocysteine metabolic processGO:005066710.3CBS, MTHFR
3folic acid metabolic processGO:004665510.3MTHFR, MTRR
4water-soluble vitamin metabolic processGO:00067679.9LMBRD1, TCN2
5cobalamin metabolic processGO:00092359.5LMBRD1, MMACHC, MMADHC, MTR, MTRR
6small molecule metabolic processGO:00442818.6ABCD4, CBS, MTHFR, MTR, MTRR
7vitamin metabolic processGO:00067668.5ABCD4, LMBRD1, MTHFR, MTR, MTRR

Sources for Homocystinuria

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet