MCID: HMC002
MIFTS: 52

Homocystinuria malady

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Homocystinuria

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Aliases & Descriptions for Homocystinuria:

Name: Homocystinuria 11 69 46 24 13 25 48 37 66
Cystathionine Beta Synthase Deficiency 11 24
Homocysteinemia 24 66
 
Cystathionine Beta-Synthase Deficiency Disease 66
Cystathionine Synthase Deficiency 11
Cbs Deficiency 11

Classifications:



External Ids:

Disease Ontology11 DOID:9263
ICD1028 E72.11
SNOMED-CT60 11282001, 190709008
MeSH37 D006712
NCIt43 C84765

Summaries for Homocystinuria

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NIH Rare Diseases:46 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, and has symptoms including chyluria, chyluria and pneumatouria. An important gene associated with Homocystinuria is MMACHC (Methylmalonic Aciduria (Cobalamin Deficiency) CblC Type, With Homocystinuria), and among its related pathways are Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE and Folate Metabolism. The drugs betaine and betaine hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and liver.

Disease Ontology:11 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:24 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:69 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 159)
idRelated DiseaseScoreTop Affiliating Genes
1methylmalonic aciduria and homocystinuria, cblc type34.1CBS, MMACHC, MTR
2homocystinuria due to mthfr deficiency33.8MTHFR, MTR
3methylmalonic aciduria and homocystinuria type cblg32.8MTHFR, MTR, TCN2
4homocystinuria due to defect in methylation cbl g31.6FBN1, MMACHC, MTHFR, MTR, MTRR
5thrombophilia30.0MTHFR, SERPINC1
6neural tube defects28.7CBS, MTHFR, MTR, MTRR, TCN2
7methylmalonic acidemia with homocystinuria12.2
8methylmalonic aciduria and homocystinuria, cbld type12.2
9methylmalonic aciduria and homocystinuria, cblf type12.1
10homocystinuria-megaloblastic anemia, cbl e type12.1
11homocystinuria, b6-responsive and nonresponsive types12.1
12methylmalonic acidemia with homocystinuria, type cbld12.1
13homocystinuria-megaloblastic anemia, cblg complementation type12.1
14methylmalonic aciduria and homocystinuria, cblj type12.1
15homocystinuria caused by cystathionine beta-synthase deficiency12.1
16homocystinuria due to cbs deficiency12.0
17methylmalonic acidemia with homocystinuria, type cblj11.9
18methylmalonic aciduria and homocystinuria type cble11.8
19homocystinuria due to defect in methylation cbl e11.8
20homocystinuria without methylmalonic aciduria11.8
21mthfr deficiency11.4
22noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia11.0
23mental retardation, x-linked 311.0
24cblf10.8
25congenital intrinsic factor deficiency10.6MTR, MTRR
26x-linked disease10.6MTR, MTRR
27factor v leiden thrombophilia10.6MTR, MTRR
28candidiasis, familial, 6, autosomal dominant10.5CBS, MTHFR
29apraxia10.4CBS, MTHFR
30lipid pneumonia10.3MTR, TCN2
31hereditary essential tremor 510.3MTHFR, TCN2
32subcortical arteriosclerotic encephalopathy10.3MTHFR, SERPINC1
33thyroid hyalinizing trabecular adenoma10.3MTHFR, SERPINC1
34hypertensive heart disease10.3MTHFR, SERPINC1
35left-right axis malformations10.2MTHFR, SERPINC1
36lymphatic system cancer10.2MTHFR, SERPINC1
37polyhydramnios10.2MTHFR, SERPINC1
38histoplasmosis10.2MTHFR, SERPINC1
39budd-chiari syndrome10.2MTHFR, SERPINC1
40functional colonic disease10.2MTHFR, SERPINC1
41selective iga deficiency disease10.2MTHFR, SERPINC1
42angular blepharoconjunctivitis10.2MTHFR, SERPINC1
43intracranial arteriosclerosis10.2MTHFR, SERPINC1
44neural tube defects, folate-sensitive10.2MTHFR, MTR, MTRR
45pseudohermaphroditism10.2MTHFR, SERPINC1
46coloboma-obesity-hypogenitalism-mental retardation syndrome10.2MTHFR, MTR, MTRR
47megaloblastic anemia10.2
48cerebritis10.2
49x-linked congenital generalized hypertrichosis10.2MTHFR, MTR, MTRR
50dermatitis10.1MTHFR, SERPINC1

Graphical network of the top 20 diseases related to Homocystinuria:



Diseases related to homocystinuria

Symptoms for Homocystinuria

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UMLS symptoms related to Homocystinuria:


chyluria, pneumatouria, traumatic hematuria, seizures

Drugs & Therapeutics for Homocystinuria

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

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
BetainePhase 3, Phase 233107-43-7247
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
2-trimethylammonioacetate
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
TMG
Trimethylaminoacetate
Trimethylaminoacetic acid
Trimethylbetaine Glycine
Trimethylglycine
Trimethylglycocoll
a-Earleine
alpha-Earleine
2
AcetylcysteinePhase 2304616-91-112035
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
3UbiquinonePhase 2132
4
HydroxocobalaminPhase 223613422-51-011953898, 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 anhydrous
Hydroxocobalamin monohydrochloride
Hydroxocobalamin(alkaline soln.), OH- replaces CN- in Cyanocobalamin)
Hydroxocobalaminacetat
Hydroxocobalamine
Hydroxocobalamine [INN-French]
Hydroxocobalaminum
Hydroxocobalaminum [INN-Latin]
Hydroxocobalaminum anhydrous
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
5Vitamin B12NutraceuticalPhase 2237
6
MethylcobalaminNutraceuticalPhase 223713422-55-4
Synonyms:
Algobaz
Co-Methylcobalamin
Co-methylcobalamin
Hitocobamin M
MeCbl
Mecobalamin
Methycobal
 
Methyl cobalamine
Methyl vitamin B12
Methyl-5,6-dimethylbenzimidazolylcobalamin
Methyl-B12
Methylcob(III)alamin
Methylcobalamin
Methylcobaz
mecobalamin
methyl(III)cobalamin
7FolateNutraceuticalPhase 24143
8
TaurineNutraceuticalPhase 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
9
cobalaminNutraceuticalPhase 223713408-78-16438156
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
10
CyanocobalaminNutraceuticalPhase 223768-19-944176380
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 (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
11
Folic AcidNutraceuticalPhase 2414359-30-36037
Synonyms:
(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid
01769_FLUKA
2d0k
33609-88-0
36653-55-1 (mono-potassium salt)
59-30-3
6484-89-5 (mono-hydrochloride salt)
AC-11682
AC1L1LNX
AI3-26387
AKOS000503224
ARONIS014410
Acfol (Spain)
Acide folique
Acide folique [INN-French]
Acido folico
Acido folico [INN-Spanish]
Acidum folicum
Acidum folicum [INN-Latin]
Acifolic
Antianemia factor
Apo-Folic
BIDD:ER0563
BIDD:GT0641
BIF0608
BPBio1_000654
BSPBio_000594
BSPBio_002338
C00504
C20H20N6O6
CAS-59-30-3
CCRIS 666
CHEBI:27470
CHEMBL1622
CID6037
CPD000471860
Cytofol
D00070
DB00158
DivK1c_000494
Dosfolat B activ
EINECS 200-419-0
F0043
F7876_SIAL
F7876_SIGMA
F8758_SIGMA
F8798_SIAL
F8890_SIGMA
FOL
Facid
Factor U
Folacid
Folacin
Folaemin
Folaemin [Netherlands]
Folan
Folasic (Australia)
Folate
Folbal
Folcidin
Folcidin (VAN)
Folcysteine
Foldine
Foldine [France]
Folettes
Foliamin
Folic
Folic acid
Folic acid (JP15/USP/INN)
Folic acid (TN)
Folic acid [BAN:INN:JAN]
Folic acid [INN:BAN:JAN]
Folic acid dihydrate
Folicet
Folicet (TN)
Folico
Folico (Italy)
Folina
Folina (Italy)
Folipac
Folsaeure
 
Folsan
Folsaure
Folsav
Folvite
Folvron
Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L
HMS1921D20
HMS2092N17
HMS501I16
HSDB 2002
IDI1_000494
InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s
Incafolic
KBio1_000494
KBio2_001861
KBio2_004429
KBio2_006997
KBio3_001558
KBioGR_002222
KBioSS_001861
Kyselina listova
Kyselina listova [Czech]
LS-2157
Liver Lactobacillus casei factor
MLS001304016
MLS001335861
Millafol
Mission prenatal
Mittafol
MolPort-004-285-551
N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid
N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-(4-{[(2-Amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid
N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid
N-Pteroyl-L-glutamic acid
N-[(4-{[(2-Amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid
N-[4-[[(2-Amino-3,4-dihydro-4-oxo-6-pteridinyl)methyl]amino]benzoyl]-L-glutamic acid
NCGC00016265-01
NCGC00142391-01
NINDS_000494
NSC 3073
Nifolin
Nifolin [Denmark]
Novofolacid
Novofolacid [Canada]
PGA
PGA (VAN)
Prestwick3_000627
Prestwick_230
PteGlu
Pteroyl-L-glutamate
Pteroyl-L-glutamic acid
Pteroyl-L-monoglutamate
Pteroyl-L-monoglutamic acid
Pteroylglutamate
Pteroylglutamic acid
Pteroylmonoglutamate
Pteroylmonoglutamic acid
SAM002264616
SDCCGMLS-0066738.P001
SMP2_000137
SMR000471860
SPBio_001357
SPECTRUM1502020
Serum Folate Level
Spectrum2_001459
Spectrum3_000749
Spectrum4_001751
Spectrum5_000602
Spectrum_001381
UNII-935E97BOY8
Usaf cb-13
Vitamin B11
Vitamin B9
Vitamin Bc
Vitamin Be
Vitamin M
bmse000299
folic acid
nchembio.108-comp10

Interventional clinical trials:

idNameStatusNCT IDPhase
1Betaine and Peroxisome Biogenesis DisordersCompletedNCT01838941Phase 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 MarkersActive, not recruitingNCT02649777

Search NIH Clinical Center for Homocystinuria

Inferred drug relations via UMLS66/NDF-RT44:


Cochrane evidence based reviews: homocystinuria

Genetic Tests for Homocystinuria

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Genetic tests related to Homocystinuria:

id Genetic test Affiliating Genes
1 Homocystinuria25

Anatomical Context for Homocystinuria

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MalaCards organs/tissues related to Homocystinuria:

34
Eye, Bone, Liver, Skin, Testes, Brain, Endothelial

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 552)
idTitleAuthorsYear
1
A Case of Homocystinuria Misdiagnosed as Moyamoya Disease: A Case Report. (27330833)
2016
2
Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family. (26667307)
2015
3
The eye as a window to a rare disease: ectopia lentis and homocystinuria, a Pakistani perspective. (25982157)
2015
4
Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism. (25155779)
2014
5
Authors' reply: Comment to varied phenotype of Homocystinuria: possible diagnostic error. (25360472)
2014
6
cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period. (23430521)
2013
7
Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type. (23580368)
2013
8
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
9
Is lipid metabolism altered in classical homocystinuria? (22579591)
2012
10
From apneic spells to the development of hypertensive hydrocephalus: a case report of homocystinuria with early onset. (19509410)
2010
11
Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy. (20610126)
2010
12
Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC). (19760748)
2009
13
Methylenetetrahydrofolate reductase deficiency (homocystinuria type II) as a rare cause of rapidly progressive tetraspasticity and psychosis in a previously healthy adult. (18854913)
2008
14
Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type. (18848477)
2008
15
Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria. (16087854)
2005
16
Cerebral edema associated with betaine treatment in classical homocystinuria. (15069409)
2004
17
CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families. (12555939)
2002
18
Sagittal sinus thrombosis in a teenager: homocystinuria associated with reversible antithrombin deficiency. (12162390)
2002
19
Vascular complications of homocystinuria: a retrospective multicenter study]. (11928374)
2002
20
Homocystinuria due to cystathionine beta-synthase deficiency associated with megaloblastic anaemia. (11887982)
2001
21
Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study. (11742888)
2001
22
Oxidative stress and platelet activation in homozygous homocystinuria. (11535567)
2001
23
Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine beta-synthase deficiency: effects of homocysteine-lowering therapy. (11011851)
2000
24
Decreased circulating plasma lipids in patients with homocystinuria. (10384378)
1999
25
Betaine for homocystinuria. (9025725)
1997
26
Irreversible inhibition of lysyl oxidase by homocysteine thiolactone and its selenium and oxygen analogues. Implications for homocystinuria. (9405445)
1997
27
Delay in diagnosis of homocystinuria. Total rather than free homocysteine is better for screening. (9040342)
1997
28
Homocystinuria presenting with portal vein thrombosis and pancreatic pseudocyst: a case report. (9323245)
1997
29
Spontaneous pneumothorax in association with pyridoxine-responsive homocystinuria. (9427154)
1997
30
An adult case of homocystinuria probably due to methylenetetrahydrofolate-reductase deficiency--treatment with folic acid and the course of coagulation-fibrinolysis parameters]. (8752689)
1996
31
Homocystinuria and administration of nitrous oxide. (7661974)
1995
32
Free amino acids in amniotic fluid and the prenatal diagnosis of homocystinuria with methylmalonic aciduria. (7586560)
1995
33
Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria. (7849717)
1994
34
Homocystinuria: a family with peculiar genetic transmission. (8335602)
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
The Italian National Research Council project on homocystinuria. (2807045)
1989
38
Postoperative dystonia in a female patient with homocystinuria. (3183844)
1988
39
Untreated homocystinuria: a maternal death in a woman with four pregnancies. Case report. (3663536)
1987
40
Central and peripheral nervous system pathology of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency. (2854737)
1985
41
Homocysteinemia, ischemic heart disease, and the carrier state for homocystinuria. (6684724)
1983
42
Immunochemical studies on cultured fibroblasts from patients with homocystinuria due to cystathionine beta-synthase deficiency. (7081217)
1982
43
Kinetics and distribution of 111Indium-labeled platelets in patients with homocystinuria. (7110243)
1982
44
Epileptiform ocular movements with methylmalonic aciduria and homocystinuria. (7425038)
1980
45
Affinity of cystathionine beta-synthase for pyridoxal 5'-phosphate in cultured cells. A mechanism for pyridoxine-responsive homocystinuria. (7400312)
1980
46
Homocystinuria--response to pyridoxine therapy. (541337)
1979
47
Infantile type of homocystinuria with N5,10-methylenetetrahydrofolate reductase defect. (847745)
1977
48
De subitaneis mortibus. IV. Coronary vessels and conduction system in homocystinuria. (4810564)
1974
49
Investigations of coagulation and fibrinolysis in homocystinuria. (4835159)
1974
50
Letter: Enlarged epiphyses: megepiphyseal dwarfism or homocystinuria? (4852777)
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 14)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.9MTR, MTRR
2
Show member pathways
9.7MTHFR, MTRR
39.6CBS, MTHFR
4
Show member pathways
9.5CBS, MTR, MTRR
5
Show member pathways
9.5CBS, MUT
69.4LMBRD1, MMACHC, TCN2
7
Show member pathways
9.3CBS, MTHFR, MTR
8
Show member pathways
8.7CBS, MTHFR, MTR, MUT
9
Show member pathways
8.5CBS, MTHFR, MTR, MTRR, TCN2
10
Show member pathways
8.2MMACHC, MMADHC, MTR, MTRR, MUT, TCN2
11
Show member pathways
8.2MMACHC, MMADHC, MTR, MTRR, MUT, TCN2
127.4ABCD4, LMBRD1, MMACHC, MMADHC, MTR, MTRR
13
Show member pathways
6.9ABCD4, LMBRD1, MMACHC, MMADHC, MTHFR, MTR
14
Show member pathways
6.6ABCD4, 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 9)
idNameGO IDScoreTop Affiliating Genes
1methionine biosynthetic processGO:000908610.5MTR, MTRR
2sulfur amino acid metabolic processGO:000009610.4MTR, MTRR
3homocysteine catabolic processGO:004341810.4CBS, MTRR
4methionine metabolic processGO:000655510.3MTHFR, MTRR
5cobalamin transportGO:001588910.2LMBRD1, TCN2
6folic acid metabolic processGO:00466559.9MTHFR, MTRR
7oxidation-reduction processGO:00551149.0CBS, MMACHC, MTHFR, MTRR
8homocysteine metabolic processGO:00506678.7CBS, MTHFR, MUT
9cobalamin metabolic processGO:00092358.0ABCD4, LMBRD1, MMACHC, MMADHC, MTR, MTRR

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

idNameGO IDScoreTop Affiliating Genes
1NADP bindingGO:00506619.4MTHFR, MTRR
2modified amino acid bindingGO:00723419.0CBS, MTHFR, MUT
3cobalamin bindingGO:00314198.5LMBRD1, MMACHC, MTR, MUT, TCN2

Sources for Homocystinuria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet