MCID: HMC020
MIFTS: 55

Homocystinuria, B6-Responsive and Nonresponsive Types malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Fetal diseases, Blood diseases

Aliases & Classifications for Homocystinuria, B6-Responsive and Nonresponsive Types

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Aliases & Descriptions for Homocystinuria, B6-Responsive and Nonresponsive Types:

Name: Homocystinuria, B6-Responsive and Nonresponsive Types 52 12
Homocystinuria 11 71 48 25 27 50 39 13 68
Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 52 54 70
Cystathionine Beta Synthase Deficiency 11 25
Cystathionine Beta-Synthase Deficiency 54 70
Homocysteinemia 25 68
Cbs Deficiency 11 70
 
Homocystinuria with or Without Response to Pyridoxine 70
Cystathionine Beta-Synthase Deficiency Disease 68
Hyperhomocysteinemia Thrombotic Cbs-Related 70
Cystathionine Synthase Deficiency 11
Thrombosis, Hyperhomocysteinemic 52
Classic Homocystinuria 54
Cbsd 70

Characteristics:

Orphanet epidemiological data:

54
homocystinuria due to cystathionine beta-synthase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood

HPO:

64
homocystinuria, b6-responsive and nonresponsive types:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 236200
Disease Ontology11 DOID:9263
ICD1030 E72.11
MeSH39 D006712
NCIt45 C84765
SNOMED-CT62 11282001, 190709008
Orphanet54 ORPHA394
UMLS via Orphanet69 C0751202
ICD10 via Orphanet31 E72.1
MedGen37 C3150344

Summaries for Homocystinuria, B6-Responsive and Nonresponsive Types

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OMIM:52 Classic homocystinuria is an autosomal recessive metabolic disorder of sulfur metabolism. The clinical features of... (236200) more...

MalaCards based summary: Homocystinuria, B6-Responsive and Nonresponsive Types, also known as homocystinuria, is related to methylmalonic aciduria and homocystinuria, cblc type and homocystinuria due to mthfr deficiency, and has symptoms including abnormality of the teeth, ectopia lentis and arachnodactyly. An important gene associated with Homocystinuria, B6-Responsive and Nonresponsive Types is CBS (Cystathionine-Beta-Synthase), and among its related pathways are Folate-Alcohol and Cancer Pathway and Folate Metabolism. The drugs betaine and betaine hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and eye, and related mouse phenotypes are liver/biliary system and homeostasis/metabolism.

UniProtKB/Swiss-Prot:70 Cystathionine beta-synthase deficiency: An enzymatic deficiency resulting in altered sulfur metabolism and homocystinuria. The clinical features of untreated homocystinuria due to CBS deficiency include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome, and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine.

Genetics Home Reference:25 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.

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.

NIH Rare Diseases:48 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

Related Diseases for Homocystinuria, B6-Responsive and Nonresponsive Types

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Diseases related to Homocystinuria, B6-Responsive and Nonresponsive Types via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 97)
idRelated DiseaseScoreTop Affiliating Genes
1methylmalonic aciduria and homocystinuria, cblc type34.3CBS, MTR
2homocystinuria due to mthfr deficiency34.0MTHFR, MTR
3methylmalonic acidemia with homocystinuria12.2
4methylmalonic aciduria and homocystinuria, cbld type12.2
5methylmalonic aciduria and homocystinuria, cblf type12.2
6homocystinuria-megaloblastic anemia, cbl e type12.2
7homocystinuria-megaloblastic anemia, cblg complementation type12.1
8methylmalonic aciduria and homocystinuria, cblj type12.1
9homocysteinemia12.1
10homocystinuria caused by cystathionine beta-synthase deficiency11.9
11methylmalonic acidemia with homocystinuria type cbld11.9
12methylmalonic acidemia with homocystinuria type cblj11.8
13mental retardation, x-linked 311.7
14homocystinuria due to cbs deficiency11.4
15congenital intrinsic factor deficiency10.6MTR, MTRR
16x-linked disease10.6MTR, MTRR
17dysferlinopathy10.5MTR, MTRR
18factor v leiden thrombophilia10.5MTR, MTRR
19apraxia10.5CBS, MTHFR
20hypertensive heart disease10.4MTHFR, SERPINC1
21michels caskey syndrome10.4F5, MTHFR
22congenital stenosis of the inferior vena cava10.4F5, MTHFR
23ameloblastic carcinoma10.4F5, MTHFR
24acute zonal occult outer retinopathy10.4F5, MTHFR
25lymphatic system cancer10.4MTHFR, SERPINC1
26unicentric castleman disease10.4F5, MTHFR
27histoplasmosis10.4MTHFR, SERPINC1
28pregnancy loss, recurrent 110.4F5, MTHFR
29candidiasis, familial, 6, autosomal dominant10.4CBS, MAT1A, MTHFR
30neural tube defects, folate-sensitive10.4MTHFR, MTR, MTRR
31coloboma-obesity-hypogenitalism-mental retardation syndrome10.4MTHFR, MTR, MTRR
32catatrichy10.3F5, MTHFR
33x-linked congenital generalized hypertrichosis10.3MTHFR, MTR, MTRR
34primary pigmented nodular adrenocortical disease10.3F5, MTHFR
35intracranial arteriosclerosis10.3MTHFR, SERPINC1
36functional diarrhea10.3CBS, FBN1, MTHFR
37hepatocellular adenoma10.3F5, MTHFR
38dermatitis10.3MTHFR, SERPINC1
39cc2d2a-related meckel syndrome10.3MTR, TCN2
40sacrococcygeal teratoma10.3MTHFR, SERPINC1
41noma10.2F5, MTHFR
42hepatic fibrosis renal cysts mental retardation10.2F5, SERPINC1
43collagenous colitis10.2F5, SERPINC1
44thrombophilia due to thrombin defect10.2F5, SERPINC1
45may-hegglin anomaly10.2F5, SERPINC1
46transient cerebral ischemia10.2F5, SERPINC1
47hereditary essential tremor 510.2MTHFR, TCN2
48adrenal rest tumor10.2CBS, MTHFR, SERPINC1
49spastic paraplegia 3a10.2F5, MTHFR
50autosomal recessive type iv ehlers-danlos syndrome10.1MTR, TCN2

Graphical network of the top 20 diseases related to Homocystinuria, B6-Responsive and Nonresponsive Types:



Diseases related to homocystinuria, b6-responsive and nonresponsive types

Symptoms & Phenotypes for Homocystinuria, B6-Responsive and Nonresponsive Types

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Symptoms by clinical synopsis from OMIM:

236200

Clinical features from OMIM:

236200

Human phenotypes related to Homocystinuria, B6-Responsive and Nonresponsive Types:

 64 54 (show all 66)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the teeth64 hallmark (90%) HP:0000164
2 ectopia lentis64 54 hallmark (90%) Very frequent (99-80%) HP:0001083
3 arachnodactyly64 54 hallmark (90%) Very frequent (99-80%) HP:0001166
4 disproportionate tall stature64 54 hallmark (90%) Very frequent (99-80%) HP:0001519
5 recurrent fractures64 54 hallmark (90%) Very frequent (99-80%) HP:0002757
6 reduced bone mineral density64 hallmark (90%) HP:0004349
7 visual impairment64 typical (50%) HP:0000505
8 myopia64 54 typical (50%) Frequent (79-30%) HP:0000545
9 pectus excavatum64 54 typical (50%) Frequent (79-30%) HP:0000767
10 pectus carinatum64 54 typical (50%) Frequent (79-30%) HP:0000768
11 hypertension64 54 typical (50%) Frequent (79-30%) HP:0000822
12 limitation of joint mobility64 typical (50%) HP:0001376
13 pulmonary embolism64 54 typical (50%) Frequent (79-30%) HP:0002204
14 cerebral ischemia64 54 typical (50%) Frequent (79-30%) HP:0002637
15 scoliosis64 54 typical (50%) Frequent (79-30%) HP:0002650
16 kyphosis64 54 typical (50%) Frequent (79-30%) HP:0002808
17 genu valgum64 54 typical (50%) Frequent (79-30%) HP:0002857
18 thrombophlebitis64 typical (50%) HP:0004418
19 arterial thrombosis64 54 typical (50%) Frequent (79-30%) HP:0004420
20 abnormal hair quantity64 typical (50%) HP:0011362
21 arteriovenous malformation64 54 typical (50%) Frequent (79-30%) HP:0100026
22 cognitive impairment64 typical (50%) HP:0100543
23 abnormality of the palate64 occasional (7.5%) HP:0000174
24 glaucoma64 54 occasional (7.5%) Occasional (29-5%) HP:0000501
25 cataract64 54 occasional (7.5%) Occasional (29-5%) HP:0000518
26 retinal detachment64 54 occasional (7.5%) Occasional (29-5%) HP:0000541
27 optic atrophy64 54 occasional (7.5%) Occasional (29-5%) HP:0000648
28 behavioral abnormality64 54 occasional (7.5%) Occasional (29-5%) HP:0000708
29 urticaria64 54 occasional (7.5%) Occasional (29-5%) HP:0001025
30 seizures64 54 occasional (7.5%) Occasional (29-5%) HP:0001250
31 subcutaneous hemorrhage64 54 occasional (7.5%) Occasional (29-5%) HP:0001933
32 anorexia64 54 occasional (7.5%) Occasional (29-5%) HP:0002039
33 esophageal varix64 54 occasional (7.5%) Occasional (29-5%) HP:0002040
34 intracranial hemorrhage64 54 occasional (7.5%) Occasional (29-5%) HP:0002170
35 gastrointestinal hemorrhage64 54 occasional (7.5%) Occasional (29-5%) HP:0002239
36 hepatomegaly64 54 occasional (7.5%) Occasional (29-5%) HP:0002240
37 elevated hepatic transaminases64 54 occasional (7.5%) Occasional (29-5%) HP:0002910
38 hemiplegia/hemiparesis64 54 occasional (7.5%) Occasional (29-5%) HP:0004374
39 abnormality of retinal pigmentation64 54 occasional (7.5%) Occasional (29-5%) HP:0007703
40 hernia64 54 occasional (7.5%) Occasional (29-5%) HP:0100790
41 inguinal hernia64 HP:0000023
42 high palate64 54 Occasional (29-5%) HP:0000218
43 dental crowding64 54 Very frequent (99-80%) HP:0000678
44 cutis marmorata64 HP:0000965
45 hypopigmentation of the skin64 HP:0001010
46 intellectual disability64 54 Very frequent (99-80%) HP:0001249
47 stroke64 HP:0001297
48 hepatic steatosis64 HP:0001397
49 failure to thrive64 HP:0001508
50 mitral valve prolapse64 HP:0001634
51 myocardial infarction64 HP:0001658
52 pancreatitis64 HP:0001733
53 thromboembolism64 HP:0001907
54 homocystinuria64 HP:0002156
55 brittle hair64 HP:0002299
56 kyphoscoliosis64 HP:0002751
57 biconcave vertebral bodies64 HP:0004586
58 personality disorder64 HP:0012075
59 generalized osteoporosis64 HP:0040160
60 amblyopia54 Frequent (79-30%)
61 psychosis54 Occasional (29-5%)
62 osteoporosis54 Very frequent (99-80%)
63 joint stiffness54 Frequent (79-30%)
64 sparse scalp hair54 Frequent (79-30%)
65 abnormality of amino acid metabolism54 Very frequent (99-80%)
66 venous thrombosis54 Frequent (79-30%)

UMLS symptoms related to Homocystinuria, B6-Responsive and Nonresponsive Types:


chyluria, pneumatouria, traumatic hematuria, seizures

MGI Mouse Phenotypes related to Homocystinuria, B6-Responsive and Nonresponsive Types according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053707.4BHMT, F5, HMGCL, MAT1A, OTC, SERPINC1
2MP:00053766.8BHMT, F5, FBN1, HMGCL, MAT1A, MTHFR

Drugs & Therapeutics for Homocystinuria, B6-Responsive and Nonresponsive Types

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Drugs for Homocystinuria, B6-Responsive and Nonresponsive Types (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 30)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Betaineapproved, nutraceuticalPhase 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
2AntimetabolitesPhase 3, Phase 211774
3Hypolipidemic AgentsPhase 3, Phase 22721
4Lipid Regulating AgentsPhase 3, Phase 22702
5Gastrointestinal AgentsPhase 3, Phase 28109
6
HydroxocobalaminapprovedPhase 224813422-51-011953898, 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
7
AcetylcysteineapprovedPhase 2316616-91-112035
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
8
Folic Acidapproved, nutraceutical, vet_approvedPhase 2427959-30-36037
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
9
Cyanocobalaminapproved, nutraceuticalPhase 224968-19-944176380
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
10UbiquinonePhase 2139
11VitaminsPhase 25095
12Vitamin B ComplexPhase 24229
13Vitamin B 12Phase 2249
14Trace ElementsPhase 25802
15MicronutrientsPhase 25802
16HematinicsPhase 21630
17AntioxidantsPhase 22928
18ExpectorantsPhase 2388
19N-monoacetylcystinePhase 2316
20Protective AgentsPhase 27190
21Respiratory System AgentsPhase 24818
22Antiviral AgentsPhase 29732
23Anti-Infective AgentsPhase 221402
24AntidotesPhase 21038
25Vitamin B12NutraceuticalPhase 2249
26Vitamin B9NutraceuticalPhase 24279
27
CobalaminNutraceuticalPhase 224913408-78-16438156
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
28FolateNutraceuticalPhase 24279
29
Methylcobalaminexperimental, NutraceuticalPhase 224813422-55-4
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
30
Taurineexperimental, NutraceuticalPhase 1, Phase 227107-35-71123
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

Interventional clinical trials:

idNameStatusNCT IDPhase
1Betaine and Peroxisome Biogenesis DisordersCompletedNCT01838941Phase 3
2EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological ImpairmentUnknown statusNCT01793090Phase 2
3Homocystinuria: Treatment With N-AcetylcysteineCompletedNCT00483314Phase 2
4Betaine METABOLISM OF PATIENTS With HomocystinuriaRecruitingNCT02404337Phase 2
5Oxidative Stress Markers In Inherited Homocystinuria And The Impact Of TaurineActive, not recruitingNCT01192828Phase 1, Phase 2
6Study of Homocysteine Metabolism in HomocystinuriaCompletedNCT00004356
7Natural History Study of Cystathionine Beta-synthase Deficiency Homocystinuria (CBSDH)RecruitingNCT02998710
8Normal Values of Oxidative Stress, Taurine, and Related MarkersActive, not recruitingNCT02649777

Search NIH Clinical Center for Homocystinuria, B6-Responsive and Nonresponsive Types

Inferred drug relations via UMLS68/NDF-RT46:


Cochrane evidence based reviews: homocystinuria

Genetic Tests for Homocystinuria, B6-Responsive and Nonresponsive Types

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Genetic tests related to Homocystinuria, B6-Responsive and Nonresponsive Types:

id Genetic test Affiliating Genes
1 Homocystinuria27

Anatomical Context for Homocystinuria, B6-Responsive and Nonresponsive Types

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MalaCards organs/tissues related to Homocystinuria, B6-Responsive and Nonresponsive Types:

36
Skin, Bone, Eye

Publications for Homocystinuria, B6-Responsive and Nonresponsive Types

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Variations for Homocystinuria, B6-Responsive and Nonresponsive Types

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UniProtKB/Swiss-Prot genetic disease variations for Homocystinuria, B6-Responsive and Nonresponsive Types:

70 (show all 104)
id Symbol AA change Variation ID SNP ID
1CBSp.Pro78ArgVAR_002171rs786204608
2CBSp.Pro88SerVAR_002172
3CBSp.Lys102AsnVAR_002173rs786204609
4CBSp.Ala114ValVAR_002174rs121964964
5CBSp.Arg125GlnVAR_002175rs781444670
6CBSp.Glu131AspVAR_002176
7CBSp.Glu144LysVAR_002177rs121964966
8CBSp.Pro145LeuVAR_002178rs121964963
9CBSp.Cys165TyrVAR_002179
10CBSp.Val168MetVAR_002180rs121964970
11CBSp.Arg224HisVAR_002181rs761647392
12CBSp.Glu239LysVAR_002182
13CBSp.Thr257MetVAR_002183rs758236584
14CBSp.Ile278ThrVAR_002184rs5742905
15CBSp.Pro290LeuVAR_002185rs760912339
16CBSp.Gly307SerVAR_002186rs121964962
17CBSp.Ala331ValVAR_002187
18CBSp.Arg336CysVAR_002188rs398123151
19CBSp.Arg369HisVAR_002189rs11700812
20CBSp.Val371MetVAR_002190rs372010465
21CBSp.Lys384GluVAR_002191rs121964967
22CBSp.Asp444AsnVAR_002192rs28934891
23CBSp.Val454GluVAR_002193
24CBSp.Leu539SerVAR_002194rs121964968
25CBSp.Pro49LeuVAR_008049rs148865119
26CBSp.Arg58TrpVAR_008050rs555959266
27CBSp.Gly85ArgVAR_008051rs863223435
28CBSp.Lys102GlnVAR_008052rs34040148
29CBSp.Gly116ArgVAR_008053rs760214620
30CBSp.Arg121CysVAR_008054rs775992753
31CBSp.Arg121HisVAR_008055rs770095972
32CBSp.Arg121LeuVAR_008056rs770095972
33CBSp.Arg125TrpVAR_008057
34CBSp.Met126ValVAR_008058
35CBSp.Glu128AspVAR_008059
36CBSp.Gly139ArgVAR_008060rs121964965
37CBSp.Gly148ArgVAR_008061rs755952006
38CBSp.Gly151ArgVAR_008062rs373782713
39CBSp.Ile152MetVAR_008064
40CBSp.Ala155ThrVAR_008065
41CBSp.Glu176LysVAR_008066
42CBSp.Val180AlaVAR_008067
43CBSp.Thr191MetVAR_008068rs121964973
44CBSp.Asp198ValVAR_008069
45CBSp.Ala226ThrVAR_008070
46CBSp.Asp234AsnVAR_008071rs773734233
47CBSp.Thr262MetVAR_008072rs149119723
48CBSp.Arg266GlyVAR_008073
49CBSp.Arg266LysVAR_008074rs28934275
50CBSp.Glu302LysVAR_008076rs779270933
51CBSp.Gly305ArgVAR_008077
52CBSp.Val320AlaVAR_008078rs781567152
53CBSp.Ala331GluVAR_008079rs777919630
54CBSp.Arg336HisVAR_008080rs760417941
55CBSp.Ser352AsnVAR_008081
56CBSp.Thr353MetVAR_008082rs121964972
57CBSp.Val354MetVAR_008083rs267606146
58CBSp.Arg369CysVAR_008084rs117687681
59CBSp.Cys370TyrVAR_008085rs757920190
60CBSp.Lys384AsnVAR_008086
61CBSp.Met391IleVAR_008087
62CBSp.Thr434AsnVAR_008088
63CBSp.Ile435ThrVAR_008089
64CBSp.Arg439GlnVAR_008090rs756467921
65CBSp.Ser466LeuVAR_008091rs121964971
66CBSp.Arg491CysVAR_008092
67CBSp.Val534AspVAR_008093
68CBSp.His65ArgVAR_021790
69CBSp.Leu101ProVAR_021791rs786204757
70CBSp.Cys109ArgVAR_021792rs778220779
71CBSp.Ile143MetVAR_021793
72CBSp.Asn228LysVAR_021794
73CBSp.Thr262ArgVAR_021795
74CBSp.Cys275TyrVAR_021796
75CBSp.Leu338ProVAR_021797
76CBSp.Gly347SerVAR_021798rs771298943
77CBSp.Ser349AsnVAR_021799
78CBSp.Ala355ProVAR_021800
79CBSp.Arg379GlnVAR_021801rs763036586
80CBSp.Pro422LeuVAR_021802rs28934892
81CBSp.Leu456ProVAR_021803
82CBSp.Arg125ProVAR_046923
83CBSp.Leu154GlnVAR_046924
84CBSp.Ala155ValVAR_046925
85CBSp.Val168AlaVAR_046926
86CBSp.Met173ValVAR_046927
87CBSp.Asn228SerVAR_046928
88CBSp.Ala231ProVAR_046929
89CBSp.Ala288ProVAR_046932
90CBSp.Ala288ThrVAR_046933rs141502207
91CBSp.Ala361ThrVAR_046934rs745764562
92CBSp.Asp376AsnVAR_046935
93CBSp.Arg379TrpVAR_046936rs769080151
94CBSp.Gln526LysVAR_046937
95CBSp.Pro200LeuVAR_066099rs758712880
96CBSp.Ile278SerVAR_066100
97CBSp.Asp281AsnVAR_066101
98CBSp.Asp321ValVAR_066102
99CBSp.Ala446SerVAR_066103
100CBSp.Thr87AsnVAR_074590
101CBSp.Pro427LeuVAR_074592rs863223434
102CBSp.Val449GlyVAR_074593
103CBSp.Ser500LeuVAR_074594rs755106884
104CBSp.Leu540GlnVAR_074595

Clinvar genetic disease variations for Homocystinuria, B6-Responsive and Nonresponsive Types:

5 (show all 28)
id Gene Variation Type Significance SNP ID Assembly Location
1CBSNM_000071.2(CBS): c.919G> A (p.Gly307Ser)SNVPathogenicrs121964962GRCh37Chr 21, 44483098: 44483098
2CBSNM_000071.2(CBS): c.833T> C (p.Ile278Thr)SNVPathogenicrs5742905GRCh37Chr 21, 44483184: 44483184
3CBSNM_000071.2(CBS): c.1330G> A (p.Asp444Asn)SNVPathogenicrs28934891GRCh37Chr 21, 44478972: 44478972
4CBSNM_000071.2(CBS): c.1566delG (p.Lys523Serfs)deletionLikely pathogenicrs786204466GRCh37Chr 21, 44474080: 44474080
5CBSNM_000071.2(CBS): c.346G> A (p.Gly116Arg)SNVLikely pathogenicrs760214620GRCh37Chr 21, 44486458: 44486458
6CBSNM_000071.2(CBS): c.1136G> A (p.Arg379Gln)SNVLikely pathogenicrs763036586GRCh37Chr 21, 44480560: 44480560
7CBSNM_000071.2(CBS): c.1358+1G> ASNVLikely pathogenicrs786204679GRCh37Chr 21, 44478943: 44478943
8CBSNM_000071.2(CBS): c.302T> C (p.Leu101Pro)SNVLikely pathogenicrs786204757GRCh37Chr 21, 44488633: 44488633
9CBSNM_000071.2(CBS): c.1218delG (p.Lys406Asnfs)deletionPathogenicrs794727083GRCh37Chr 21, 44479341: 44479341
10CBSNM_000071.2(CBS): c.374G> A (p.Arg125Gln)SNVPathogenicrs781444670GRCh37Chr 21, 44486430: 44486430
11PKHD1NM_138694.3(PKHD1): c.5023delG (p.Ala1675Profs)deletionLikely pathogenicrs797044607GRCh38Chr 6, 52024787: 52024787
12CBSNM_000071.2(CBS): c.28delG (p.Val10Trpfs)deletionLikely pathogenic, Pathogenicrs779250698GRCh37Chr 21, 44492276: 44492276
13CBSNM_000071.2: c.738delGdeletionLikely pathogenicChr na, -1: -1
14CBSNM_000071.2: c.316+1G> ASNVLikely pathogenicChr na, -1: -1
15CBSNM_000071.2: c.676G> ASNVLikely pathogenicChr na, -1: -1
16CBSNM_000071.2: c.209+1G> CSNVLikely pathogenicChr na, -1: -1
17CBSNM_000071.2: c.18_36del19deletionLikely pathogenicChr na, -1: -1
18CBSNM_000071.2: c.903C> GSNVLikely pathogenicChr na, -1: -1
19CBSNM_000071.2: c.1321A> TSNVLikely pathogenicChr na, -1: -1
20CBSNM_000071.2: c.1468-1G> ASNVLikely pathogenicChr na, -1: -1
21CBSNM_000071.2: c.959T> CSNVLikely pathogenicChr na, -1: -1
22CBSNM_000071.2: c.1007G> ASNVLikely pathogenicChr na, -1: -1
23CBSNM_000071.2: c.467delTdeletionLikely pathogenicChr na, -1: -1
24CBSNM_000071.2: c.402delGdeletionLikely pathogenicChr na, -1: -1
25CBSNM_000071.2: c.19dupCduplicationPathogenicChr na, -1: -1
26CBSNM_000071.2: c.442G> ASNVLikely pathogenicChr na, -1: -1
27CBSNM_000071.2: c.954+1G> ASNVPathogenicChr na, -1: -1
28CBSNM_000071.2: c.707_708delCCinsGGTGindelLikely pathogenicChr na, -1: -1

Expression for genes affiliated with Homocystinuria, B6-Responsive and Nonresponsive Types

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Search GEO for disease gene expression data for Homocystinuria, B6-Responsive and Nonresponsive Types.

Pathways for genes affiliated with Homocystinuria, B6-Responsive and Nonresponsive Types

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Pathways related to Homocystinuria, B6-Responsive and Nonresponsive Types according to GeneCards Suite gene sharing:

(show all 11)
idSuper pathwaysScoreTop Affiliating Genes
19.9CBS, MTHFR
2
Show member pathways
9.9MTHFR, MTRR
3
Show member pathways
9.9CBS, MAT1A
4
Show member pathways
9.9MTR, MTRR
5
Show member pathways
9.2MTR, MTRR, TCN2
69.2MTR, MTRR, TCN2
7
Show member pathways
8.9MTHFR, MTR, MTRR, TCN2
8
Show member pathways
8.9BHMT, CBS, MAT1A, MTR, MTRR
9
Show member pathways
8.5CBS, MAT1A, MTHFR, MTR, OTC
10
Show member pathways
8.0BHMT, CBS, MAT1A, MTHFR, MTR, MTRR
11
Show member pathways
6.6BHMT, CBS, HMGCL, MAT1A, MTHFR, MTR

GO Terms for genes affiliated with Homocystinuria, B6-Responsive and Nonresponsive Types

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Biological processes related to Homocystinuria, B6-Responsive and Nonresponsive Types according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1homocysteine metabolic processGO:005066710.5CBS, MTHFR
2homocysteine catabolic processGO:004341810.5CBS, MTRR
3folic acid metabolic processGO:004665510.5MTHFR, MTRR
4methionine metabolic processGO:000655510.5MTHFR, MTRR
5cellular amino acid metabolic processGO:000652010.5MAT1A, MTHFR
6methionine biosynthetic processGO:000908610.5MTR, MTRR
7blood circulationGO:000801510.3F5, MTHFR
8S-adenosylmethionine metabolic processGO:004650010.1BHMT, MTHFR
9cobalamin metabolic processGO:00092359.8MTR, MTRR, TCN2
10methylationGO:00322599.8MAT1A, MTR, MTRR
11sulfur amino acid metabolic processGO:00000969.1BHMT, MAT1A, MTR, MTRR

Molecular functions related to Homocystinuria, B6-Responsive and Nonresponsive Types according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1modified amino acid bindingGO:007234110.3CBS, MTHFR
2cobalamin bindingGO:003141910.0MTR, TCN2
3S-adenosylmethionine-homocysteine S-methyltransferase activityGO:00088989.8BHMT, MTR
4NADP bindingGO:00506619.8MTHFR, MTRR

Sources for Homocystinuria, B6-Responsive and Nonresponsive Types

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet