CBSD
MCID: HMC020
MIFTS: 43

Homocystinuria, B6-Responsive and Nonresponsive Types (CBSD) malady

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

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

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

Name: Homocystinuria, B6-Responsive and Nonresponsive Types 54 13
Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 54 56 66
Cystathionine Beta-Synthase Deficiency 56 66
Homocystinuria with or Without Response to Pyridoxine 66
Cystathionine Beta-Synthase Deficiency Disease 69
Hyperhomocysteinemia Thrombotic Cbs-Related 66
Thrombosis, Hyperhomocysteinemic 54
Classic Homocystinuria 56
Cbs Deficiency 66
Cbsd 66

Characteristics:

Orphanet epidemiological data:

56
classic homocystinuria
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood;

HPO:

32
homocystinuria, b6-responsive and nonresponsive types:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 236200
Orphanet 56 ORPHA394
UMLS via Orphanet 70 C0751202
ICD10 via Orphanet 34 E72.1
MedGen 40 C3150344
MeSH 42 D006712

Summaries for Homocystinuria, B6-Responsive and Nonresponsive Types

OMIM : 54 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 due to cystathionine beta-synthase deficiency, is related to homocystinuria caused by cystathionine beta-synthase deficiency and homocystinuria due to cbs deficiency, and has symptoms including seizures, pectus excavatum and high palate. An important gene associated with Homocystinuria, B6-Responsive and Nonresponsive Types is CBS (Cystathionine-Beta-Synthase), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include skin and eye, and related phenotypes are homeostasis/metabolism and liver/biliary system

UniProtKB/Swiss-Prot : 66 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.

Related Diseases for Homocystinuria, B6-Responsive and Nonresponsive Types

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

(show top 50) (show all 85)
id Related Disease Score Top Affiliating Genes
1 homocystinuria caused by cystathionine beta-synthase deficiency 12.5
2 homocystinuria due to cbs deficiency 11.4
3 homocystinuria 10.8
4 x-linked disease 10.3 MTR MTRR
5 autosomal dominant disease 10.3 MTR MTRR
6 ezh2-related overgrowth 10.3 MTR MTRR
7 skeletal muscle regeneration 10.3 MTR MTRR
8 spinocerebellar ataxia, autosomal recessive 6 10.2 CBS MAT1A
9 hereditary sensory neuropathy 10.2 CBS MAT1A
10 homocystinuria due to mthfr deficiency 10.2 MTHFR MTR
11 methylmalonic aciduria and homocystinuria, cblc type 10.2 CBS MTR
12 stt3a-cdg and stt3b-cdg 10.2 F5 SERPINC1
13 pancreatic ductal carcinoma 10.1 F5 SERPINC1
14 mixed epithelial tumor of ovary 10.1 MTHFR SERPINC1
15 cdkn2a-related cutaneous malignant melanoma 10.1 MTR TCN2
16 lymphocytic colitis 10.1 F5 SERPINC1
17 multiple familial trichoepithelioma 10.1 F5 MTHFR
18 myh7-related myosin storage myopathy 10.1 CBS MTHFR MTR
19 spinal cord lipoma 10.1 MTHFR SERPINC1
20 absence of innominate vein 10.1 F5 MTHFR
21 deafness, autosomal recessive 45 10.1 MTHFR MTR MTRR
22 malignant cardiac peripheral nerve sheath neoplasm 10.1 HMGCL OTC
23 warburg micro syndrome 3 10.1 MTHFR MTR MTRR
24 neuronopathy, distal hereditary motor, type iid 10.1 F5 SERPINC1
25 aminoaciduria 10.1 F5 MTHFR
26 lubinsky syndrome 10.1 F5 MTHFR
27 borderline glaucoma 10.1 CBS MTHFR MTR
28 craniofaciofrontodigital syndrome 10.1 MTHFR MTR MTRR
29 supraumbilical midabdominal raphe and facial cavernous hemangiomas 10.1 F5 MTHFR
30 neuroaxonal dystrophy 10.1 F5 SERPINC1
31 vitamin b12 deficiency 10.1
32 hyperhomocysteinemia 10.1
33 lung cancer 10.1 F5 MTHFR
34 johnson hall krous syndrome 10.1 CBS FBN1
35 nystagmus 2, congenital, autosomal dominant 10.1 CBS MAT1A MTHFR
36 chronic ethmoiditis 10.1 MTHFR MTR MTRR
37 photosensitive epilepsy 10.1 F5 MTHFR
38 central congenital hypothyroidism 10.0 F5 MTHFR
39 ductal carcinoma in situ 10.0 MTHFR SERPINC1
40 czech dysplasia 10.0 F5 SERPINC1
41 intestinal disaccharidase deficiency 10.0 F5 SERPINC1
42 autosomal dominant sideroblastic anemia 10.0 CBS MTHFR MTR MTRR
43 vascular erectile tumor 10.0 F5 MTHFR SERPINC1
44 hypertrichosis 10.0 F5 MTHFR SERPINC1
45 calcaneonavicular coalition 10.0 HMGCL MTR TCN2
46 left-right axis malformations 10.0 F5 MTHFR SERPINC1
47 bullous skin disease 10.0 F5 MTHFR SERPINC1
48 lynch syndrome 10.0 F5 MTHFR SERPINC1
49 cryptosporidiosis 10.0 F5 MTHFR SERPINC1
50 angular blepharoconjunctivitis 10.0 F5 MTHFR SERPINC1

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

Symptoms by clinical synopsis from OMIM:

236200

Clinical features from OMIM:

236200

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

56 32 (show top 50) (show all 61)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 32 Occasional (29-5%) HP:0001250
2 pectus excavatum 56 32 Frequent (79-30%) HP:0000767
3 high palate 56 32 Occasional (29-5%) HP:0000218
4 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
5 pectus carinatum 56 32 Frequent (79-30%) HP:0000768
6 myopia 56 32 Frequent (79-30%) HP:0000545
7 glaucoma 56 32 Occasional (29-5%) HP:0000501
8 arachnodactyly 56 32 Very frequent (99-80%) HP:0001166
9 disproportionate tall stature 56 32 Very frequent (99-80%) HP:0001519
10 dental crowding 56 32 Very frequent (99-80%) HP:0000678
11 ectopia lentis 56 32 Very frequent (99-80%) HP:0001083
12 joint stiffness 56 Frequent (79-30%)
13 genu valgum 56 Frequent (79-30%)
14 depression 32 HP:0000716
15 hypertension 56 Frequent (79-30%)
16 failure to thrive 32 HP:0001508
17 scoliosis 56 Frequent (79-30%)
18 kyphosis 56 Frequent (79-30%)
19 inguinal hernia 32 HP:0000023
20 cataract 56 Occasional (29-5%)
21 behavioral abnormality 56 Occasional (29-5%)
22 hepatomegaly 56 Occasional (29-5%)
23 abnormality of amino acid metabolism 56 Very frequent (99-80%)
24 optic atrophy 56 Occasional (29-5%)
25 abnormality of retinal pigmentation 56 Occasional (29-5%)
26 osteoporosis 56 Very frequent (99-80%)
27 thromboembolism 32 HP:0001907
28 myocardial infarction 32 HP:0001658
29 pulmonary embolism 56 Frequent (79-30%)
30 hemiplegia/hemiparesis 56 Occasional (29-5%)
31 hernia 56 Occasional (29-5%)
32 limitation of joint mobility 32 HP:0001376
33 arteriovenous malformation 56 Frequent (79-30%)
34 hepatic steatosis 32 HP:0001397
35 elevated hepatic transaminases 56 Occasional (29-5%)
36 venous thrombosis 56 Frequent (79-30%)
37 pancreatitis 32 HP:0001733
38 anorexia 56 Occasional (29-5%)
39 cerebral ischemia 56 Frequent (79-30%)
40 psychosis 56 Occasional (29-5%)
41 retinal detachment 56 Occasional (29-5%)
42 mitral valve prolapse 32 HP:0001634
43 gastrointestinal hemorrhage 56 Occasional (29-5%)
44 amblyopia 56 Frequent (79-30%)
45 sparse scalp hair 56 Frequent (79-30%)
46 recurrent fractures 56 Very frequent (99-80%)
47 urticaria 56 Occasional (29-5%)
48 intracranial hemorrhage 56 Occasional (29-5%)
49 stroke 32 HP:0001297
50 subcutaneous hemorrhage 56 Occasional (29-5%)

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


seizures

MGI Mouse Phenotypes related to Homocystinuria, B6-Responsive and Nonresponsive Types:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.65 FBN1 HMGCL MAT1A MTHFR MTR MTRR
2 liver/biliary system MP:0005370 9.1 BHMT F5 HMGCL MAT1A OTC SERPINC1

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

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

Genetic Tests for Homocystinuria, B6-Responsive and Nonresponsive Types

Anatomical Context for Homocystinuria, B6-Responsive and Nonresponsive Types

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

39
Skin, Eye

Publications for Homocystinuria, B6-Responsive and Nonresponsive Types

Variations for Homocystinuria, B6-Responsive and Nonresponsive Types

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

66 (show top 50) (show all 104)
id Symbol AA change Variation ID SNP ID
1 CBS p.Pro78Arg VAR_002171 rs786204608
2 CBS p.Pro88Ser VAR_002172
3 CBS p.Lys102Asn VAR_002173 rs786204609
4 CBS p.Ala114Val VAR_002174 rs121964964
5 CBS p.Arg125Gln VAR_002175 rs781444670
6 CBS p.Glu131Asp VAR_002176
7 CBS p.Glu144Lys VAR_002177 rs121964966
8 CBS p.Pro145Leu VAR_002178 rs121964963
9 CBS p.Cys165Tyr VAR_002179
10 CBS p.Val168Met VAR_002180 rs121964970
11 CBS p.Arg224His VAR_002181 rs761647392
12 CBS p.Glu239Lys VAR_002182
13 CBS p.Thr257Met VAR_002183 rs758236584
14 CBS p.Ile278Thr VAR_002184 rs5742905
15 CBS p.Pro290Leu VAR_002185 rs760912339
16 CBS p.Gly307Ser VAR_002186 rs121964962
17 CBS p.Ala331Val VAR_002187
18 CBS p.Arg336Cys VAR_002188 rs398123151
19 CBS p.Arg369His VAR_002189 rs11700812
20 CBS p.Val371Met VAR_002190 rs372010465
21 CBS p.Lys384Glu VAR_002191 rs121964967
22 CBS p.Asp444Asn VAR_002192 rs28934891
23 CBS p.Val454Glu VAR_002193
24 CBS p.Leu539Ser VAR_002194 rs121964968
25 CBS p.Pro49Leu VAR_008049 rs148865119
26 CBS p.Arg58Trp VAR_008050 rs555959266
27 CBS p.Gly85Arg VAR_008051 rs863223435
28 CBS p.Lys102Gln VAR_008052 rs34040148
29 CBS p.Gly116Arg VAR_008053 rs760214620
30 CBS p.Arg121Cys VAR_008054 rs775992753
31 CBS p.Arg121His VAR_008055 rs770095972
32 CBS p.Arg121Leu VAR_008056 rs770095972
33 CBS p.Arg125Trp VAR_008057
34 CBS p.Met126Val VAR_008058
35 CBS p.Glu128Asp VAR_008059
36 CBS p.Gly139Arg VAR_008060 rs121964965
37 CBS p.Gly148Arg VAR_008061 rs755952006
38 CBS p.Gly151Arg VAR_008062 rs373782713
39 CBS p.Ile152Met VAR_008064
40 CBS p.Ala155Thr VAR_008065
41 CBS p.Glu176Lys VAR_008066
42 CBS p.Val180Ala VAR_008067
43 CBS p.Thr191Met VAR_008068 rs121964973
44 CBS p.Asp198Val VAR_008069
45 CBS p.Ala226Thr VAR_008070
46 CBS p.Asp234Asn VAR_008071 rs773734233
47 CBS p.Thr262Met VAR_008072 rs149119723
48 CBS p.Arg266Gly VAR_008073
49 CBS p.Arg266Lys VAR_008074 rs28934275
50 CBS p.Glu302Lys VAR_008076 rs779270933

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

6 (show all 45)
id Gene Variation Type Significance SNP ID Assembly Location
1 CBS NM_000071.2(CBS): c.919G> A (p.Gly307Ser) single nucleotide variant Pathogenic rs121964962 GRCh37 Chromosome 21, 44483098: 44483098
2 CBS NM_000071.2(CBS): c.833T> C (p.Ile278Thr) single nucleotide variant Pathogenic rs5742905 GRCh37 Chromosome 21, 44483184: 44483184
3 CBS NM_000071.2(CBS): c.430G> A (p.Glu144Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121964966 GRCh37 Chromosome 21, 44486374: 44486374
4 CBS NM_000071.2(CBS): c.797G> A (p.Arg266Lys) single nucleotide variant Pathogenic rs121964969 GRCh37 Chromosome 21, 44484041: 44484041
5 CBS NM_000071.2(CBS): c.1330G> A (p.Asp444Asn) single nucleotide variant Pathogenic rs28934891 GRCh37 Chromosome 21, 44478972: 44478972
6 CBS NM_000071.2(CBS): c.1224-2A> C single nucleotide variant Pathogenic rs375846341 GRCh37 Chromosome 21, 44479080: 44479080
7 CBS NM_000071.2(CBS): c.1058C> T (p.Thr353Met) single nucleotide variant Pathogenic/Likely pathogenic rs121964972 GRCh37 Chromosome 21, 44480638: 44480638
8 CBS NM_000071.2(CBS): c.1006C> T (p.Arg336Cys) single nucleotide variant Pathogenic rs398123151 GRCh37 Chromosome 21, 44482454: 44482454
9 CBS NM_000071.2(CBS): c.1566delG (p.Lys523Serfs) deletion Likely pathogenic rs786204466 GRCh37 Chromosome 21, 44474080: 44474080
10 CBS NM_000071.2(CBS): c.1358+1G> A single nucleotide variant Likely pathogenic rs786204679 GRCh37 Chromosome 21, 44478943: 44478943
11 CBS NM_000071.2(CBS): c.1136G> A (p.Arg379Gln) single nucleotide variant Pathogenic/Likely pathogenic rs763036586 GRCh37 Chromosome 21, 44480560: 44480560
12 CBS NM_000071.2(CBS): c.1039G> A (p.Gly347Ser) single nucleotide variant Pathogenic/Likely pathogenic rs771298943 GRCh37 Chromosome 21, 44482421: 44482421
13 CBS NM_000071.2(CBS): c.770C> T (p.Thr257Met) single nucleotide variant Pathogenic/Likely pathogenic rs758236584 GRCh37 Chromosome 21, 44484068: 44484068
14 CBS NM_000071.2(CBS): c.689delT (p.Leu230Argfs) deletion Pathogenic/Likely pathogenic rs775351239 GRCh37 Chromosome 21, 44485360: 44485360
15 CBS NM_000071.2(CBS): c.667-14_667-7del8 deletion Pathogenic/Likely pathogenic rs764160782 GRCh37 Chromosome 21, 44485389: 44485396
16 CBS NM_000071.2(CBS): c.362G> A (p.Arg121His) single nucleotide variant Likely pathogenic rs770095972 GRCh38 Chromosome 21, 43066332: 43066332
17 CBS NM_000071.2(CBS): c.346G> A (p.Gly116Arg) single nucleotide variant Likely pathogenic rs760214620 GRCh37 Chromosome 21, 44486458: 44486458
18 CBS NM_000071.2(CBS): c.306G> C (p.Lys102Asn) single nucleotide variant Likely pathogenic rs786204609 GRCh37 Chromosome 21, 44488629: 44488629
19 CBS NM_000071.2(CBS): c.302T> C (p.Leu101Pro) single nucleotide variant Likely pathogenic rs786204757 GRCh37 Chromosome 21, 44488633: 44488633
20 CBS NM_000071.2(CBS): c.233C> G (p.Pro78Arg) single nucleotide variant Likely pathogenic rs786204608 GRCh37 Chromosome 21, 44488702: 44488702
21 CBS NM_000071.2(CBS): c.1218delG (p.Lys406Asnfs) deletion Pathogenic rs794727083 GRCh37 Chromosome 21, 44479341: 44479341
22 CBS NM_000071.2(CBS): c.374G> A (p.Arg125Gln) single nucleotide variant Pathogenic rs781444670 GRCh37 Chromosome 21, 44486430: 44486430
23 CBS NM_000071.2(CBS): c.785C> T (p.Thr262Met) single nucleotide variant Pathogenic/Likely pathogenic rs149119723 GRCh37 Chromosome 21, 44484053: 44484053
24 PKHD1 NM_138694.3(PKHD1): c.5023delG (p.Ala1675Profs) deletion Likely pathogenic rs797044607 GRCh37 Chromosome 6, 51889585: 51889585
25 CBS NM_000071.2(CBS): c.1111G> A (p.Val371Met) single nucleotide variant Pathogenic/Likely pathogenic rs372010465 GRCh38 Chromosome 21, 43060475: 43060475
26 CBS NM_000071.2(CBS): c.969G> A (p.Trp323Ter) single nucleotide variant Pathogenic rs863223432 GRCh38 Chromosome 21, 43062381: 43062381
27 CBS NM_000071.2(CBS): c.162G> A (p.Trp54Ter) single nucleotide variant Likely pathogenic rs199948079 GRCh37 Chromosome 21, 44492142: 44492142
28 CBS NM_000071.2(CBS): c.146C> T (p.Pro49Leu) single nucleotide variant Pathogenic/Likely pathogenic rs148865119 GRCh37 Chromosome 21, 44492158: 44492158
29 CBS NM_000071.2(CBS): c.28delG (p.Val10Trpfs) deletion Pathogenic/Likely pathogenic rs779250698 GRCh37 Chromosome 21, 44492276: 44492276
30 CBS NM_000071.2(CBS): c.1468-1G> A single nucleotide variant Likely pathogenic rs1057516895 GRCh38 Chromosome 21, 43056888: 43056888
31 CBS NM_000071.2(CBS): c.1321A> T (p.Lys441Ter) single nucleotide variant Likely pathogenic rs1057516645 GRCh38 Chromosome 21, 43058871: 43058871
32 CBS NM_000071.2(CBS): c.1007G> A (p.Arg336His) single nucleotide variant Likely pathogenic rs760417941 GRCh37 Chromosome 21, 44482453: 44482453
33 CBS NM_000071.2(CBS): c.959T> C (p.Val320Ala) single nucleotide variant Likely pathogenic rs781567152 GRCh37 Chromosome 21, 44482501: 44482501
34 CBS NM_000071.2(CBS): c.954+1G> A single nucleotide variant Pathogenic rs1057517373 GRCh37 Chromosome 21, 44483062: 44483062
35 CBS NM_000071.2(CBS): c.903C> G (p.Tyr301Ter) single nucleotide variant Likely pathogenic rs746575551 GRCh37 Chromosome 21, 44483114: 44483114
36 CBS NM_000071.2(CBS): c.738delG (p.Lys247Serfs) deletion Pathogenic/Likely pathogenic rs766453711 GRCh37 Chromosome 21, 44484100: 44484100
37 CBS NM_000071.2(CBS): c.707_708delCCinsGGTG (p.Thr236Argfs) indel Likely pathogenic rs1057517435 GRCh37 Chromosome 21, 44485341: 44485342
38 CBS NM_000071.2(CBS): c.676G> A (p.Ala226Thr) single nucleotide variant Likely pathogenic rs763835246 GRCh37 Chromosome 21, 44485373: 44485373
39 CBS NM_000071.2(CBS): c.467delT (p.Leu156Argfs) deletion Likely pathogenic rs767036273 GRCh37 Chromosome 21, 44485790: 44485790
40 CBS NM_000071.2(CBS): c.442G> A (p.Gly148Arg) single nucleotide variant Likely pathogenic rs755952006 GRCh38 Chromosome 21, 43066252: 43066252
41 CBS NM_000071.2(CBS): c.402delG (p.Thr135Argfs) deletion Likely pathogenic rs1057517083 GRCh37 Chromosome 21, 44486402: 44486402
42 CBS NM_000071.2(CBS): c.316+1G> A single nucleotide variant Likely pathogenic rs1057516256 GRCh38 Chromosome 21, 43068508: 43068508
43 CBS NM_000071.2(CBS): c.209+1G> C single nucleotide variant Likely pathogenic rs751464024 GRCh38 Chromosome 21, 43071984: 43071984
44 CBS NM_000071.2(CBS): c.18_36del19 (p.Glu9Alafs) deletion Likely pathogenic rs1057516552 GRCh37 Chromosome 21, 44492268: 44492286
45 CBS NM_000071.2(CBS): c.19dupC (p.Gln7Profs) duplication Pathogenic rs1057517198 GRCh37 Chromosome 21, 44492285: 44492285

Expression for Homocystinuria, B6-Responsive and Nonresponsive Types

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

Pathways for Homocystinuria, B6-Responsive and Nonresponsive Types

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

(show all 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 BHMT CBS HMGCL MAT1A MTHFR MTR
2
Show member pathways
12.4 MTHFR MTR MTRR TCN2
3
Show member pathways
11.97 CBS MAT1A MTHFR MTR OTC
4
Show member pathways
11.77 CBS MAT1A MTHFR MTR MTRR TCN2
5
Show member pathways
11.64 BHMT CBS MAT1A MTR MTRR
6
Show member pathways
11.62 MTR MTRR TCN2
7 11.58 BHMT CBS HMGCL OTC
8
Show member pathways
11.32 BHMT CBS MAT1A MTHFR MTR MTRR
9
Show member pathways
10.93 CBS MAT1A
10 10.89 MTR MTRR TCN2
11
Show member pathways
10.39 CBS MTHFR
12
Show member pathways
10.18 MTR MTRR

GO Terms for Homocystinuria, B6-Responsive and Nonresponsive Types

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.67 F5 FBN1 SERPINC1
2 methylation GO:0032259 9.67 BHMT MAT1A MTR MTRR
3 folic acid metabolic process GO:0046655 9.48 MTHFR MTRR
4 S-adenosylmethionine metabolic process GO:0046500 9.46 BHMT MTHFR
5 methionine metabolic process GO:0006555 9.43 MTHFR MTRR
6 cobalamin metabolic process GO:0009235 9.43 MTR MTRR TCN2
7 homocysteine metabolic process GO:0050667 9.4 CBS MTHFR
8 methionine biosynthetic process GO:0009086 9.33 BHMT MTR MTRR
9 homocysteine catabolic process GO:0043418 9.32 CBS MTRR
10 cellular amino acid biosynthetic process GO:0008652 9.26 CBS MTR MTRR OTC
11 sulfur amino acid metabolic process GO:0000096 8.92 BHMT MAT1A MTR MTRR

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

id Name GO ID Score Top Affiliating Genes
1 NADP binding GO:0050661 9.16 MTHFR MTRR
2 cobalamin binding GO:0031419 8.96 MTR TCN2
3 modified amino acid binding GO:0072341 8.62 CBS MTHFR

Sources for Homocystinuria, B6-Responsive and Nonresponsive Types

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....