MCID: HMC030
MIFTS: 7

Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

Aliases & Classifications for Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

MalaCards integrated aliases for Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency:

Name: Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency 24
Classic Homocystinuria 24

Summaries for Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

MalaCards based summary : Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency, also known as classic homocystinuria, is related to homocystinuria due to cystathionine beta-synthase deficiency and homocystinuria. An important gene associated with Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency is CBS (Cystathionine-Beta-Synthase).

GeneReviews: NBK1524

Related Diseases for Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

Diseases related to Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 homocystinuria due to cystathionine beta-synthase deficiency 11.9
2 homocystinuria 10.4
3 pancytopenia 10.3
4 thrombophilia due to thrombin defect 9.9
5 keratoconus 9.9
6 thrombosis 9.9
7 charles bonnet syndrome 9.9

Graphical network of the top 20 diseases related to Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency:



Diseases related to Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

Symptoms & Phenotypes for Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

Drugs & Therapeutics for Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

Search Clinical Trials , NIH Clinical Center for Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

Genetic Tests for Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

Anatomical Context for Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

Publications for Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

Articles related to Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency:

# Title Authors Year
1
Classic homocystinuria and keratoconus: a case report. ( 29995127 )
2018
2
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency ( 20301697 )
1993
3
Severe folate deficiency and pancytopenia in a nutritionally deprived infant and homocystinuria caused by cystathionine beta-synthase deficiency. ( 2007933 )
1991

Variations for Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

Expression for Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

Search GEO for disease gene expression data for Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency.

Pathways for Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

GO Terms for Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

Sources for Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
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55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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