MCID: HMC030
MIFTS: 17

Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

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

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). Related phenotypes are high palate and glaucoma

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 11.7
2 homocystinuria 10.3
3 pancytopenia 10.1

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

Human phenotypes related to Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency:

32 (show all 41)
# Description HPO Frequency HPO Source Accession
1 high palate 32 occasional (7.5%) HP:0000218
2 glaucoma 32 occasional (7.5%) HP:0000501
3 cataract 32 occasional (7.5%) HP:0000518
4 retinal detachment 32 occasional (7.5%) HP:0000541
5 myopia 32 frequent (33%) HP:0000545
6 amblyopia 32 frequent (33%) HP:0000646
7 optic atrophy 32 occasional (7.5%) HP:0000648
8 dental crowding 32 hallmark (90%) HP:0000678
9 psychosis 32 occasional (7.5%) HP:0000709
10 pectus excavatum 32 frequent (33%) HP:0000767
11 pectus carinatum 32 frequent (33%) HP:0000768
12 hypertension 32 frequent (33%) HP:0000822
13 osteoporosis 32 hallmark (90%) HP:0000939
14 urticaria 32 occasional (7.5%) HP:0001025
15 ectopia lentis 32 hallmark (90%) HP:0001083
16 arachnodactyly 32 hallmark (90%) HP:0001166
17 intellectual disability 32 hallmark (90%) HP:0001249
18 seizures 32 occasional (7.5%) HP:0001250
19 joint stiffness 32 frequent (33%) HP:0001387
20 disproportionate tall stature 32 hallmark (90%) HP:0001519
21 subcutaneous hemorrhage 32 occasional (7.5%) HP:0001933
22 anorexia 32 occasional (7.5%) HP:0002039
23 esophageal varix 32 occasional (7.5%) HP:0002040
24 intracranial hemorrhage 32 occasional (7.5%) HP:0002170
25 pulmonary embolism 32 frequent (33%) HP:0002204
26 sparse scalp hair 32 frequent (33%) HP:0002209
27 gastrointestinal hemorrhage 32 occasional (7.5%) HP:0002239
28 hepatomegaly 32 occasional (7.5%) HP:0002240
29 cerebral ischemia 32 frequent (33%) HP:0002637
30 scoliosis 32 frequent (33%) HP:0002650
31 recurrent fractures 32 hallmark (90%) HP:0002757
32 kyphosis 32 frequent (33%) HP:0002808
33 genu valgum 32 frequent (33%) HP:0002857
34 elevated hepatic transaminases 32 occasional (7.5%) HP:0002910
35 abnormality of amino acid metabolism 32 hallmark (90%) HP:0004337
36 hemiplegia/hemiparesis 32 occasional (7.5%) HP:0004374
37 arterial thrombosis 32 frequent (33%) HP:0004420
38 venous thrombosis 32 frequent (33%) HP:0004936
39 abnormality of retinal pigmentation 32 occasional (7.5%) HP:0007703
40 arteriovenous malformation 32 frequent (33%) HP:0100026
41 hernia 32 occasional (7.5%) HP:0100790

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
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency ( 20301697 )
1993
2
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

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7 CNVD
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10 dbSNP
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17 ExPASy
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