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	homocystinuria

Disease ID	331
Disease	homocystinuria
Definition	Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)
Synonym	cystathionine synthase deficiency high urine homocystine levels homocystinuria (disorder) homocystinuria [ambiguous] homocystinuria [disease/finding] homocystinuria, nos
DOID	DOID:9263
ICD10	ICD10CM:E72.11
UMLS	C0019880
MeSH	D006712
SNOMED-CT	SNOMEDCT_US_2016_09_01:11282001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:8) C0268583 \| methylmalonic aciduria \| 5 C0268583 \| methylmalonic acidemia \| 3 C0040053 \| thrombosis \| 2 C0042373 \| vascular disease \| 2 C0027092 \| myopia \| 1 C0270922 \| demyelinating neuropathy \| 1 C0042847 \| cobalamin deficiency \| 1 C0007222 \| cardiovascular disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 27249 \| MMADHC \| GHR 4524 \| MTHFR \| GHR 4548 \| MTR \| GHR 875 \| CBS \| CTD_human;GHR 4552 \| MTRR \| CTD_human;GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 875 \| CBS \| CIPHER;CTD_human 2348 \| FOLR1 \| CIPHER 4846 \| NOS3 \| CIPHER 4552 \| MTRR \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:55) 5826 \| ABCD4 \| 2.015 \| DISEASES 37 \| ACADVL \| 1.197 \| DISEASES 11214 \| AKAP13 \| 1.338 \| DISEASES 114899 \| C1QTNF3 \| 1.26 \| DISEASES 875 \| CBS \| 6.841 \| DISEASES 1103 \| CHAT \| 1.189 \| DISEASES 63924 \| CIDEC \| 1.524 \| DISEASES 1491 \| CTH \| 4.853 \| DISEASES 1719 \| DHFR \| 1.614 \| DISEASES 1859 \| DYRK1A \| 1.771 \| DISEASES 1936 \| EEF1D \| 2.288 \| DISEASES 2108 \| ETFA \| 1.577 \| DISEASES 2153 \| F5 \| 1.817 \| DISEASES 2155 \| F7 \| 2.55 \| DISEASES 2200 \| FBN1 \| 3.443 \| DISEASES 2328 \| FMO3 \| 1.988 \| DISEASES 2592 \| GALT \| 1.371 \| DISEASES 2731 \| GLDC \| 1.7 \| DISEASES 27232 \| GNMT \| 2.638 \| DISEASES 3033 \| HADH \| 2.648 \| DISEASES 3030 \| HADHA \| 1.933 \| DISEASES 3109 \| HLA-DMB \| 1.243 \| DISEASES 3155 \| HMGCL \| 1.834 \| DISEASES 3187 \| HNRNPH1 \| 1.868 \| DISEASES 3188 \| HNRNPH2 \| 2.134 \| DISEASES 3614 \| IMPDH1 \| 1.672 \| DISEASES 3615 \| IMPDH2 \| 1.73 \| DISEASES 55788 \| LMBRD1 \| 4.356 \| DISEASES 4143 \| MAT1A \| 4.963 \| DISEASES 326625 \| MMAB \| 1.827 \| DISEASES 25974 \| MMACHC \| 6.497 \| DISEASES 22921 \| MSRB2 \| 3.29 \| DISEASES 4522 \| MTHFD1 \| 3.274 \| DISEASES 4524 \| MTHFR \| 5.904 \| DISEASES 4548 \| MTR \| 5.626 \| DISEASES 4810 \| NHS \| 2.336 \| DISEASES 5053 \| PAH \| 1.953 \| DISEASES 5095 \| PCCA \| 1.449 \| DISEASES 5096 \| PCCB \| 1.656 \| DISEASES 10401 \| PIAS3 \| 1.529 \| DISEASES 5501 \| PPP1CC \| 1.783 \| DISEASES 6189 \| RPS3A \| 1.691 \| DISEASES 6319 \| SCD \| 2.022 \| DISEASES 462 \| SERPINC1 \| 3.3 \| DISEASES 10165 \| SLC25A13 \| 2.039 \| DISEASES 6539 \| SLC6A12 \| 1.313 \| DISEASES 348932 \| SLC6A18 \| 2.237 \| DISEASES 6649 \| SOD3 \| 1.049 \| DISEASES 245711 \| SPDYA \| 2.266 \| DISEASES 7056 \| THBD \| 1.798 \| DISEASES 284486 \| THEM5 \| 1.633 \| DISEASES 84000 \| TMPRSS13 \| 1.992 \| DISEASES 11277 \| TREX1 \| 1.118 \| DISEASES 7329 \| UBE2I \| 1.213 \| DISEASES 157680 \| VPS13B \| 1.204 \| DISEASES
Locus	(Waiting for update.)

Disease ID	331
Disease	homocystinuria
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:15) HP:0012072 \| Aciduria \| 6 HP:0012120 \| Methymalonicaciduria \| 6 HP:0003219 \| Ethylmalonic aciduria \| 6 HP:0002912 \| Methylmalonic acidemia \| 3 HP:0001941 \| acidemia \| 3 HP:0001083 \| Dislocated lenses \| 2 HP:0001297 \| Cerebral vascular events \| 1 HP:0002239 \| Gastrointestinal hemorrhage \| 1 HP:0001907 \| Thromboembolic disease \| 1 HP:0000545 \| Near sightedness \| 1 HP:0000512 \| ERG abnormal \| 1 HP:0002634 \| Arteriosclerosis \| 1 HP:0003614 \| High urine trimethylamine levels \| 1 HP:0002140 \| Ischemic stroke \| 1 HP:0002584 \| Intestinal hemorrhage \| 1

Disease ID	331
Disease	homocystinuria
Manually Symptom	UMLS \| Name(Total Manually Symptoms:48) C2678504 \| osteoporosis C2063354 \| connective tissue defect C1963139 \| hypopigmentation C1962986 \| glaucoma C1962983 \| cataract C1848954 \| generalized dystonia C1402315 \| vascular lesions C1393529 \| vascular complications C1135207 \| ataxia C0947622 \| gallstones C0856169 \| endothelial dysfunction C0852949 \| arterial disease C0795687 \| cerebral thrombosis C0752303 \| urological manifestations C0598608 \| hyperhomocysteinemia C0521720 \| corneal fibrosis C0517555 \| venous thrombosis C0427086 \| involuntary movements C0422833 \| ent symptoms C0398623 \| hypercoagulability C0393593 \| dystonia C0376293 \| stigmata C0339206 \| anterior staphyloma C0268621 \| hypermethioninemia C0268617 \| homocystinemia C0233401 \| psychiatric symptoms C0162871 \| abdominal aortic aneurysm C0152137 \| phacolytic glaucoma C0149521 \| chronic pancreatitis C0042373 \| vascular disorders C0042373 \| vascular disorder C0042373 \| vascular disease C0042075 \| urologic disease C0040053 \| thrombosis C0040046 \| thrombophlebitis C0038454 \| cerebral infarction C0027092 \| myopia C0026650 \| movement disorders C0026650 \| movement disorder C0025521 \| inborn errors of metabolism C0023316 \| lenticular subluxation C0023316 \| lens subluxation C0022081 \| iritis C0018991 \| hemiplegia C0015411 \| eye manifestations C0007688 \| central retinal artery occlusion C0004153 \| atherosclerosis C0001339 \| acute pancreatitis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:4) C0040053 \| thrombosis \| 2 C0042373 \| vascular disease \| 1 C0027092 \| myopia \| 1 C0598608 \| hyperhomocysteinemia \| 1

Manually Genotype(Total Manually Genotypes:3)
Gene	Mutation	DOI	Article Title
CBS	Het del exon 11–12	doi:10.1038/gim.2011.65	Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders
CBS	c.1224-2A>C	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
CBS	p.I278T	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:4)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs117687681	18950795	875	CBS	umls:C0019880	BeFree	Birth prevalence of homocystinuria in Central Europe: frequency and pathogenicity of mutation c.1105C>T (p.R369C) in the cystathionine beta-synthase gene.	0.155731976	2009	CBS	21	43060481	G	A
rs121964971	18454451	875	CBS	umls:C0019880	BeFree	Our results show that p.S466L causes homocystinuria by affecting both the steady state level of CBS protein and by reducing the efficiency of the enzyme in vivo.	0.155731976	2008	CBS	21	43058215	G	A
rs5742905	19819175	875	CBS	umls:C0019880	BeFree	We review the evidence that in Denmark and probably certain other European countries the number of individuals identified with homocystinuria due to homozygosity for the widespread c.833T>C (p.I278T) mutation in the gene that encodes cystathionine beta-synthase (CBS) falls far short of the number of such individuals expected on the basis of the heterozygote frequency for this mutation found by molecular screening.	0.155731976	2010	CBS	21	43063074	A	G
rs5742905	20066033	875	CBS	umls:C0019880	BeFree	These findings do not appear restricted to S. cerevisiae, as proteasome inhibitors can restore significant CBS enzymatic activity to CBS alleles expressed in fibroblasts derived from homocystinuric patients and in a mouse model for homocystinuria that expresses human I278T CBS.	0.155731976	2010	CBS	21	43063074	A	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	331
Disease	homocystinuria
Case	(Waiting for update.)

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