MCID: HMC002
MIFTS: 54

Homocystinuria

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Homocystinuria

MalaCards integrated aliases for Homocystinuria:

Name: Homocystinuria 11 19 42 75 28 53 5 43 14 71
Cystathionine Beta Synthase Deficiency 11 42
Homocysteinemia 42 71
Cystathionine Beta-Synthase Deficiency Disease 71
Cystathionine Synthase Deficiency 11
Cbs Deficiency 11

Classifications:



External Ids:

Disease Ontology 11 DOID:9263
MeSH 43 D006712
NCIt 49 C84765
SNOMED-CT 68 190709008
UMLS 71 C0019880 C0751202 C3495426

Summaries for Homocystinuria

MedlinePlus Genetics: 42 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.Less common forms of homocystinuria can cause intellectual disability, failure to grow and gain weight at the expected rate (failure to thrive), seizures, problems with movement, and a blood disorder called megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number of red blood cells (anemia), and the remaining red blood cells are larger than normal (megaloblastic).The signs and symptoms of homocystinuria typically develop within the first year of life, although some mildly affected people may not develop features until later in childhood or adulthood.

MalaCards based summary: Homocystinuria, also known as cystathionine beta synthase deficiency, is related to homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity and methylmalonic aciduria and homocystinuria, cblf type, and has symptoms including seizures An important gene associated with Homocystinuria is CBS (Cystathionine Beta-Synthase), and among its related pathways/superpathways are Disease and Metabolism. The drugs Mecobalamin and Hydroxocobalamin have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and kidney, and related phenotypes are Increased shRNA abundance and homeostasis/metabolism

GARD: 19 Homocystinuria refers to a group of inherited disorders in which the body is unable to process certain building blocks of proteins (amino acids) properly. This leads to increased amounts of homocysteine and other amnio acids in the blood and urine. The most common type of genetic Homocystinuria, called CBS deficiency, is caused by the lack of an enzyme known as cystathionine beta-synthase (CBS). Most states in the United States test for Homocystinuria due to CBS deficiency at birth by newborn screening. Other types are less common, and are caused by different missing or non-working enzymes. Homocystinuria can affect the eyes, skeleton, central nervous system and the blood clotting system. Genetic changes in the MTHFR, MTR, MTRR and MMADHC genes can cause Homocystinuria. All these forms of Homocystinuria are inherited in an autosomal recessive manner.

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.

Wikipedia: 75 Homocystinuria or HCU is an inherited disorder of the metabolism of the amino acid methionine due to a... more...

Related Diseases for Homocystinuria

Diseases in the Homocystinuria family:

Homocystinuria Due to Defect in Methylation Cbl E

Diseases related to Homocystinuria via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 473)
# Related Disease Score Top Affiliating Genes
1 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 33.1 MTR MTHFR
2 methylmalonic aciduria and homocystinuria, cblf type 33.0 LMBRD1 ABCD4
3 methylmalonic aciduria and homocystinuria, cbld type 32.8 MTR MMUT MMADHC MMACHC LMBRD1 ABCD4
4 methylmalonic aciduria and homocystinuria, cblc type 32.6 MTR MTHFR MMUT MMADHC MMACHC LMBRD1
5 methylmalonic aciduria and homocystinuria, cblx type 32.3 MTR MTHFR MMACHC BHMT
6 homocysteinemia 32.2 MTRR MTR MTHFR F5 CBS
7 transcobalamin ii deficiency 31.9 TCN2 MMADHC LMBRD1
8 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 31.9 MMUT MMACHC
9 methylmalonic aciduria, cblb type 31.7 MMADHC LMBRD1
10 ectopia lentis 2, isolated, autosomal recessive 31.7 SUOX FBN1 CBS
11 hyperhomocysteinemia 31.7 THBD SERPINC1 MTRR MTR MTHFR F5
12 methylmalonic aciduria, cbla type 31.5 MTRR MTR MTHFR MMUT MMADHC LMBRD1
13 disorders of intracellular cobalamin metabolism 31.2 MTR MMACHC ABCD4
14 isolated ectopia lentis 31.2 SUOX FBN1 CBS
15 marfan syndrome 31.1 MTRR MTR MTHFR FBN1 CBS
16 hypermethioninemia 31.0 OTC MTR MTHFR MMADHC MMACHC MAT1A
17 thrombophilia due to thrombin defect 30.9 THBD SERPINC1 MTHFR F5 CBS
18 thrombosis 30.9 THBD SERPINC1 MTHFR F5 CBS
19 methylmalonic acidemia 30.8 TCN2 OTC MTRR MTR MTHFR MMUT
20 lens subluxation 30.7 SUOX FBN1 CBS
21 sagittal sinus thrombosis 30.7 SERPINC1 MTHFR F5
22 neural tube defects, folate-sensitive 30.7 MTRR MTR MTHFR
23 hemolytic-uremic syndrome 30.7 THBD SERPINC1 MMACHC
24 pulmonary embolism 30.6 THBD SERPINC1 MTHFR F5
25 arteriosclerosis 30.5 THBD SERPINC1 FBN1 CBS
26 megaloblastic anemia 30.5 TCN2 MTRR MTR MTHFR MMUT MMADHC
27 glycine n-methyltransferase deficiency 30.5 MTHFR MAT1A CBS BHMT
28 intracranial thrombosis 30.4 SERPINC1 MTHFR F5
29 vascular disease 30.4 THBD SERPINC1 MTRR MTR MTHFR FBN1
30 stroke, ischemic 30.4 THBD SERPINC1 MTHFR FBN1 F5 CBS
31 retinal artery occlusion 30.4 SERPINC1 MTHFR F5
32 cerebrovascular disease 30.4 TCN2 MTRR MTR MTHFR F5 CBS
33 central retinal artery occlusion 30.4 SERPINC1 MTHFR
34 thrombophilia 30.3 THBD SERPINC1 MTHFR F5 CBS
35 peripheral vascular disease 30.3 THBD SERPINC1 MTHFR CBS
36 phenylketonuria 30.3 OTC MMUT CBS BTD
37 thrombophlebitis 30.3 SERPINC1 MTHFR F5
38 amaurosis fugax 30.3 MTHFR F5
39 methionine adenosyltransferase i/iii deficiency 30.2 MAT1A CBS
40 livedoid vasculitis 30.2 SERPINC1 MTHFR
41 lipoprotein quantitative trait locus 30.2 THBD SERPINC1 MTRR MTR MTHFR FBN1
42 neural tube defects 30.1 TCN2 MTRR MTR MTHFR MMUT CBS
43 thrombophilia due to activated protein c resistance 30.1 THBD SERPINC1 MTHFR F5
44 pregnancy loss, recurrent 1 30.0 MTHFR F5
45 antithrombin iii deficiency 30.0 SERPINC1 MTHFR F5
46 legg-calve-perthes disease 30.0 THBD SERPINC1 F5
47 factor xi deficiency 30.0 THBD SERPINC1 F5
48 down syndrome 30.0 MTRR MTR MTHFR CBS
49 eclampsia 30.0 THBD SERPINC1 MTHFR
50 portal vein thrombosis 30.0 THBD SERPINC1 MTHFR F5

Graphical network of the top 20 diseases related to Homocystinuria:



Diseases related to Homocystinuria

Symptoms & Phenotypes for Homocystinuria

UMLS symptoms related to Homocystinuria:


seizures

GenomeRNAi Phenotypes related to Homocystinuria according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.92 F5 MMUT MTHFR MTR

MGI Mouse Phenotypes related to Homocystinuria:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.2 BHMT BTD CBS F5 FBN1 HMGCL
2 growth/size/body region MP:0005378 10.13 BHMT BTD CBS F5 FBN1 HMGCL
3 liver/biliary system MP:0005370 10.07 BHMT CBS F5 HMGCL MAT1A MMUT
4 renal/urinary system MP:0005367 10.06 BHMT BTD CBS FBN1 MMACHC MMUT
5 cardiovascular system MP:0005385 9.85 CBS F5 FBN1 HMGCL LMBRD1 MMACHC
6 mortality/aging MP:0010768 9.77 CBS F5 FBN1 HMGCL LMBRD1 MMACHC
7 integument MP:0010771 9.28 ABCD4 BTD CBS F5 FBN1 MMACHC

Drugs & Therapeutics for Homocystinuria

Drugs for Homocystinuria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mecobalamin Approved, Investigational Phase 3 13422-55-4
2
Hydroxocobalamin Approved Phase 3 13422-51-0 15589840 44475014
3
Levoleucovorin Approved, Experimental, Investigational Phase 3 68538-85-2, 58-05-9, 73951-54-9 149436 6006
4
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 24892734 16212801 44176380
5
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
6
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
7
Cobalamin Experimental Phase 3 13408-78-1 6857388
8 Vitamin B12 Phase 3
9 Vitamin B 12 Phase 3
10 Vitamins Phase 3
11 Folate Phase 3
12 Vitamin B9 Phase 3
13 Vitamin B6 Phase 3
14 Vitamin B Complex Phase 3
15 Vitamin B 6 Phase 3
16
Pyridoxal Experimental, Nutraceutical Phase 3 66-72-8 1050
17
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 581 12035
18
Acetaminophen Approved Phase 1, Phase 2 103-90-2 1983
19
N,N,N-trimethylglycinium Approved, Experimental, Investigational, Nutraceutical Phase 2 6915-17-9, 107-43-7 248
20
Taurine Approved, Nutraceutical Phase 1, Phase 2 107-35-7 1123
21
Cysteine Approved, Nutraceutical Phase 1, Phase 2 52-90-4 594 5862
22 Antimetabolites Phase 2
23 Hypolipidemic Agents Phase 2
24 Lipid Regulating Agents Phase 2
25 Gastrointestinal Agents Phase 2
26 Pharmaceutical Solutions Phase 1, Phase 2
27 Antiviral Agents Phase 1, Phase 2
28 Anti-Infective Agents Phase 1, Phase 2
29 Expectorants Phase 1, Phase 2
30 Antidotes Phase 1, Phase 2
31 N-monoacetylcystine Phase 1, Phase 2
32 Respiratory System Agents Phase 1, Phase 2
33 Antioxidants Phase 1, Phase 2
34 Protective Agents Phase 1, Phase 2
35 Analgesics Phase 1, Phase 2
36 Liver Extracts Phase 1, Phase 2
37 Antipyretics Phase 1, Phase 2
38 Analgesics, Non-Narcotic Phase 1, Phase 2
39
Racemethionine Approved, Experimental, Investigational, Nutraceutical Phase 1 59-51-8, 63-68-3, 348-67-4 6137

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 CSP #453 - Homocysteinemia in Kidney and Endstage Renal Disease Study (HOST) Completed NCT00032435 Phase 3 PAL-40 Active;PAL-40 Placebo
2 Homocystinuria: Treatment With N-Acetylcysteine Completed NCT00483314 Phase 2 N-acetylcysteine
3 Betaine METABOLISM OF PATIENTS With Homocystinuria Completed NCT02404337 Phase 2 Betaine
4 Oxidative Stress Markers In Inherited Homocystinuria And The Impact Of Taurine Completed NCT01192828 Phase 1, Phase 2 taurine
5 Phase 2, Double-Blind, Placebo Controlled Clinical Trial of EPI-743 in Subjects With Cobalamin C Defect Completed NCT01793090 Phase 2 Epi-743
6 A Phase 1/2 Multiple Ascending-Dose Study in Subjects With Homocystinuria Due to Cystathionine β-Synthase (CBS) Deficiency to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics of ACN00177 Recruiting NCT05154890 Phase 1, Phase 2 Pegtarviliase
7 A Double Blind, Randomized, Placebo-controlled, Phase 1/2 Study to Assess the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Effects on Clinical Outcomes of Pegtibatinase (TVT-058), Administered Subcutaneously in Patients With Cystathionine Beta-Synthase Deficient Homocystinuria (COMPOSE) Recruiting NCT03406611 Phase 1, Phase 2 Pegtibatinase;Placebo
8 Functional Consequences and Therapeutic Intervention in Hampered Production of Cysteine, Glutathione and Taurine in Classical Homocystinuria Suspended NCT04015557 Phase 1, Phase 2 Acetaminophen;N-acetylcysteine
9 A Phase 1, Dose-escalation, Randomized, Placebo-Controlled Study to Assess the Safety, Tolerability, and Pharmacodynamics of SYNB1353 in Healthy Volunteers Recruiting NCT05462132 Phase 1 SYNB1353
10 Study of Homocysteine Metabolism in Homocystinuria Completed NCT00004356
11 Effects of Exercise on Metabolic Parameters in Treated Patients With Classical Homocystinuria: a Research Project on a Small Sample Size, Compared to Healthy Controls. Completed NCT04021732
12 The Effects of Vitamin Supplementation Containing L-Methylfolate (Ocufolin® Forte) on Retinal Venous Pressure and Homocysteine Plasma Levels in Patients With Glaucoma Completed NCT05080153
13 A Multicenter, Observational, Prospective, Natural History Study of Homocystinuria Due to Cystathionine Beta-synthase Deficiency in Pediatric and Adult Patients Recruiting NCT02998710

Search NIH Clinical Center for Homocystinuria

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Betaine
Betaine Hydrochloride

Cochrane evidence based reviews: homocystinuria

Genetic Tests for Homocystinuria

Genetic tests related to Homocystinuria:

# Genetic test Affiliating Genes
1 Homocystinuria 28

Anatomical Context for Homocystinuria

Organs/tissues related to Homocystinuria:

MalaCards : Eye, Liver, Kidney, Endothelial, Heart, Brain, Smooth Muscle

Publications for Homocystinuria

Articles related to Homocystinuria:

(show top 50) (show all 2427)
# Title Authors PMID Year
1
Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70. 53 62 5
20066033 2010
2
Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria. 53 62 5
16307898 2006
3
High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia. 53 62 5
16470595 2006
4
Cystathionine beta-synthase T833C/844INS68 polymorphism: a family-based study on mentally retarded children. 53 62 5
16375773 2005
5
Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria. 53 62 5
16205833 2005
6
Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria. 53 62 5
15146473 2004
7
Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype. 53 62 5
14635102 2003
8
Structural insights into mutations of cystathionine beta-synthase. 53 62 5
12686134 2003
9
Disposition of homocysteine in subjects heterozygous for homocystinuria due to cystathionine beta-synthase deficiency: relationship between genotype and phenotype. 53 62 5
11343305 2001
10
Mutations in the regulatory domain of cystathionine beta synthase can functionally suppress patient-derived mutations in cis. 53 62 5
11230183 2001
11
Molecular and clinical characterisation of homocystinuria in two Austrian families with cystathionine beta-synthase deficiency. 53 62 5
11774777 2001
12
Deletion of the regulatory domain in the pyridoxal phosphate-dependent heme protein cystathionine beta-synthase alleviates the defect observed in a catalytic site mutant. 53 62 5
10531322 1999
13
Molecular genetic analysis of pyridoxine-nonresponsive homocystinuric siblings with different blood methionine levels during the neonatal period. 53 62 5
10687314 1999
14
The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment. 53 62 5
10364517 1999
15
Cystathionine beta-synthase mutations in homocystinuria. 53 62 5
10338090 1999
16
Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria. 53 62 5
9156316 1997
17
High prevalence of a mutation in the cystathionine beta-synthase gene. 53 62 5
8940271 1996
18
A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene. 53 62 5
8528202 1995
19
A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. 53 62 5
7611293 1995
20
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations. 53 62 5
7762555 1995
21
Diagnosis of Classic Homocystinuria in Two Boys Presenting with Acute Cerebral Venous Thrombosis and Neurologic Dysfunction after Normal Newborn Screening. 62 5
34449521 2021
22
Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency. 62 5
33985475 2021
23
Telomere length and mtDNA copy number in human cystathionine β-synthase deficiency. 62 5
32768567 2020
24
Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases. 62 5
32232970 2020
25
The Spectrum of Mutations of Homocystinuria in the MENA Region. 62 5
32245022 2020
26
Analysis of the Qatari R336C cystathionine β-synthase protein in mice. 62 5
31240737 2019
27
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants. 62 5
31301157 2019
28
Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial. 62 5
30873612 2019
29
Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria. 62 5
29508359 2018
30
CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients. 62 5
29352562 2018
31
Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization. 62 5
29326875 2018
32
Isolated aortic root dilation in homocystinuria. 62 5
28980096 2018
33
The c.797 G>A (p.R266K) cystathionine β-synthase mutation causes homocystinuria by affecting protein stability. 62 5
28488385 2017
34
Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C. 62 5
26464485 2015
35
Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate. 62 5
25331909 2015
36
Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS. 62 5
25218699 2015
37
Diagnosis of cystathionine beta-synthase deficiency by genetic analysis. 62 5
25455305 2014
38
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients. 62 5
23974653 2014
39
High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands. 62 5
24211323 2014
40
Characterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for wild-type and mutant proteins. 62 5
23981774 2013
41
Conformational properties of nine purified cystathionine β-synthase mutants. 62 5
22612060 2012
42
Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria. 62 5
21517828 2012
43
Homocystinuria in Taiwan: an inordinately high prevalence in an Austronesian aboriginal tribe, Tao. 62 5
22353391 2012
44
Surrogate genetics and metabolic profiling for characterization of human disease alleles. 62 5
22267502 2012
45
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients. 62 5
21520339 2011
46
Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones. 62 5
20490928 2011
47
CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient. 62 5
21240075 2011
48
Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity. 62 5
20506325 2010
49
Chemical chaperone rescue of mutant human cystathionine beta-synthase. 62 5
17540596 2007
50
A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population. 62 5
16786517 2006

Variations for Homocystinuria

ClinVar genetic disease variations for Homocystinuria:

5 (show top 50) (show all 53)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CBS NM_000071.3(CBS):c.684C>A (p.Asn228Lys) SNV Pathogenic
917816 rs1464223176 GRCh37: 21:44485365-44485365
GRCh38: 21:43065255-43065255
2 CBS NM_000071.3(CBS):c.684C>G (p.Asn228Lys) SNV Pathogenic
928858 rs1464223176 GRCh37: 21:44485365-44485365
GRCh38: 21:43065255-43065255
3 CBS NM_000071.3(CBS):c.667-14_667-7del DEL Pathogenic
188911 rs764160782 GRCh37: 21:44485389-44485396
GRCh38: 21:43065279-43065286
4 CBS NM_000071.3(CBS):c.770C>T (p.Thr257Met) SNV Pathogenic
188927 rs758236584 GRCh37: 21:44484068-44484068
GRCh38: 21:43063958-43063958
5 CBS NM_000071.3(CBS):c.526G>A (p.Glu176Lys) SNV Pathogenic
633144 rs762065361 GRCh37: 21:44485731-44485731
GRCh38: 21:43065621-43065621
6 CBS NM_000071.3(CBS):c.1566del (p.Lys523fs) DEL Pathogenic
188784 rs786204466 GRCh37: 21:44474080-44474080
GRCh38: 21:43053970-43053970
7 CBS NM_000071.3(CBS):c.373C>T (p.Arg125Trp) SNV Pathogenic
340089 rs886057100 GRCh37: 21:44486431-44486431
GRCh38: 21:43066321-43066321
8 CBS NM_000071.3(CBS):c.19dup (p.Gln7fs) DUP Pathogenic
371345 rs748695461 GRCh37: 21:44492284-44492285
GRCh38: 21:43072174-43072175
9 CBS NM_000071.3(CBS):c.954+1G>A SNV Pathogenic
371568 rs1057517373 GRCh37: 21:44483062-44483062
GRCh38: 21:43062952-43062952
10 CBS NM_000071.3(CBS):c.302T>C (p.Leu101Pro) SNV Pathogenic
189185 rs786204757 GRCh37: 21:44488633-44488633
GRCh38: 21:43068523-43068523
11 CBS NM_000071.3(CBS):c.785C>T (p.Thr262Met) SNV Pathogenic
198988 rs149119723 GRCh37: 21:44484053-44484053
GRCh38: 21:43063943-43063943
12 CBS NM_000071.3(CBS):c.1007G>A (p.Arg336His) SNV Pathogenic
371147 rs760417941 GRCh37: 21:44482453-44482453
GRCh38: 21:43062343-43062343
13 CBS NM_000071.3(CBS):c.374G>A (p.Arg125Gln) SNV Pathogenic
197625 rs781444670 GRCh37: 21:44486430-44486430
GRCh38: 21:43066320-43066320
14 CBS NM_000071.3(CBS):c.346G>A (p.Gly116Arg) SNV Pathogenic
188787 rs760214620 GRCh37: 21:44486458-44486458
GRCh38: 21:43066348-43066348
15 CBS NM_000071.3(CBS):c.1039+1G>T SNV Pathogenic
1339663 GRCh37: 21:44482420-44482420
GRCh38: 21:43062310-43062310
16 CBS NM_000071.3(CBS):c.572C>T (p.Thr191Met) SNV Pathogenic
132 rs121964973 GRCh37: 21:44485591-44485591
GRCh38: 21:43065481-43065481
17 MMACHC NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) SNV Pathogenic
203828 rs140522266 GRCh37: 1:45974478-45974478
GRCh38: 1:45508806-45508806
18 CBS NM_000071.3(CBS):c.1221del (p.Trp408fs) DEL Pathogenic
495530 rs1361324844 GRCh37: 21:44479338-44479338
GRCh38: 21:43059228-43059228
19 CBS NM_000071.3(CBS):c.919G>A (p.Gly307Ser) SNV Pathogenic
117 rs121964962 GRCh37: 21:44483098-44483098
GRCh38: 21:43062988-43062988
20 CBS NM_000071.3(CBS):c.700G>A (p.Asp234Asn) SNV Pathogenic
212852 rs773734233 GRCh37: 21:44485349-44485349
GRCh38: 21:43065239-43065239
21 CBS NM_000071.3(CBS):c.494G>A (p.Cys165Tyr) SNV Pathogenic
495531 rs1347651454 GRCh37: 21:44485763-44485763
GRCh38: 21:43065653-43065653
22 CBS NM_000071.3(CBS):c.1224-2A>C SNV Pathogenic
128 rs375846341 GRCh37: 21:44479080-44479080
GRCh38: 21:43058970-43058970
23 CBS NM_000071.3(CBS):c.341C>T (p.Ala114Val) SNV Pathogenic
119 rs121964964 GRCh37: 21:44486463-44486463
GRCh38: 21:43066353-43066353
24 CBS NM_000071.3(CBS):c.1330G>A (p.Asp444Asn) SNV Pathogenic
126 rs28934891 GRCh37: 21:44478972-44478972
GRCh38: 21:43058862-43058862
25 CBS NM_000071.3(CBS):c.833T>C (p.Ile278Thr) SNV Pathogenic
120 rs5742905 GRCh37: 21:44483184-44483184
GRCh38: 21:43063074-43063074
26 CBS NM_000071.3(CBS):c.362G>A (p.Arg121His) SNV Pathogenic
188948 rs770095972 GRCh37: 21:44486442-44486442
GRCh38: 21:43066332-43066332
27 CBS NM_000071.3(CBS):c.797G>A (p.Arg266Lys) SNV Pathogenic
125 rs121964969 GRCh37: 21:44484041-44484041
GRCh38: 21:43063931-43063931
28 CBS NM_000071.3(CBS):c.442G>A (p.Gly148Arg) SNV Pathogenic
371512 rs755952006 GRCh37: 21:44486362-44486362
GRCh38: 21:43066252-43066252
29 CBS NM_000071.3(CBS):c.430G>A (p.Glu144Lys) SNV Pathogenic
122 rs121964966 GRCh37: 21:44486374-44486374
GRCh38: 21:43066264-43066264
30 CBS NM_000071.3(CBS):c.451G>A (p.Gly151Arg) SNV Pathogenic
863694 rs373782713 GRCh37: 21:44486353-44486353
GRCh38: 21:43066243-43066243
31 CBS NM_000071.3(CBS):c.1006C>T (p.Arg336Cys) SNV Pathogenic
92423 rs398123151 GRCh37: 21:44482454-44482454
GRCh38: 21:43062344-43062344
32 CBS NM_000071.3(CBS):c.992C>A (p.Ala331Glu) SNV Pathogenic
212857 rs777919630 GRCh37: 21:44482468-44482468
GRCh38: 21:43062358-43062358
33 CBS NM_000071.3(CBS):c.1058C>T (p.Thr353Met) SNV Pathogenic
131 rs121964972 GRCh37: 21:44480638-44480638
GRCh38: 21:43060528-43060528
34 CBS NM_000071.3(CBS):c.1039G>A (p.Gly347Ser) SNV Pathogenic
188801 rs771298943 GRCh37: 21:44482421-44482421
GRCh38: 21:43062311-43062311
35 CBS NM_000071.3(CBS):c.959T>C (p.Val320Ala) SNV Pathogenic
371028 rs781567152 GRCh37: 21:44482501-44482501
GRCh38: 21:43062391-43062391
36 CBS NM_000071.3(CBS):c.325T>C (p.Cys109Arg) SNV Pathogenic
212878 rs778220779 GRCh37: 21:44486479-44486479
GRCh38: 21:43066369-43066369
37 CBS NM_000071.3(CBS):c.209+1G>A SNV Pathogenic
632738 rs751464024 GRCh37: 21:44492094-44492094
GRCh38: 21:43071984-43071984
38 CBS NM_000071.3(CBS):c.457G>A (p.Gly153Arg) SNV Likely Pathogenic
212846 rs745704046 GRCh37: 21:44485800-44485800
GRCh38: 21:43065690-43065690
39 CBS NM_000071.3(CBS):c.676G>A (p.Ala226Thr) SNV Likely Pathogenic
370382 rs763835246 GRCh37: 21:44485373-44485373
GRCh38: 21:43065263-43065263
40 MTR NM_000254.3(MTR):c.385G>C (p.Ala129Pro) SNV Likely Pathogenic
812985 rs1190777785 GRCh37: 1:236972049-236972049
GRCh38: 1:236808749-236808749
41 CBS NM_000071.3(CBS):c.904G>A (p.Glu302Lys) SNV Likely Pathogenic
496864 rs779270933 GRCh37: 21:44483113-44483113
GRCh38: 21:43063003-43063003
42 CBS NM_000071.3(CBS):c.502G>A (p.Val168Met) SNV Likely Pathogenic
127 rs121964970 GRCh37: 21:44485755-44485755
GRCh38: 21:43065645-43065645
43 CBS NM_000071.3(CBS):c.361C>T (p.Arg121Cys) SNV Likely Pathogenic
212842 rs775992753 GRCh37: 21:44486443-44486443
GRCh38: 21:43066333-43066333
44 MTR NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu) SNV Likely Pathogenic
14278 rs121913578 GRCh37: 1:237058770-237058770
GRCh38: 1:236895470-236895470
45 CBS NM_000071.3(CBS):c.162G>A (p.Trp54Ter) SNV Likely Pathogenic
212873 rs199948079 GRCh37: 21:44492142-44492142
GRCh38: 21:43072032-43072032
46 CBS NM_000071.3(CBS):c.862G>A (p.Ala288Thr) SNV Likely Pathogenic
555709 rs141502207 GRCh37: 21:44483155-44483155
GRCh38: 21:43063045-43063045
47 CBS NM_000071.3(CBS):c.737-1G>C SNV Likely Pathogenic
471366 rs757428597 GRCh37: 21:44484102-44484102
GRCh38: 21:43063992-43063992
48 CBS NM_000071.3(CBS):c.434C>T (p.Pro145Leu) SNV Likely Pathogenic
118 rs121964963 GRCh37: 21:44486370-44486370
GRCh38: 21:43066260-43066260
49 CBS NM_000071.3(CBS):c.862G>C (p.Ala288Pro) SNV Likely Pathogenic
1192201 GRCh37: 21:44483155-44483155
GRCh38: 21:43063045-43063045
50 CBS NM_000071.3(CBS):c.*55_*57del DEL Uncertain Significance
340079 rs886057097 GRCh37: 21:44473933-44473935
GRCh38: 21:43053823-43053825

Expression for Homocystinuria

Search GEO for disease gene expression data for Homocystinuria.

Pathways for Homocystinuria



Pathways directly related to Homocystinuria:

# Pathway Source
1 Defective ABCD4 causes MAHCJ Reactome 66

Pathways related to Homocystinuria according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.68 TCN2 MTRR MTR MMUT MMADHC MMACHC
2
Show member pathways
13.68 TCN2 SUOX OTC MTRR MTR MTHFR
3
Show member pathways
12.95 BHMT CBS MAT1A MTR MTRR OTC
4
Show member pathways
12.62 ABCD4 BTD LMBRD1 MMACHC MMADHC MMUT
5
Show member pathways
12.5 TCN2 MTRR MTR MMUT MMADHC MMACHC
7
Show member pathways
11.84 OTC MMUT HMGCL CBS BHMT
8
Show member pathways
11.76 BHMT CBS MAT1A MMUT MTR SUOX
9
Show member pathways
11.73 BHMT CBS MAT1A MTR MTRR SUOX
10
Show member pathways
11.38 MTR MAT1A BHMT
11
Show member pathways
11.3 TCN2 MTRR MTR MMUT MMADHC MMACHC
12
Show member pathways
11.27 TCN2 MTRR MTR MTHFR MAT1A CBS
13 11.2 MTR MTHFR MAT1A
14
Show member pathways
11.01 MTR MAT1A CBS
15 10.91 MTHFR BHMT
16
Show member pathways
10.91 MTR MTHFR
17 10.91 MTR MAT1A CBS BHMT
18 10.63 MTR MTHFR CBS
19
Show member pathways
10.35 MTR BHMT
20
Show member pathways
10.16 MTRR MTR

GO Terms for Homocystinuria

Biological processes related to Homocystinuria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to folic acid GO:0051593 9.78 MTHFR CBS
2 cobalamin transport GO:0015889 9.76 TCN2 ABCD4
3 methionine biosynthetic process GO:0009086 9.76 BHMT MTHFR MTR MTRR
4 homocysteine catabolic process GO:0043418 9.67 MTRR CBS
5 S-adenosylmethionine metabolic process GO:0046500 9.61 MTHFR BHMT
6 hemostasis GO:0007599 9.58 THBD SERPINC1 F5
7 amino acid biosynthetic process GO:0008652 9.56 OTC MTRR MTR CBS
8 cobalamin metabolic process GO:0009235 9.56 MTR MMADHC MMACHC ABCD4
9 lysine biosynthetic process via diaminopimelate GO:0009089 9.32 SUOX MTR
10 homocysteine metabolic process GO:0050667 9.23 MTRR MTHFR MMUT CBS

Molecular functions related to Homocystinuria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 FAD binding GO:0071949 9.73 MTRR MTHFR MMACHC
2 modified amino acid binding GO:0072341 9.43 MTHFR MMUT CBS
3 cobalamin binding GO:0031419 9.32 TCN2 MTR MMUT MMACHC LMBRD1
4 S-methyltransferase activity GO:0008172 9.16 MTR BHMT

Sources for Homocystinuria

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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