MCID: HMC002
MIFTS: 51

Homocystinuria

Categories: Blood diseases, Bone diseases, Metabolic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Homocystinuria

MalaCards integrated aliases for Homocystinuria:

Name: Homocystinuria 12 77 54 26 38 30 56 6 45 15 74
Cystathionine Beta Synthase Deficiency 12 26
Homocysteinemia 26 74
Cystathionine Beta-Synthase Deficiency Disease 74
Cystathionine Synthase Deficiency 12
Cystathionine Beta-Synthase 13
Cbs Deficiency 12

Classifications:



External Ids:

Disease Ontology 12 DOID:9263
KEGG 38 H00183
MeSH 45 D006712
NCIt 51 C84765
SNOMED-CT 69 11282001
ICD10 34 E72.11

Summaries for Homocystinuria

NIH Rare Diseases : 54 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. Mutations in the MTHFR, MTR, MTRR and MMADHC genes can cause homocystinuria. All these forms of homocystinuria are inherited in an autosomal recessive manner. Treatment and long-term outlook varies depending upon the cause of the disorder.

MalaCards based summary : Homocystinuria, also known as cystathionine beta synthase deficiency, is related to methylmalonic acidemia with homocystinuria and methylmalonic aciduria and homocystinuria, cblc type, and has symptoms including seizures An important gene associated with Homocystinuria is CBS (Cystathionine-Beta-Synthase), and among its related pathways/superpathways are Glycine, serine and threonine metabolism and Cysteine and methionine metabolism. The drugs Betaine and Antimetabolites have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and testes.

Disease Ontology : 12 An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.

Genetics Home Reference : 26 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.

Wikipedia : 77 Classical homocystinuria is an inherited disorder of the metabolism of the amino acid methionine due to... more...

Related Diseases for Homocystinuria

Diseases in the Homocystinuria family:

Homocystinuria Due to Defect in Methylation Cbl E Homocystinuria Due to Defect in Methylation Cbl G

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

(show top 50) (show all 248)
# Related Disease Score Top Affiliating Genes
1 methylmalonic acidemia with homocystinuria 34.5 MMACHC MMADHC
2 methylmalonic aciduria and homocystinuria, cblc type 34.3 CBS MMACHC MTR
3 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 34.3 MTHFR MTR
4 methylmalonic aciduria and homocystinuria type cble 33.6 MTR MTRR
5 methylmalonic aciduria and homocystinuria type cblg 33.6 MTR MTRR
6 glycine n-methyltransferase deficiency 32.3 CBS MTHFR
7 homocysteinemia 31.0 CBS F5 MMACHC MTHFR MTR MTRR
8 isolated ectopia lentis 30.7 CBS FBN1
9 thrombosis 30.4 F5 MTHFR SERPINC1
10 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 30.4 LMBRD1 MMACHC MMADHC MTHFR MTR TCN2
11 myelomeningocele 30.2 CBS MTHFR
12 sagittal sinus thrombosis 30.2 F5 SERPINC1
13 cystathioninuria 30.2 CBS MTHFR
14 neural tube defects, folate-sensitive 30.0 MTHFR MTR MTRR
15 lens subluxation 30.0 CBS FBN1 MTHFR
16 branch retinal artery occlusion 29.9 MTHFR SERPINC1
17 livedoid vasculitis 29.9 MTHFR SERPINC1
18 vitamin b12 deficiency 29.8 MTHFR MTR TCN2
19 down syndrome 29.8 CBS MTHFR MTRR
20 cerebrovascular disease 29.8 CBS F5 MTHFR MTR
21 thrombophilia 29.6 F5 MTHFR SERPINC1
22 thrombophilia due to thrombin defect 29.6 CBS F5 MTHFR SERPINC1
23 retinal artery occlusion 29.6 F5 MTHFR SERPINC1
24 thrombophilia due to activated protein c resistance 29.5 F5 MTHFR SERPINC1
25 heart disease 29.5 CBS MTHFR MTR SERPINC1
26 thrombophlebitis 29.4 F5 MTHFR SERPINC1
27 intracranial thrombosis 29.4 F5 MTHFR SERPINC1
28 portal vein thrombosis 29.4 F5 MTHFR SERPINC1
29 myocardial infarction 29.4 CBS F5 MTHFR SERPINC1
30 megaloblastic anemia 29.3 LMBRD1 MMADHC MTHFR MTR MTRR TCN2
31 stroke, ischemic 29.2 F5 FBN1 MTHFR SERPINC1
32 vascular disease 29.1 CBS F5 MTHFR MTR MTRR SERPINC1
33 neural tube defects 28.9 CBS MTHFR MTR MTRR TCN2
34 transcobalamin ii deficiency 28.5 LMBRD1 MMADHC MTHFR MTR MTRR TCN2
35 methylmalonic aciduria and homocystinuria, cbld type 12.7
36 homocystinuria due to cystathionine beta-synthase deficiency 12.6
37 homocystinuria-megaloblastic anemia, cble complementation type 12.6
38 homocystinuria due to cbs deficiency 12.5
39 homocystinuria-megaloblastic anemia, cblg complementation type 12.5
40 methylmalonic aciduria and homocystinuria, cblf type 12.5
41 methylmalonic aciduria and homocystinuria, cblj type 12.4
42 homocystinuria caused by cystathionine beta-synthase deficiency 12.2
43 methylmalonic acidemia with homocystinuria type cblj 12.1
44 homocystinuria without methylmalonic aciduria 12.1
45 homocystinuria due to defect in methylation cbl e 12.0
46 homocystinuria due to defect in methylation cbl g 12.0
47 methylmalonic acidemia and homocysteinemia, cblx type 11.8
48 methylmalonic aciduria, cblb type 11.3
49 vitamin b12-responsive methylmalonic acidemia 11.2
50 pneumothorax, primary spontaneous 11.0

Graphical network of the top 20 diseases related to Homocystinuria:



Diseases related to Homocystinuria

Symptoms & Phenotypes for Homocystinuria

UMLS symptoms related to Homocystinuria:


seizures

Drugs & Therapeutics for Homocystinuria

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

(show all 33)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Betaine Approved, Nutraceutical Phase 3,Phase 2 107-43-7 247
2 Antimetabolites Phase 3,Phase 2
3 Hypolipidemic Agents Phase 3,Phase 2
4 Lipid Regulating Agents Phase 3,Phase 2
5 Gastrointestinal Agents Phase 3,Phase 2
6
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
7
Methylcobalamin Approved, Experimental, Investigational Phase 2 13422-55-4
8
Hydroxocobalamin Approved Phase 2 13422-51-0 15589840 11953898
9
Taurine Approved, Nutraceutical Phase 1, Phase 2 107-35-7 1123
10
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
11
Cyanocobalamin Approved, Nutraceutical Phase 2 68-19-9 44176380
12
Cobalamin Experimental Phase 2 13408-78-1 6857388
13 Free Radical Scavengers Phase 2
14 Anti-Infective Agents Phase 2
15 Antioxidants Phase 2
16 Expectorants Phase 2
17 N-monoacetylcystine Phase 2
18 Antidotes Phase 2
19 Antiviral Agents Phase 2
20 Respiratory System Agents Phase 2
21 Protective Agents Phase 2
22 Vitamin B12 Phase 2
23 Micronutrients Phase 2
24 Folate Phase 2
25 Vitamin B9 Phase 2
26 Hematinics Phase 2
27 Ubiquinone Phase 2
28 Vitamin B 12 Phase 2
29 Nutrients Phase 2
30 Vitamin B Complex Phase 2
31 Trace Elements Phase 2
32 Vitamins Phase 2
33 Pharmaceutical Solutions Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Betaine and Peroxisome Biogenesis Disorders Completed NCT01838941 Phase 3 Betaine
2 Betaine METABOLISM OF PATIENTS With Homocystinuria Completed NCT02404337 Phase 2 Betaine
3 Homocystinuria: Treatment With N-Acetylcysteine Completed NCT00483314 Phase 2 N-acetylcysteine
4 Oxidative Stress Markers In Inherited Homocystinuria And The Impact Of Taurine Completed NCT01192828 Phase 1, Phase 2 taurine
5 EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment Completed NCT01793090 Phase 2 Epi-743
6 OT-58 as an Enzyme Replacement Therapy for Patients With Cystathionine Beta-Synthase Deficient Homocystinuria (CBSDH) Recruiting NCT03406611 Phase 1, Phase 2 OT-58;Placebo
7 Study of Homocysteine Metabolism in Homocystinuria Completed NCT00004356
8 Normal Values of Oxidative Stress, Taurine, and Related Markers Completed NCT02649777
9 Natural History Study of Cystathionine Beta-synthase Deficiency Homocystinuria (CBSDH) Recruiting NCT02998710
10 Retrospective Study of Adult Patients With Inborn Errors of Metabolism in Switzerland Recruiting NCT03534752

Search NIH Clinical Center for Homocystinuria

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: homocystinuria

Genetic Tests for Homocystinuria

Genetic tests related to Homocystinuria:

# Genetic test Affiliating Genes
1 Homocystinuria 30

Anatomical Context for Homocystinuria

MalaCards organs/tissues related to Homocystinuria:

42
Bone, Eye, Testes, Liver, Heart, Lung, Brain

Publications for Homocystinuria

Articles related to Homocystinuria:

(show top 50) (show all 810)
# Title Authors Year
1
Reversible Cerebral White Matter Abnormalities in Homocystinuria. ( 30187370 )
2019
2
In silico and in vivo models for Qatari-specific classical homocystinuria as basis for development of novel therapies. ( 30408270 )
2019
3
First report of homocystinuria-megaloblastic anaemia, cobalamin E complementation type, in an Indian child. ( 30466947 )
2019
4
Ectopia lentis in homocystinuria. ( 30580878 )
2019
5
Revising the Psychiatric Phenotype of Homocystinuria. ( 30643218 )
2019
6
Taurine alleviates repression of betaine-homocysteine S-methyltransferase and significantly improves the efficacy of long-term betaine treatment in a mouse model of cystathionine β-synthase-deficient homocystinuria. ( 30768359 )
2019
7
The Value of 1H-MRS and MRI in Combined Methylmalonic Aciduria and Homocystinuria. ( 30839328 )
2019
8
Betaine anhydrous in homocystinuria: results from the RoCH registry. ( 30871635 )
2019
9
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. ( 30873612 )
2019
10
Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population. ( 30968424 )
2019
11
Severe Crohn's Disease Manifestations in a Child with Cystathionine β-Synthase Deficiency. ( 30775396 )
2018
12
Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome. ( 29294253 )
2018
13
Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management. ( 28779878 )
2018
14
Isolated aortic root dilation in homocystinuria. ( 28980096 )
2018
15
Enzyme replacement therapy prevents loss of bone and fat mass in murine homocystinuria. ( 29044829 )
2018
16
Taurine treatment prevents derangement of the hepatic γ-glutamyl cycle and methylglyoxal metabolism in a mouse model of classical homocystinuria: regulatory crosstalk between thiol and sulfinic acid metabolism. ( 29101223 )
2018
17
Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria. ( 29119254 )
2018
18
Late diagnosis of homocystinuria in an adult after extensive cerebral venous thrombosis. ( 29175875 )
2018
19
Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization. ( 29326875 )
2018
20
CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients. ( 29352562 )
2018
21
Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria. ( 29398487 )
2018
22
Is homocystinuria a real challenge for anesthetist? Are we making a difference? ( 29416496 )
2018
23
Poorly Controlled Homocystinuria: A Rare Cause of Ischemic Priapism? ( 29463473 )
2018
24
Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria. ( 29508359 )
2018
25
Pharmacokinetics and pharmacodynamics of PEGylated truncated human cystathionine beta-synthase for treatment of homocystinuria. ( 29526799 )
2018
26
Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria. ( 29743968 )
2018
27
Classical Homocystinuria in a Juvenile Patient. ( 29848432 )
2018
28
Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria. ( 29875981 )
2018
29
Homocystinuria presenting as a calcified right atrial mass. ( 29922024 )
2018
30
Regressive pyridoxine-induced sensory neuronopathy in a patient with homocystinuria. ( 29954767 )
2018
31
Classic homocystinuria and keratoconus: a case report. ( 29995127 )
2018
32
Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report. ( 30103768 )
2018
33
Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria. ( 30157807 )
2018
34
CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients. ( 30264510 )
2018
35
Cytokines levels in late-diagnosed Classical Homocystinuria patients. ( 30294544 )
2018
36
Oxidative Stress in Homocystinuria Due to Cystathionine ß-Synthase Deficiency: Findings in Patients and in Animal Models. ( 28258516 )
2017
37
Cystathionine beta-synthase deficiency alters hepatic phospholipid and choline metabolism: Post-translational repression of phosphatidylethanolamine N-methyltransferase is a consequence rather than a cause of liver injury in homocystinuria. ( 28291718 )
2017
38
Engineering and Characterization of an Enzyme Replacement Therapy for Classical Homocystinuria. ( 28431470 )
2017
39
Malar rash in classical homocystinuria. ( 28473367 )
2017
40
The c.797 G>A (p.R266K) cystathionine β-synthase mutation causes homocystinuria by affecting protein stability. ( 28488385 )
2017
41
Spinal cord injury following a mild trauma in homocystinuria-related bone frailty: neurorehabilitation and education on bone health management. ( 28777128 )
2017
42
Leptin concentrations and SCD-1 indices in classical homocystinuria: Evidence for the role of sulfur amino acids in the regulation of lipid metabolism. ( 28801090 )
2017
43
Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria. ( 28821635 )
2017
44
Cerebral venous sinus thrombosis in homocystinuria: Dietary intervention in conjunction with anticoagulation. ( 28835823 )
2017
45
Homocystinuria with Cerebral Venous Sinus Thrombosis: Excellent Recovery with Intravenous Recombinant Tissue Plasminogen Activator. ( 28883877 )
2017
46
Arterial Stroke as an Isolated Manifestation of Homocystinuria in an Infant. ( 28904589 )
2017
47
Growth Patterns in the Irish Pyridoxine Nonresponsive Homocystinuria Population and the Influence of Metabolic Control and Protein Intake. ( 29270317 )
2017
48
Homocystinuria with Stroke and Positive Familial History. ( 29279830 )
2017
49
Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy. ( 27325427 )
2017
50
Cerebral venous thrombosis as the first presentation of classical homocystinuria in an adult patient. ( 28137899 )
2017

Variations for Homocystinuria

ClinVar genetic disease variations for Homocystinuria:

6 (show top 50) (show all 104)
# 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.919G> A (p.Gly307Ser) single nucleotide variant Pathogenic rs121964962 GRCh38 Chromosome 21, 43062988: 43062988
3 CBS NM_000071.2(CBS): c.341C> T (p.Ala114Val) single nucleotide variant Pathogenic/Likely pathogenic rs121964964 GRCh37 Chromosome 21, 44486463: 44486463
4 CBS NM_000071.2(CBS): c.341C> T (p.Ala114Val) single nucleotide variant Pathogenic/Likely pathogenic rs121964964 GRCh38 Chromosome 21, 43066353: 43066353
5 CBS NM_000071.2(CBS): c.833T> C (p.Ile278Thr) single nucleotide variant Pathogenic rs5742905 GRCh37 Chromosome 21, 44483184: 44483184
6 CBS NM_000071.2(CBS): c.833T> C (p.Ile278Thr) single nucleotide variant Pathogenic rs5742905 GRCh38 Chromosome 21, 43063074: 43063074
7 CBS NM_000071.2(CBS): c.1224-2A> C single nucleotide variant Pathogenic rs375846341 GRCh37 Chromosome 21, 44479080: 44479080
8 CBS NM_000071.2(CBS): c.1224-2A> C single nucleotide variant Pathogenic rs375846341 GRCh38 Chromosome 21, 43058970: 43058970
9 CBS NM_000071.2(CBS): c.572C> T (p.Thr191Met) single nucleotide variant Pathogenic rs121964973 GRCh37 Chromosome 21, 44485591: 44485591
10 CBS NM_000071.2(CBS): c.572C> T (p.Thr191Met) single nucleotide variant Pathogenic rs121964973 GRCh38 Chromosome 21, 43065481: 43065481
11 CBS NM_000071.2(CBS): c.1080C> T (p.Ala360=) single nucleotide variant Benign rs1801181 GRCh37 Chromosome 21, 44480616: 44480616
12 CBS NM_000071.2(CBS): c.1080C> T (p.Ala360=) single nucleotide variant Benign rs1801181 GRCh38 Chromosome 21, 43060506: 43060506
13 CBS NM_000071.2(CBS): c.699C> T (p.Tyr233=) single nucleotide variant Benign rs234706 GRCh37 Chromosome 21, 44485350: 44485350
14 CBS NM_000071.2(CBS): c.699C> T (p.Tyr233=) single nucleotide variant Benign rs234706 GRCh38 Chromosome 21, 43065240: 43065240
15 CBS NM_000071.2(CBS): c.531+11G> A single nucleotide variant Conflicting interpretations of pathogenicity rs186114513 GRCh37 Chromosome 21, 44485715: 44485715
16 CBS NM_000071.2(CBS): c.531+11G> A single nucleotide variant Conflicting interpretations of pathogenicity rs186114513 GRCh38 Chromosome 21, 43065605: 43065605
17 CBS NM_000071.2(CBS): c.636C> T (p.Asn212=) single nucleotide variant Conflicting interpretations of pathogenicity rs2298758 GRCh37 Chromosome 21, 44485527: 44485527
18 CBS NM_000071.2(CBS): c.636C> T (p.Asn212=) single nucleotide variant Conflicting interpretations of pathogenicity rs2298758 GRCh38 Chromosome 21, 43065417: 43065417
19 CBS NM_000071.2(CBS): c.829-13G> A single nucleotide variant Conflicting interpretations of pathogenicity rs201106576 GRCh37 Chromosome 21, 44483201: 44483201
20 CBS NM_000071.2(CBS): c.829-13G> A single nucleotide variant Conflicting interpretations of pathogenicity rs201106576 GRCh38 Chromosome 21, 43063091: 43063091
21 CBS NM_000071.2(CBS): c.829-12C> T single nucleotide variant Conflicting interpretations of pathogenicity rs75616587 GRCh37 Chromosome 21, 44483200: 44483200
22 CBS NM_000071.2(CBS): c.829-12C> T single nucleotide variant Conflicting interpretations of pathogenicity rs75616587 GRCh38 Chromosome 21, 43063090: 43063090
23 CBS NM_000071.2(CBS): c.954+8G> A single nucleotide variant Conflicting interpretations of pathogenicity rs76292057 GRCh37 Chromosome 21, 44483055: 44483055
24 CBS NM_000071.2(CBS): c.954+8G> A single nucleotide variant Conflicting interpretations of pathogenicity rs76292057 GRCh38 Chromosome 21, 43062945: 43062945
25 CBS NM_000071.2(CBS): c.1145+7C> T single nucleotide variant Benign/Likely benign rs201158177 GRCh37 Chromosome 21, 44480544: 44480544
26 CBS NM_000071.2(CBS): c.1145+7C> T single nucleotide variant Benign/Likely benign rs201158177 GRCh38 Chromosome 21, 43060434: 43060434
27 CBS NM_000071.2(CBS): c.304A> C (p.Lys102Gln) single nucleotide variant Benign/Likely benign rs34040148 GRCh37 Chromosome 21, 44488631: 44488631
28 CBS NM_000071.2(CBS): c.304A> C (p.Lys102Gln) single nucleotide variant Benign/Likely benign rs34040148 GRCh38 Chromosome 21, 43068521: 43068521
29 CBS NM_000071.2(CBS): c.*10C> A single nucleotide variant Benign rs9978104 GRCh37 Chromosome 21, 44473980: 44473980
30 CBS NM_000071.2(CBS): c.*10C> A single nucleotide variant Benign rs9978104 GRCh38 Chromosome 21, 43053870: 43053870
31 CBS NM_000071.2(CBS): c.*123C> G single nucleotide variant Benign rs1051319 GRCh37 Chromosome 21, 44473867: 44473867
32 CBS NM_000071.2(CBS): c.*123C> G single nucleotide variant Benign rs1051319 GRCh38 Chromosome 21, 43053757: 43053757
33 CBS NM_000071.2(CBS): c.1359-14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs115185587 GRCh37 Chromosome 21, 44478377: 44478377
34 CBS NM_000071.2(CBS): c.1359-14C> T single nucleotide variant Conflicting interpretations of pathogenicity rs115185587 GRCh38 Chromosome 21, 43058267: 43058267
35 CBS NM_000071.2(CBS): c.700G> A (p.Asp234Asn) single nucleotide variant Pathogenic rs773734233 GRCh38 Chromosome 21, 43065239: 43065239
36 CBS NM_000071.2(CBS): c.700G> A (p.Asp234Asn) single nucleotide variant Pathogenic rs773734233 GRCh37 Chromosome 21, 44485349: 44485349
37 CBS NM_000071.2(CBS): c.361C> T (p.Arg121Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs775992753 GRCh37 Chromosome 21, 44486443: 44486443
38 CBS NM_000071.2(CBS): c.361C> T (p.Arg121Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs775992753 GRCh38 Chromosome 21, 43066333: 43066333
39 CBS NM_000071.2(CBS): c.325T> C (p.Cys109Arg) single nucleotide variant Pathogenic/Likely pathogenic rs778220779 GRCh38 Chromosome 21, 43066369: 43066369
40 CBS NM_000071.2(CBS): c.325T> C (p.Cys109Arg) single nucleotide variant Pathogenic/Likely pathogenic rs778220779 GRCh37 Chromosome 21, 44486479: 44486479
41 CBS NM_000071.2(CBS): c.*540G> A single nucleotide variant Conflicting interpretations of pathogenicity rs111386779 GRCh37 Chromosome 21, 44473450: 44473450
42 CBS NM_000071.2(CBS): c.*540G> A single nucleotide variant Conflicting interpretations of pathogenicity rs111386779 GRCh38 Chromosome 21, 43053340: 43053340
43 CBS NM_000071.2(CBS): c.894G> A (p.Gln298=) single nucleotide variant Conflicting interpretations of pathogenicity rs370514077 GRCh37 Chromosome 21, 44483123: 44483123
44 CBS NM_000071.2(CBS): c.894G> A (p.Gln298=) single nucleotide variant Conflicting interpretations of pathogenicity rs370514077 GRCh38 Chromosome 21, 43063013: 43063013
45 CBS NM_000071.2(CBS): c.1161C> T (p.Ser387=) single nucleotide variant Conflicting interpretations of pathogenicity rs149280976 GRCh38 Chromosome 21, 43059288: 43059288
46 CBS NM_000071.2(CBS): c.1161C> T (p.Ser387=) single nucleotide variant Conflicting interpretations of pathogenicity rs149280976 GRCh37 Chromosome 21, 44479398: 44479398
47 CBS NM_000071.2(CBS): c.786G> A (p.Thr262=) single nucleotide variant Conflicting interpretations of pathogenicity rs551782391 GRCh37 Chromosome 21, 44484052: 44484052
48 CBS NM_000071.2(CBS): c.786G> A (p.Thr262=) single nucleotide variant Conflicting interpretations of pathogenicity rs551782391 GRCh38 Chromosome 21, 43063942: 43063942
49 CBS NM_000071.2(CBS): c.1200_1202delGGA (p.Glu400del) deletion Uncertain significance rs745438246 GRCh37 Chromosome 21, 44479357: 44479359
50 CBS NM_000071.2(CBS): c.1200_1202delGGA (p.Glu400del) deletion Uncertain significance rs745438246 GRCh38 Chromosome 21, 43059247: 43059249

Expression for Homocystinuria

Search GEO for disease gene expression data for Homocystinuria.

Pathways for Homocystinuria

Pathways related to Homocystinuria according to KEGG:

38
# Name Kegg Source Accession
1 Glycine, serine and threonine metabolism hsa00260
2 Cysteine and methionine metabolism hsa00270
3 Selenocompound metabolism hsa00450
4 One carbon pool by folate hsa00670

Pathways related to Homocystinuria according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.73 ABCD4 CBS LMBRD1 MMACHC MMADHC MTHFR
2
Show member pathways
12.16 ABCD4 LMBRD1 MMACHC MMADHC MTHFR MTR
3
Show member pathways
12.05 CBS MTHFR MTR MTRR TCN2
4
Show member pathways
11.98 CBS MTHFR MTR
5
Show member pathways
11.8 CBS MTHFR MTR MTRR TCN2
6
Show member pathways
11.73 CBS MTR MTRR
7
Show member pathways
11.52 MMACHC MMADHC MTR MTRR TCN2
8 10.92 LMBRD1 MMACHC TCN2
9 10.49 ABCD4 LMBRD1 MMACHC MMADHC MTR MTRR
10 10.31 CBS MTHFR

GO Terms for Homocystinuria

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

# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.63 F5 FBN1 SERPINC1
2 cellular amino acid biosynthetic process GO:0008652 9.5 CBS MTR MTRR
3 blood circulation GO:0008015 9.48 F5 MTHFR
4 folic acid metabolic process GO:0046655 9.43 MTHFR MTRR
5 cobalamin transport GO:0015889 9.4 LMBRD1 TCN2
6 methionine metabolic process GO:0006555 9.37 MTHFR MTRR
7 methionine biosynthetic process GO:0009086 9.33 MTHFR MTR MTRR
8 homocysteine catabolic process GO:0043418 9.26 CBS MTRR
9 cobalamin metabolic process GO:0009235 9.17 ABCD4 LMBRD1 MMACHC MMADHC MTR MTRR
10 homocysteine metabolic process GO:0050667 9.13 CBS MTHFR MTRR

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

# Name GO ID Score Top Affiliating Genes
1 NADP binding GO:0050661 9.26 MTHFR MTRR
2 modified amino acid binding GO:0072341 9.16 CBS MTHFR
3 FAD binding GO:0071949 9.13 MMACHC MTHFR MTRR
4 cobalamin binding GO:0031419 8.92 LMBRD1 MMACHC MTR TCN2

Sources for Homocystinuria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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