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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:homocystinuria
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Accession:DOID:9263 term browser browse the term
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)
Synonyms:exact_synonym: CBS Deficiencies;   CBS Deficiency;   Cystathionine Beta Synthase Deficiency;   Cystathionine beta Synthase Deficiency Disease;   HOMOCYSTINURIA DUE TO CBS DEFICIENCY;   HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY;   HOMOCYSTINURIA WITH OR WITHOUT RESPONSE TO PYRIDOXINE;   Homocystinuria, Pyridoxine-Nonresponsive;   Hyperhomocysteinemia, Thrombotic, CBS-Related;   cystathionine synthase deficiency
 narrow_synonym: CBS Deficiency Hyperhomocysteinemia, Thrombotic, CBS-Related;   HOMOCYSTINURIA WITHOUT METHYLMALONIC ACIDURIA
 primary_id: MESH:D006712;   RDO:0003188
 alt_id: OMIM:236200
 xref: GARD:10770;   ICD10CM:E72.11;   NCI:C84765;   ORDO:394
For additional species annotation, visit the Alliance of Genome Resources.



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homocystinuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta synthase ISO DNA:point mutation:exon:G307S
ClinVar Annotator: match by term: Homocystinuria
ClinVar Annotator: match by term: CBS deficiency
ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency
ClinVar Annotator: match by term: Homocystinuria, pyridoxine-nonresponsive
ClinVar Annotator: match by term: Homocystinuria due to CBS deficiency
ClinVar Annotator: match by OMIM:236200
ClinVar
OMIM
RGD
PMID:1301198 PMID:2056790 PMID:6711564 PMID:7506602 PMID:7564249 More... RGD:1600622 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Homocystinuria ClinVar PMID:11261516 PMID:16311595 PMID:16714133 PMID:17853453 PMID:18245139 More... NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISS OMIM:236200 | OMIM:236250 MouseDO NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: Homocystinuria ClinVar PMID:8968736 PMID:9235907 PMID:12068375 PMID:25526710 PMID:25558065 More... NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO DNA:polymorphisms,mutations: :
ClinVar Annotator: match by term: Homocystinuria without methylmalonic aciduria
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:10484769 PMID:12555939 PMID:15714522 PMID:24033266 PMID:15714522 RGD:5508189 NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Cystathionine beta-synthase deficiency ClinVar PMID:25741868 NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381
JBrowse link
Homocystinuria, Pyridoxine-Responsive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Homocystinuria, pyridoxine-responsive
ClinVar PMID:1301198 PMID:2056790 PMID:6711564 PMID:7506602 PMID:7611293 More... NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
JBrowse link
homocystinuria-megaloblastic anemia cblE type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by term: Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:236270
OMIM
ClinVar
PMID:1060915 PMID:2860337 PMID:6700644 PMID:9501215 PMID:9536098 More... NCBI chr 1:34,866,991...34,899,425
Ensembl chr 1:34,867,089...34,899,425
JBrowse link
Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102551309 uncharacterized LOC102551309 ISO ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency ClinVar PMID:25741868 NCBI chr 5:158,495,514...158,505,671 JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency
ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
ClinVar Annotator: match by OMIM:236250
ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency
OMIM
ClinVar
PMID:1522835 PMID:3347350 PMID:3580562 PMID:6381059 PMID:7564788 More... NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link
methylmalonic aciduria and homocystinuria type cblC term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc2c doublecortin domain containing 2C ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar PMID:25741868 NCBI chr 6:45,103,838...45,179,040
Ensembl chr 6:45,061,553...45,178,046
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria ClinVar PMID:24011988 PMID:25167861 PMID:25281006 PMID:25741868 PMID:26893841 More... NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638
JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblC type
ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC
ClinVar Annotator: match by term: Methylmalonic acidemia and homocystinuria cblC type
ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive
ClinVar Annotator: match by term: Methylmalonic acidemia with homocystinuria
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
ClinVar Annotator: match by OMIM:277400
OMIM
ClinVar
CTD
PMID:9536098 PMID:11261516 PMID:11320193 PMID:16199547 PMID:16311595 More... NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601
JBrowse link
G Mmadhc metabolism of cobalamin associated D ISO ClinVar Annotator: match by term: methylmalonic aciduria and homocystinuria type cblC ClinVar NCBI chr 3:34,708,649...34,726,554
Ensembl chr 3:34,708,649...34,726,771
JBrowse link
G Prdx1 peroxiredoxin 1 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC
ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria, Vitamin B12-responsive
ClinVar
OMIM
PMID:25741868 PMID:29396438 NCBI chr 5:130,147,276...130,162,850
Ensembl chr 5:130,147,204...130,162,856
JBrowse link
Methylmalonic Aciduria and Homocystinuria, cblJ Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd4 ATP binding cassette subfamily D member 4 ISO ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
ClinVar Annotator: match by OMIM:614857
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22922874 PMID:25741868 More... NCBI chr 6:104,246,459...104,260,965
Ensembl chr 6:104,246,468...104,280,276
JBrowse link
Mthfr Deficiency, Thermolabile Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: MTHFR deficiency, thermolabile type ClinVar PMID:1522835 PMID:7564788 PMID:7647779 PMID:7741859 PMID:8542260 More... NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      Skin and Connective Tissue Diseases 5876
        connective tissue disease 4452
          homocystinuria 12
            Homocystinuria, Pyridoxine-Responsive 1
            Methylenetetrahydrofolate Reductase Deficiency 2
            Methylmalonic Aciduria and Homocystinuria, cblJ Type 1
            Mthfr Deficiency, Thermolabile Type 1
            homocystinuria-megaloblastic anemia cblE type 1
            methylmalonic aciduria and homocystinuria type cblC 5
Path 2
Term Annotations click to browse term
  disease 17445
    Nutritional and Metabolic Diseases 5595
      disease of metabolism 5595
        acquired metabolic disease 2908
          nutrition disease 920
            Malnutrition 225
              nutritional deficiency disease 216
                Avitaminosis 121
                  Vitamin B Deficiency 69
                    hyperhomocysteinemia 48
                      homocystinuria 12
                        Homocystinuria, Pyridoxine-Responsive 1
                        Methylenetetrahydrofolate Reductase Deficiency 2
                        Methylmalonic Aciduria and Homocystinuria, cblJ Type 1
                        Mthfr Deficiency, Thermolabile Type 1
                        homocystinuria-megaloblastic anemia cblE type 1
                        methylmalonic aciduria and homocystinuria type cblC 5
paths to the root