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Details
Link-It Detail - Disease - Homocystinuria
Debug Stats
  • ### Total Build Time: 127 ms 39.639 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 326 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 728 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=11 ms Completed: 11 ms rowSize= 1.418 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=23 ms Completed: 23 ms rowSize= 11.927 KB
  • CONCEPT_RELATIONSHIPS gt=56 ms Completed: 56 ms rowSize= 10.734 KB
  • CONCEPT_GENES gt=21 ms Completed: 21 ms rowSize= 13.163 KB
  • CONCEPT_XREFS gt=6 ms Completed: 6 ms rowSize= 1.148 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Homocystinuria C0019880
Definition (1)
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)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Hyperhomocysteinemia C0598608
img Brain Diseases, Metabolic, Inborn C0752109
img Connective Tissue Diseases C0009782
Ancestral Roots
RootRoot Plus OneDepthParent
img Digestive System Diseases C0012242img Gastrointestinal Diseases C00171786img Hyperhomocysteinemia C0598608
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Hyperhomocysteinemia C0598608
img Nutritional and Metabolic Diseases C0028715img Nutrition Disorders C00287098img Hyperhomocysteinemia C0598608
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Hyperhomocysteinemia C0598608
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Hyperhomocysteinemia C0598608
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Brain Diseases, Metabolic, Inborn C0752109
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Brain Diseases, Metabolic, Inborn C0752109
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Brain Diseases, Metabolic, Inborn C0752109
img Skin and Connective Tissue Diseases C0175166img Connective Tissue Diseases C00097823img Connective Tissue Diseases C0009782
Relationships (24)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 10
diso_​to_​diso : 9
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 14
isa : 3
mapped_​to : 2
may_​treat : 3
use : 1
used_​for : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN52img genetic aspects C0017399
DISO_to_DISO39img Complication Aspects C1171258
DISO_to_PHEN37img genetic aspects C0017399
DISO_to_DISO34img Complication Aspects C1171258
DISO_to_CHEM24img Cystathionine beta-Synthase C0010641
DISO_to_CHEM22img Cystathionine beta-Synthase C0010641
DISO_to_CHEM13img Homocysteine C0019878
DISO_to_CHEM13img Methylmalonic Acid C0025787
DISO_to_ANAT12img In Blood C0005768
DISO_to_CHEM12img Homocysteine C0019878
DISO_to_CHEM11img Methylmalonic Acid C0025787
DISO_to_ANAT10img In Blood C0005768
DISO_to_CHEM10img BETAINE C0005304
DISO_to_PHYS10img Mutation C0026882
DISO_to_CHEMmay_treatimg (Carboxymethyl)trimethylammonium Chloride C0282072
DISO_to_CHEMmay_treatimg BETAINE C0005304
DISO_to_CHEMmay_treatimg Betaine 10 MG/ML Oral Solution C1595294
DISO_to_DISOisaimg Adenosylcobalamin and methylcobalamin synthesis defect C0268591
DISO_to_DISOmapped_toimg Cobalamin-C methylmalonic acidemia and homocystinuria C1848561
DISO_to_DISOuseimg HOMOCYSTEINEMIA C0598608
DISO_to_DISOused_forimg Homocystinuria C0019880
DISO_to_DISOisaimg Homocystinuria vitamin B12-responsive type III C1283269
DISO_to_DISOisaimg Methylene THF reductase deficiency AND homocystinuria C0268610
DISO_to_DISOmapped_toimg Methylenetetrahydrofolate reductase deficiency C1856061
Genes (8)

Species:
human : 8
SpeciesGeneGeneIdGene NameEvidence
HumanMMADHC27249methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
img OMIM, Score=833, UMLKSK CUI: C0019880
img OMIM, Score=1000, UMLKSK CUI: C0019880
HumanMMACHC25974methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
img OMIM, Score=1000, UMLKSK CUI: C0019880
HumanNOS34846nitric oxide synthase 3 (endothelial cell)
img GAD, Score=1000, Pubmed Id: 14999203, UMLKSK CUI: C0019880
HumanMTRR45525-methyltetrahydrofolate-homocysteine methyltransferase reductase
img OMIM, Score=1000, UMLKSK CUI: C0019880
HumanMTHFR4524methylenetetrahydrofolate reductase (NAD(P)H)
img OMIM, Score=1000, UMLKSK CUI: C0019880
HumanFOLR12348folate receptor 1 (adult)
img GAD, Score=1000, Pubmed Id: 14972645, UMLKSK CUI: C0019880
HumanFBN12200fibrillin 1
img GENERIF, Score=1000, Pubmed Id: 15713466, UMLKSK CUI: C0019880
img GENERIF, Score=694, Pubmed Id: 16677079, UMLKSK CUI: C0019880
img GENERIF, Score=1000, Pubmed Id: 16096271, UMLKSK CUI: C0019880
HumanCBS875cystathionine-beta-synthase
img GENERIF, Score=1000, Pubmed Id: 17686644, UMLKSK CUI: C0019880
img GAD, Score=1000, Pubmed Id: 11748855, UMLKSK CUI: C0019880
img GENERIF, Score=1000, Pubmed Id: 18454451, UMLKSK CUI: C0019880
img GAD, Score=833, Pubmed Id: 7611293, UMLKSK CUI: C0019880
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0019880Homocystinuria0self