{"_id":"MONDO:0009058","_version":1,"ctd":{"chemical_related_to_disease":{"chemical_name":"N-acetyl-S-(3-oxo-3-carboxy-n-propyl)cysteine","direct_evidence":"marker/mechanism","mesh_chemical_id":"C110306","pubmed":"8750604","source":"CTD"},"mesh":"C535408","pathway_related_to_disease":[{"inference_gene_symbol":"CTH","kegg_pathway_id":"hsa00260","pathway_name":"Glycine, serine and threonine metabolism","source":"CTD"},{"inference_gene_symbol":"CTH","kegg_pathway_id":"hsa00270","pathway_name":"Cysteine and methionine metabolism","source":"CTD"},{"inference_gene_symbol":"CTH","kegg_pathway_id":"hsa00450","pathway_name":"Selenocompound metabolism","source":"CTD"},{"inference_gene_symbol":"CTH","kegg_pathway_id":"hsa01100","pathway_name":"Metabolic pathways","source":"CTD"},{"inference_gene_symbol":"CTH","kegg_pathway_id":"hsa01230","pathway_name":"Biosynthesis of amino acids","source":"CTD"},{"inference_gene_symbol":"CTH","kegg_pathway_id":"hsa_M00338","pathway_name":"Cysteine biosynthesis, homocysteine + serine => cysteine","source":"CTD"},{"inference_gene_symbol":"CTH","pathway_name":"Metabolism","react_pathway_id":"R-HSA-1430728","source":"CTD"},{"inference_gene_symbol":"CTH","pathway_name":"Degradation of cysteine and homocysteine","react_pathway_id":"R-HSA-1614558","source":"CTD"},{"inference_gene_symbol":"CTH","pathway_name":"Cysteine formation from homocysteine","react_pathway_id":"R-HSA-1614603","source":"CTD"},{"inference_gene_symbol":"CTH","pathway_name":"Sulfur amino acid metabolism","react_pathway_id":"R-HSA-1614635","source":"CTD"},{"inference_gene_symbol":"CTH","pathway_name":"Metabolism of ingested SeMet, Sec, MeSec into H2Se","react_pathway_id":"R-HSA-2408508","source":"CTD"},{"inference_gene_symbol":"CTH","pathway_name":"Selenoamino acid metabolism","react_pathway_id":"R-HSA-2408522","source":"CTD"},{"inference_gene_symbol":"CTH","pathway_name":"Metabolism of amino acids and derivatives","react_pathway_id":"R-HSA-71291","source":"CTD"}]},"disease_ontology":{"_license":"https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt","ancestors":["DOID:0014667","DOID:0050177","DOID:630","DOID:4","DOID:655","DOID:0050737","DOID:9252","DOID:0050739"],"children":[],"def":"\"An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31.\" [url:https\\://www.ncbi.nlm.nih.gov/pubmed/20584029, url:https\\://www.omim.org/entry/219500]","descendants":[],"doid":"DOID:0090142","name":"cystathioninuria","parents":["DOID:0050737","DOID:9252"],"synonyms":{"exact":["cystathionase deficiency","cystathione gamma-lyase deficiency syndrome","gamma-cystathionase deficiency"]},"xrefs":{"gard":"2428","icd10":"E72.19","mesh":"C535408","mim":"219500","ncit":"C129070","ordo":"212","snomedct_us_2025_09_01":["13003007","6885006"],"umls_cui":["C0220993","C0268616"]}},"hpo":[{"disease_name":"CYSTATHIONINURIA","inheritance":{"biocuration":{"date":"2009-02-17","name":"HPO:probinson"},"evidence":"TAS","hpo_id":"HP:0000007","hpo_name":"Autosomal recessive inheritance","omim_refs":"OMIM:219500","original_disease_id":"OMIM:219500"},"omim":"219500","phenotype_related_to_disease":{"biocuration":{"date":"2009-02-17","name":"HPO:probinson"},"evidence":"TAS","hpo_id":"HP:0003153","omim_refs":"OMIM:219500","original_disease_id":"OMIM:219500"}},{"disease_name":"Cystathioninuria","orphanet":"212","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040280","hpo_id":"HP:0003153","orphanet_refs":"orphanet:212"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001249","orphanet_refs":"orphanet:212"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001250","orphanet_refs":"orphanet:212"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0003286","orphanet_refs":"orphanet:212"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000787","orphanet_refs":"orphanet:212"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001337","orphanet_refs":"orphanet:212"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001762","orphanet_refs":"orphanet:212"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000377","orphanet_refs":"orphanet:212"}]}],"mondo":{"ancestors":["MONDO:7770009","MONDO:0000001","MONDO:7770007","MONDO:0019222","MONDO:0019189","MONDO:0056803","MONDO:0019052","MONDO:7770008","MONDO:0005066","MONDO:0000226","MONDO:0700096","MONDO:0037871","MONDO:0003847","MONDO:0004736"],"curated_content_resource":{"https":["https://search.clinicalgenome.org/kb/conditions/MONDO:0009058"]},"definition":"Cystathioninuria is an autosomal recessive disorder caused by cystathionine gamma-lyase deficiency. It is usually pyridoxine-dependent, but in very rare cases it may be non-dependent. It is generally considered to be a benign condition without pathogenic relevance. However, association of cystathioninuria with intellectual impairment has been reported in several cases. [Orphanet:212]","has_material_basis_in_germline_mutation_in":{"http":["http://identifiers.org/hgnc/2501"]},"label":"cystathioninuria","mondo":"MONDO:0009058","parents":["MONDO:0004736","MONDO:0019222"],"synonym":{"exact":["cystathionase deficiency","cystathioninuria","cystathioninuria (disease)","gamma-cystathionase deficiency"]},"xrefs":{"doid":["DOID:0090142"],"gard":["0002428"],"hp":["HP:0003153"],"icd11":["foundation:1415819835"],"medgen":["66353"],"ncit":["C129070"],"omim":["219500"],"orphanet":["212"],"sctid":["13003007"],"umls":["C0220993"]}},"original_id":["MESH:C535408","orphanet:212","UMLS:C0220993","UMLS:C0268616","UMLS:C3495552"],"umls":[{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","icd10cm":{"preferred":"E72.19"},"nci":{"preferred":"C129070"},"snomed":{"non-preferred":"13003007","preferred":"13003007"},"umls":"C0220993"},{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","mesh":{"non-preferred":"C535408","preferred":"C535408"},"snomed":{"non-preferred":["6885006","124632004","367036006","190707005"],"preferred":["6885006","124632004"]},"umls":"C0268616"},{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","mesh":{"preferred":"C562680"},"umls":"C3495552"}]}