FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term cystathioninuria ID (Ontology) DOID:0090142 (Human Disease)
Definition 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.
Also Known As "cystathionase deficiency" ; "cystathione gamma-lyase deficiency syndrome" ; "gamma-cystathionase deficiency"
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 Genes
 cystathioninuria       1
 for disease ribbon | cystathioninuria       1
 model of | cystathioninuria       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease____
inherited metabolic disorder       |
 |__amino acid metabolic disorder__|
                                   cystathioninuria  1 rec.
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Is a autosomal recessive disease
amino acid metabolic disorder
Part of
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Synonyms
  • "cystathionase deficiency" EXACT
    "cystathione gamma-lyase deficiency syndrome" EXACT
    "gamma-cystathionase deficiency" EXACT
Secondary IDs
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GARD:2428
ICD10CM:E72.19
MESH:C535408
MIM:219500
NCI:C129070
ORDO:212
SNOMEDCT_US_2023_03_01:13003007
SNOMEDCT_US_2023_03_01:6885006
UMLS_CUI:C0220993
UMLS_CUI:C0268616