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cystathioninuria

amino acid metabolic disorder characterized by elevated plasma and urinary cystathionine levels that has material basis in homozygous or compound heterozygous mutation in the CTH gene on chromosome 1p31
Class type of: sulfuraminoacidemia, amino acid metabolic disorder, genetic disease Q5201186

Facts

9 properties
Instance of
class of disease
Subclass of
sulfuraminoacidemia, amino acid metabolic disorder, genetic disease
Age of onset
any age[9]
Genetic association
CTH[8]
Has phenotype
cystathioninuria, disability affecting intellectual abilities, seizure, nephrolithiasis, tremor, clubfoot[11][12][13][14][15][16]
Health specialty
medical genetics[7]
NCI Thesaurus ID
C129070[6]
On focus list of Wikimedia project
WikiProject Medicine[10]
Prevalence
+0.00005[5]
🏷️ Also known as
en cystathionase deficiency en cystathione gamma-lyase deficiency syndrome en cystathioninuria en gamma-cystathionase deficiency de Cystathioninurie ja シスタチオニン尿症
🔖 Identifiers · 17
Disease Ontology ID
DOID:0090142
DiseasesDB
29671
Encyclopædia Britannica Online ID
science/cystathioninuria
Exact match
purl.obolibrary.org, identifiers.org, purl.obolibrary.org, www.orpha.net
GARD rare disease ID
2428
Human Phenotype Ontology ID
HP:0003153
ICD-10-CM
E72.19, E72.1
ICD-9 ID
270.4
KEGG ID
H00182
MeSH descriptor ID
C535408
Microsoft Academic ID (discontinued)
2776972205
Mondo ID
MONDO_0009058
Show all 17 identifiers +5
OMIM ID
219500
Orphanet ID
212
Raras disease ID
D00212
UMLS CUI
C3495552, C0268616, C0220993
UniProt disease ID
DI-01465

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Summary

cystathioninuria is a class of disease[1]. cystathioninuria is a type of sulfuraminoacidemia[2], amino acid metabolic disorder[3], and genetic disease[4].

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [2] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  2. [3] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [4] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [5] ↑ . Retrieved . wikidata.org.
  5. [6] ↑ . Disease Ontology. Retrieved . wikidata.org.
  6. [7] ↑ . wikidata.org.
  7. [8] ↑ . UniProt. Retrieved . search.clinicalgenome.org. Provenance: wikidata.org.
  8. [9] ↑ . Retrieved . wikidata.org.
  9. [10] ↑ . wikidata.org.
  10. [11] ↑ . Retrieved . wikidata.org.
  11. [12] ↑ . Retrieved . wikidata.org.
  12. [13] ↑ . Retrieved . wikidata.org.
  13. [14] ↑ . Retrieved . wikidata.org.
  14. [15] ↑ . Retrieved . wikidata.org.
  15. [16] ↑ . Retrieved . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

📑 Cite this page

Use these citations when quoting this entity in research, articles, AI prompts, or wherever provenance matters. We aggregate Wikidata + Wikipedia + authoritative open-data sources; the stitched, scored, cross-referenced view is what 4ort.xyz contributes.

APA 4ort.xyz Knowledge Graph. (2026). cystathioninuria. Retrieved November 7, 2026, from https://4ort.xyz/entity/cystathioninuria
MLA “cystathioninuria.” 4ort.xyz Knowledge Graph, 4ort.xyz, 7 Nov. 2026, https://4ort.xyz/entity/cystathioninuria.
BibTeX @misc{4ortxyz_cystathioninuria_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{cystathioninuria}}, year = {2026}, url = {https://4ort.xyz/entity/cystathioninuria}, note = {Accessed: 2026-11-07}}
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Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

  1. 17d ago · ACorrêa (WMB) · 2026-10-23 view diff on Wikidata ↗
    Prevalence → 0.00005
    Age of onset → any age
    Has phenotype → cystathioninuria, disability affecting intellectual abilities, seizure +1
    Raras disease ID → D00212
    "Changed labels, descriptions, aliases and claims: QuickStatements 3.0 batch #61469: Raras.org data import"
  2. 18w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    NCI Thesaurus ID → C129070
    On focus list of Wikimedia project → WikiProject Medicine
    GARD rare disease ID → 2428
    Health specialty → medical genetics
    + 19 other properties edited (see Wikidata diff for full list)
    "Changed the item: QuickStatements 3.0 batch #39943: deprecate redundant disease superclasses"
Live feed via Wikidata EventStreams. New edits appear within minutes of being made on Wikidata.