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pyruvate kinase deficiency

congenital nonspherocytic hemolytic anemia that has material basis in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22
MedicalCondition rare_disease Q3043149
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pyruvate kinase deficiency

Summary

pyruvate kinase deficiency is a rare disease[1]. It draws 25 Wikipedia views per month (rare_disease category, ranking #218 of 627).[2]

Key Facts

  • pyruvate kinase deficiency's instance of is recorded as rare disease[3].
  • pyruvate kinase deficiency's instance of is recorded as class of disease[4].
  • pyruvate kinase deficiency's subclass of is recorded as congenital nonspherocytic hemolytic anemia[5].
  • pyruvate kinase deficiency's subclass of is recorded as hemolytic anemia due to a disorder of glycolytic enzymes[6].
  • pyruvate kinase deficiency's subclass of is recorded as disorder of glycolysis[7].
  • pyruvate kinase deficiency's subclass of is recorded as genetic disease[8].
  • pyruvate kinase deficiency's subclass of is recorded as autosomal recessive disease[9].
  • pyruvate kinase deficiency's MeSH descriptor ID is recorded as C564858[10].
  • pyruvate kinase deficiency's OMIM ID is recorded as 266200[11].
  • pyruvate kinase deficiency's ICD-9 ID is recorded as 282.3[12].
  • pyruvate kinase deficiency's ICD-10 ID is recorded as D55.2[13].
  • pyruvate kinase deficiency's DiseasesDB is recorded as 11090[14].
  • pyruvate kinase deficiency's MedlinePlus ID is recorded as 001197[15].
  • pyruvate kinase deficiency's KEGG ID is recorded as H01096[16].
  • pyruvate kinase deficiency's eMedicine ID is recorded as 125096[17].
  • pyruvate kinase deficiency's Disease Ontology ID is recorded as DOID:0111077[18].
  • pyruvate kinase deficiency's Patientplus ID is recorded as Pyruvate-Kinase-Deficiency[19].
  • pyruvate kinase deficiency's Orphanet ID is recorded as 766[20].
  • pyruvate kinase deficiency's NCI Thesaurus ID is recorded as C99037[21].
  • pyruvate kinase deficiency's health specialty is recorded as hematology[22].
  • pyruvate kinase deficiency's genetic association is recorded as PKLR[23].
  • pyruvate kinase deficiency's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111077[24].
  • pyruvate kinase deficiency's exact match is recorded as http://identifiers.org/doid/DOID:0111077[25].
  • pyruvate kinase deficiency's UMLS CUI is recorded as C1849472[26].
  • pyruvate kinase deficiency's UMLS CUI is recorded as C0340968[27].

Why It Matters

pyruvate kinase deficiency draws 25 Wikipedia views per month (rare_disease category, ranking #218 of 627).[2] It has Wikipedia articles in 6 language editions, a strong signal of global cultural recognition.[28] It is known by 6 alternative names across languages and contexts.[29]

References

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

Direct Wikidata claims

  1. [3] ↑ . wikidata.org.
  2. [4] ↑ . wikidata.org.
  3. [5] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [6] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [7] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [8] ↑ . Disease Ontology. Retrieved . wikidata.org.
  7. [9] ↑ . Disease Ontology. Retrieved . wikidata.org.
  8. [10] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [11] ↑ . Disease Ontology. Retrieved . wikidata.org.
  10. [12] ↑ . wikidata.org.
  11. [13] ↑ . wikidata.org.
  12. [14] ↑ . wikidata.org.
  13. [15] ↑ . wikidata.org.
  14. [16] ↑ . wikidata.org.
  15. [17] ↑ . wikidata.org.
  16. [18] ↑ . Disease Ontology. Retrieved . wikidata.org.
  17. [19] ↑ . patient.co.uk. patient.co.uk. Provenance: wikidata.org.
  18. [20] ↑ . Disease Ontology. Retrieved . wikidata.org.
  19. [21] ↑ . wikidata.org.
  20. [22] ↑ . wikidata.org.
  21. [23] ↑ . Q905695. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  22. [24] ↑ . Disease Ontology. Retrieved . wikidata.org.
  23. [25] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  24. [26] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  25. [27] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] ↑ . Wikimedia Foundation. dumps.wikimedia.org.
  2. [28] ↑ . Wikidata sitelinks. wikidata.org.
  3. [29] ↑ . Wikidata aliases. 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). pyruvate kinase deficiency. Retrieved May 3, 2026, from https://4ort.xyz/entity/pyruvate-kinase-deficiency
MLA “pyruvate kinase deficiency.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/pyruvate-kinase-deficiency.
BibTeX @misc{4ortxyz_pyruvate-kinase-deficiency_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{pyruvate kinase deficiency}}, year = {2026}, url = {https://4ort.xyz/entity/pyruvate-kinase-deficiency}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): pyruvate kinase deficiency — https://4ort.xyz/entity/pyruvate-kinase-deficiency (retrieved 2026-05-03)

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