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hereditary pyropoikilocytosis

autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency
Class type of: hemolytic anemia, poikilocytosis, genetic disease Q5737872
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Summary

hereditary pyropoikilocytosis is a rare disease[1]. It is a type of hemolytic anemia[2], poikilocytosis[3], and genetic disease[4].

Key Facts

  • Instance of: class of disease[5]
  • ICD-9-CM: 790.09[6]
  • NCI Thesaurus ID: C98943[7]
  • Health specialty: hematology[8]
  • Genetic association: SPTA1[9]
  • P14914: D98867[10]

References

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

Direct Wikidata claims

  1. [5] ↑ . wikidata.org.
  2. [2] ↑ . wikidata.org.
  3. [3] ↑ . wikidata.org.
  4. [4] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [8] ↑ . wikidata.org.
  8. [9] ↑ . A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin.. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  9. [10] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

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BibTeX @misc{4ortxyz_hereditary-pyropoikilocytosis_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{hereditary pyropoikilocytosis}}, year = {2026}, url = {https://4ort.xyz/entity/hereditary-pyropoikilocytosis}, note = {Accessed: 2026-10-28}}
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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. 8d ago · ACorrêa (WMB) · 2026-10-24 view diff on Wikidata ↗
    Uniprot disease id → DI-01737
    Mesh descriptor id → C563004
    Mondo id → MONDO_0009948
    Instance of → rare disease, class of disease
    + 19 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update-languages-and-other-short:0||pt, pt-br */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/61469|batch #61469]]: Raras.org data import"
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