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PSAT deficiency

serine deficiency that has material basis in deficiency of phosphoserine aminotransferase and is characterized by low concentrations of serine and flycine in plasma and cerebrospinal fluid
Class type of: serine deficiency, genetic syndromic intellectual disability Q18553427

Facts

7 properties
Instance of
rare disease, class of disease[4]
Subclass of
serine deficiency, genetic syndromic intellectual disability
Age of onset
infantile onset, neonatal onset[7][8]
Genetic association
PSAT1[6]
Has phenotype
Cerebellar vermis hypoplasia, Neonatal onset, Feeding difficulties in infancy, abnormal reflex, Axial hypotonia, seizure, hypertonia, myoclonus, hypertelorism, micrognathism, Spastic tetraparesis, lissencephaly, craniosynostosis, ichthyosis, delayed myelination, Nasogastric tube feeding[10][11][12][13][14][15][16][17][18][19][20][21][22][23]
On focus list of Wikimedia project
WikiProject Medicine[9]
Prevalence
+0.000001[5]
🏷️ Also known as
en Phosphoserine aminotransferase deficiency en PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY; PSATD en PSATD en PSAT deficiency fr déficit en phosphosérine aminotransférase
🔖 Identifiers · 12
Disease Ontology ID
DOID:0050723
Exact match
purl.obolibrary.org, identifiers.org, www.orpha.net
GARD rare disease ID
13273
ICD-10-CM
E72.8
KEGG ID
H01082
MeSH descriptor ID
C567032
Mondo ID
MONDO_0012596
OMIM ID
610992
Orphanet ID
284417
Raras disease ID
D284417
UMLS CUI
C1970253
UniProt disease ID
DI-02163

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Summary

PSAT deficiency is a rare disease[1]. It is a type of serine deficiency[2] and genetic syndromic intellectual disability[3].

References

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

Direct Wikidata claims

  1. [4] ↑ . wikidata.org.
  2. [2] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [3] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  4. [5] ↑ . Retrieved . wikidata.org.
  5. [6] ↑ . UniProt. Retrieved . wikidata.org.
  6. [7] ↑ . Retrieved . wikidata.org.
  7. [8] ↑ . Retrieved . wikidata.org.
  8. [9] ↑ . wikidata.org.
  9. [10] ↑ . Retrieved . 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.
  16. [17] ↑ . Retrieved . wikidata.org.
  17. [18] ↑ . Retrieved . wikidata.org.
  18. [19] ↑ . Retrieved . wikidata.org.
  19. [20] ↑ . Retrieved . wikidata.org.
  20. [21] ↑ . Retrieved . wikidata.org.
  21. [22] ↑ . Retrieved . wikidata.org.
  22. [23] ↑ . 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). PSAT deficiency. Retrieved October 23, 2026, from https://4ort.xyz/entity/psat-deficiency
MLA “PSAT deficiency.” 4ort.xyz Knowledge Graph, 4ort.xyz, 23 Oct. 2026, https://4ort.xyz/entity/psat-deficiency.
BibTeX @misc{4ortxyz_psat-deficiency_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{PSAT deficiency}}, year = {2026}, url = {https://4ort.xyz/entity/psat-deficiency}, note = {Accessed: 2026-10-23}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): PSAT deficiency — https://4ort.xyz/entity/psat-deficiency (retrieved 2026-10-23)

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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. 18d ago · ACorrêa (WMB) · 2026-10-23 view diff on Wikidata ↗
    UniProt disease ID → DI-02163
    MeSH descriptor ID → C567032
    Mondo ID → MONDO_0012596
    Instance of → rare disease, class of disease
    + 16 other properties edited (see Wikidata diff for full list)
    "Changed labels, descriptions, aliases and claims: QuickStatements 3.0 batch #61469: Raras.org data import"
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