Barth syndrome

lipid metabolism disorder that has material basis in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin
MedicalCondition developmental_defect_during_embryogenesis Q928424
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Barth syndrome

Summary

Barth syndrome is a developmental defect during embryogenesis[1]. It has Wikipedia articles in 13 language editions, a strong signal of global cultural recognition.[2]

Key Facts

  • Barth syndrome's instance of is recorded as developmental defect during embryogenesis[3].
  • Barth syndrome's instance of is recorded as rare disease[4].
  • Barth syndrome's instance of is recorded as class of disease[5].
  • Barth syndrome is a type of lipid metabolism disorder[6].
  • Barth syndrome is a type of 3-methylglutaconic aciduria[7].
  • Barth syndrome is a type of syndromic dyslipidemia[8].
  • Barth syndrome is a type of mitochondrial myopathy[9].
  • Barth syndrome is a type of constitutional neutropenia with extra-hematopoietic manifestations[10].
  • Barth syndrome is a type of disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement[11].
  • Barth syndrome is a type of mitochondrial disease with dilated cardiomyopathy[12].
  • Barth syndrome is a type of X-linked recessive disease[13].
  • Barth syndrome's Commons category is recorded as Barth syndrome[14].
  • Barth syndrome's symptoms and signs is recorded as failure to thrive[15].
  • Barth syndrome's symptoms and signs is recorded as palmoplantar keratosis[16].
  • Barth syndrome's symptoms and signs is recorded as hypertrophic cardiomyopathy[17].
  • Barth syndrome's symptoms and signs is recorded as endocardial fibroelastosis[18].
  • Barth syndrome's symptoms and signs is recorded as Macrotia[19].
  • Barth syndrome's symptoms and signs is recorded as exercise intolerance[20].
  • Barth syndrome's symptoms and signs is recorded as lipoatrophy[21].
  • Barth syndrome's symptoms and signs is recorded as dilated cardiomyopathy[22].
  • Barth syndrome's symptoms and signs is recorded as clubfoot[23].
  • Barth syndrome's symptoms and signs is recorded as organic acidemia[24].
  • Barth syndrome's symptoms and signs is recorded as 3-methylglutaconic aciduria[25].
  • Barth syndrome's symptoms and signs is recorded as fatigue[26].
  • Barth syndrome's symptoms and signs is recorded as progenism[27].

Why It Matters

Barth syndrome has Wikipedia articles in 13 language editions, a strong signal of global cultural recognition.[2] It is known by 25 alternative names across languages and contexts.[28]

References

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

Direct Wikidata claims

  1. [3] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  2. [4] . wikidata.org.
  3. [5] . wikidata.org.
  4. [6] . Disease Ontology. Retrieved . wikidata.org.
  5. [7] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [8] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  7. [9] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  8. [10] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  9. [11] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  10. [12] . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  11. [13] . Disease Ontology. Retrieved . wikidata.org.
  12. [14] . wikidata.org.
  13. [15] . TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome. wikidata.org.
  14. [16] . TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome. wikidata.org.
  15. [17] . TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome. wikidata.org.
  16. [18] . TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome. wikidata.org.
  17. [19] . TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome. wikidata.org.
  18. [20] . TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome. wikidata.org.
  19. [21] . TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome. wikidata.org.
  20. [22] . TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome. wikidata.org.
  21. [23] . TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome. wikidata.org.
  22. [24] . TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome. wikidata.org.
  23. [25] . TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome. wikidata.org.
  24. [26] . TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome. wikidata.org.
  25. [27] . TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome. wikidata.org.

Class ancestry

  1. [1] . Wikidata. wikidata.org.

Aggregate / graph-position facts

  1. [2] . Wikidata sitelinks. wikidata.org.
  2. [28] . 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). Barth syndrome. Retrieved May 3, 2026, from https://4ort.xyz/entity/barth-syndrome
MLA “Barth syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/barth-syndrome.
BibTeX @misc{4ortxyz_barth-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{Barth syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/barth-syndrome}, note = {Accessed: 2026-05-03}}
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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. 13d ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Subclass of lipid metabolism disorder, 3-methylglutaconic aciduria, syndromic dyslipidemia +5
    Health specialty endocrinology
    Genetic association TAFAZZIN
    Has phenotype Full cheeks, Recurrent infections in infancy and early childhood, Round face +9
    + 6 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39742|batch #39742]]: subclass of disease, not instance"
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