Barth syndrome
Sign in to saveAlso known as 3-methylglutaconicaciduria type 2, 3-methylglutaconicaciduria type II, MGA Type 2, MGA type II, Cardioskeletal Myopathy With Neutropenia and Abnormal Mitochondria, Cardioskeletal myopathy-neutropenia syndrome, MGA2
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
In the Vinony graph
Vinony's link graph records 98 inbound references to Barth syndrome, and connects out to sex linkage, 3-methylglutaconic aciduria and bone.
It is catalogued under topics including Mitochondrial diseases, Phospholipid metabolism disorders and Rare diseases.
Vinony links it to 16 Wikipedia language editions.
Research
1,071 papers- Barth Syndrome Cardiomyopathy: An Update.Genes · 2022
- Barth syndrome.American journal of medical genetics. Part C, Seminars in medical genetics · 2013
- Barth Syndrome.1993
- Experimental models of Barth syndrome.Journal of inherited metabolic disease · 2022
- Barth syndrome.Orphanet journal of rare diseases · 2013
via PubMed
Wikidata facts
- Image
- Barth syndrome consistent facial features of boys (Orphanet Journal of Rare Diseases Clarke et al).jpg
Show 6 more facts
- health specialty
- endocrinology
- NCI Thesaurus ID
- C84585
- Commons category
- Barth syndrome
- exact match
- www.orpha.net/ORDO/Orphanet_111
- on focus list of Wikimedia project
- WikiProject Medicine
- symptoms and signs
- sensorineural hearing loss
Sources (6)
via Wikidata · CC0