Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
Findings
No curated finding names Diamond-Blackfan anemia 14 with mandibulofacial dysostosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the TSR2 gene.
Definition from the Mondo Disease Ontology (MONDO:0010493), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
13 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cleft palateHPOHP:0000175
- 2 of 2 reported patients
- Conductive hearing impairmentHPOHP:0000405
- 2 of 2 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 2 of 2 reported patients
- Increased mean corpuscular volumeHPOHP:0005518
- 2 of 2 reported patients
- MicrognathiaHPOHP:0000347
- 2 of 2 reported patients
- MicrotiaHPOHP:0008551
- 2 of 2 reported patients
- Midface retrusionHPOHP:0011800
Show the remaining 1
- Elevated red cell adenosine deaminase activityHPOHP:0030270
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TSR2HGNC:25455
- Limited · Ambry Genetics · X-linked · 2025
- Limited · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Limited · PanelApp Australia · X-linked · 2025
Where it sits
- A kind of
Other names
6 names
Resolves to: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
- Also called
- Diamond-Blackfan anaemia 14 with mandibulofacial dysostosis, X-linked recessiveDiamond-Blackfan anaemia caused by mutation in TSR2Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, X-linked recessiveDiamond-Blackfan anemia caused by mutation in TSR2TSR2 Diamond-Blackfan anaemiaTSR2 Diamond-Blackfan anemia