asphyxiating thoracic dystrophy 5
Findings
No curated finding names asphyxiating thoracic dystrophy 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene.
Definition from the Mondo Disease Ontology (MONDO:0013717), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
27 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.
- Acetabular spursHPOHP:0010454
- 1 of 1 reported patient
- Attenuation of retinal blood vesselsHPOHP:0007843
- 1 of 1 reported patient
- BrachydactylyHPOHP:0001156
- 1 of 1 reported patient
- Broad long bone diaphysesHPOHP:0006371
- 1 of 1 reported patient
- CataractHPOHP:0000518
- 1 of 1 reported patient
- Chronic tubulointerstitial nephritisHPOHP:0004743
- 1 of 1 reported patient
- Elevated circulating creatinine concentrationHPO
Show the remaining 15
- MyopiaHPOHP:0000545
- 1 of 1 reported patient
- Narrow chestHPOHP:0000774
- 1 of 1 reported patient
- Pes valgusHPOHP:0008081
- 1 of 1 reported patient
- ProteinuriaHPOHP:0000093
- 1 of 1 reported patient
- Renal hypoplasiaHPOHP:0000089
- 1 of 1 reported patient
- Restrictive ventilatory defectHPOHP:0002091
- 1 of 1 reported patient
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.
- WDR19HGNC:18340
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
6 names
Resolves to: asphyxiating thoracic dystrophy 5
- Also called
- asphyxiating thoracic dystrophy type 5ATD5Jeune syndrome caused by mutation in WDR19short-rib thoracic dysplasia 5 with or without polydactylySRTD5WDR19 Jeune syndrome