Asphyxiating thoracic dystrophy 2

MONDO:0012644

Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene.

Also known as: ATD2, IFT80 Jeune syndrome, Jeune syndrome caused by mutation in IFT80, SRTD2, asphyxiating thoracic dystrophy 2, asphyxiating thoracic dystrophy type 2, short-rib thoracic dysplasia 2 with or without polydactyly

1 clinical trial for this condition and its sub-types, 0 tagged with Asphyxiating thoracic dystrophy 2 itself.

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Where it sits in the disease tree

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Part of

↑ Jeune syndrome (2)

Including sub-types (1) Tagged with Asphyxiating thoracic dystrophy 2 (0)

Trials to join now! 1

Could a diabetes drug protect kidneys in children with genetic disease?

Disease control Recruiting now

This study tests whether adding dapagliflozin (a diabetes drug) to standard care reduces protein leakage in the urine of children with hereditary kidney diseases. About 44 children will receive either dapagliflozin plus standard care or standard care alone for 12 weeks, then swit…

Phase 3 • Sponsor: Children's Hospital of Fudan University • Aim: Disease control

Last updated Jul 08, 2026 00:00 UTC

Asphyxiating thoracic dystrophy 2

Where it sits in the disease tree

Could a diabetes drug protect kidneys in children with genetic disease?