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Asphyxiating thoracic dystrophy 3

MONDO:0013127

An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.

Also known as: ATD3, DYNC2H1-related short rib thoracic dysplasia, SRPS type 1, SRPS type 3, SRPS1, SRPS2B, SRPS3, SRTD3

1 clinical trial for this condition and its sub-types, 0 tagged with Asphyxiating thoracic dystrophy 3 itself.

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Part of

↑ Jeune syndrome (2)

Including sub-types (1) Tagged with Asphyxiating thoracic dystrophy 3 (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