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Asphyxiating thoracic dystrophy 5

MONDO:0013717

Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene.

Also known as: ATD5, Jeune syndrome caused by mutation in WDR19, SRTD5, WDR19 Jeune syndrome, asphyxiating thoracic dystrophy 5, asphyxiating thoracic dystrophy type 5, short-rib thoracic dysplasia 5 with or without polydactyly

1 clinical trial for this condition and its sub-types.

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Broader categories

Disease (680) Kidney disorder (214) Musculoskeletal system disorder (207) Hereditary disease (176) Respiratory system disorder (137) Urinary system disorder (66) Bone disorder (51) Syndromic disease (25) Human disease (14) Skeletal system disorder (4)
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  • 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: PHASE3 • Sponsor: Children's Hospital of Fudan University • Aim: Disease control

    Last updated Jul 08, 2026 00:00 UTC

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