Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

asphyxiating thoracic dystrophy 5 (ATD5) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

asphyxiating thoracic dystrophy 5

MONDO:0013717

Also known as:ATD5Jeune syndrome caused by mutation in WDR19SRTD5

Overview

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

GeneticsAutosomal recessive · WDR19 (chr 4)

OnsetCHILDHOOD

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Chronic tubulointerstitial nephritis, Stage 5 chronic kidney disease, Metaphyseal widening, and Rhizomelia and others. 27 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	6	Chronic tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal hypoplasia

Genetic Landscape

WDR19 function has not been fully characterized.

Asphyxiating thoracic dystrophy 5 is associated with mutations in the WDR19 gene on chromosome 4.

Diagnosis

Genetic testing for WDR19 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 26 always present features.

Data assembled from 4 of 12 sources · Last updated Nov 4, 2026, 5:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614376

GARD

Genetic and Rare Diseases Info Center

GARD:15795

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

asphyxiating thoracic dystrophy 5

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features