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autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

MONDO:0010856

Also known as:tuberous sclerosis/polycystic kidney disease contiguous gene syndromePKDTSchromosome 16P13.3 deletion syndrome, distal

Overview

Polycystic kidney disease with tuberous sclerosis (PKD-TSC) is characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system).

GeneticsAutosomal dominant

OnsetINFANTILE

ResearchLimited published research (3 articles)

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: Cortical tubers, Renal angiomyolipoma, and Polycystic kidney dysplasia.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	2	Renal angiomyolipoma, Polycystic kidney dysplasia

Age of onset: infancy.

Explore clinical features

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis.

3 publications have been identified in PubMed for autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis. Research spans Other (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

Woodford MR (2026). [PMID: 41429943](https://pubmed.ncbi.nlm.nih.gov/41429943/). *EMBO molecular medicine*. [Basic Science / Preclinical]
Bougrine I (2024). [PMID: 38983288](https://pubmed.ncbi.nlm.nih.gov/38983288/). *Radiology case reports*. [Case Report / Case Series]
Ventayol-Guirado M (2024). [PMID: 39095963](https://pubmed.ncbi.nlm.nih.gov/39095963/). *American journal of medical genetics. Part A*. [Other]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:49 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600273

Orphanet

European rare disease database

Orphanet:88924

GARD

Genetic and Rare Diseases Info Center

GARD:9481

Questions for Your Care Team

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autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

Overview

Clinical Presentation

Explore clinical features

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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