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GTR Home > Conditions/Phenotypes > Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

Synonyms
CHROMOSOME 16p13.3 DELETION SYNDROME, DISTAL; POLYCYSTIC KIDNEY DISEASE, INFANTILE SEVERE, WITH TUBEROUS SCLEROSIS; Polycystic kidneys, severe infantile with tuberous sclerosis; Tuberous sclerosis polycystic kidney disease contiguous gene syndrome
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Disease with characteristics of early-onset severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). A contiguous gene syndrome caused by a large deletion involving both the PKD1 and TSC2 genes (16p13.3). Transmission is autosomal dominant. [from SNOMEDCT_US]

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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