Table 3.

Renal cystic, interstitial and tumorous kidney diseases. (The leading diagnostic features are renal ultrasound findings of cysts, increased echogenicity, or tumor, respectively).

CYSTIC, INTERSTITIAL AND TUMOROUS KIDNEY DISEASES	OMIM No.	MOI	Characteristic signs and features	Gene symbol(s), gene product(s)
ADPKD, type 1	#601313	AD	Polycystic kidneys, liver cysts, brain aneurysms, CKD	PKD1, polycystin 1
ADPKD, type 2	#173910	AD	Polycystic kidneys, CKD	PKD2, polycystin 2
ARPKD	#263200	AR	Polycystic kidneys, liver fibrosis, CKD	PKHD1, fibrocystin/polyductin
Nephronophthisis types 1–9	#256100	AR	Polyuria, polydipsia, anemia, CKD	NPHP1-NPHP9, nephrocystin 1–9
Medullary cystic kidney disease	#174000	AD	Adult onset CKD, hyperuricemia, FJHN	UMOD, Tamm-Horsfall protein
Meckel-Gruber syndrome (MKS)	#249000 #607361	AR	Polycystic kidneys, multiple organ dysplasia, perinatal lethal	MKS1; MKS3, meckelin (also allelic with NPHP genes)
Bardet-Biedl syndrome types 1–12	#209900	AR	Retinitis pigmentosa, polydactyly, MR, hypogenitalism and obesity	BBS1-BBS12, BBS proteins
Tuberous sclerosis types 1 and 2	#191100 #191092	AD	Renal angiomyolipomas, skin changes, seizures	TSC1, hamartin TSC2, tuberin
von-Hippel-Lindau disease	#193300	AD	Lindau tumor, retinal angiomatosis, pheochromocytoma, renal tumor	VHL, Tumor suppressor gene g7
Wilms-tumor-aniridia syndrome	#194072	AD	Wilms tumour, aniridia, growth retardation	WT1, WT suppressor gene
Papillary renal cell carcinoma	#164860	AD	Papillary renal cell carcinoma	MET gene, protooncogen

ADPKD=autosomal dominant polycystic kidney disease, AD=autosomal dominant, AR=autosomal recessive, CNV=central nervous system, FJHN=familial juvenile hyperuricemic nephropathy, MR=mental retardation, XR=X-linked recessive