Kidneys and urinary system

The kidneys are responsible for removing wastes from the body, regulating blood pressure, and stimulating the production of red blood cells. Some disorders of the kidneys and urinary system are known to have a genetic component.

• Absence of vas deferens see congenital bilateral absence of the vas deferens
• Absent vasa see congenital bilateral absence of the vas deferens
• Acral dysostosis with facial and genital abnormalities see Robinow syndrome
• ALMS see Alström syndrome
• Alpha-galactosidase A deficiency see Fabry disease
• Alport syndrome
• Alström syndrome
• Anderson-Fabry Disease see Fabry disease
• Angiokeratoma Corporis Diffusum see Fabry disease
• Angiokeratoma diffuse see Fabry disease
• Angiomatosis retinae see von Hippel-Lindau syndrome
• Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome
• Beckwith-Wiedemann syndrome
• Benign paroxysmal peritonitis see familial Mediterranean fever
• BHD see Birt-Hogg-Dubé syndrome
• Birt-Hogg-Dubé syndrome
• bladder cancer
• BOR see branchiootorenal syndrome
• Bourneville Disease see tuberous sclerosis
• Bourneville Phakomatosis see tuberous sclerosis
• Branchio-Oculo-Facial Syndrome see branchiootorenal syndrome
• Branchio-Oto-Renal Syndrome see branchiootorenal syndrome
• Branchio-Otorenal Dysplasia see branchiootorenal syndrome
• Branchio-Otorenal Syndrome see branchiootorenal syndrome
• branchiootorenal syndrome
• Broad Thumb-Hallux Syndrome see Rubinstein-Taybi syndrome
• BWS see Beckwith-Wiedemann syndrome
• Cancer of the bladder see bladder cancer
• CATCH22 see 22q11.2 deletion syndrome
• CAVD see congenital bilateral absence of the vas deferens
• Cayler cardiofacial syndrome see 22q11.2 deletion syndrome
• CBAVD see congenital bilateral absence of the vas deferens
• Ceramide trihexosidase deficiency see Fabry disease
• Cerebelloretinal Angiomatosis, Familial see von Hippel-Lindau syndrome
• Cerebral gigantism see Sotos syndrome
• cerebral sclerosis see tuberous sclerosis
• Cerebrooculorenal Syndrome see Lowe syndrome
• Choreoathetosis self-mutilation syndrome see Lesch-Nyhan syndrome
• chromosome 4p deletion syndrome see Wolf-Hirschhorn syndrome
• chromosome 4p monosomy see Wolf-Hirschhorn syndrome
• coloboma of optic nerve with renal disease see renal coloboma syndrome
• coloboma-ureteral-renal syndrome see renal coloboma syndrome
• Complete HPRT deficiency see Lesch-Nyhan syndrome
• Complete hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome
• congenital bilateral absence of the vas deferens
• congenital hereditary hematuria see Alport syndrome
• Conotruncal anomaly face syndrome (CTAF) see 22q11.2 deletion syndrome
• CSNU see cystinuria
• Cystine storage disease see cystinosis
• Cystinoses see cystinosis
• cystinosis
• cystinuria
• D-glycerate dehydrogenase deficiency see primary hyperoxaluria
• Deficiency of guanine phosphoribosyltransferase see Lesch-Nyhan syndrome
• Deficiency of hypoxanthine phosphoribosyltransferase see Lesch-Nyhan syndrome
• del(4p) syndrome see Wolf-Hirschhorn syndrome
• 4p Deletion Syndrome see Wolf-Hirschhorn syndrome
• 22q11.2 deletion syndrome
• Der(22) syndrome due to 3:1 meiotic disjunction events see Emanuel syndrome
• DGSX see Simpson-Golabi-Behmel syndrome
• DiGeorge Syndrome see 22q11.2 deletion syndrome
• DRRS see Duane-radial ray syndrome
• Duane-radial ray syndrome
• Emanuel syndrome
• EMG syndrome see Beckwith-Wiedemann syndrome
• Epiloia see tuberous sclerosis
• Exomphalos-Macroglossia-Gigantism Syndrome see Beckwith-Wiedemann syndrome
• Fabry disease
• familial Mediterranean fever
• Fetal face syndrome see Robinow syndrome
• Fibrofolliculomas with trichodiscomas and acrochordons see Birt-Hogg-Dubé syndrome
• FMF see familial Mediterranean fever
• GLA deficiency see Fabry disease
• glyceric aciduria see primary hyperoxaluria
• glycolic aciduria see primary hyperoxaluria
• hand-foot-genital syndrome
• Hand-foot-uterus syndrome see hand-foot-genital syndrome
• hematuria-nephropathy-deafness syndrome see Alport syndrome
• hematuric hereditary nephritis see Alport syndrome
• hemorrhagic familial nephritis see Alport syndrome
• hemorrhagic hereditary nephritis see Alport syndrome
• hepatic AGT deficiency see primary hyperoxaluria
• Hereditary dystopic lipidosis see Fabry disease
• hereditary familial congenital hemorrhagic nephritis see Alport syndrome
• hereditary hematuria syndrome see Alport syndrome
• hereditary interstitial pyelonephritis see Alport syndrome
• Hereditary nephritis see Alport syndrome
• Hereditary Periodic Fever Syndromes see familial Mediterranean fever
• HFG syndrome see hand-foot-genital syndrome
• HFGS see hand-foot-genital syndrome
• HFU syndrome see hand-foot-genital syndrome
• Hippel-Lindau Disease see von Hippel-Lindau syndrome
• Hornstein-Knickenberg syndrome see Birt-Hogg-Dubé syndrome
• HP1 see primary hyperoxaluria
• HP2 see primary hyperoxaluria
• Hyperoxaluria, Primary see primary hyperoxaluria
• hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency see Lesch-Nyhan syndrome
• immunoosseous dysplasia, Schimke type see Schimke immuno-osseous dysplasia
• Juvenile gout, choreoathetosis, mental retardation syndrome see Lesch-Nyhan syndrome
• Juvenile hyperuricemia syndrome see Lesch-Nyhan syndrome
• Lenz microphthalmia syndrome
• Lesch-Nyhan syndrome
• LNS see Lesch-Nyhan syndrome
• Lowe syndrome
• MAA see Lenz microphthalmia syndrome
• Malignant tumor of urinary bladder see bladder cancer
• MCOPS1 see Lenz microphthalmia syndrome
• Mediterranean Fever, Familial see familial Mediterranean fever
• MEF see familial Mediterranean fever
• Melnick-Fraser syndrome see branchiootorenal syndrome
• mental retardation-overgrowth syndrome see Simpson-Golabi-Behmel syndrome
• mesomelic dwarfism-small genitalia syndrome see Robinow syndrome
• microphthalmia or anophthalmos with associated anomalies see Lenz microphthalmia syndrome
• monosomy 4p see Wolf-Hirschhorn syndrome
• Muckle-Wells syndrome
• MWS see Muckle-Wells syndrome
• Oculocerebrorenal Syndrome see Lowe syndrome
• Okihiro syndrome see Duane-radial ray syndrome
• ONCR see renal coloboma syndrome
• optic coloboma, vesicoureteral reflux, and renal anomalies see renal coloboma syndrome
• optic nerve coloboma renal syndrome see renal coloboma syndrome
• Oxalosis see primary hyperoxaluria
• Oxaluria, Primary see primary hyperoxaluria
• papillorenal syndrome see renal coloboma syndrome
• partial monosomy 4p see Wolf-Hirschhorn syndrome
• Periodic Disease see familial Mediterranean fever
• Periodic peritonitis see familial Mediterranean fever
• peroxisomal alanine:glyoxylate aminotransferase deficiency see primary hyperoxaluria
• Phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency see Lowe syndrome
• PKD see polycystic kidney disease
• polycystic kidney disease
• primary hyperoxaluria
• Primary hyperuricemia syndrome see Lesch-Nyhan syndrome
• RCS see renal coloboma syndrome
• Recurrent polyserositis see familial Mediterranean fever
• Reimann periodic disease see familial Mediterranean fever
• renal coloboma syndrome
• Robinow syndrome
• RSTS see Rubinstein-Taybi syndrome
• RTS see Rubinstein-Taybi syndrome
• Rubinstein-Taybi syndrome
• Schimke immuno-osseous dysplasia
• sclerosis tuberosa see tuberous sclerosis
• SDYS see Simpson-Golabi-Behmel syndrome
• Sedlackova syndrome see 22q11.2 deletion syndrome
• SGBS see Simpson-Golabi-Behmel syndrome
• Shprintzen syndrome see 22q11.2 deletion syndrome
• Siegal-Cattan-Mamou disease see familial Mediterranean fever
• Simpson dysplasia syndrome see Simpson-Golabi-Behmel syndrome
• Simpson-Golabi-Behmel syndrome
• Simpson syndrome see Simpson-Golabi-Behmel syndrome
• SIOD see Schimke immuno-osseous dysplasia
• Sotos syndrome
• Supernumary der(22) syndrome see Emanuel syndrome
• Supernumary der(22)t(11;22) syndrome see Emanuel syndrome
• Supernumary derivative 22 chromosome syndrome see Emanuel syndrome
• 4p- syndrome see Wolf-Hirschhorn syndrome
• Total HPRT deficiency see Lesch-Nyhan syndrome
• Total hypoxanthine-guanine phosphoribosyl transferase deficiency see Lesch-Nyhan syndrome
• tuberose sclerosis see tuberous sclerosis
• tuberous sclerosis
• UDA syndrome see Muckle-Wells syndrome
• Urinary bladder cancer see bladder cancer
• urticaria-deafness-amyloidosis syndrome see Muckle-Wells syndrome
• VCFS see 22q11.2 deletion syndrome
• Velo-cardio-facial syndrome see 22q11.2 deletion syndrome
• Velocardiofacial syndrome see 22q11.2 deletion syndrome
• VHL syndrome see von Hippel-Lindau syndrome
• von Hippel-Lindau syndrome
• WHS see Wolf-Hirschhorn syndrome
• Wiedemann-Beckwith syndrome (WBS) see Beckwith-Wiedemann syndrome
• Wolf-Hirschhorn syndrome
• Wolff Periodic Disease see familial Mediterranean fever
• X-linked hyperuricemia see Lesch-Nyhan syndrome
• X-linked primary hyperuricemia see Lesch-Nyhan syndrome
• X-linked uric aciduria enzyme defect see Lesch-Nyhan syndrome