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 patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation see genitopatellar syndrome
• Absent vasa see congenital bilateral absence of the vas deferens
• Acral dysostosis with facial and genital abnormalities see Robinow syndrome
• adenine phosphoribosyltransferase deficiency
• ADH-resistant diabetes insipidus see nephrogenic diabetes insipidus
• aHUS see atypical hemolytic-uremic syndrome
• Albright hereditary osteodystrophy-like syndrome see 2q37 deletion syndrome
• aldosteronism with hyperplasia of the adrenal cortex see Bartter syndrome
• Allanson Pantzar McLeod syndrome see renal tubular dysgenesis
• 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
• Antley-Bixler syndrome-like phenotype with disordered steroidogenesis see cytochrome P450 oxidoreductase deficiency
• Antley-Bixler syndrome with disordered steroidogenesis see cytochrome P450 oxidoreductase deficiency
• APRT deficiency see adenine phosphoribosyltransferase deficiency
• atypical hemolytic-uremic syndrome
• autosomal dominant familial hematuria, retinal arteriolar tortuosity, contractures see hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
• autosomal dominant interstitial kidney disease see medullary cystic kidney disease type 1
• autosomal dominant medullary cystic kidney disease see medullary cystic kidney disease type 1
• autosomal dominant MYH9 spectrum disorders see MYH9-related disorder
• Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome
• Bardet-Biedl syndrome
• Bartter syndrome
• BBS see Bardet-Biedl 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 complex
• Bourneville Phakomatosis see tuberous sclerosis complex
• brachydactyly-mental retardation syndrome see 2q37 deletion 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
• caudal regression 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
• central diabetes insipidus see neurohypophyseal diabetes insipidus
• ceramide trihexosidase deficiency see Fabry disease
• cerebelloretinal angiomatosis, familial see von Hippel-Lindau syndrome
• Cerebral gigantism see Sotos syndrome
• cerebral sclerosis see tuberous sclerosis complex
• 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
• combined partial deficiency of 17-hydroxylase and 21-hydroxylase see cytochrome P450 oxidoreductase deficiency
• complete HPRT deficiency see Lesch-Nyhan syndrome
• complete hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome
• congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 deficiency see cytochrome P450 oxidoreductase deficiency
• congenital bilateral absence of the vas deferens
• congenital hereditary hematuria see Alport syndrome
• congenital nephrogenic diabetes insipidus see nephrogenic diabetes insipidus
• conorenal dysplasia see Mainzer-Saldino syndrome
• conorenal syndrome see Mainzer-Saldino syndrome
• Conotruncal anomaly face syndrome (CTAF) see 22q11.2 deletion syndrome
• CSNU see cystinuria
• cystine storage disease see cystinosis
• cystinosis
• cystinuria
• cytochrome P450 oxidoreductase deficiency
• D-glycerate dehydrogenase deficiency see primary hyperoxaluria
• DBS see Donnai-Barrow syndrome
• DDD see dense deposit disease
• DDS see Denys-Drash syndrome
• deficiency of guanine phosphoribosyltransferase see Lesch-Nyhan syndrome
• deficiency of hypoxanthine phosphoribosyltransferase see Lesch-Nyhan syndrome
• del(4p) syndrome see Wolf-Hirschhorn syndrome
• 2q37 deletion syndrome
• 4p deletion syndrome see Wolf-Hirschhorn syndrome
• 11p deletion syndrome see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
• 11q deletion disorder see Jacobsen syndrome
• 11q- deletion syndrome see Jacobsen syndrome
• 11q23 deletion disorder see Jacobsen syndrome
• 22q11.2 deletion syndrome
• dense deposit disease
• Dent disease
• Denys-Drash syndrome
• Der(22) syndrome due to 3:1 meiotic disjunction events see Emanuel syndrome
• DGSX see Simpson-Golabi-Behmel syndrome
• DHA crystalline nephropathy see adenine phosphoribosyltransferase deficiency
• diabetes insipidus, central see neurohypophyseal diabetes insipidus
• diabetes insipidus, nephrogenic see nephrogenic diabetes insipidus
• diabetes insipidus, neurogenic see neurohypophyseal diabetes insipidus
• diabetes insipidus, neurohypophyseal see neurohypophyseal diabetes insipidus
• diabetes insipidus, pituitary see neurohypophyseal diabetes insipidus
• diabetes insipidus renalis see nephrogenic diabetes insipidus
• diabetes insipidus secondary to vasopressin deficiency see neurohypophyseal diabetes insipidus
• diaphragmatic hernia, abnormal face, and distal limb anomalies see Fryns syndrome
• diaphragmatic hernia-exomphalos-corpus callosum agenesis see Donnai-Barrow syndrome
• Diaphragmatic hernia-exomphalos-hypertelorism syndrome see Donnai-Barrow syndrome
• DiGeorge Syndrome see 22q11.2 deletion syndrome
• 2,8-dihydroxyadenine urolithiasis see adenine phosphoribosyltransferase deficiency
• 2,8-dihydroxyadeninuria see adenine phosphoribosyltransferase deficiency
• Donnai-Barrow syndrome
• Drash syndrome see Denys-Drash syndrome
• DRRS see Duane-radial ray syndrome
• Duane-radial ray syndrome
• dysencephalia splanchnocystica see Meckel syndrome
• dysplasia linguofacialis see oral-facial-digital syndrome
• Emanuel syndrome
• EMG syndrome see Beckwith-Wiedemann syndrome
• Epiloia see tuberous sclerosis complex
• Exomphalos-Macroglossia-Gigantism Syndrome see Beckwith-Wiedemann syndrome
• Fabry disease
• faciooculoacousticorenal syndrome see Donnai-Barrow syndrome
• Familial gout-kidney disease see uromodulin-associated kidney disease
• Familial gouty nephropathy see uromodulin-associated kidney disease
• familial hyperpotassemia and hypertension see pseudohypoaldosteronism type 2
• familial hypertensive hyperkalemia see pseudohypoaldosteronism type 2
• familial hypokalemia-hypomagnesemia see Gitelman syndrome
• Familial juvenile hyperuricemic nephropathy see uromodulin-associated kidney disease
• Familial juvenile hyperuricemic nephropathy 2 see REN-related kidney disease
• familial Mediterranean fever
• Fetal face syndrome see Robinow syndrome
• fibrofolliculomas with trichodiscomas and acrochordons see Birt-Hogg-Dubé syndrome
• FJHN see uromodulin-associated kidney disease
• FMF see familial Mediterranean fever
• FOAR syndrome see Donnai-Barrow syndrome
• Frasier syndrome
• Fryns syndrome
• FS see Frasier syndrome
• genitopatellar syndrome
• Gitelman syndrome
• GLA deficiency see Fabry disease
• glyceric aciduria see primary hyperoxaluria
• glycogen storage disease type I
• glycolic aciduria see primary hyperoxaluria
• Gordon hyperkalemia-hypertension syndrome see pseudohypoaldosteronism type 2
• gout, PRPS-related see phosphoribosylpyrophosphate synthetase superactivity
• GPS see genitopatellar syndrome
• GS see Gitelman syndrome
• GSD I see glycogen storage disease type I
• GSD type I see glycogen storage disease type I
• HANAC see hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
• 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 angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
• 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
• HGPRT deficiency see Lesch-Nyhan syndrome
• Hippel-Lindau disease see von Hippel-Lindau syndrome
• Hornstein-Birt-Hogg-Dubé syndrome see Birt-Hogg-Dubé syndrome
• Hornstein-Knickenberg syndrome see Birt-Hogg-Dubé syndrome
• HP1 see primary hyperoxaluria
• HP2 see primary hyperoxaluria
• hydronephrosis-inverted smile see Ochoa syndrome
• hydronephrosis with peculiar facial expression see Ochoa syndrome
• Hyperoxaluria, Primary see primary hyperoxaluria
• hypokalemia-hypomagnesemia, primary renotubular, with hypocalciuria see Gitelman syndrome
• hypoxanthine guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome
• hypoxanthine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome
• immunoosseous dysplasia, Schimke type see Schimke immuno-osseous dysplasia
• inverted smile and occult neuropathic bladder see Ochoa syndrome
• inverted smile-neurogenic bladder see Ochoa syndrome
• Jacobsen syndrome
• juvenile gout, choreoathetosis, mental retardation syndrome see Lesch-Nyhan syndrome
• juvenile hyperuricemia syndrome see Lesch-Nyhan syndrome
• juxtaglomerular hyperplasia with secondary aldosteronism see Bartter syndrome
• LAM see lymphangioleiomyomatosis
• Laurence-Moon-Bardet-Biedl syndrome see Bardet-Biedl syndrome
• Laurence-Moon-Biedl syndrome see Bardet-Biedl syndrome
• Laurence-Moon syndrome see Bardet-Biedl syndrome
• Lenz microphthalmia syndrome
• Lesch-Nyhan syndrome
• Liddle syndrome
• LMBBS see Bardet-Biedl syndrome
• LMS see Bardet-Biedl syndrome
• LND see Lesch-Nyhan syndrome
• LNS see Lesch-Nyhan syndrome
• Loken-Senior syndrome see Senior-Lřken syndrome
• Lowe syndrome
• lymphangioleiomyomatosis
• lymphangiomyomatosis see lymphangioleiomyomatosis
• MAA see Lenz microphthalmia syndrome
• Mainzer-Saldino syndrome
• Malignant tumor of urinary bladder see bladder cancer
• MCKD2 see uromodulin-associated kidney disease
• MCOPS1 see Lenz microphthalmia syndrome
• Meckel syndrome
• Mediterranean Fever, Familial see familial Mediterranean fever
• medullary cystic kidney disease type 1
• Medullary cystic kidney disease type 2 see uromodulin-associated kidney disease
• MEF see familial Mediterranean fever
• Melnick-Fraser syndrome see branchiootorenal syndrome
• membranoproliferative glomerulonephritis type II see dense deposit disease
• 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
• microphthalmia, syndromic 1 see Lenz microphthalmia syndrome
• MKS see Meckel syndrome
• monosomy 4p see Wolf-Hirschhorn syndrome
• MPGNII see dense deposit disease
• Muckle-Wells syndrome
• MWS see Muckle-Wells syndrome
• MYH9-related disorder
• MYH9RD see MYH9-related disorder
• MZSDS see Mainzer-Saldino syndrome
• NDI see nephrogenic diabetes insipidus
• nephrogenic diabetes insipidus
• nephropathy, Wilms tumor, and genital anomalies see Denys-Drash syndrome
• neurohypophyseal diabetes insipidus
• non-Shiga-like toxin-associated HUS see atypical hemolytic-uremic syndrome
• non-Stx-HUS see atypical hemolytic-uremic syndrome
• nonenteropathic HUS see atypical hemolytic-uremic syndrome
• Ochoa syndrome
• oculocerebrorenal syndrome see Lowe syndrome
• OFDS see oral-facial-digital 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
• oral-facial-digital syndrome
• oro-facio-digital syndrome see oral-facial-digital syndrome
• orodigitofacial dysostosis see oral-facial-digital syndrome
• orodigitofacial syndrome see oral-facial-digital syndrome
• orofaciodigital syndrome see oral-facial-digital syndrome
• Oxalosis see primary hyperoxaluria
• Oxaluria, Primary see primary hyperoxaluria
• papillorenal syndrome see renal coloboma syndrome
• 11p partial monosomy syndrome see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
• partial facial palsy with urinary abnormalities see Ochoa 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
• PHA1 see pseudohypoaldosteronism type 1
• phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency see Lowe syndrome
• phosphoribosylpyrophosphate synthetase superactivity
• pituitary diabetes insipidus see neurohypophyseal diabetes insipidus
• PKD see polycystic kidney disease
• polycystic kidney disease
• polycystic kidneys, medullary type see medullary cystic kidney disease type 1
• POR Deficiency see cytochrome P450 oxidoreductase deficiency
• PORD see cytochrome P450 oxidoreductase deficiency
• primary hyperoxaluria
• primary hyperuricemia syndrome see Lesch-Nyhan syndrome
• primitive renal tubule syndrome see renal tubular dysgenesis
• PRPP synthetase overactivity see phosphoribosylpyrophosphate synthetase superactivity
• PRPP synthetase superactivity see phosphoribosylpyrophosphate synthetase superactivity
• PRPS1 superactivity see phosphoribosylpyrophosphate synthetase superactivity
• PRS overactivity see phosphoribosylpyrophosphate synthetase superactivity
• PRS superactivity see phosphoribosylpyrophosphate synthetase superactivity
• pseudoaldosteronism see Liddle syndrome
• pseudohypoaldosteronism type 1
• pseudohypoaldosteronism type 2
• pseudoprimary hyperaldosteronism see Liddle syndrome
• RCS see renal coloboma syndrome
• Recurrent polyserositis see familial Mediterranean fever
• Reimann periodic disease see familial Mediterranean fever
• REN-related kidney disease
• renal coloboma syndrome
• renal dysplasia and retinal aplasia see Senior-Lřken syndrome
• renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia see Mainzer-Saldino syndrome
• renal-retinal syndrome see Senior-Lřken syndrome
• renal tubular dysgenesis
• Robinow syndrome
• RSTS see Rubinstein-Taybi syndrome
• RTS see Rubinstein-Taybi syndrome
• Rubinstein-Taybi syndrome
• sacral agenesis see caudal regression syndrome
• sacral defect with anterior meningocele see caudal regression syndrome
• Saldino-Mainzer dysplasia see Mainzer-Saldino syndrome
• Saldino-Mainzer syndrome see Mainzer-Saldino syndrome
• Schimke immuno-osseous dysplasia
• Schinzel-Giedion syndrome
• sclerosis tuberosa see tuberous sclerosis complex
• SDYS see Simpson-Golabi-Behmel syndrome
• Sedlackova syndrome see 22q11.2 deletion syndrome
• Senior-Lřken 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
• 11q terminal deletion disorder see Jacobsen syndrome
• total HPRT deficiency see Lesch-Nyhan syndrome
• total hypoxanthine-guanine phosphoribosyl transferase deficiency see Lesch-Nyhan syndrome
• tuberose sclerosis see tuberous sclerosis complex
• tuberous sclerosis complex
• tubular hypomagnesemia-hypokalemia with hypocalcuria see Gitelman syndrome
• type II MPGN see dense deposit disease
• UDA syndrome see Muckle-Wells syndrome
• UFS see Ochoa syndrome
• UMAK see uromodulin-associated kidney disease
• UMOD-related kidney disease see uromodulin-associated kidney disease
• Urinary bladder cancer see bladder cancer
• urofacial Ochoa's syndrome see Ochoa syndrome
• urofacial syndrome see Ochoa syndrome
• uromodulin-associated kidney disease
• Uromodulin storage disease see uromodulin-associated kidney disease
• urticaria-deafness-amyloidosis syndrome see Muckle-Wells syndrome
• VACTERL association
• vasopressin defective diabetes insipidus see neurohypophyseal diabetes insipidus
• vasopressin deficiency see neurohypophyseal diabetes insipidus
• vasopressin-resistant diabetes insipidus see nephrogenic diabetes insipidus
• VATER association see VACTERL association
• 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 Gierke disease see glycogen storage disease type I
• von Hippel-Lindau syndrome
• WAGR complex see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
• WAGR contiguous gene syndrome see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
• WAGR syndrome see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
• WHS see Wolf-Hirschhorn syndrome
• Wiedemann-Beckwith syndrome (WBS) see Beckwith-Wiedemann syndrome
• Wilms tumor and pseudohermaphroditism see Denys-Drash syndrome
• Wilms tumor, aniridia, genitourinary anomalies, and mental retardation 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