Kidney and urinary diseases

• 11-beta-hydroxylase deficiency

• 17-alpha-hydroxylase deficiency

• 17-beta hydroxysteroid dehydrogenase 3 deficiency

• 22q11.2 deletion syndrome

• 3-beta-hydroxysteroid dehydrogenase deficiency

• 46,XX testicular disorder of sex development

• 48,XXXY syndrome

• 48,XYYY

• 49, XXXXY syndrome

• 5-alpha reductase deficiency

• Aarskog syndrome

• Abruzzo-Erickson syndrome

• Acro-pectoro-renal field defect

• Acroosteolysis dominant type

• Acute intermittent porphyria

• Addison's disease

• Adenine phosphoribosyltransferase deficiency

• Adrenocortical carcinoma

• Adult-onset Still's disease

• ALG8-CDG (CDG-Ih)

• Allain-Babin-Demarquez syndrome

• Alpha-1 antitrypsin deficiency

• Alpha-thalassemia x-linked intellectual disability syndrome

• Alport syndrome

• Alström syndrome

• Amelogenesis imperfecta nephrocalcinosis

• Amyopathic dermatomyositis

• Aniridia renal agenesis psychomotor retardation

• Anorchia

• AREDYLD

• Aromatase deficiency

• Arthrogryposis renal dysfunction cholestasis syndrome

• Autosomal dominant distal renal tubular acidosis

• Autosomal dominant intermediate Charcot-Marie-Tooth disease type E - See Autosomal dominant intermediate Charcot-Marie-Tooth

• Autosomal dominant polycystic kidney disease - Not a rare disease

• Autosomal dominant pseudohypoaldosteronism type 1

• Autosomal dominant tubulointerstitial kidney disease

• Autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations

• Autosomal dominant tubulointerstitial kidney disease due to REN mutations

• Autosomal dominant tubulointerstitial kidney disease due to UMOD mutations

• Autosomal recessive Alport syndrome

• Autosomal recessive polycystic kidney disease

• Autosomal recessive pseudohypoaldosteronism type 1

• Barakat syndrome

• Bardet-Biedl syndrome

• Bardet-Biedl syndrome 1

• Bardet-Biedl syndrome 10

• Bardet-Biedl syndrome 11

• Bardet-Biedl syndrome 12

• Bardet-Biedl syndrome 2

• Bartter syndrome type 3

• Bartter syndrome type 4

• Behçet disease

• Bifid nose with or without anorectal and renal anomalies

• Birt-Hogg-Dube syndrome

• BK-virus nephropathy

• Blue diaper syndrome

• Brachioskeletogenital syndrome

• Branchiootorenal syndrome

• Buerger disease

• Campomelic dysplasia

• Cat eye syndrome

• Caudal regression sequence

• CHARGE syndrome

• Chromosome 17q11.2 deletion syndrome

• Chromosome 8p23.1 deletion

• Collecting duct carcinoma

• Complete androgen insensitivity syndrome

• Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

• Congenital bilateral absence of the vas deferens

• Congenital erythropoietic porphyria

• Congenital nephrotic syndrome Finnish type

• Congenital thrombotic thrombocytopenic purpura

• Cranioectodermal dysplasia

• CREST syndrome

• Crome syndrome

• Cystinosis

• Cystinuria

• Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia

• Dense deposit disease

• Dentatorubral-pallidoluysian atrophy

• Denys-Drash syndrome

• Dermatomyositis

• Diabetes insipidus nephrogenic mental retardation and intracerebral calcification

• Diethylstilbestrol syndrome

• Diffuse cutaneous systemic sclerosis

• Dihydroxyadeninuria

• Diphallia

• Duplication of urethra

• Dyschondrosteosis nephritis

• EEC syndrome

• Ellis-Van Creveld syndrome

• Eosinophilic granulomatosis with polyangiitis

• Erythropoietic protoporphyria

• Erythropoietic uroporphyria associated with myeloid malignancy

• Exstrophy of the bladder

• Fabry disease

• Faciocardiorenal syndrome

• Familial caudal dysgenesis

• Familial hyperthyroidism due to mutations in TSH receptor

• Familial LCAT deficiency

• Familial Mediterranean fever

• Familial prostate cancer

• Fanconi anemia

• Fanconi Bickel syndrome

• Fanconi syndrome

• Feigenbaum Bergeron Richardson syndrome

• Fibrillary glomerulonephritis

• Fibromuscular dysplasia - Not a rare disease

• Fish-eye disease

• Fitzsimmons Walson Mellor syndrome

• Focal segmental glomerulosclerosis

• Fowler's syndrome

• Fraser syndrome

• Frasier syndrome

• Galactokinase deficiency

• Galloway-Mowat syndrome

• Genito palato cardiac syndrome

• Giant cell arteritis

• Gitelman syndrome

• Glomerulonephritis

• Glomerulopathy with fibronectin deposits 1

• Glomerulopathy with fibronectin deposits 2

• Glucocorticoid-remediable aldosteronism

• Glycogen storage disease type 1A

• Glycogen storage disease type 1B

• Goodpasture syndrome

• Graham Boyle Troxell syndrome

• Granulomatosis with polyangiitis

• Hartnup disease

• Henoch-Schonlein purpura

• Hepatoerythropoietic porphyria

• Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome

• Hereditary coproporphyria

• Hereditary endotheliopathy, retinopathy, nephropathy, and stroke

• Hereditary fructose intolerance

• Hereditary leiomyomatosis and renal cell cancer

• Hereditary paraganglioma-pheochromocytoma

• Hyperparathyroidism-jaw tumor syndrome

• Hypocomplementemic urticarial vasculitis

• Hypophosphatemic rickets

• Hypospadias familial

• Hypospadias-intellectual disability, Goldblatt type syndrome

• Hypotelorism cleft palate hypospadias

• Hypotrichosis-lymphedema-telangiectasia syndrome

• Ichthyosis, mental retardation, dwarfism and renal impairment

• IgA nephropathy

• IMAGe syndrome

• Imerslund-Grasbeck syndrome

• Immunotactoid glomerulopathy

• Infundibulopelvic dysgenesis

• Interstitial cystitis - Not a rare disease

• Ivemark syndrome

• Jeune syndrome

• Joubert syndrome with oculorenal anomalies

• Juberg Marsidi syndrome

• Juvenile dermatomyositis

• Juvenile polymyositis

• Kawasaki disease

• Lesch Nyhan syndrome

• Liddle syndrome

• Limited cutaneous systemic sclerosis

• Limited systemic sclerosis

• Lowe oculocerebrorenal syndrome

• Lupus nephritis

• Male pseudohermaphroditism intellectual disability syndrome, Verloes type

• Maturity-onset diabetes of the young, type 5 - See Maturity-onset diabetes of the young

• Meacham Winn Culler syndrome

• Meckel syndrome

• Megacystis microcolon intestinal hypoperistalsis syndrome

• Membranous nephropathy

• Methylcobalamin deficiency cbl G type

• Methylmalonic acidemia

• Methylmalonic aciduria, cblA type - See Adenosylcobalamin deficiency

• Methylmalonic aciduria, cblB type - See Adenosylcobalamin deficiency

• Microscopic polyangiitis

• Minimal change disease

• Mixed connective tissue disease

• Muckle-Wells syndrome

• Multicentric carpotarsal osteolysis syndrome

• Multicystic renal dysplasia, bilateral

• Multisystemic smooth muscle dysfunction syndrome

• MURCS association

• Musculocontractural Ehlers-Danlos syndrome

• Naguib-Richieri-Costa syndrome

• Nail-patella syndrome

• Nephrocalcinosis

• Nephrogenic diabetes insipidus

• Nephronophthisis

• Neurofaciodigitorenal syndrome

• Noonan syndrome

• Noonan syndrome 1 - See Noonan syndrome

• Noonan syndrome 2 - See Noonan syndrome

• Noonan syndrome 3 - See Noonan syndrome

• Noonan syndrome 4 - See Noonan syndrome

• Noonan syndrome 5 - See Noonan syndrome

• Noonan syndrome 6 - See Noonan syndrome

• Ochoa syndrome

• Oculo skeletal renal syndrome

• Oligomeganephronic renal hypoplasia

• Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex

• Orofaciodigital syndrome 1

• Osteopetrosis autosomal recessive 3

• PAGOD syndrome

• Pallister-Hall syndrome

• Papillary renal cell carcinoma

• Partial androgen insensitivity syndrome

• Perlman syndrome

• Perrault syndrome

• Persistent Mullerian duct syndrome

• Pheochromocytoma

• Pierson syndrome

• Polycystic kidney disease - Not a rare disease

• Polycystic kidneys, severe infantile with tuberous sclerosis

• Polyomavirus allograft nephropathy

• Porphyria cutanea tarda

• Postorgasmic illness syndrome

• Preaxial deficiency, postaxial polydactyly and hypospadias

• Primary hyperoxaluria type 1

• Primary hyperoxaluria type 2

• Primary hypomagnesemia with secondary hypocalcemia

• Proud syndrome

• Prune belly syndrome

• Pseudohypoaldosteronism type 2

• Pseudohypoparathyroidism type 1A

• Pseudohypoparathyroidism type 1B

• Pseudohypoparathyroidism type 1C

• Pseudohypoparathyroidism type 2

• Pseudopseudohypoparathyroidism

• Pseudoxanthoma elasticum

• Relapsing polychondritis

• Renal agenesis

• Renal coloboma syndrome

• Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia

• Renal dysplasia-limb defects syndrome

• Renal glycosuria

• Renal hypomagnesemia 2

• Renal hypomagnesemia-6

• Renal hypouricemia

• Renal medullary carcinoma

• Renal nutcracker syndrome

• Renal tubular acidosis with deafness

• Renal tubular dysgenesis

• Renal tubulopathy, diabetes mellitus, and cerebellar ataxia due to duplication of mitochondrial DNA

• Retinal vasculopathy with cerebral leukodystrophy

• Retroperitoneal fibrosis

• Reynolds syndrome

• RHYNS syndrome

• Saito Kuba Tsuruta syndrome

• Salcedo syndrome

• Sarcoidosis - Not a rare disease

• Schimke immunoosseous dysplasia

• Schinzel Giedion syndrome

• Senior Loken Syndrome

• SERKAL syndrome

• SeSAME syndrome

• Sickle beta thalassemia

• Sickle cell anemia

• Simpson-Golabi-Behmel syndrome

• Sirenomelia

• SLC35A1-CDG (CDG-IIf)

• Small cell carcinoma of the bladder

• Smith-Lemli-Opitz syndrome

• Split hand urinary anomalies spina bifida

• Spondyloepiphyseal dysplasia tarda X-linked

• Steinfeld syndrome

• Sudden infant death with dysgenesis of the testes syndrome

• Susac syndrome

• Swyer syndrome

• Takayasu arteritis

• Testicular seminoma

• Thin basement membrane nephropathy - Not a rare disease

• Thymic-Renal-Anal-Lung dysplasia

• Torticollis keloids cryptorchidism renal dysplasia

• Townes-Brocks syndrome

• Trisomy 13

• Trisomy 18

• Tuberous sclerosis complex

• Tubulointerstitial nephritis and uveitis

• Tyrosinemia type 1

• VACTERL association

• Variegate porphyria

• Von Hippel-Lindau disease

• WAGR syndrome

• Williams syndrome

• Wilms' tumor

• Wilson disease

• X-linked hypophosphatemia

• X-linked lissencephaly with abnormal genitalia

• Xanthinuria type 1

• Xanthinuria type 2

• Zellweger syndrome

NIH genetic and rare disease info

• NIH info on Kidney and urinary diseases

Kidney and urinary diseases is a rare disease.