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Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


Kidney and Urinary Diseases

* This symbol indicates that a condition is not rare but is one for which a question has been answered by the GARD Information Center.

Is Rare Condition? Disease Name
* 11-beta-hydroxylase deficiency
* 17-alpha-hydroxylase deficiency
* 17-beta hydroxysteroid dehydrogenase 3 deficiency
* 22q11.2 deletion syndrome
* 46,XX testicular disorder of sex development
* Aarskog syndrome
* Abderhalden Kaufmann Lignac 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
* Allain-Babin-Demarquez syndrome
* Alpha 1-antitrypsin deficiency
* Alpha-thalassemia x-linked intellectual disability syndrome
* Alport syndrome
* Amelogenesis imperfecta nephrocalcinosis
* Aniridia renal agenesis psychomotor retardation
* AREDYLD
*   Autosomal dominant polycystic kidney disease
* Autosomal dominant pseudohypoaldosteronism type 1
* Autosomal recessive Alport syndrome
* Autosomal recessive polycystic kidney disease
* Autosomal recessive pseudohypoaldosteronism type 1
* Barakat syndrome
* Bardet-Biedl syndrome
* Bartter syndrome type 3
* Bartter syndrome type 4
* Behcet's disease
* Berger disease
* Bifid nose with or without anorectal and renal anomalies
* Birt-Hogg-Dube syndrome
* BK-virus nephropathy
* Blue diaper syndrome
* Branchiootorenal syndrome
* Buerger disease
* Campomelic dysplasia
* Cat Eye syndrome
* Caudal regression syndrome
* CHARGE syndrome
* Complete androgen insensitivity syndrome
* Congenital bilateral absence of the vas deferens
* Congenital nephrotic syndrome Finnish type
* Congenital porphyria
* Cranioectodermal dysplasia
* Crome syndrome
* Cystinosis
* Dense deposit disease
* Dentatorubral-pallidoluysian atrophy
* Denys-Drash syndrome
* Dermatomyositis
* Diabetes insipidus nephrogenic mental retardation and intracerebral calcification
* Diphallia
* Duplication of urethra
* Dyschondrosteosis nephritis
* Erythropoietic protoporphyria
* Exstrophy of the bladder
* Fabry disease
* Faciocardiorenal syndrome
* Familial juvenile hyperuricaemic nephropathy
* Familial Mediterranean fever
* Fanconi anemia
* Fanconi Bickel syndrome
* Fanconi renotubular syndrome
* Feigenbaum Bergeron Richardson syndrome
*   Fibromuscular dysplasia
* Fish-eye disease
* Fitzsimmons Walson Mellor syndrome
* Fraser syndrome
* Frasier syndrome
* Galactokinase deficiency
* Gitelman syndrome
* Glomerulonephritis
* Glomerulopathy with fibronectin deposits 1
* Glomerulopathy with fibronectin deposits 2
* Glucocorticoid-remediable aldosteronism
* Glycogen storage disease type 1B
* Gonadal dysgenesis, XX type
* Goodpasture syndrome
* Granulomatosis with polyangiitis (Wegener's)
* Hajdu-Cheney syndrome
* 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
* Hyperparathyroidism-jaw tumor syndrome
* Hypomagnesemia 2, renal
* Hypophosphatemic rickets
* Hypospadias familial
* Hypospadias mental retardation Goldblatt type
* Hypotelorism cleft palate hypospadias
* Ichthyosis, mental retardation, dwarfism and renal impairment
* Imerslund-Grasbeck syndrome
* Infundibulopelvic dysgenesis
*   Interstitial cystitis
* Ivemark syndrome
* Jeune syndrome
* Joubert syndrome with oculorenal anomalies
* Juberg Marsidi syndrome
* Juvenile dermatomyositis
* Kawasaki syndrome
* Lesch Nyhan syndrome
* Liddle syndrome
* Limited scleroderma
* Lowe oculocerebrorenal syndrome
* Lupus nephritis
* Male pseudohermaphroditism intellectual disability syndrome, Verloes type
* Maturity-onset diabetes of the young, type 5
* Meacham Winn Culler syndrome
* Meckel syndrome
* Medullary cystic kidney disease
* Medullary cystic kidney disease 1
* Medullary cystic kidney disease 2
* Megacystis microcolon intestinal hypoperistalsis syndrome
* Methylcobalamin deficiency cbl G type
* Methylmalonic acidemia
* Microcephaly, hiatal hernia and nephrotic syndrome
* Microscopic polyangiitis
* Mixed connective tissue disease
* Muckle-Wells syndrome
* Multicentric osteolysis nephropathy
* Multicystic renal dysplasia, bilateral
* Naguib-Richieri-Costa syndrome
* Nail patella syndrome
* Nephrocalcinosis
* Nephrogenic diabetes insipidus
* Nephronophthisis 1
* Neurofaciodigitorenal syndrome
* Noonan syndrome
* Noonan syndrome 1
* Ochoa syndrome
* Oculo skeletal renal syndrome
* Oligomeganephronic renal hypoplasia
* Orofaciodigital syndrome 1
* Osteopetrosis autosomal recessive 3
* PAGOD syndrome
* Pallister-Hall syndrome
* Papillary renal cell carcinoma
* Persistent Mullerian duct syndrome
* Pierson syndrome
*   Polycystic kidney disease
*   Polycystic kidney disease, type 1
*   Polycystic kidney disease, type 2
*   Polycystic kidney disease, type 3
* Polycystic kidneys, severe infantile with tuberous sclerosis
* Polyomavirus allograft nephropathy
* Porphyria cutanea tarda
* Post orgasmic illness syndrome
* Potter syndrome type 1
* Potter syndrome type 2
* Potter syndrome type 3
* Potter syndrome type 4
* Preaxial deficiency, postaxial polydactyly and hypospadias
* Primary hyperoxaluria type 1
* Primary hyperoxaluria type 2
* Proud Levine Carpenter syndrome
* Pseudohypoparathyroidism type 1A
* Pseudohypoparathyroidism type 1B
* Pseudohypoparathyroidism type 1C
* Pseudohypoparathyroidism type 2
* Pseudopseudohypoparathyroidism
* Pseudoxanthoma elasticum
* Relapsing polychondritis
* Renal coloboma syndrome
* Renal dysplasia megalocystis sirenomelia
* Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
* Renal dysplasia-limb defects syndrome
* Renal glycosuria
* Renal hypouricemia
* Renal tubular dysgenesis
* Retroperitoneal fibrosis
* Reynolds syndrome
* RHYNS syndrome
* Saito Kuba Tsuruta syndrome
* Salcedo syndrome
*   Sarcoidosis
* Senior Loken Syndrome
* SeSAME syndrome
* Sharp syndrome
* Sickle cell anemia
* Simpson-Golabi-Behmel syndrome
* Smith-Lemli-Opitz syndrome type 1
* Split hand urinary anomalies spina bifida
* Spondyloepiphyseal dysplasia tarda X-linked
* Steinfeld syndrome
* Susac syndrome
* Swyer syndrome
* Takayasu arteritis
*   Thin basement membrane nephropathy
* Thrombotic thrombocytopenic purpura, congenital
* Thymic-Renal-Anal-Lung dysplasia
* Torticollis keloids cryptorchidism renal dysplasia
* Trisomy 13
* Trisomy 18
* Tuberous sclerosis
* Tubulointerstitial nephritis and uveitis
* Tyrosinemia type 1
* Urogenital adysplasia, hereditary
* VACTERL association
* Variegate porphyria
* Von Hippel-Lindau disease
* Williams syndrome
* Wilson disease
* Xanthinuria type 2
* Zellweger syndrome