domingo, 27 de enero de 2019

Kidney and Urinary Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Kidney and Urinary Diseases | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

National Center for Advancing and Translational Sciences

Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

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 
49,XXXXY syndrome 
5-alpha reductase deficiency 
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 
Alström syndrome 
Amelogenesis imperfecta nephrocalcinosis 
Amyopathic dermatomyositis 
Aniridia renal agenesis psychomotor retardation 
Aromatase deficiency 
Arthrogryposis renal dysfunction cholestasis syndrome 
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 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 syndrome 
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 
Dandy-Walker cyst with Renal-Hepatic-Pancreatic dysplasia 
Dense deposit disease 
Dentatorubral-pallidoluysian atrophy 
Denys-Drash syndrome 
Diabetes insipidus nephrogenic mental retardation and intracerebral calcification 
Diethylstilbestrol syndrome 
Diffuse cutaneous systemic sclerosis 
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 
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 
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 
Methylmalonic aciduria, cblB type 
Microscopic polyangiitis 
Minimal change disease 
Mixed connective tissue disease 
MUC1-related autosomal dominant tubulointerstitial kidney disease 
Muckle-Wells syndrome 
Multicentric carpotarsal osteolysis syndrome 
Multicentric osteolysis nephropathy 
Multicystic renal dysplasia, bilateral 
Multisystemic smooth muscle dysfunction syndrome 
MURCS association 
Musculocontractural Ehlers-Danlos syndrome 
Naguib-Richieri-Costa syndrome 
Nail-patella syndrome 
Nephrogenic diabetes insipidus 
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 
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 Fanconi syndrome 
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 
Pseudoxanthoma elasticum 
Relapsing polychondritis 
REN-related autosomal dominant tubulointerstitial kidney disease 
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 acidosis, distal, autosomal dominant 
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 
Sacral defect with anterior meningocele 
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 
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 
Tubulointerstitial nephritis and uveitis 
Tyrosinemia type 1 
UMOD-related autosomal dominant tubulointerstitial kidney disease 
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 

No hay comentarios:

Publicar un comentario