Kidney and Urinary Diseases | Page 1

292 diseases found in 3 pages

1 Diseases

11-beta-hydroxylase deficiency 17-alpha-hydroxylase deficiency 17-beta hydroxysteroid dehydrogenase 3 deficiency

2 Diseases

22q11.2 deletion syndrome

3 Diseases

3-beta-hydroxysteroid dehydrogenase deficiency

4 Diseases

46,XX testicular disorder of sex development 48,XXXY syndrome 48,XYYY 49, XXXXY syndrome

5 Diseases

5-alpha reductase deficiency

A Diseases

Aarskog syndrome Abruzzo-Erickson syndrome Acroosteolysis dominant type Acro-pectoro-renal field defect 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 Autosomal dominant polycystic kidney 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

B Diseases

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

C Diseases

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

D Diseases

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

E Diseases

EEC syndrome Ellis-Van Creveld syndrome Eosinophilic granulomatosis with polyangiitis Erythropoietic protoporphyria Erythropoietic uroporphyria associated with myeloid malignancy Exstrophy of the bladder

F Diseases

Fabry disease Faciocardiorenal syndrome Familial caudal dysgenesis Familial hyperthyroidism due to mutations in TSH receptor

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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