Genetic Diseases & Conditions - 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 vas deferens
Absent vasa see congenital bilateral absence of vas deferens
AKU see alkaptonuria
Alcaptonuria see alkaptonuria
alkaptonuria
Alkaptonuric ochronosis see alkaptonuria
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
Autosomal dominant Opitz G/BBB syndrome see 22q11.2 deletion syndrome
Benign paroxysmal peritonitis see familial Mediterranean fever
BHD see Birt-Hogg-Dubé syndrome
Birt-Hogg-Dubé syndrome
bladder cancer
Bourneville Disease see tuberous sclerosis
Bourneville Phakomatosis see tuberous sclerosis
Broad Thumb-Hallux Syndrome see Rubinstein-Taybi syndrome
Cancer of the bladder see bladder cancer
CATCH22 see 22q11.2 deletion syndrome
CAVD see congenital bilateral absence of vas deferens
Cayler cardiofacial syndrome see 22q11.2 deletion syndrome
CBAVD see congenital bilateral absence of vas deferens
Ceramide trihexosidase deficiency see Fabry disease
Cerebelloretinal Angiomatosis, Familial see von Hippel-Lindau syndrome
cerebral sclerosis see tuberous sclerosis
Choreoathetosis self-mutilation syndrome see Lesch-Nyhan syndrome
Classic Galactosaemia see galactosaemia
Complete HPRT deficiency see Lesch-Nyhan syndrome
Complete hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome
congenital bilateral absence of vas deferens
congenital hereditary hematuria see Alport syndrome
Conotruncal anomaly face syndrome (CTAF) see 22q11.2 deletion syndrome
CSNU - Cystinuria see cystinuria
Cystine diathesis see cystinosis
Cystine disease see cystinosis
Cystine storage disease see cystinosis
Cystinoses see cystinosis
cystinosis
cystinuria
D-glycerate dehydrogenase deficiency see primary hyperoxaluria
22q11.2 deletion syndrome
DiGeorge Syndrome see 22q11.2 deletion syndrome
Epiloia see tuberous sclerosis
Fabry disease
familial Mediterranean fever
Fibrofolliculomas with trichodiscomas and acrochordons see Birt-Hogg-Dubé syndrome
FMF see familial Mediterranean fever
Galactokinase Deficiency Disease see galactosaemia
Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease see galactosaemia
galactosaemia
GALT Deficiency see galactosaemia
GLA deficiency see Fabry disease
glyceric aciduria see primary hyperoxaluria
glycolic aciduria see primary hyperoxaluria
hematuria-nephropathy-deafness syndrome see Alport syndrome
hematuric hereditary nephritis see Alport syndrome
haemorrhagic familial nephritis see Alport syndrome
haemorrhagic hereditary nephritis see Alport syndrome
hepatic AGT deficiency see primary hyperoxaluria
Hereditary dystopic lipidosis see Fabry disease
hereditary familial congenital haemorrhagic 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
Hippel-Lindau Disease see von Hippel-Lindau syndrome
Homogentisic acid oxidase deficiency see alkaptonuria
Homogentisic acidura see alkaptonuria
Hornstein-Knickenberg syndrome see Birt-Hogg-Dubé syndrome
HP1 see primary hyperoxaluria
HP2 see primary hyperoxaluria
HPRT - Hypoxanthine-guanine phosphoribosyltransferase deficiency see Lesch-Nyhan syndrome
Hyperoxaluria, Primary see primary hyperoxaluria
hypoxanthine phosphoribosyltransferse (HPRT) deficiency see Lesch-Nyhan syndrome
Juvenile gout, choreoathetosis, mental retardation syndrome see Lesch-Nyhan syndrome
juvenile hyperuricemia syndrome see Lesch-Nyhan syndrome
Lesch-Nyhan syndrome
LNS see Lesch-Nyhan syndrome
Malignant tumour of urinary bladder see bladder cancer
Mediterranean Fever, Familial see familial Mediterranean fever
Ochronosis see alkaptonuria
Ochronotic arthritis see alkaptonuria
Oxalosis see primary hyperoxaluria
Oxaluria, Primary see primary hyperoxaluria
Periodic Disease see familial Mediterranean fever
Periodic peritonitis see familial Mediterranean fever
peroxisomal alanine:glyoxylate aminotransferase deficiency see primary hyperoxaluria
PKD see polycystic kidney disease
polycystic kidney disease
primary hyperoxaluria
primary hyperuricemia syndrome see Lesch-Nyhan syndrome
Recurrent polyserositis see familial Mediterranean fever
RSTS see Rubinstein-Taybi syndrome
RTS see Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome
sclerosis tuberosa see tuberous sclerosis
Sedlackova syndrome see 22q11.2 deletion syndrome
Shprintzen syndrome see 22q11.2 deletion syndrome
Total HPRT deficiency see Lesch-Nyhan syndrome
Total hypoxanthine-guanine phosphoribosyl transferase deficiency see Lesch-Nyhan syndrome
tuberose sclerosis see tuberous sclerosis
tuberous sclerosis
UDP-Galactose-4-Epimerase Deficiency Disease see galactosaemia
UDPglucose 4-Epimerase Deficiency Disease see galactosaemia
UDPglucose Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosaemia
Urinary bladder cancer see bladder cancer
UTP Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosaemia
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 Hippel-Lindau 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

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