RGDs registry under the 'Nephrological disorders'
| S.No. | Genetic Disorders | Aliases | Sub-Category | Gene symbol | Links | Indian context |
| 1 | Autosomal recessive polycystic kidney disease |
•AR polycystic kidney disease •Polycystic kidney disease, infantile type •AR-PKD |
Cystic renal diseases |
PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin PKD2 polycystin 2, transient receptor potential cation channel PKD1 polycystin 1, transient receptor potential channel interacting CYS1 cystin 1 |
PubMed | Reports |
| 2 | Interstitial cystitis |
•Painful bladder syndrome •Bladder pain syndrome •Chronic interstitial cystitis |
Cystitis |
TP53 tumor protein p53 |
PubMed | Reports |
| 3 | Finnish congenital nephrotic syndrome |
•Congenital nephrotic syndrome •Finnish congenital nephrosis •Congenital nephrotic syndrome, Finnish type |
Nephrotic syndrome |
NPHS1 NPHS1 adhesion molecule, nephrin FAT1 FAT atypical cadherin 1 |
PubMed | Reports |
| 4 | Pseudohypoaldosteronism type 1 |
•Generalized pseudohypoaldosteronism type 1 |
Renal tubule disorders |
SCNN1A sodium channel epithelial 1 subunit alpha SCNN1B sodium channel epithelial 1 subunit beta SCNN1G sodium channel epithelial 1 subunit gamma NR3C2 nuclear receptor subfamily 3 group C member 2 CUL3 cullin 3 KLHL3 kelch like family member 3 |
PubMed | Reports |
| 5 | Pseudohypoaldosteronism type 2 | Renal tubule disorders |
WNK1 WNK lysine deficient protein kinase 1 WNK4 WNK lysine deficient protein kinase 4 CUL3 cullin 3 KLHL3 kelch like family member 3 |
PubMed | Reports | |
| 6 | CFH-Related dense deposit disease |
•Dense deposit disease |
Glomerular disorders |
CFHR5 complement factor H related 5 CFH complement factor H |
PubMed | Reports |
| 7 | Familial juvenile hyperuricemic nephropathy type 1 | Cystic renal diseases |
UMOD uromodulin |
PubMed | Reports | |
| 8 | Multicystic dysplastic kidneys | Renal cyst |
HNF1B HNF1 homeobox B PAX2 paired box 2 |
PubMed | Reports | |
| 9 | Spina Bifida-Hypospadias syndrome |
•Spina bifida hypospadias |
Urogenital tract malformation |
VANGL1 VANGL planar cell polarity protein 1 VANGL2 VANGL planar cell polarity protein 2 FUZ fuzzy planar cell polarity protein CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 |
PubMed | Reports |
| 10 | Nephronophthisis | Cystic renal diseases |
XPNPEP3 X-prolyl aminopeptidase 3 TMEM67 transmembrane protein 67 NEK8 NIMA related kinase 8 NPHP3 nephrocystin 3 NPHP4 nephrocystin 4 NPHP1 nephrocystin 1 WDR19 WD repeat domain 19 TTC21B tetratricopeptide repeat domain 21B CEP164 centrosomal protein 164 ANKS6 ankyrin repeat and sterile alpha motif domain containing 6 GLIS2 GLIS family zinc finger 2 CEP83 centrosomal protein 83 DCDC2 doublecortin domain containing 2 RPGRIP1L RPGRIP1 like IQCB1 IQ motif containing B1 INVS inversin MAPKBP1 mitogen-activated protein kinase binding protein 1 RBM48 RNA binding motif protein 48 INCENP inner centromere protein FAM186B family with sequence similarity 186 member B PIAS1 protein inhibitor of activated STAT 1 CEP290 centrosomal protein 290 ZNF423 zinc finger protein 423 AHI1 Abelson helper integration site 1 RMND1 required for meiotic nuclear division 1 homolog MKKS MKKS centrosomal shuttling protein SLC41A1 solute carrier family 41 member 1 ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif 9 |
PubMed | Reports | |
| 11 | Galloway-Mowat syndrome |
•Galloway syndrome •Microcephaly-hiatus hernia-nephrotic syndrome |
Nephrotic syndrome |
WDR73 WD repeat domain 73 WDR4 WD repeat domain 4 LAGE3 L antigen family member 3 TP53RK TP53 regulating kinase TPRKB TP53RK binding protein OSGEP O-sialoglycoprotein endopeptidase NUP133 nucleoporin 133 NUP107 nucleoporin 107 GON7 GON7 subunit of KEOPS complex YRDC yrdC N6-threonylcarbamoyltransferase domain containing |
PubMed | Reports |
| 12 | Prune belly syndrome |
•Abdominal muscle deficiency syndrome •Eagle-Barret syndrome •Prune belly |
Urogenital tract malformation |
CHRM3 cholinergic receptor muscarinic 3 MYOCD myocardin FLNA filamin A |
PubMed | Reports |
| 13 | Pierson syndrome |
•Microcoria-congenital nephrosis syndrome |
Glomerular disorders |
LAMB2 laminin subunit beta 2 |
PubMed | Reports |
| 14 | Familial amyloid nephropathy with urticaria and deafness |
•Muckle-Wells syndrome •Neutrophilic urticaria •Urticaria, deafness and amyloidosis •UDA syndrome |
NLRP3 NLR family pyrin domain containing 3 |
PubMed | Reports | |
| 15 | Karyomegalic interstitial nephritis |
•Systemic karyomegaly •KIN |
Cystic renal diseases |
FAN1 FANCD2 and FANCI associated nuclease 1 |
PubMed | Reports |
| 16 | Alport syndrome |
•Alport hearing loss-nephropathy •Congenital hereditary hematuria •Hemorrhagic familial nephritis •Hemorrhagic hereditary nephritis •Alport deafness-nephropathy |
Glomerular disorders |
COL4A5 collagen type IV alpha 5 chain COL4A4 collagen type IV alpha 4 chain COL4A3 collagen type IV alpha 3 chain |
PubMed | Reports |
| 17 | Autosomal dominant polycystic kidney disease |
•ADPKD |
Cystic renal diseases |
PKD2 polycystin 2, transient receptor potential cation channel PKD1 polycystin 1, transient receptor potential channel interacting GANAB glucosidase II alpha subunit DNAJB11 DnaJ heat shock protein family (Hsp40) member B11 |
PubMed | Reports |
| 18 | Bartter syndrome |
•Potassium wasting •Bartter's syndrome •Renal tubular normotensive hypokalemic alkalosis with hypercalciuria •Salt-losing tubular disorder, Henle's loop type •Salt-wasting tubulopathy, Henle's loop |
Renal tubule disorders |
CLCNKB chloride voltage-gated channel Kb CASR calcium sensing receptor SLC12A3 solute carrier family 12 member 3 KCNJ1 potassium inwardly rectifying channel subfamily J member 1 SLC12A1 solute carrier family 12 member 1 |
PubMed | Reports |
| 19 | Bartter disease type 2 |
•Hyperprostaglandin E syndrome 2 •Bartter syndrome, type 2, antenatal •Hypokalemic alkalosis with hypercalciuria 2, antenatal |
Renal tubule disorders |
KCNJ1 potassium inwardly rectifying channel subfamily J member 1 |
PubMed | Reports |
| 20 | Bartter disease type 5 |
•Bartter syndrome, type 5, antenatal, transient |
Renal tubule disorders |
MAGED2 MAGE family member D2 |
PubMed | Reports |
| 21 | Familial hypokalemia-hypomagnesemia |
•Gitelman Syndrome •Potassium and magnesium depletion •Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria |
Renal tubule disorders |
SLC12A3 solute carrier family 12 member 3 MMP2-AS1 MMP2 antisense RNA 1 |
PubMed | Reports |
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