Single gene disorders affecting the kidney

Diseases affecting glomeruli

Cysts and tumours

Tubular function

Predisposing disorders

Systemic metabolic conditions

Diseases affecting glomeruli

Disease, OMIM #

 Gene, chr

 Inher

Other information
Alport syndrome #301050 COL4A5, X

XLr
 Basement membrane collagen
  COL4A3/4, 2

Ar,(Ad)
 Basement membrane collagen
Fechtner syndrome #153640 MYH9, 22

Ad
 Non-muscle myosin heavy chain 9. 'Alport' like renal failure and deafness with platelet abnormalities and granulocyte inclusions
Thin basement membrane disease COL4A4, 2

Ad
 Basement membrane collagen
  other?   Gene not identified
Nail patella syndrome #161200 LMX1B, 9

Ad
 Transcription factor
Familial FSGS #603278 ACTN4, 19

Ad
 alpha-actinin 4 (in podocyte)
Steroid-resistant nephrotic syndrome #600995 NPHS2, 1

Ar
 Also causes FSGS; podocin
Finnish congenital nephrotic syndrome #256300 NPHN, 19

Ar
 Nephrin (in podocyte, attached to slit diaphragm)

 

A separate page lists diseases that may be confused with Alport Syndrome

Link to OMIM (Online Mendelian Inheritance in Man) for further information on individual diseases

 

Diseases causing cysts and tumours

Disease, OMIM #

 Gene, chr

 Inher

Other information
Polycystic kidney disease of adults (APKD) #173900 PKD1, 16

Ad
 Polycystin 1. Classic PKD.
 *173910
 PKD2, 4

Ad
 Polycystin 2. Forms regulated cation channel with polycystin 1. Milder phenotype
 600666
 PKD3, ?

Ad
 Gene not identified
Infantile polycystic kidney disease (IPKD, ARPKD) *263200 PKHD1, 6

Ar
 With hepatic disease; gene not identified
Tuberous sclerosis #191100 TSC1, 9

Ad
 Hamartin
 #191100
 TSC2, 16

Ad
 Tuberin; TSC2 is adjacent to PKD1 (for an overlap syndrome see #600273)
von Hippel Lindau *193300 VHL, 3

Ad
 Tumour suppressor
Juvenile nephronophthisis (medullary cystic disease) *256100 NPHP1, 2

Ar
 Nephrocystin (function unknown)
Juvenile nephronophthisis *602087 NPHP2, 9

Ad
 Gene not identified
Nephronophthisis, adolescent onset *604387 NPHP3, 3

Ad
 Gene not identified
Orofacial digital syndrome *311200 OFD1, X

Xd
 (gene previously named Cxorf5) Function of OFD1 protein not known. Lethal to males.

Show me a picture of kidney cysts

A separate page lists diseases that may be confused with PCKD

Link to OMIM (Online Mendelian Inheritance in Man)

 

Diseases affecting tubular function

Disease, OMIM #

 Gene, chr

 Inher

Other information
Bartter syndrome #241200 (600839) NKCC2, 15 (SLC12A1)

Ar
 Na-K-2Cl transporter, TAL
 600359
 ROMK, 11 (KCNJ1)

Ar
 TAL
 *602522
 CLCNKB, 1

Ar
 TAL
Gitelman syndrome #263800 (600968) SLC12A3, 16

Ar
 Thiazide-sensitive Na-Cl cotransporter in the DCT
Distal (type 1) renal tubular acidosis AE1, 17 (SLC4A1)

Ad
 Band 3 anion exchanger (AE1 also involved in spherocytosis, etc)
  ATP6B1, 2

Ar
 Proton pump of alpha intercalated cell, CCD. With deafness.
  ATP6N1B, 7

Ar
 Proton pump of alpha intercalated cell, CCD (kidney-specific isoform)
Hereditary hypophosphataemic rickets PHEX, X

XLd
 Classic, or type I VDRR (vit D resistant rickets). PHEX resembles an endopeptidase
. ??, 12

Ad
 Gene not identified
Vitamin D resistant rickets II VDR, 12

Ar
 Vit D receptor mutations
Nephrogenic diabetes insipidus AVPR2, X

XLr
 V2 AVP (ADH) receptor
  AQP2, 12

Ar, Ad
 ADH-sensitive water channel
Dent's disease CLCN5, X

XLr
 HypoP rickets, nephrolithiasis, etc
Cystinuria SCL3A1, 2

Ar
 Cystine and dibasic aa transporter
  SCL7A9, 19

Ar?
 AA transporter
Liddle's syndrome (pseudohyperaldosteronism) SCNN1B, 16, SCNN1G, 16

Ad
 Activating mut. amil.-sens. epithelial Na channel in CD principal cells
Pseudohypoaldosteronism SCNN1A, 12 SCNN1B, 16

Ar
 Inactivating mut. amil.-sens. epithelial Na channel in CD principal cells
. MLR, 4

Ad
 Mineralocorticoid receptor
Familial hypocalciuric hypercalcaemia CASR, 3

Ad
 Activating mut. Ca-sensing receptor, TAL, parathyroid
Familial hypocalcaemia CASR, 3

Ad
 Inactivating mut. Ca-sensing receptor, TAL, parathyroid
Primary hypomagnesaemia PCLN1, 3

Ar
 Paracellin 1 (claudin) : hypercalciuria, nephrolithiasis/ calcinosis

 

Link to OMIM (Online Mendelian Inheritance in Man)

 

Systemic disorders affecting the kidney: predisposing to secondary conditions

Disease, OMIM #

 Gene, chr

 Inher

Other information
C1q deficiency #120550, 120570, 120575 C1Q, 1

Ar
 Lupus nephritis (three genes encode C1Q chains)
Familial mediterranean fever *249100 MEFV, 16

Ar
 Amyloidosis (AA)
Factor H deficiency #235400 CFH, 1

Ad
 Predisposes to HUS
Familial TTP *274150 ?

...
 Deficiency of vWF cleaving protease, predisposes to TTP

Systemic disorders affecting the kidney: other disorders

Disease, OMIM #

 Gene, chr

 Inher

Other information
Fabry disease *301500 GLA

Xr
 alpha galactosidase A
Lowe syndrome *309000 OCRL1

Xr
 Lipid phosphatase
Zellweger syndrome PEX (various)

...
 Cerebrohepatorenal; components of peroxisome biogenesis
. .

...
 .

 

For further information on individual diseases, go to OMIM (Online Mendelian Inheritance in Man)

UpToDate (requires CD, or subscription), and other paper sources, may have information that is more integrated with differential diagnosis, etc.

 

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