Table 1 The 92 most common individual diagnoses, covering 95% of the registry cohort. Codes marked with an asterisk are internal codes for entities currently not represented in OrphaNet

CAKUT (OC 93545)

1781

23.4

93110

Posterior urethral valve

258

3.3

93173

Renal dysplasia, bilateral

227

2.9

9999969*

Vesicoureteric reflux, high-grade

216

2.8

2190

Congenital hydronephrosis

159

2.1

93100

Renal agenesis, unilateral

130

1.7

97363

Unilateral multicystic dysplastic kidney

121

1.6

97362

Renal hypoplasia, bilateral

103

1.4

93172

Renal dysplasia, unilateral

84

1.1

97361

Renal hypoplasia, unilateral

76

1.0

97364

Bilateral multicystic dysplastic kidney

60

0.8

9999968*

Neurogenic bladder, congenital or acquired

58

0.8

289365

Vesicoureteric reflux, familial

36

0.5

93111

RCAD (Renal cysts and diabetes) syndrome

34

0.4

9999985*

Ureteropelvic junction obstruction (bilateral or in solitary kidney)

30

0.4

887

VACTERL/VATER association

19

0.2

238646

Congenital primary megaureter, obstructed form

19

0.2

238650

Congenital primary megaureter, refluxing form

18

0.2

238654

Congenital primary megaureter, nonrefluxing and unobstructed form

14

0.2

2970

Prune belly syndrome

14

0.2

238637

Megacystis-megaureter syndrome

10

0.1

567

Di George syndrome (22q11.2 deletion)

10

0.1

107

BOR (branchio-oto-renal) syndrome

7

0.09

9999986*

Congenital primary megaureter, refluxing and obstructed

7

0.09

2237

HDR (Hypoparathyroidism-deafness-renal disease) syndrome

7

0.09

Ciliopathies (OC 93587)

1406

18.4

730

Autosomal dominant polycystic kidney disease

945

12.4

731

Autosomal recessive polycystic kidney disease

150

2.0

805

Tuberous sclerosis complex

67

0.9

110

Bardet–Biedl syndrome

58

0.8

93592

Juvenile nephronophthisis

56

0.7

93591

Infantile nephronophthisis

32

0.4

93111

RCAD (Renal cysts and diabetes) syndrome

24

0.3

2318

Joubert syndrome with oculorenal defect

15

0.2

Glomerulopathies (OC 93548)

2816

37.0

69061

Idiopathic steroid-sensitive nephrotic syndrome

643

8.5

9999982*

IgA nephropathy

368

4.8

97560

Membranous nephropathy

346

4.6

88917

Alport syndrome, X-linked

219

2.9

567546

Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance

95

1.2

656

Genetic steroid-resistant nephrotic syndrome

92

1.2

567552

Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunouppressive therapy

90

1.2

536

SLE nephritis

78

1.0

329931

C3 glomerulonephritis

75

1.0

761

Immunoglobulin A vasculitis (Henoch Schönlein nephritis)

67

0.9

567550

Idiopathic multidrug-resistant nephrotic syndrome

56

0.7

93552

Pediatric systemic lupus erythematosus

49

0.7

567544

Idiopathic non-lupus full-house nephropathy

49

0.7

9999975*

Immune complex associated membranoproliferative glomerulonephritis, not otherwise specified

48

0.6

97563

Pauci-immune glomerulonephritis with ANCA

44

0.6

88918

Alport syndrome, autosomal dominant

43

0.6

97556

Congenital nephrotic syndrome, no genetic cause specified

37

0.5

839

Congenital nephrotic syndrome, Finnish type

36

0.5

88919

Alport syndrome, autosomal recessive

35

0.5

900

Granulomatosis with polyangiitis

34

0.5

329903

Immunoglobulin-mediated membranoproliferative glomerulonephritis

30

0.4

220

Denys–Drash syndrome

29

0.4

727

Microscopic polyangiitis

27

0.3

9999976*

Microscopic (including familial) hematuria

23

0.3

97564

Pauci-immune glomerulonephritis without ANCA

17

0.3

91138

Cryoglobulinemic vasculitis

17

0.2

85445

AA amyloidosis

14

0.2

93571

Dense deposit disease

14

0.2

9999972*

Nephrotic syndrome, syndromic, not otherwise specified

13

0.2

9999977*

Collagenopathy, not further specified

13

0.2

85443

AL amyloidosis

11

0.1

Tubulopathies (OC 93603)

681

8.9

402041

Autosomal recessive distal renal tubular acidosis

139

1.8

358

Gitelman syndrome

82

1.0

214

Cystinuria

81

1.0

112

Bartter syndrome

76

0.9

2197

Hypercalciuria, idiopathic

53

0.7

89936

X-linked hypophosphatemia

45

0.6

223

Nephrogenic diabetes insipidus

43

0.6

93608

Autosomal dominant distal renal tubular acidosis

34

0.4

3337

Fanconi syndrome, primary

19

0.2

91500

Tubulointerstitial nephritis and uveitis syndrome

16

0.2

31043

Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis

14

0.2

9999967*

Fanconi syndrome, induced by other drug

10

0.1

Thrombotic Microangiopathies (OC 93573)

321

4.2

90038

Shiga toxin-associated hemolytic uremic syndrome

167

2.2

544472

Atypical hemolytic uremic syndrome with complement gene abnormality

57

0.7

9999987*

Atypical hemolytic uremic syndrome, not further specified

48

0.6

93581

Atypical hemolytic uremic syndrome with anti-factor H antibodies

19

0.2

544493

Streptcoccous pneumoniae-associated hemolytic uremic syndrome

11

0.1

93585

Acquired thrombotic thrombocytopenic purpura

7

0.1

Metabolic Nephropathies (OC 93593)

302

3.9

411629

Infantile nephropathic cystinosis

84

1.1

93598

Primary hyperoxaluria type 1

53

0.7

324

Fabry disease

32

0.4

534

Lowe syndrome

24

0.3

93622

Dent disease type 1 (CLCN5-related)

22

0.3

300547

Autosomal recessive infantile hypercalcemia

18

0.2

27

Methylmalonic acidemia, Vitamin B12-unresponsive

18

0.2

411634

Juvenile nephropathic cystinosis

11

0.1

Rare Causes of Hypertension (OC 93618)

79

1.0

97598

Renal artery stenosis, congenital

41

0.5

904

Williams syndrome

19

0.2

636

Neurofibromatosis type 1

12

0.2