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
| Orphacode | Diagnosis | N | % | Pediatric | Adult |
|---|---|---|---|---|---|
| CAKUT (OC 93545) | 1781 | 23.4 | 1719 | 62 | |
| 93110 | Posterior urethral valve | 258 | 3.3 | 254 | 4 |
| 93173 | Renal dysplasia, bilateral | 227 | 2.9 | 224 | 3 |
| 9999969* | Vesicoureteric reflux, high-grade | 216 | 2.8 | 197 | 19 |
| 2190 | Congenital hydronephrosis | 159 | 2.1 | 158 | 1 |
| 93100 | Renal agenesis, unilateral | 130 | 1.7 | 124 | 6 |
| 97363 | Unilateral multicystic dysplastic kidney | 121 | 1.6 | 121 | |
| 97362 | Renal hypoplasia, bilateral | 103 | 1.4 | 98 | 5 |
| 93172 | Renal dysplasia, unilateral | 84 | 1.1 | 85 | |
| 97361 | Renal hypoplasia, unilateral | 76 | 1.0 | 73 | 2 |
| 97364 | Bilateral multicystic dysplastic kidney | 60 | 0.8 | 59 | 1 |
| 9999968* | Neurogenic bladder, congenital or acquired | 58 | 0.8 | 57 | 1 |
| 289365 | Vesicoureteric reflux, familial | 36 | 0.5 | 30 | 6 |
| 93111 | RCAD (Renal cysts and diabetes) syndrome | 34 | 0.4 | 33 | 1 |
| 9999985* | Ureteropelvic junction obstruction (bilateral or in solitary kidney) | 30 | 0.4 | 29 | 1 |
| 887 | VACTERL/VATER association | 19 | 0.2 | 19 | |
| 238646 | Congenital primary megaureter, obstructed form | 19 | 0.2 | 19 | |
| 238650 | Congenital primary megaureter, refluxing form | 18 | 0.2 | 18 | |
| 238654 | Congenital primary megaureter, nonrefluxing and unobstructed form | 14 | 0.2 | 14 | |
| 2970 | Prune belly syndrome | 14 | 0.2 | 14 | |
| 238637 | Megacystis-megaureter syndrome | 10 | 0.1 | 9 | 1 |
| 567 | Di George syndrome (22q11.2 deletion) | 10 | 0.1 | 10 | |
| 107 | BOR (branchio-oto-renal) syndrome | 7 | 0.09 | 6 | 1 |
| 9999986* | Congenital primary megaureter, refluxing and obstructed | 7 | 0.09 | 6 | 1 |
| 2237 | HDR (Hypoparathyroidism-deafness-renal disease) syndrome | 7 | 0.09 | ||
| Ciliopathies (OC 93587) | 1406 | 18.4 | 684 | 722 | |
| 730 | Autosomal dominant polycystic kidney disease | 945 | 12.4 | 312 | 633 |
| 731 | Autosomal recessive polycystic kidney disease | 150 | 2.0 | 146 | 4 |
| 805 | Tuberous sclerosis complex | 67 | 0.9 | 40 | 27 |
| 110 | Bardet–Biedl syndrome | 58 | 0.8 | 22 | 36 |
| 93592 | Juvenile nephronophthisis | 56 | 0.7 | 55 | 1 |
| 93591 | Infantile nephronophthisis | 32 | 0.4 | 31 | 1 |
| 93111 | RCAD (Renal cysts and diabetes) syndrome | 24 | 0.3 | 18 | 6 |
| 2318 | Joubert syndrome with oculorenal defect | 15 | 0.2 | 15 | |
| Glomerulopathies (OC 93548) | 2816 | 37.0 | 1561 | 1255 | |
| 69061 | Idiopathic steroid-sensitive nephrotic syndrome | 643 | 8.5 | 540 | 130 |
| 9999982* | IgA nephropathy | 368 | 4.8 | 103 | 265 |
| 97560 | Membranous nephropathy | 346 | 4.6 | 25 | 321 |
| 88917 | Alport syndrome, X-linked | 219 | 2.9 | 159 | 60 |
| 567546 | Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance | 95 | 1.2 | 48 | 47 |
| 656 | Genetic steroid-resistant nephrotic syndrome | 92 | 1.2 | 86 | 6 |
| 567552 | Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunouppressive therapy | 90 | 1.2 | 76 | 14 |
| 536 | SLE nephritis | 78 | 1.0 | 11 | 67 |
| 329931 | C3 glomerulonephritis | 75 | 1.0 | 58 | 17 |
| 761 | Immunoglobulin A vasculitis (Henoch Schönlein nephritis) | 67 | 0.9 | 60 | 7 |
| 567550 | Idiopathic multidrug-resistant nephrotic syndrome | 56 | 0.7 | 35 | 21 |
| 93552 | Pediatric systemic lupus erythematosus | 49 | 0.7 | 49 | |
| 567544 | Idiopathic non-lupus full-house nephropathy | 49 | 0.7 | 15 | 34 |
| 9999975* | Immune complex associated membranoproliferative glomerulonephritis, not otherwise specified | 48 | 0.6 | 23 | 25 |
| 97563 | Pauci-immune glomerulonephritis with ANCA | 44 | 0.6 | 16 | 28 |
| 88918 | Alport syndrome, autosomal dominant | 43 | 0.6 | 16 | 27 |
| 97556 | Congenital nephrotic syndrome, no genetic cause specified | 37 | 0.5 | 35 | 2 |
| 839 | Congenital nephrotic syndrome, Finnish type | 36 | 0.5 | 36 | |
| 88919 | Alport syndrome, autosomal recessive | 35 | 0.5 | 23 | 12 |
| 900 | Granulomatosis with polyangiitis | 34 | 0.5 | 6 | 28 |
| 329903 | Immunoglobulin-mediated membranoproliferative glomerulonephritis | 30 | 0.4 | 8 | 22 |
| 220 | Denys–Drash syndrome | 29 | 0.4 | 29 | |
| 727 | Microscopic polyangiitis | 27 | 0.3 | 3 | 24 |
| 9999976* | Microscopic (including familial) hematuria | 23 | 0.3 | 16 | 7 |
| 97564 | Pauci-immune glomerulonephritis without ANCA | 17 | 0.3 | 5 | 12 |
| 91138 | Cryoglobulinemic vasculitis | 17 | 0.2 | 17 | |
| 85445 | AA amyloidosis | 14 | 0.2 | 14 | |
| 93571 | Dense deposit disease | 14 | 0.2 | 11 | 3 |
| 9999972* | Nephrotic syndrome, syndromic, not otherwise specified | 13 | 0.2 | 13 | |
| 9999977* | Collagenopathy, not further specified | 13 | 0.2 | 1 | 12 |
| 85443 | AL amyloidosis | 11 | 0.1 | 11 | |
| Tubulopathies (OC 93603) | 681 | 8.9 | 539 | 141 | |
| 402041 | Autosomal recessive distal renal tubular acidosis | 139 | 1.8 | 133 | 6 |
| 358 | Gitelman syndrome | 82 | 1.0 | 52 | 30 |
| 214 | Cystinuria | 81 | 1.0 | 31 | 50 |
| 112 | Bartter syndrome | 76 | 0.9 | 64 | 12 |
| 2197 | Hypercalciuria, idiopathic | 53 | 0.7 | 43 | 10 |
| 89936 | X-linked hypophosphatemia | 45 | 0.6 | 45 | |
| 223 | Nephrogenic diabetes insipidus | 43 | 0.6 | 36 | 7 |
| 93608 | Autosomal dominant distal renal tubular acidosis | 34 | 0.4 | 32 | 2 |
| 3337 | Fanconi syndrome, primary | 19 | 0.2 | 14 | 5 |
| 91500 | Tubulointerstitial nephritis and uveitis syndrome | 16 | 0.2 | 12 | 4 |
| 31043 | Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis | 14 | 0.2 | 13 | 1 |
| 9999967* | Fanconi syndrome, induced by other drug | 10 | 0.1 | 10 | |
| Thrombotic Microangiopathies (OC 93573) | 321 | 4.2 | 283 | 38 | |
| 90038 | Shiga toxin-associated hemolytic uremic syndrome | 167 | 2.2 | 165 | 2 |
| 544472 | Atypical hemolytic uremic syndrome with complement gene abnormality | 57 | 0.7 | 46 | 11 |
| 9999987* | Atypical hemolytic uremic syndrome, not further specified | 48 | 0.6 | 31 | 17 |
| 93581 | Atypical hemolytic uremic syndrome with anti-factor H antibodies | 19 | 0.2 | 18 | 1 |
| 544493 | Streptcoccous pneumoniae-associated hemolytic uremic syndrome | 11 | 0.1 | 11 | |
| 93585 | Acquired thrombotic thrombocytopenic purpura | 7 | 0.1 | 2 | 5 |
| Metabolic Nephropathies (OC 93593) | 302 | 3.9 | 233 | 69 | |
| 411629 | Infantile nephropathic cystinosis | 84 | 1.1 | 67 | 17 |
| 93598 | Primary hyperoxaluria type 1 | 53 | 0.7 | 50 | 3 |
| 324 | Fabry disease | 32 | 0.4 | 5 | 27 |
| 534 | Lowe syndrome | 24 | 0.3 | 23 | 1 |
| 93622 | Dent disease type 1 (CLCN5-related) | 22 | 0.3 | 17 | 5 |
| 300547 | Autosomal recessive infantile hypercalcemia | 18 | 0.2 | 16 | 2 |
| 27 | Methylmalonic acidemia, Vitamin B12-unresponsive | 18 | 0.2 | 16 | 2 |
| 411634 | Juvenile nephropathic cystinosis | 11 | 0.1 | 9 | 2 |
| Rare Causes of Hypertension (OC 93618) | 79 | 1.0 | 75 | 4 | |
| 97598 | Renal artery stenosis, congenital | 41 | 0.5 | 38 | |
| 904 | Williams syndrome | 19 | 0.2 | 19 | |
| 636 | Neurofibromatosis type 1 | 12 | 0.2 | 11 | 1 |
Percent values relate to total number of patients in registry (N = 7607)