Table 2.
Genetic syndromes that associate kidney conditions and ASD
| Kidney disorder group | Condition and genetics |
|---|---|
| Congenital anomalies of kidneys and urinary tract | Bardel–Biedl syndrome BBS |
| Brachio-oto-renal syndrome EYA1 | |
| CHARGE CHD7 | |
| Cornelia de Lange NIPBL | |
| Di George syndrome 22q11.2 | |
| Down syndrome Trisomy 21 | |
| FOXP1 syndrome FOXP1 | |
| Fragile X FMR1 | |
| Fraser syndrome GRIP1 | |
| Gabriele-de-Vries syndrome YY1 | |
| HDR syndrome GATA3 | |
| Jacobsen syndrome ETS1 | |
| Kleefstra syndrome EHMT1 | |
| Phelan-McDermid syndrome 22q13.3 including SHANK3 | |
| Rubinstein Taybi syndrome CREBBP | |
| Smith Lemi-Opitz DHCR7 | |
| Smith Magenis syndrome RAI1 | |
| Sotos syndrome NSD1 | |
| Williams syndrome 7q11.23 | |
| Wolf-Hirshhorn syndrome 4p- | |
| Tubular disease | Familial hyperkalemic hypertension CUL3 WNK kinases implicated in ASD |
| Pseudohypoaldosteronism, type 1 SLC12A | |
| Renal tubular acidosis CA2 | |
| Hyperaldosteronism CACNA1D | |
| Lowe syndrome OCRL | |
| Cystic disease | RCAD (HNF1beta nephropathy (HNF1B) (if17q12 deletion encompassing HNF1b) |
| Tuberous sclerosis complex TSC1, TSC2 | |
| Nephronophthisis NPHP1, NPHP6 | |
| Orofaciodigital syndrome OFD1 | |
| Cancer | PTEN hamartoma tumour syndrome PTEN |
| WAGR PRRG4 | |
| Other | Rett syndrome MECP2 |
| Wilson’s disease ATP7B | |
| Neurofibromatosis NF1 |