Disorder | Inheritance pattern | Gene and chromosomal location | OMIM number | Renal and urological anomalies | Extrarenal anomalies |
Branchio-oto-renal (BOR) syndrome | Autosomal dominant | EYA1 on 8q13.3 SIX5 on 19q13.32 | 113650, 610896 | Renal agenesis, hypoplasia, dysplasia | Branchial defects with lateral cervical fistulas or cysts, ear pits, hearing loss |
Cenani-Lenz syndrome | Autosomal recessive | LRP4 on 11p11.2 | 212780 | Renal agenesis, hypoplasia, dysplasia | Distal limb abnormalities (syndactyly or oligodactyly), facial dysmorphism |
CHARGE syndrome | Autosomal dominant | CHD7 on 8q12.2 | 214800 | Renal hypoplasia, solitary kidney, duplex kidneys, ureteropelvic junction obstruction, VUR | Coloboma of the retina or the iris, heart anomalies, choanal atresia, mental retardation, genital and ear anomalies |
Kallmann syndrome | Multiple genes, including KAL1, FGFR1, FGF8, CHD7, PROK2, PROKR2 | 308700 | Renal agenesis, renal dysplasia, hydronephrosis, VUR | Hypogonadotrophic hypogonadism, anosmia, or hyposmia | |
Pallister-Hall syndrome | Autosomal dominant | GLI3 on 7p14 | 146510 | Renal agenesis, renal hypodysplasia | Hypothalamic hamartoma, central and postaxial polydactyly, bifid epiglottis, imperforate anus |
Renal-coloboma syndrome (Papillorenal syndrome) | Autosomal dominant | PAX2 on 10q24 | 120330 | Renal hypodysplasia, VUR | Optic nerve coloboma |
Renal cysts and diabetes (RCAD) syndrome | Autosomal dominant | HNF1B on 17q12 | 137920 | Renal agenesis, renal cysts, renal dysplasia, multicystic kidney disease | Diabetes, hypomagnesemia, hyperuricemia, genital tract anomalies, autism |
Renal tubular dysgenesis | Autosomal recessive | ACE on 17q23.3 AGT on 1q42.2 AGTR1 on 3q24 REN on 1q32.1 | 267430 | Renal tubular dysgenesis with oligohydramnios or anhydramnios | Pulmonary hypoplasia, skull ossification defects, arterial hypotension |
Simpson-Golabi-Behmel syndrome | X-linked | GPC3 on Xq26 | 312870 | Renal cysts, renal dysplasia | Somatic overgrowth, increased risk of tumors, craniofacial and vertebral anomalies, cardiac defects, cryptorchidism |
Townes-Brocks syndrome (anus-hand-ear syndrome) | Autosomal dominant | SALL1 on 16q12.1 | 107480 | Renal hypodysplasia, MCDK, VUR, posterior urethral valves | Imperforate anus, preaxial polydactyly and triphalangeal thumbs, external ear anomalies, SNHL |
Fraser syndrome | Autosomal recessive | FRAS1 FREM2 GRIP1 | 219000 | Renal agenesis, renal cystic dysplasia | Cryptophthalmos, cutaneous syndactyly, genital malformations |
Bifid nose, renal agenesis, and anorectal malformations (BNAR) syndrome | Autosomal recessive | FREM2 on 9p22.2-p23 | 608980 | Unilateral or bilateral renal agenesis | Bifid nose, anorectal malformations |
Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR; also known as Barakat syndrome) | Autosomal dominant | GATA3 on 10p14 | 146255 | Renal dysplasia | Hypoparathyroidism, SNHL |
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