ErkrankungNierenagenesie/Nieren(a)dysplasie, Differentialdiagnose

NGS +

[Sanger]

Form einer Nieren(trakt)fehlbildung mit vollständigem Fehlen von 1-2 Nieren, fehlende Harnleiter

ORPHA:1848 Nierenagenesie, bilateral

ORPHA:93100 Nierenagenesie, unilaterale

• Alias: Extreme form of CAKUT
• Alias: Renal agenesis, kidney hypoplasia
• Allelic: Anterior segment anomalies with/-out cataract (EYA1)
• Allelic: Bone marrow failure [panelapp] (EXOC3L2)
• Allelic: Branchiootic syndrome 1 (EYA1)
• Allelic: Central hypoventilation syndrome, congenital (RET)
• Allelic: Dandy-Walker malformation [panelapp] (EXOC3L2)
• Allelic: Deafness, AD 23 (SIX1)
• Allelic: Deafness, AD 80 (GREB1L)
• Allelic: Diabetes mellitus, noninsulin-dependent (HNF1B)
• Allelic: Glomerulosclerosis, focal segmental, 7 (PAX2)
• Allelic: Hirschsprung disease, protection against + susceptibility to, 1 (RET)
• Allelic: Manitoba oculotrichoanal syndrome (FREM1)
• Allelic: Medullary thyroid carcinoma (RET)
• Allelic: Microphthalmia, syndromic 6 (BMP4)
• Allelic: Multiple endocrine neoplasia IIa + IIB (RET)
• Allelic: Nephronophthisis 9 (NEK8)
• Allelic: Orofacial cleft 11 (BMP4)
• Allelic: Otofaciocervical syndrome (EYA1)
• Allelic: Pheochromocytoma (RET)
• Allelic: Renal cell carcinoma (HNF1B)
• Allelic: Spastic paraplegia 23 (DSTYK)
• Allelic: Trigonocephaly 2 (FREM1)
• Beaulieu-Boycott-Innes/microceph., MR, distinct face, cardiac + genitourinary malfrom. s. (THOC6)
• Bifid nose with/-out anorectal + renal anomalies (FREM1)
• Branchiootic syndrome 3 (SIX1)
• Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
• Branchiootorenal syndrome 2 (SIX5)
• Congenital anomalies kidney + urinary tract syndr. +/- hear loss, abnormal ears, devel. delay (PBX1)
• Congenital anomalies of kidney + urinary tract 1 (DSTYK)
• Congenital anomalies of kidney + urinary tract 2 (TBX18)
• Congenital anomalies of kidney + urinary tract 3 (NRIP)
• Hypogonadotropic hypogonadism 1 with/-out anosmia, Kallmann syndrome 1 (ANOS1)
• Hypoparathyroidism, sensorineural deafness + renal dysplasia (GATA3)
• Microcephaly, facial dysmorphism, renal agenesis, ambiguous genitalia syndrome (CTU2)
• Multinucleated neurons, anhydramnios, renal dysplasia, cereb, hypoplasia, hydranencephaly (CEP55)
• Papillorenal syndrome (PAX2)
• Renal cysts + diabetes syndrome (HNF1B)
• Renal dysplasia + Stickler syndrome (BMP4)
• Renal dysplasia [panelapp] (EXOC3L2)
• Renal dysplasia, cystic, susceptibility to (BICC1)
• Renal hypodysplasia/aplasia 1 (ITGA8)
• Renal hypodysplasia/aplasia 2 (FGF20)
• Renal hypodysplasia/aplasia 3 (GREB1L)
• Renal-hepatic-pancreatic dysplasia 2 (NEK8)
• Smith-Lemli-Opitz syndrome (DHCR7)
• Townes-Brocks branchiootorenal-like syndrome (SALL1)
• Townes-Brocks syndrome 1, Renal-Ear-Aanal-Radial [REAR] syndrome (SALL1)