ErkrankungMalformationen der Gallenwege, Differentialdiagnose

NGS +

• Allelic: Bardet-Biedl syndrome 14, modifier of (TMEM67)
• Allelic: Bone mineral density variability 1 (LRP5)
• Allelic: Congenital disorder of glycosylation, type Ih (ALG8)
• Allelic: Exudative vitreoretinopathy 4 (LRP5)
• Allelic: Hyperostosis, endosteal (LRP5)
• Allelic: Leukemia, acute myeloid (TERT)
• Allelic: Melanoma, cutaneous malignant, 9 (TERT)
• Allelic: Nephronophthisis 11 (TMEM67)
• Allelic: Osteopetrosis, AD 1 (LRP5)
• Allelic: Osteoporosis (LRP5)
• Allelic: Osteoporosis-pseudoglioma syndrome (LRP5)
• Allelic: Osteosclerosis (LRP5)
• Allelic: Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 4 (DGUOK)
• Allelic: RHYNS syndrome (TMEM67)
• Allelic: van Buchem disease, type 2 (LRP5)
• Association with polycystic liver disease 1 with or without renal cysts (SEC61B)
• COACH syndrome 1 (TMEM67)
• COACH syndrome 2 (CC2D2A)
• COACH syndrome 3 (RPGRIP1L)
• Cerebroretinal microangiopathy with calcifications and cysts 2 (STN1)
• Dyskeratosis congenita, AD 2 (TERT)
• Dyskeratosis congenita, AD 4 (RTEL1)
• Dyskeratosis congenita, AR 4 (TERT)
• Dyskeratosis congenita, AR 5 (RTEL1)
• Joubert syndrome 27 (B9D1)
• Joubert syndrome 6 (TMEM67)
• Joubert syndrome 7 (RPGRIP1L)
• Joubert syndrome 9 (CC2D2A)
• Meckel syndrome 3 (TMEM67)
• Meckel syndrome 5 (RPGRIP1L)
• Meckel syndrome 6 (CC2D2A)
• Meckel syndrome 9 (B9D1)
• Mitochondrial DNA depletion syndrome 3 [hepatocerebral type] (DGUOK)
• Polycystic kidney disease 1 (PKD1)
• Polycystic kidney disease 2 (PKD2)
• Polycystic kidney disease 3 (GANAB)
• Polycystic kidney disease 4, with/-out hepatic disease (PKHD1)
• Polycystic kidney disease 6 with/-out polycystic liver disease (DNAJB11)
• Polycystic liver disease 1 (PRKCSH)
• Polycystic liver disease 2 (SEC63)
• Polycystic liver disease 3 with/-out kidney cysts (ALG8)
• Polycystic liver disease 4 with/-out kidney cysts (LRP5)
• Portal hypertension, noncirrhotic (DGUOK)
• Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 (TERT)
• Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 (RTEL1)