ErkrankungOsteopetrose, Differentialdiagnose

NGS +

Gruppe seltener Skeletterkrankungen mit vermehrter Knochendichte

• Alias: Marble bone disease; Albers-Schonberg disease
• Allelic: Bleeding disorder, platelet-type, 18 (RASGRP2)
• Allelic: Bone mineral density variability 1 (LRP5)
• Allelic: Coronary artery disease, autosomal dominant, 2 (LRP6)
• Allelic: Exudative vitreoretinopathy 4 (LRP5)
• Allelic: Hyperostosis, endosteal (LRP5)
• Allelic: Hypopigmentation, organomegaly, delayed myelination + development (CLCN7)
• Allelic: Leukoencephalopathy, diffuse hereditary, with spheroids 1 (CSF1R)
• Allelic: Osteolysis, familial expansile (TNFRSF11A)
• Allelic: Osteoporosis (LRP5)
• Allelic: Osteoporosis-pseudoglioma syndrome (LRP5)
• Allelic: Osteosclerosis (LRP5)
• Allelic: Paget disease of bone 2, early-onset (TNFRSF11A)
• Allelic: Polycystic liver disease 4 with/-out kidney cysts (LRP5)
• Allelic: Tooth agenesis, selective, 7 (LRP6)
• Allelic: van Buchem disease, type 2 (LRP5)
• Brain abnormalities, neurodegeneration + dysosteosclerosis (CSF1R)
• Chondrocalcinosis (ANKH)
• Craniodiaphyseal dysplasia, AD (SOST)
• Craniometaphyseal dysplasia (ANKH)
• Craniometaphyseal dysplasia, AR (GJA1)
• Endosteal hyperostosis [GeneReviews] (LRP6)
• Histiocytosis-lymphadenopathy plus syndrome [dysosteosclerosis] (SLC29A3)
• Leukocyte adhesion deficiency, type III (FERMT3)
• Osteoclast-poor AR osteopetrosis
• Osteopetrosis, AD 1 (LRP5)
• Osteopetrosis, AD 2 (CLCN7)
• Osteopetrosis, AD 3 (PLEKHM1)
• Osteopetrosis, AR 1 (TCIRG1)
• Osteopetrosis, AR 2 (TNFSF11)
• Osteopetrosis, AR 3, with renal tubular acidosis (CA2)
• Osteopetrosis, AR 4 (CLCN7)
• Osteopetrosis, AR 5 (OSTM1)
• Osteopetrosis, AR 6 (PLEKHM1)
• Osteopetrosis, AR 7 (TNFRSF11A)
• Osteopetrosis, AR 8 (SNX10)
• Osteosclerotic metaphyseal dysplasia (LRRK1)
• Pycnodysostosis (CTSK)
• Sclerosteosis 1 (SOST)
• Van Buchem disease [Hyperostosis corticalis generalisata] (SOST)