ErkrankungOsteopetrose, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Osteopetrose mit 9 bzw. zusammen genommen 21 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
OP8642
Anzahl Gene
22
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
18,2 kb (Core-/Basis-Gene)
38,9 kb (Erweitertes Panel)
38,9 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
CA2 | 783 | AR | |
CLCN7 | 2418 | AD und/oder AR | |
LRP5 | 4848 | AD und/oder AR und/oder Dig und/oder Mult | |
OSTM1 | 1005 | AR | |
PLEKHM1 | 3171 | AD und/oder AR | |
SNX10 | 606 | AR | |
TCIRG1 | 2493 | AR | |
TNFRSF11A | 1851 | AD und/oder AR und/oder Mult | |
TNFSF11 | 954 | AR und/oder Mult | |
AMER1 | 3408 | XL | |
ANKH | 1479 | AD | |
CTSK | 990 | AR | |
FAM20C | 1755 | AR | |
FERMT3 | 1992 | AR | |
GJA1 | 1149 | AD und/oder AR | |
LEMD3 | 2736 | AD | |
PTH1R | 1782 | AD und/oder AR | |
RASGRP2 | 1830 | AR | |
SLC29A3 | 1428 | AR | |
SOST | 642 | AD und/oder AR und/oder Mult | |
TGFB1 | 1173 | AD und/oder AR | |
TYROBP | 309 | AR |
Infos zur Erkrankung
Klinischer Kommentar
Gruppe seltener Skeletterkrankungen mit vermehrter Knochendichte
Synonyme
- 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)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder Dig und/oder Mult
- AD und/oder AR und/oder Mult
- AR
- AR und/oder Mult
- XL
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Q78.2
Bioinformatik und klinische Interpretation
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