Einleitung
Diagnostik
Konventionelle medikamentöse Therapie
Chirurgisch-orthopädische Therapie
Physiotherapeutische/rehabilitative Therapie
Pathophysiologie
Kollagen-Biosynthese, Modifikation und Sekretion
Kollagene OI-Typ I–IV
Gen | Protein | OMIM-Gen | Erkrankung | Vererbung | OMIM-Erkrankung |
---|---|---|---|---|---|
COL1A1 | Collagen α1(I) chain (COL1A1) | 120150 | OI-Typ I OI-Typ II OI-Typ III OI-Typ IV | AD AD AD AD | 166200 166210 259420 166220 |
COL1A2 | Collagen α2(I) chain (COL1A2) | 120160 | |||
IFITM5 | Interferon-induced transmembrane protein 5 (IFITM5) | 614757 | OI-Typ V | AD | 610967 |
SERPINF1 | Pigment epithelium-derived factor (PEDF) | 172860 | OI-Typ VI | AR | 613982 |
CRTAP | Cartilage-associated protein (CRTAP) | 605497 | OI-Typ VII | AR | 610682 |
P3H1 (früher: LEPRE1) | Prolyl 3 hydroxylase 1 (P3H1) | 610339 | OI-Typ VIII | AR | 610915 |
PPIB | Peptidyl-prolyl cis-trans isomerase B (PPIB) | 123841 | OI-Typ IX | AR | 259440 |
SERPINH1 | Serpin H1 | 600943 | OI-Typ X | AR | 613848 |
FKBP10 | Peptidyl-prolyl cis-trans isomerase FKBP10 (PPIase FKBP10) Oder: FK506-binding protein 10 | 607063 | OI-Typ XI | AR | 610968 |
SP7 | Transcription factor Sp7 alternativ: Zinc finger protein osterix | 606633 | OI-Typ XII | AR | 613849 |
BMP1 | Bone morphogenetic protein 1 (BMP1) | 112264 | OI-Typ XIII | AR | 614856 |
TMEM38B | Trimeric intracellular cation channel type B (TRIC-B) alternativ: Transmembrane protein 38B (TMEM38B) | 611236 | OI-Typ XIV | AR | 615066 |
WNT1 | Proto-oncogene Wnt‑1 (WNT1) | 164820 | OI-Typ XV | AR | 615220 |
CREB3L1 | Cyclic AMP-responsive element-binding protein 3-like protein 1 (CR3L1) | 616215 | OI-Typ XVI | AR | 616229 |
SPARC | Secreted protein acidic and rich in cysteine (SPARC) | 182120 | OI-Typ XVII | AR | 616507 |
TENT5A | Terminal nucleotidyltransferase 5A (TENT5A) | 611357 | OI-Typ XVIII | AR | 617952 |
MBTPS2 | Membrane-bound transcription factor site‑2 protease (MBTPS2) | 300294 | OI-Typ XIX | XLR | 301014 |
MESD | LRP chaperone MESD | 607783 | OI Typ XX | AR | 618644 |
Andere Formen | |||||
P4HB | Protein disulfide-isomerase (PDI) alternativ: Prolyl 4-hydroxylase subunit beta (P4HB) | 176790 | Cole-Carpenter-Syndrom Typ 1 | AD | 112240 |
PLOD2 | Procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 (PLOD2) | 601865 | Bruck-Syndrom Typ 2 | AR | 609220 |
SEC24D | Protein transport protein Sec24D (SEC24D) | 607186 | Cole-Carpenter-Syndrom Typ 2 | AR | 616294 |
PLS3 | Plastin‑3 (PLS3) | 300131 | Osteoporose | XLD | 300910 |