Table 1 Classification of osteopetrotic conditions, modified from the Nosology and Classification of Genetic Skeletal disorders (2006 revision)[2]
From: Osteopetrosis
| Condition | Inheritance | OMIM No | Gene | Mutation mechanism | Protein | Rodent model |
|---|---|---|---|---|---|---|
| Osteopetrosis, severe neonatal or infantile forms | AR | 259700 | TCIRG1 | Loss of function | Subunit of V-ATPase pump |
Oc/oc
Tcirg1-/- |
| AR | CLCN7 | Loss of function | Chloride channel | Clcn7-/- | ||
| AR | OSTM1 | Loss of function | Osteopetrosis associated transmembrane protein | Gl/gl | ||
| AR | RANKL | Loss of function | Receptor Activator for Nuclear Factor κ B Ligand | Tnfsfl 1-/- | ||
| AR | RANK | Loss of function | Receptor Activator for Nuclear Factor κ B | Tnfrsf11a-/- | ||
| Osteopetrosis, intermediate form | AR | 259710 | CLCN7 | Chloride channel | ||
| AR | PLEKHM1 | Loss of function | Pleckstrin homology domain containing family M, member 1 | ia rat | ||
| Osteopetrosis with renal tubular acidosis | AR | 259730 | CAII | Loss of function | Carbonic anhydrase II | |
| Osteopetrosis, late-onset form ('Albers-Schönberg disease') | AD | 166600 | CLCN7 | Dominant negative | Chloride channel | |
| Osteopetrosis with ectodermal dysplasia and immune defect (OLEDAID) | XL | 300301 | IKBKG (NEMO) | Loss of function | Inhibitor of kappa light polypeptide gene enhancer, kinase of | Nemo-/- |
| Leukocyte adhesion deficiency syndrome (LAD-III) and osteopetrosis | AR | Kindlin-3 | Loss of function | Kindlin-3 | Kind3-/_ | |
| AR | CalDAG-GEF1 | Loss of function | Calcium and diacylglycerol-regulated guanine nucleotide exchange factor 1 | CalDAG-GEF1-/- | ||
| Pycnodysostosis | AR | 265800 | CTSK | Loss of function | Cathepsin K | cathK-/- |
| Osteopoikilosis | AD | 155950 | LEMD3 | Loss of function | LEM domain-containing 3 | |
| Melorheostosis with osteopoikilosis | AD | 155950 | LEMD3 | Loss of function | LEM domain-containing 3 | |
| Dysosteosclerosis | AR | 224300 | ||||
| Osteomesopyknosis | AD | 166450 | ||||
| Osteopathia striata congenita with cranial stenosis | XL | 300373 | WTX | Loss of function | Wilms tumour gene on the X chromosome | |
| Osteosclerosis, Stanescu type | AD | 122900 |