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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     
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