Condition	Inheritance	Mutation mechanism	Gene	Protein
Osteopetrosis, severe neonatal or infantile forms	AR	Loss of function	TCIRG1	Subunit of V-ATPase pump
			RANKL	Receptor Activator for Nuclear Factor κB Ligand
			OSTM1	Osteopetrosis associated transmembrane protein
			CLCN7	Chloride channel
			RANK	Receptor Activator for Nuclear Factor κB
Osteopetrosis, intermediate form	AR	Loss of function	CLCN7	Chloride channel
Osteopetrosis, intermediate form	AR	Loss of function	PLEKHM1	Pleckstrin homology domain containing family M, member 1
Osteopetrosis with renal tubular acidosis	AR	Loss of function	CAII	Carbonic anhydrase II
Osteopetrosis, late-onset form (Albers-Schönberg disease)	AD	Dominant negative	CLCN7	Chloride channel
Osteopetrosis with ectodermal dysplasia and immune defect (OLEDAID)	XL	Loss of function	IKBKG (NEMO)	Inhibitor of kappa light polypeptide gene enhancer, kinase of
Leukocyte adhesion deficiency syndrome (LAD-III) and osteopetrosis	AR	Loss of function	Kindlin-3	Kindlin-3
	AR	Loss of function	CalDAG-GEF1	Calcium and diacylglycerol-regulated guanine nucleotide exchange factor 1
Pyknodysostosis	AR	Loss of function	CTSK	Cathepsin K
Osteopoikilosis	AD	Loss of function	LEMD3	LEM domain-containing 3
Melorheostosis with osteopoikilosis	AD	Loss of function	LEMD3	LEM domain-containing 3
Dysosteosclerosis	AR
Osteomesopyknosis	AD
Osteopathia striata congenita with cranial stenosis	XL	Loss of function	WTX	Wilms tumour gene on the X chromosome
Osteosclerosis, Stanescu type	AD