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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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Orphanet Journal of Rare Diseases

ISSN: 1750-1172