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Classification of osteopetrotic conditions, modified from the Nosology and Classification of Genetic Skeletal disorders (2006 revision)[2] |
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| Condition |
Inheritance |
OMIM No |
Gene |
Mutation mechanism |
Protein |
Rodent model |
|
|
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| Osteopetrosis, severe neonatal or infantile forms |
AR |
259700 |
TCIRG1 |
Loss of function |
Subunit of V-ATPase pump |
Oc/oc Tcirg1-/- |
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|
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| AR |
CLCN7 |
Loss of function |
Chloride channel |
Clcn7-/- |
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| AR |
OSTM1 |
Loss of function |
Osteopetrosis associated transmembrane protein |
Gl/gl |
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| AR |
RANKL |
Loss of function |
Receptor Activator for Nuclear Factor κ B Ligand |
Tnfsfl 1-/- |
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| AR |
RANK |
Loss of function |
Receptor Activator for Nuclear Factor κ B |
Tnfrsf11a-/- |
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| Osteopetrosis, intermediate form |
AR |
259710 |
CLCN7 |
Chloride channel |
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| AR |
PLEKHM1 |
Loss of function |
Pleckstrin homology domain containing family M, member 1 |
ia rat |
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| Osteopetrosis with renal tubular acidosis |
AR |
259730 |
CAII |
Loss of function |
Carbonic anhydrase II |
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| Osteopetrosis, late-onset form ('Albers-Schönberg disease') |
AD |
166600 |
CLCN7 |
Dominant negative |
Chloride channel |
|
|
|
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| 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-/- |
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| Leukocyte adhesion deficiency syndrome (LAD-III) and osteopetrosis |
AR |
Kindlin-3 |
Loss of function |
Kindlin-3 |
Kind3-/_ |
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|
|
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| AR |
CalDAG-GEF1 |
Loss of function |
Calcium and diacylglycerol-regulated guanine nucleotide exchange factor 1 |
CalDAG-GEF1-/- |
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| Pycnodysostosis |
AR |
265800 |
CTSK |
Loss of function |
Cathepsin K |
cathK-/- |
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| Osteopoikilosis |
AD |
155950 |
LEMD3 |
Loss of function |
LEM domain-containing 3 |
|
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| Melorheostosis with osteopoikilosis |
AD |
155950 |
LEMD3 |
Loss of function |
LEM domain-containing 3 |
|
|
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| Dysosteosclerosis |
AR |
224300 |
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| Osteomesopyknosis |
AD |
166450 |
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| Osteopathia striata congenita with cranial stenosis |
XL |
300373 |
WTX |
Loss of function |
Wilms tumour gene on the X chromosome |
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| Osteosclerosis, Stanescu type |
AD |
122900 |
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Stark and Savarirayan Orphanet Journal of Rare Diseases 2009 4:5 doi:10.1186/1750-1172-4-5 |
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