Statements (56)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affects |
adults
children bones |
| gptkbp:alsoKnownAs |
Albers-Schönberg disease
marble bone disease |
| gptkbp:cause |
gptkb:anemia
hearing loss vision loss hepatosplenomegaly bone fractures cranial nerve compression |
| gptkbp:causedBy |
defective osteoclast function
|
| gptkbp:characterizedBy |
brittle bones
increased bone density |
| gptkbp:complication |
hydrocephalus
dental problems osteomyelitis |
| gptkbp:diagnosedBy |
gptkb:X-rays
genetic testing |
| gptkbp:firstDescribed |
1904
Heinrich Albers-Schönberg |
| gptkbp:hasGeneticCause |
mutations in CAII gene
mutations in CLCN7 gene mutations in LRP5 gene mutations in OSTM1 gene mutations in PLEKHM1 gene mutations in SNX10 gene mutations in TCIRG1 gene mutations in TNFRSF11A gene mutations in TNFSF11 gene |
| gptkbp:hasOrphanetID |
668
|
| https://www.w3.org/2000/01/rdf-schema#label |
osteopetrosis
|
| gptkbp:ICD-10_code |
Q78.2
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:MeSH_ID |
gptkb:D010009
|
| gptkbp:OMIM |
259700
|
| gptkbp:prevalence |
rare
1 in 100,000 to 500,000 births |
| gptkbp:subspecies |
autosomal recessive osteopetrosis
autosomal dominant osteopetrosis intermediate osteopetrosis |
| gptkbp:symptom |
recurrent infections
bone pain growth failure |
| gptkbp:treatment |
bone marrow transplant
vitamin D interferon gamma-1b calcium restriction |
| gptkbp:bfsParent |
gptkb:Vacuolar-type_H+-ATPase
gptkb:Carbonic_anhydrase_2 gptkb:Carbonic_anhydrase_II gptkb:osteoclasts gptkb:Lil_Bub |
| gptkbp:bfsLayer |
7
|