autosomal dominant osteopetrosis 2

Summary
Synonym
  • Albers-Schonberg osteopetrosis
  • OPTA2
  • autosomal dominant Albers-Schonberg disease
  • autosomal dominant osteopetrosis type II
  • osteopetrosis autosomal dominant type 2
Definition
An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13.
Super Class
autosomal dominant disease osteopetrosis spinal disease
External Links
Disease Ontology
DOID:0110938
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 7 entries
Gene ID Gene Symbol Description Source
410 ARSA arylsulfatase A
1178 CLC Charcot-Leyden crystal galectin
1718 DHCR24 24-dehydrocholesterol reductase
2135 EXTL2 exostosin like glycosyltransferase 2
2137 EXTL3 exostosin like glycosyltransferase 3
8560 DEGS1 delta 4-desaturase, sphingolipid 1
9791 PTDSS1 phosphatidylserine synthase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024