osteoporosis-pseudoglioma syndrome

Summary
Synonym
  • OPPG
  • ocular form of osteogenesis imperfecta
Definition
A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13.
Super Class
autosomal recessive disease syndrome
External Links
Disease Ontology
DOID:0060849
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
3636 INPPL1 inositol polyphosphate phosphatase like 1
4041 LRP5 LDL receptor related protein 5
Displaying 1 entry
Gene ID Gene Symbol Description Source
16973 Lrp5 low density lipoprotein receptor-related protein 5
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O15357 Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2

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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