hereditary expansile Polyostotic osteolytic dysplasia

Also Known As:

Polyostotic osteolytic dysplasia, hereditary expansile; Expansile osteolysis, familial; Familial expansile osteolysis; McCabe disease; Osteolysis, familial expansile

Networked: 12 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Bone Resorption: 17715
    - Osteolysis: 4253
      - hereditary expansile Polyostotic osteolytic dysplasia: 12
Musculoskeletal and Neural Physiological Phenomena
- Musculoskeletal Physiological Phenomena
  - Bone Remodeling
    - Bone Resorption: 17715
      - Osteolysis: 4253
        hereditary expansile Polyostotic osteolytic dysplasia: 12

Related Diseases

1.	Developmental Bone Diseases (Bone Dysplasia)
2.	Bone Diseases (Bone Disease)
3.	Familial Paget's disease of bone
4.	Hyperostosis corticalis deformans juvenilis
5.	Rickets (Rachitis)

Experts

1.	Ralston, Stuart H: 4 articles (01/2021 - 05/2006)
2.	McAlister, William H: 2 articles (11/2014 - 04/2014)
3.	Mumm, Steven: 2 articles (11/2014 - 04/2014)
4.	Whyte, Michael P: 2 articles (11/2014 - 04/2014)
5.	Ralston, S H: 2 articles (11/2001 - 01/2000)
6.	Albagha, Omar M E: 1 article (01/2021)
7.	Alonso, Nerea: 1 article (01/2021)
8.	Rose, Lorraine: 1 article (01/2021)
9.	Van't Hof, Rob J: 1 article (01/2021)
10.	Wani, Sachin: 1 article (01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to hereditary expansile Polyostotic osteolytic dysplasia:

1.	Receptor Activator of Nuclear Factor-kappa B (TRANCE-R)IBA 01/01/2019 - "Insertion mutations within exon 1 of the TNFRSF11A gene, encoding the receptor activator of nuclear factor kappa B (RANK), cause severe PDB-like disorders including familial expansile osteolysis, early-onset familial PDB and expansile skeletal hyperphosphatasia. " 11/01/2001 - "Genetic factors are important in the pathogenesis of PDB, and previous studies have shown that the PDB-like bone dysplasia familial expansile osteolysis is caused by activating mutations in the TNFRSF11A gene that encodes receptor activator of nuclear factor kappa B (RANK); however, linkage studies, coupled with mutation screening, have excluded involvement of RANK in the vast majority of patients with PDB. " 01/01/2021 - "Early onset familial Paget's disease of bone (EoPDB), familial expansile osteolysis, and expansile skeletal hyperphosphatasia are related disorders caused by insertion mutations in exon 1 of the TNFRSF11A gene, which encodes receptor activator of nuclear factor κB (RANK) protein. " 01/01/2023 - "Ultra-rare mendelian osteolytic disorders caused by different length in-frame activating duplications within exon 1 of TNFRSF11A encoding receptor activator of nuclear factor-kappa B (RANK) comprise familial expansile osteolysis (FEO), expansile skeletal hyperphosphatasia (ESH), early-onset familial Paget's disease of bone (PDB2), juvenile Paget's disease 2 (JPD2), and panostotic expansile bone disease (PEBD). "
2.	Protein Sorting Signals (Signal Peptide)IBA 08/01/2011 - "Familial expansile osteolysis and related disorders are caused by heterozygous tandem duplication mutations in the signal peptide region of the gene encoding receptor activator of NF-κB (RANK), a receptor critical for osteoclast formation and function. " 01/01/2011 - "In the Paget-like disorders, familial expansile osteolysis, early onset Paget's disease and expansile skeletal hyperphosphatasia, heterozygous insertion mutations are found in the RANK signal peptide. " 01/01/2000 - "Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis." 11/01/2014 - "The patients with autosomal dominant accelerated bone remodeling have familial expansile osteolysis, early-onset Paget's disease of bone, expansile skeletal hyperphosphatasia, or panostotic expansile bone disease due to heterozygous 18-, 27-, 15-, and 12-bp insertional duplications, respectively, within exon 1 of TNFRSF11A that encodes the signal peptide of RANK. "
3.	NF-kappa B (NF-kB)IBA 05/01/2006 - "The rare PDB-like syndromes of familial expansile osteolysis, early-onset familial PDB, and expansile skeletal hyperphosphatasia are caused by insertion mutations in TNFRSF11A, which encodes receptor activator of nuclear factor (NF)kappaB (RANK)-a critical regulator of osteoclast function. "
4.	Biomarkers (Surrogate Marker)IBA 04/01/2014 - "His clinical and radiographic findings, elevated serum markers, and disorganized bone morphology suggested amplified receptor activator of NF-κB (RANK) signaling, even though his disorder differed from conditions with known constitutive activation of RANK signaling (eg, familial expansile osteolysis). "
5.	Vitamin D FDA LinkGeneric 01/01/2006 - "In this article, we analyze primary and secondary osteoporosis, rickets, osteomalacia (nutritional and hereditary vitamin D-dependent, hypophosphatemic and that due to renal tubular abnormalities), renal osteodystrophy, sclerosing bony disorders, and some genetic bone diseases (hypophosphatasia, fibrous dysplasia, skeletal dysplasia, juvenile Paget disease, familial expansile osteolysis, and osteoporosis pseudoglioma syndrome). "
6.	Technetium Tc 99m MedronateIBA 12/01/2023 - "We present a novel case of familial expansile osteolysis evaluated on 99mTc-MDP bone scan with correlative radiographs and CT." 12/01/2023 - "A Unique Case of Familial Expansile Osteolysis: Findings on 99mTc-MDP Bone Scan."