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Spondyloenchondrodysplasia

Also Known As:

Spondyloenchondromatosis; Spondylometaphyseal dysplasia with enchondromatous changes

Networked: 9 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Immune System Diseases: 4321
- Autoimmune Diseases: 34618
  - Spondyloenchondrodysplasia: 9
Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - Spondyloenchondrodysplasia: 9
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Osteochondrodysplasias: 592
    - Spondyloenchondrodysplasia: 9

Related Diseases

1.	Autoimmune Diseases (Autoimmune Disease)
2.	Systemic Lupus Erythematosus (Libman-Sacks Disease)
3.	Hereditary Complement Deficiency Diseases

Experts

1.	Crow, Yanick J: 3 articles (01/2017 - 11/2011)
2.	Honda, Yoshitaka: 2 articles (01/2021 - 01/2017)
3.	Izawa, Kazushi: 2 articles (01/2021 - 01/2017)
4.	Briggs, Tracy A: 2 articles (01/2017 - 04/2016)
5.	Rice, Gillian I: 2 articles (01/2017 - 04/2016)
6.	Bağlan, Esra: 1 article (09/2021)
7.	Bağrıaçık, Emin Ümit: 1 article (09/2021)
8.	Bülbül, Mehmet: 1 article (09/2021)
9.	Güngör, Tülin: 1 article (09/2021)
10.	Karakuş, Resul: 1 article (09/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Spondyloenchondrodysplasia:

1.	Growth Hormone (Somatotropin)IBA 01/01/2017 - "A Case with Spondyloenchondrodysplasia Treated with Growth Hormone." 08/02/2018 - "A few patients with simple spondyloenchondrodysplasia were treated with growth hormone, and those who with autoimmune diseases were treated with immunosuppressants, all of whom were improved to certain extent. "
2.	Immunosuppressive Agents (Immunosuppressants)IBA 08/02/2018 - "A few patients with simple spondyloenchondrodysplasia were treated with growth hormone, and those who with autoimmune diseases were treated with immunosuppressants, all of whom were improved to certain extent. "
3.	Tartrate-Resistant Acid PhosphataseIBA 09/01/2021 - "Spondyloenchondrodysplasia (SPENCD) is a rare autosomal recessive skeletal dysplasia caused by biallelic mutations in the ACP5 gene that encodes tartrate-resistant acid phosphatase (TRAP). " 01/01/2020 - "Biallelic mutations in ACP5, encoding tartrate-resistant acid phosphatase (TRACP), have recently been identified to cause the inherited immuno-osseous disorder, spondyloenchondrodysplasia (SPENCD). " 01/01/2020 - "Characterisation of ACP5 missense mutations encoding tartrate-resistant acid phosphatase associated with spondyloenchondrodysplasia." 12/01/2018 - "Spondyloenchondrodysplasia (SPENCD) is an autosomal recessive skeletal dysplasia by biallelic mutations in ACP5 gene encoding tartrate-resistant acid phosphatase (TRAP). " 01/01/2017 - "Mutations in the ACP5 gene, which encodes tartrate-resistant acid phosphatase (TRAP), cause the immuno-osseous disorder spondyloenchondrodysplasia, which includes as disease features systemic lupus erythematosus (SLE) and a type I interferon (IFN) signature. "
4.	Interferon Type IIBA 11/01/2011 - "Specifically, we discuss a group of conditions, including Aicardi-Goutières syndrome, spondyloenchondrodysplasia, and cases of systemic lupus erythematosus with complement deficiency, in which an upregulation of type I interferons is apparently central to their pathogenesis. " 01/01/2017 - "Mutations in the ACP5 gene, which encodes tartrate-resistant acid phosphatase (TRAP), cause the immuno-osseous disorder spondyloenchondrodysplasia, which includes as disease features systemic lupus erythematosus (SLE) and a type I interferon (IFN) signature. "
5.	InterferonsIBA 04/01/2016 - "In addition, the absence of an interferon signature following immunomodulatory treatments in a patient with significant autoimmune disease may indicate a therapeutic response important for the immune manifestations of spondyloenchondrodysplasia."
6.	Acid PhosphataseIBA 01/01/2017 - "Spondyloenchondrodysplasia (SPENCD) is an autosomal recessive skeletal dysplasia caused by loss of function mutations in acid phosphatase 5, tartrate resistant (ACP5). "
7.	tartaric acid (tartrate)FDA Link 01/01/2017 - "Spondyloenchondrodysplasia (SPENCD) is an autosomal recessive skeletal dysplasia caused by loss of function mutations in acid phosphatase 5, tartrate resistant (ACP5). "
8.	baricitinibIBA 01/01/2021 - "Successful treatment of spondyloenchondrodysplasia with baricitinib."