autosomal recessive Spondylocostal dysostosis

Also Known As:

Spondylocostal dysostosis, autosomal recessive; Autosomal recessive spondylocostal dysostosis; Spondylocostal Dysostosis 2, Autosomal Recessive; Spondylocostal Dysostosis 3, Autosomal Recessive

Networked: 3 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Dysostoses: 91
      - autosomal recessive Spondylocostal dysostosis: 3

Related Diseases

1.	Alagille Syndrome (Alagille-Watson Syndrome)
2.	Neoplasms (Cancer)
3.	Dowling-Degos Disease
4.	Limb-girdle muscular dystrophy autosomal recessive
5.	Adams Oliver syndrome

Experts

1.	Haltiwanger, Robert S: 1 article (01/2021)
2.	Luther, Kelvin B: 1 article (01/2021)
3.	Matsumoto, Kenjiroo: 1 article (01/2021)
4.	Leonard, Laura D: 1 article (06/2012)
5.	Penton, Andrea L: 1 article (06/2012)
6.	Spinner, Nancy B: 1 article (06/2012)
7.	Bonafé, L: 1 article (07/2003)
8.	Gassner, M: 1 article (07/2003)
9.	Giunta, C: 1 article (07/2003)
10.	Steinmann, B: 1 article (07/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to autosomal recessive Spondylocostal dysostosis:

1.	Notch2 ReceptorIBA 06/01/2012 - "Notch associated disorders include the autosomal dominant, multi-system, Alagille syndrome caused by mutations in both a ligand (Jagged1 (JAG1)) and receptor (NOTCH2) and autosomal recessive spondylocostal dysostosis, caused by mutations in a ligand (Delta-like-3 (DLL3)), as well as several other members of the Notch signaling pathway. "
2.	GlycosyltransferasesIBA 01/01/2021 - "Mutations in the glycosyltransferases modifying Notch have been identified in several diseases, including Dowling-Degos Disease (haploinsufficiency of POFUT1 or POGLUT1), a form of limb-girdle muscular dystrophy (autosomal recessive mutations in POGLUT1), Spondylocostal Dysostosis 3 (autosomal recessive mutations in LFNG), Adams-Oliver syndrome (autosomal recessive mutations in EOGT), and some cancers (amplification, gain or loss-of-function of POFUT1, Fringe enzymes, POGLUT1, MGAT3). "
3.	Proteins (Proteins, Gene)FDA Link 07/01/2003 - "As all three mutations predict truncation of the DLL3 protein and loss of the membrane-attaching domain, the results confirm that autosomal recessive spondylocostal dysostosis represents the null phenotype of DLL3, with remarkable phenotypic consistency across families."
4.	LigandsIBA 06/01/2012 - "Notch associated disorders include the autosomal dominant, multi-system, Alagille syndrome caused by mutations in both a ligand (Jagged1 (JAG1)) and receptor (NOTCH2) and autosomal recessive spondylocostal dysostosis, caused by mutations in a ligand (Delta-like-3 (DLL3)), as well as several other members of the Notch signaling pathway. "
5.	EnzymesIBA 01/01/2021 - "Mutations in the glycosyltransferases modifying Notch have been identified in several diseases, including Dowling-Degos Disease (haploinsufficiency of POFUT1 or POGLUT1), a form of limb-girdle muscular dystrophy (autosomal recessive mutations in POGLUT1), Spondylocostal Dysostosis 3 (autosomal recessive mutations in LFNG), Adams-Oliver syndrome (autosomal recessive mutations in EOGT), and some cancers (amplification, gain or loss-of-function of POFUT1, Fringe enzymes, POGLUT1, MGAT3). "