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Diaphanospondylodysostosis

Also Known As:

Vertebral Ossification, Defect in, with Nephrogenic Rests

Networked: 4 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Cystic Kidney Diseases (Cystic Kidney Disease)
2.	Dysostoses

Experts

1.	Park, Ho Eun: 1 article (03/2022)
2.	Shin, Yong Beom: 1 article (03/2022)
3.	Yoon, Jin A: 1 article (03/2022)
4.	Braun, Frederik: 1 article (12/2021)
5.	Gangfuß, Andrea: 1 article (12/2021)
6.	Haack, Tobias B: 1 article (12/2021)
7.	Roos, Andreas: 1 article (12/2021)
8.	Schara, Ulrike: 1 article (12/2021)
9.	Schweiger, Bernd: 1 article (12/2021)
10.	Stöbe, Petra: 1 article (12/2021)

Drugs and Biologics

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

1.	Bone Morphogenetic Proteins (Bone Morphogenetic Protein)IBA 12/01/2021 - "Diaphanospondylodysostosis (DSD) is a rare congenital, lethal skeletal disorder caused by recessively inherited mutations in the BMPER gene, which encodes the bone morphogenetic protein-binding endothelial cell precursor-derived regulator. " 03/03/2022 - "Bone morphogenetic protein-binding endothelial cell precursor-derived regulator (BMPER) gene mutation presents a disease spectrum ranging from a mild type of ischiospinal dysostosis (ISD) to a more severe type of diaphanospondylodysostosis (DSD). " 12/01/2015 - "Diaphanospondylodysostosis (DSD), caused by loss of bone morphogenetic protein-binding endothelial regulator (BMPER), has been considered a lethal skeletal dysplasia characterized by severe deficiency of vertebral body and sacral ossification, reduced rib number and cystic kidneys. " 01/04/2016 - "ISD is similar to, but milder than the lethal/semilethal condition termed diaphanospondylodysostosis (DSD), which is associated with homozygous or compound heterozygous mutations of bone morphogenetic protein-binding endothelial regulator protein (BMPER) gene. "
2.	Proteins (Proteins, Gene)FDA Link 01/04/2016 - "ISD is similar to, but milder than the lethal/semilethal condition termed diaphanospondylodysostosis (DSD), which is associated with homozygous or compound heterozygous mutations of bone morphogenetic protein-binding endothelial regulator protein (BMPER) gene. "