Gracile bone dysplasia

Also Known As:

Habrodysplasia; Osteocraniosplenic syndrome; Osteocraniostenosis; Skeletal dysplasia, lethal, with gracile bones

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

1.	Dimke, Henrik: 1 article (11/2021)
2.	Lee, Christy Hui Lin: 1 article (11/2021)
3.	Tan, Rebecca Siu Ga: 1 article (11/2021)
4.	Todd Alexander, R: 1 article (11/2021)
5.	Boddy, Michael N: 1 article (01/2021)
6.	Jami-Alahmadi, Yasaman: 1 article (01/2021)
7.	Lazzerini-Denchi, Eros: 1 article (01/2021)
8.	Nie, Minghua: 1 article (01/2021)
9.	Oravcová, Martina: 1 article (01/2021)
10.	Wohlschlegel, James A: 1 article (01/2021)

Drugs and Important Biological Agents (IBA) related to Gracile bone dysplasia:

1.	Serine Proteases (Serine Protease)IBA 10/05/2020 - "Dominant missense mutations in the human serine protease FAM111A underlie perinatally lethal gracile bone dysplasia and Kenny-Caffey syndrome, yet how FAM111A mutations lead to disease is not known. " 11/01/2021 - "Additionally, the putative serine protease, FAM111A, is discussed as a potential regulator of the CaSR because mutations in FAM111A cause Kenny Caffey syndrome type 2, gracile bone dysplasia, and osteocraniostenosis, diseases that are characterized by hypocalcemia, hypoparathyroidism, and bony abnormalities, i.e. "
2.	Proteins (Proteins, Gene)FDA Link 01/01/2019 - "Additionally, FAM111A is a poorly characterized cellular protein whose mutation leads to two severe human syndromes, Kenny-Caffey syndrome and osteocraniostenosis. "
3.	trypsin-like serine proteaseIBA 01/01/2021 - "Mutations in the nuclear trypsin-like serine protease FAM111A cause Kenny-Caffey syndrome (KCS2) with hypoparathyroidism and skeletal dysplasia or perinatally lethal osteocraniostenosis (OCS). "