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Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

mutations in NKX3-2

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

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - Spondylo-Megaepiphyseal-Metaphyseal Dysplasia: 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Osteochondrodysplasias: 592
    - Spondylo-Megaepiphyseal-Metaphyseal Dysplasia: 1

Related Diseases

1.	Scoliosis

Experts

1.	Baddam, Pranidhi: 1 article (01/2021)
2.	Crump, J Gage: 1 article (01/2021)
3.	Fabian, Peter: 1 article (01/2021)
4.	Graf, Daniel: 1 article (01/2021)
5.	Miyashita, Tetsuto: 1 article (01/2021)
6.	Natarajan, Natasha: 1 article (01/2021)
7.	Naveen Kumar, Arati: 1 article (01/2021)
8.	Smeeton, Joanna: 1 article (01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Spondylo-Megaepiphyseal-Metaphyseal Dysplasia:

1.	Transcription Factors (Transcription Factor)IBA 01/01/2021 - "Mutations in the transcription factor NKX3.2 underlie spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD), which is characterized by skeletal defects including scoliosis, large epiphyses, wide growth plates and supernumerary distal limb joints. "