blomstrand type Chondrodysplasia

Also Known As:

Chondrodysplasia, blomstrand type; Blomstrand lethal osteochondrodysplasia; Blomstrand osteochondrodysplasia; Blomstrand syndrome; Lethal congenital dwarfism with accelerated skeletal maturation

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

Disease Context: Research Results

Neoplasms: 1324753
- Hereditary Neoplastic Syndromes: 112
  - Multiple Hereditary Exostoses: 172
    - blomstrand type Chondrodysplasia: 3
- Neoplasms by Histologic Type: 2
  - Connective and Soft Tissue Neoplasms: 1
    - Connective Tissue Neoplasms: 9
      - Bone Tissue Neoplasms: 1
        Osteochondroma: 292
        Osteochondromatosis: 17
        Multiple Hereditary Exostoses: 172
        blomstrand type Chondrodysplasia: 3
Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Hyperostosis: 347
    - Exostoses: 262
      - Multiple Hereditary Exostoses: 172
        blomstrand type Chondrodysplasia: 3
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - Osteochondroma: 292
        Osteochondromatosis: 17
        Multiple Hereditary Exostoses: 172
        blomstrand type Chondrodysplasia: 3
      - blomstrand type Chondrodysplasia: 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Osteochondrodysplasias: 592
    - blomstrand type Chondrodysplasia: 3
  - Hereditary Neoplastic Syndromes: 112
    - Multiple Hereditary Exostoses: 172
      - blomstrand type Chondrodysplasia: 3

Related Diseases

1.	Osteosclerosis

Experts

1.	Altunoglu, Umut: 1 article (11/2022)
2.	Has, Recep: 1 article (11/2022)
3.	Kalayci, Tugba: 1 article (11/2022)
4.	Kalelioglu, Ibrahim Halil: 1 article (11/2022)
5.	Karaman, Volkan: 1 article (11/2022)
6.	Kayserili, Hulya: 1 article (11/2022)
7.	Nishimura, Gen: 1 article (11/2022)
8.	Sarac Sivrikoz, Tugba: 1 article (11/2022)
9.	Senturk, Leyli: 1 article (11/2022)
10.	Uyguner, Zehra Oya: 1 article (11/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to blomstrand type Chondrodysplasia:

1.	Parathyroid Hormone (Parathormone)IBA 03/01/2007 - "Novel mutations in the parathyroid hormone (PTH)/PTH-related peptide receptor type 1 causing Blomstrand osteochondrodysplasia types I and II." 10/01/1999 - "A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia." 11/01/2022 - "Blomstrand osteochondrodysplasia (BOCD, MIM #215045) is an ultrarare lethal skeletal dysplasia (LSD) perinatally, characterized by extremely advanced bone maturation, generalized osteosclerosis, and severe tetramicromelia caused by biallelic loss-of-function mutations in the parathyroid hormone receptor-1 gene (PTHR1). "
2.	Type 1 Parathyroid Hormone Receptor (Parathyroid Hormone Receptor)IBA 03/01/2007 - "Novel mutations in the parathyroid hormone (PTH)/PTH-related peptide receptor type 1 causing Blomstrand osteochondrodysplasia types I and II." 10/01/1999 - "A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia."
3.	Lysergic Acid Diethylamide (LSD)IBA 11/01/2022 - "Blomstrand osteochondrodysplasia (BOCD, MIM #215045) is an ultrarare lethal skeletal dysplasia (LSD) perinatally, characterized by extremely advanced bone maturation, generalized osteosclerosis, and severe tetramicromelia caused by biallelic loss-of-function mutations in the parathyroid hormone receptor-1 gene (PTHR1). "