Achondrogenesis type 1A

Also Known As:

Achondrogenesis, Houston-Harris type; Achondrogenesis, Type Ia; Houston-Harris achondrogenesis

Networked: 4 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Dwarfism: 1191
      - Achondroplasia: 567
        Achondrogenesis type 1A: 4
    - Osteochondrodysplasias: 592
      - Achondroplasia: 567
        Achondrogenesis type 1A: 4
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Dwarfism: 1191
    - Achondroplasia: 567
      - Achondrogenesis type 1A: 4

Related Diseases

1.	Osteochondrodysplasias (Spondyloepiphyseal Dysplasia)
2.	Achondrogenesis

Experts

1.	Chen, Min: 1 article (01/2021)
2.	Dong, Minyue: 1 article (01/2021)
3.	Girisha, Katta M: 1 article (01/2021)
4.	Guleria, Vishal S: 1 article (01/2021)
5.	Hu, Gang: 1 article (01/2021)
6.	Kausthubham, Neethukrishna: 1 article (01/2021)
7.	Liu, Bei: 1 article (01/2021)
8.	Nayak, Shalini S: 1 article (01/2021)
9.	Qian, Yeqing: 1 article (01/2021)
10.	Radhakrishnan, Periyasamy: 1 article (01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Achondrogenesis type 1A:

1.	Golgi Matrix ProteinsIBA 04/15/2015 - "Previous studies on the golgin GMAP-210 (also known as TRIP11), which is mutated in the rare skeletal disorder achondrogenesis type 1A, have yielded conflicting results regarding its involvement in trafficking. "
2.	Matrilin ProteinsIBA 07/01/2007 - "Molecular analysis in the presented case of achondrogenesis type IA did not reveal mutations in the COL2A1 and SLC26A2 genes, which are known to cause achondrogenesis types IB and type II. Although the extracellular cartilage matrix was severely altered, all of the investigated matrix molecules (collagens, aggrecan, matrilins, cartilage oligomeric protein [COMP]) showed a normal distribution pattern. "
3.	Aggrecans (Aggrecan)IBA 07/01/2007 - "Molecular analysis in the presented case of achondrogenesis type IA did not reveal mutations in the COL2A1 and SLC26A2 genes, which are known to cause achondrogenesis types IB and type II. Although the extracellular cartilage matrix was severely altered, all of the investigated matrix molecules (collagens, aggrecan, matrilins, cartilage oligomeric protein [COMP]) showed a normal distribution pattern. "
4.	Thyroid Hormone Receptors (Thyroid Hormone Receptor)IBA 01/01/2021 - "Mutations of the thyroid hormone receptor interactor 11 gene (TRIP11, OMIM: 604505) at 14q32.12 have been associated with the autosomal recessive achondrogenesis type IA (ACG1A, OMIM: 200600) or osteochondrodysplasia (ODCD, OMIM: 184260). "
5.	Proteins (Proteins, Gene)FDA Link 07/01/2007 - "Molecular analysis in the presented case of achondrogenesis type IA did not reveal mutations in the COL2A1 and SLC26A2 genes, which are known to cause achondrogenesis types IB and type II. Although the extracellular cartilage matrix was severely altered, all of the investigated matrix molecules (collagens, aggrecan, matrilins, cartilage oligomeric protein [COMP]) showed a normal distribution pattern. "
6.	Microtubule-Associated Proteins (Microtubule-Associated Protein 2)IBA 01/01/2021 - "Biallelic loss of function variants in TRIP11 encoding for the Golgi microtubule-associated protein 210 (GMAP-210) causes the lethal chondrodysplasia achondrogenesis type 1A (ACG1A). "
7.	CollagenIBA 07/01/2007 - "Molecular analysis in the presented case of achondrogenesis type IA did not reveal mutations in the COL2A1 and SLC26A2 genes, which are known to cause achondrogenesis types IB and type II. Although the extracellular cartilage matrix was severely altered, all of the investigated matrix molecules (collagens, aggrecan, matrilins, cartilage oligomeric protein [COMP]) showed a normal distribution pattern. "