HOME PRODUCTS COMPANY CONTACT FAQ

Research Dictionary Pharma

Sign Up FREE or Login

Cole Carpenter syndrome

Bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features.

Also Known As:

Cole-Carpenter Syndrome

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
      - Osteogenesis Imperfecta: 2193
        Cole Carpenter syndrome: 1
    - Dysostoses: 91
      - Synostosis: 796
        Craniosynostoses: 2516
        Cole Carpenter syndrome: 1
- Musculoskeletal Abnormalities: 43
  - Synostosis: 796
    - Craniosynostoses: 2516
      - Cole Carpenter syndrome: 1
  - Craniofacial Abnormalities: 203
    - Craniosynostoses: 2516
      - Cole Carpenter syndrome: 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Eye Abnormalities: 95
    - Cole Carpenter syndrome: 1
  - Musculoskeletal Abnormalities: 43
    - Synostosis: 796
      - Craniosynostoses: 2516
        Cole Carpenter syndrome: 1
    - Craniofacial Abnormalities: 203
      - Craniosynostoses: 2516
        Cole Carpenter syndrome: 1
- Inborn Genetic Diseases: 11939
  - Osteogenesis Imperfecta: 2193
    - Cole Carpenter syndrome: 1
Eye Diseases: 3522
- Eye Abnormalities: 95
  - Cole Carpenter syndrome: 1
Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Hydrocephalus: 6916
      - Cole Carpenter syndrome: 1
Skin and Connective Tissue Diseases
- Connective Tissue Diseases: 3269
  - Collagen Diseases: 754
    - Osteogenesis Imperfecta: 2193
      - Cole Carpenter syndrome: 1

Experts

1.	Boudko, Sergei: 1 article (03/2015)
2.	Bächinger, Hans-Peter: 1 article (03/2015)
3.	Carrot-Zhang, Jian: 1 article (03/2015)
4.	Fahiminiya, Somayyeh: 1 article (03/2015)
5.	Glorieux, Francis: 1 article (03/2015)
6.	Majewski, Jacek: 1 article (03/2015)
7.	Moffatt, Pierre: 1 article (03/2015)
8.	Mort, John S: 1 article (03/2015)
9.	Rauch, Frank: 1 article (03/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Cole Carpenter syndrome:

1.	Protein Disulfide-IsomerasesIBA 03/05/2015 - "In conclusion, Cole-Carpenter syndrome is caused by a specific de novo mutation in P4HB that impairs the disulfide isomerase activity of PDI."
2.	DNA (Deoxyribonucleic Acid)IBA 03/05/2015 - "To identify the cause of Cole-Carpenter syndrome in the two individuals whose clinical results were presented in the original description of this disorder, we performed whole-exome sequencing of genomic DNA samples from both individuals. "