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Isolated Microphthalmia with Coloboma 5

mutation in SHH

Also Known As:

Microphthalmia, Isolated, with Coloboma 5; MCOPCB5

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

Disease Context: Research Results

Eye Diseases: 3522
- Eye Abnormalities: 95
  - Microphthalmos: 645
    - Isolated Microphthalmia with Coloboma 5: 1
  - Coloboma: 478
    - Isolated Microphthalmia with Coloboma 5: 1
- Hereditary Eye Diseases: 18
  - Coloboma: 478
    - Isolated Microphthalmia with Coloboma 5: 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Eye Abnormalities: 95
    - Microphthalmos: 645
      - Isolated Microphthalmia with Coloboma 5: 1
    - Coloboma: 478
      - Isolated Microphthalmia with Coloboma 5: 1

Related Diseases

1.	Holoprosencephaly (Arhinencephaly)

Experts

1.	Benoit, Virginie: 1 article (11/2021)
2.	Briand, Audrey: 1 article (11/2021)
3.	Brisset, Sophie: 1 article (11/2021)
4.	Drévillon, Loïc: 1 article (11/2021)
5.	Giurgea, Irina: 1 article (11/2021)
6.	Goossens, Michel: 1 article (11/2021)
7.	Heide, Solveig: 1 article (11/2021)
8.	Laudouar, Quitterie: 1 article (11/2021)
9.	Lecerf, Laure: 1 article (11/2021)
10.	Mouka, Aurélie: 1 article (11/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Isolated Microphthalmia with Coloboma 5:

1.	9 alpha,11 alpha,15 alpha- trihydroxy- 16- phenoxy- 17,18,19,20- tetranorprosta- 4,5,13- trienoic acid (TPT)IBA 11/01/2021 - "Terminal deletions of the long arm of chromosome 7 are well known and frequently associated with syndromic holoprosencephaly due to the involvement of the SHH (aliases HHG1, SMMCI, TPT, TPTPS, and MCOPCB5) gene region. "