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Arhinia, choanal atresia, and microphthalmia

Also Known As:

Bosma arhinia microphthalmia syndrome

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

Disease Context: Research Results

Respiratory Tract Diseases: 6015
- Nose Diseases: 183
  - Choanal Atresia: 229
    - Arhinia, choanal atresia, and microphthalmia: 1
- Respiratory System Abnormalities
  - Choanal Atresia: 229
    - Arhinia, choanal atresia, and microphthalmia: 1
Otorhinolaryngologic Diseases: 203
- Nose Diseases: 183
  - Choanal Atresia: 229
    - Arhinia, choanal atresia, and microphthalmia: 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Eye Abnormalities: 95
    - Microphthalmos: 645
      - Arhinia, choanal atresia, and microphthalmia: 1
  - Respiratory System Abnormalities
    - Choanal Atresia: 229
      - Arhinia, choanal atresia, and microphthalmia: 1
Eye Diseases: 3522
- Eye Abnormalities: 95
  - Microphthalmos: 645
    - Arhinia, choanal atresia, and microphthalmia: 1
Body Regions
- Head
  - Face
    - Nose
      - Arhinia, choanal atresia, and microphthalmia: 1
Respiratory System
- Nose
  - Arhinia, choanal atresia, and microphthalmia: 1
Sense Organs
- Nose
  - Arhinia, choanal atresia, and microphthalmia: 1

Related Diseases

1.	Facioscapulohumeral Muscular Dystrophy

Experts

1.	Evangelista, Teresinha: 1 article (10/2019)
2.	Ferlini, Alessandra: 1 article (10/2019)
3.	Johnson, Katherine: 1 article (10/2019)
4.	Kimonis, Virginia: 1 article (10/2019)
5.	Lamers, Meindert: 1 article (10/2019)
6.	Lemmers, Richard J L F: 1 article (10/2019)
7.	Moore, Steven A: 1 article (10/2019)
8.	Mozaffar, Tahseen: 1 article (10/2019)
9.	Sacconi, Sabrina: 1 article (10/2019)
10.	San Leon Granado, David: 1 article (10/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Arhinia, choanal atresia, and microphthalmia:

1.	Proteins (Proteins, Gene)FDA Link 10/01/2019 - "Variants in the Structural Maintenance of Chromosomes flexible Hinge Domain-containing protein 1 (SMCHD1) can cause facioscapulohumeral muscular dystrophy type 2 (FSHD2) and the unrelated Bosma arhinia microphthalmia syndrome (BAMS). "
2.	Adenosine Triphosphatases (ATPase)IBA 10/01/2019 - "SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain."