Anophthalmia with pulmonary hypoplasia

Also Known As:

Anophthalmia, Clinical, With Mild Facial Dysmorphism And Variable Malformations Of The Lung, Heart, And Diaphragm; Anophthalmia-Microphthalmia And Pulmonary Hypoplasia; MCOPS9; Matthew Wood syndrome; Matthew-Wood syndrome; Microphthalmia, Syndromic 9; Pulmonary agenesis, Microphthalmia, and Diaphragmatic defect; Spear Syndrome

Networked: 8 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Microphthalmos
2.	Eye Diseases (Eye Disease)
3.	Type 2 Diabetes Mellitus (MODY)
4.	Anophthalmos (Anophthalmia)

Experts

1.	von Lintig, Johannes: 2 articles (08/2015 - 03/2008)
2.	Han, Lu: 1 article (01/2020)
3.	He, Yihua: 1 article (01/2020)
4.	Sun, Hairui: 1 article (01/2020)
5.	Yu, Shaomei: 1 article (01/2020)
6.	Zhang, Hongjia: 1 article (01/2020)
7.	Zhou, Xiaoxue: 1 article (01/2020)
8.	Carnielli, Virgilio P: 1 article (04/2019)
9.	Nobile, Stefano: 1 article (04/2019)
10.	Novelli, Antonio: 1 article (04/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Anophthalmia with pulmonary hypoplasia:

1.	Vitamin A (Retinol)FDA LinkGeneric 03/01/2008 - "RBP4 disrupts vitamin A uptake homeostasis in a STRA6-deficient animal model for Matthew-Wood syndrome." 08/01/2015 - "Impairment in vitamin A transport and uptake homeostasis are associated with diseases including type 2 diabetes and a microphthalmic syndrome known as Matthew Wood Syndrome. " 08/15/2013 - "Mutations in STRA6, the gene encoding the cellular receptor for vitamin A, in patients with Matthew-Wood syndrome and anophthalmia/microphthalmia (A/M), have previously demonstrated the importance of retinol metabolism in human eye disease. " 01/01/2023 - "Matthew-Wood syndrome is caused by inactivating mutations of a transmembrane protein gene STRA6 that transports vitamin A (retinol) from extracellular into intracellular spaces. " 01/01/2020 - "Syndromic microphthalmia-9 (MCOPS9) is a rare autosomal recessive disorder caused by mutations in STRA6, an important regulator of vitamin A and retinoic acid metabolism. "
2.	Retinoic Acid Receptors (Retinoic Acid Receptor)IBA 04/01/2019 - "A rare mutation of retinoic acid receptor-β associated with lethal neonatal Matthew-Wood syndrome."
3.	Tretinoin (Retinoic Acid)FDA LinkGeneric 01/01/2020 - "Syndromic microphthalmia-9 (MCOPS9) is a rare autosomal recessive disorder caused by mutations in STRA6, an important regulator of vitamin A and retinoic acid metabolism. "
4.	Proteins (Proteins, Gene)FDA Link 01/01/2023 - "Matthew-Wood syndrome is caused by inactivating mutations of a transmembrane protein gene STRA6 that transports vitamin A (retinol) from extracellular into intracellular spaces. "
5.	Fibroblast Growth Factors (Fibroblast Growth Factor)IBA 06/01/2007 - "These findings suggest a molecular basis for the prenatal manifestations of Matthew-Wood syndrome and suggest that phenotypic overlap with other associations may be due to genetic heterogeneity of elements common to the RA- and fibroblast growth factor-signaling cascades."
6.	retinol binding protein receptorIBA 06/01/2007 - "Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6."

Therapies and Procedures

1.	Palliative Care (Palliative Therapy) 10/04/2023 - "Perinatal palliative care for family with prenatal diagnosis of Matthew-Wood syndrome."