Microphthalmia, Syndromic 9 (MCOPS9)

Alias:

Matthew-Wood Syndrome

Spear Syndrome

Microphthalmia, Isolated, with Coloboma 8

Anophthalmia/microphthalmia and Pulmonary Hypoplasia

Anophthalmia-Pulmonary Hypoplasia Syndrome

Anophthalmia, Clinical, with Mild Facial Dysmorphism and Variable Malformations of the Lung, Heart, and Diaphragm

Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect Syndrome

Pulmonary Hypoplasia-Diaphragmatic Hernia-Anophthalmia-Cardiac Defect

Pulmonary Agenesis, Microphthalmia, and Diaphragmatic Defect

Syndromic Microphthalmia 9

Pdac Syndrome

Mcops9

Pdac

Pmd

Clinical Anophthalmia Mild Facial Dysmorphism Lung Heart and Diaphragm Malformations

Pulmonary Agenesis Microphthalmi and Diaphragmatic Defect

Microphthalmia, Isolated, with Coloboma, 8

Isolated Colobomatous Microphthalmia 8

Anophthalmia with Pulmonary Hypoplasia

Anophthalmia and Pulmonary Hypoplasia

Microphthalmia Syndromic, Type 9

Microphthalmia, Syndromic, 9

Mcopcb8

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Microphthalmia, Syndromic 9, also known as matthew-wood syndrome, is related to fryns microphthalmia syndrome and microphthalmia, syndromic 12. An important gene associated with Microphthalmia, Syndromic 9 is STRA6 (Signaling Receptor And Transporter Of Retinol STRA6), and among its related pathways/superpathways are Signal Transduction and Olfactory Signaling Pathway. The drugs Benzocaine and Tannic acid have been mentioned in the context of this disorder. Affiliated tissues include eye and lung, and related phenotypes are intellectual disability and anophthalmia

Related ID：

MALACARDS：MCR256

OMIM：601186

MESH：C537768