ALG12-CDG
Synonyms: CDG syndrome type Ig | CDG-Ig | CDG1G | Carbohydrate deficient glycoprotein syndrome type Ig | Congenital disorder of glycosylation type 1g | Congenital disorder of glycosylation type Ig | Mannosyltransferase 8 deficiency
A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead large ears thin upper lip) generalized hypotonia feeding difficulties moderate to severe developmental delay progressive microcephaly frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males skeletal anomalies seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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ALG12-CDG?
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Advocacy Organizations
CDG CARE
Our mission is to promote greater awareness and understanding of CDG & NGLY1-Deficiency, to provide information and support to families affected by CDG & NGLY1, and to advocate for and fund scientific research to advance the diagnosis and treatment of CDG & NGLY1-Deficiency.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Clinical Trials
For a list of clinical trials in this disease area, please click here.