ALG12-CDG

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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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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.

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

Portuguese Association for CDG

The APCDG aims to holistically support families affected by a CDG. Our mission based on the pillars of disease awareness, education, research and to subsequently, speed up the development of therapies that will significantly benefit patients and their family members. We believe that only by adopting a patient-centric approach we will find ways to improve their quality of life.

Clinical Trials

For a list of clinical trials in this disease area, please click here.