SRD5A3-CDG

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Synonyms: CDG syndrome type Iq | CDG-Iq | CDG1Q | Congenital disorder of glycosylation type 1q | Congenital disorder of glycosylation type Iq

SRD5A3-CDG is a rare non X-linked congenital disorder of glycosylation due to steroid 5 alpha reductase type 3 deficiency characterized by a highly variable phenotype typically presenting with severe visual impairment variable ocular anomalies (such as optic nerve hypoplasia/atrophy iris and optic nerve coloboma congenital cataract glaucoma) intellectual disability cerebellar abnormalities nystagmus hypotonia ataxia and/or ichthyosiform skin lesions. Other reported manifestations include retinitis pigmentosa kyphosis congenital heart defects hypertrichosis and abnormal coagulation.

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 June 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.

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Clinical Trials

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