MCID: GMP001
MIFTS: 2

Gmppa-Cdg

Categories: Rare diseases

Aliases & Classifications for Gmppa-Cdg

MalaCards integrated aliases for Gmppa-Cdg:

Name: Gmppa-Cdg 54

Classifications:



Summaries for Gmppa-Cdg

NIH Rare Diseases : 54 GMPPA-congenital disorder of glycosylation (GMPPA-CDG) is a rare disease, part of the group of congenital disorders of glycosylation. It is characterized by lack of tears (alacrima), difficulty in swallowing due to problems in the esophagus muscle (achalasia), and intellectual disability, starting at birth or in early infancy. More variable features include low muscle tone (hypotonia), gait abnormalities, differently sized pupils (anisocoria), and vision or hearing problems. The disorder is very similar to the triple A syndrome, but patients with AAMR do not have adrenal insufficiency. It is caused by a mutation in the GMPPA gene and is inherited in an autosomal recessive way.  Treatment is directed to the symptoms and may involve using artificial tears, medication, balloon dilation or surgery to correct the defect in the esophagus, and physical therapy.

MalaCards based summary : Gmppa-Cdg

Related Diseases for Gmppa-Cdg

Symptoms & Phenotypes for Gmppa-Cdg

Drugs & Therapeutics for Gmppa-Cdg

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Anatomical Context for Gmppa-Cdg

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Variations for Gmppa-Cdg

Expression for Gmppa-Cdg

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Pathways for Gmppa-Cdg

GO Terms for Gmppa-Cdg

Sources for Gmppa-Cdg

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