Don’t fight ALG1-CDG (CDG-Ik) alone.
Find your community on the free RareGuru App.The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 79327
Definition
A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
80%-99% of people have these symptoms.
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Cerebral hemorrhage |
Global developmental delay |
Abnormal thrombocyte morphology |
Microcephaly |
Seizures |
30%-79% of people have these symptoms.
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Abnormality of immune system physiology |
Hepatic failure |
Prominent median palatal raphe |
Hypogonadism |
Nephropathy |
Hypertrophic cardiomyopathy |
An unknown % of people have these symptoms.
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