ALG1-CDG (CDG-Ik)
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Description
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
Symptoms
Symptoms and their Known Frequencies
80%-99% of people have these symptoms.
Click on a symptom to see definitions for associated terms.
| 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.
Click on a symptom to see definitions for associated terms.
Colorado Springs, CO, 80937, Toll Free: (866) 295-7910 Email: info@cdgcare.com Url: http://cdgcare.com/ Name: Portugese Association for CDG and other Rare Metabolic Diseases APCDG-DMR Url: http://www.apcdg.com/
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