CAD-CDG

Title

Other Names:

CDG1Z; Congenital disorder of glycosylation type 1z; CDG syndrome type Iz; CDG1Z; Congenital disorder of glycosylation type 1z; CDG syndrome type Iz; Congenital disorder of glycosylation type Iz; CDG-Iz; Carbohydrate deficient glycoprotein syndrome type Iz; Early infantile epileptic encephalopathy-50 See More

Categories:

Congenital and Genetic Diseases

This disease is grouped under:

Congenital disorders of glycosylation

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 448010

Definition

CAD-CDG is a rare congenital disorder of glycosylation caused by mutations in the CAD gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood.

Visit the Orphanet disease page for more resources.

Last updated: 7/1/2018

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
Percent of people who have these symptoms is not available through HPO
Abnormal glycosylation		0012345
Acanthocytosis		0001927
Anemia	Low number of red blood cells or hemoglobin	0001903
Anisopoikilocytosis		0004823
Autosomal recessive inheritance		0000007
Brain atrophy	Brain degeneration Brain wasting [ more ]	0012444
Broad-based gait	Wide based walk	0002136
Developmental regression	Loss of developmental milestones Mental deterioration in childhood [ more ]	0002376
Epileptic encephalopathy		0200134
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Global developmental delay		0001263
Hyperammonemia	High blood ammonia levels	0001987
Infantile onset	Onset in first year of life Onset in infancy [ more ]	0003593
Poor speech		0002465
Progressive	Worsens with time	0003676
Renal tubular acidosis	Accumulation of acid in body due to kidney problem	0001947
Schistocytosis		0001981
Status epilepticus	Repeated seizures without recovery between them	0002133

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 3/1/2020

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Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Portugese Association for CDG and other Rare Metabolic Diseases (APCDG-DMR)
Website: http://www.apcdg.com/

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Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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