National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

CAD-CDG


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:
This disease is grouped under:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

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

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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Last updated: 7/1/2020

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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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