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Disease Profile

DDOST-CDG (CDG-Ir)

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

E77.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Congenital disorder of glycosylation, type Ir ; CDG syndrome type Ir; CDG-Ir;

Categories

Congenital and Genetic Diseases; Digestive Diseases; Metabolic disorders;

Summary

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

Orpha Number: 300536

Definition
DDOST-CDG is a form of congenital disorders of N-linked glycosylation characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction. The disease is caused by mutations in the gene DDOST (1p36.1).

Visit the Orphanet disease page for more resources.

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.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the coagulation cascade
0003256
Accelerated skeletal maturation
Advanced bone age
Early bone maturation

[ more ]

0005616
CNS hypomyelination
0003429
Constipation
0002019
Elevated hepatic transaminase
High liver enzymes
0002910
Esotropia
Inward turning cross eyed
0000565
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn

[ more ]

0002020
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Hepatic steatosis
Fatty infiltration of liver
Fatty liver

[ more ]

0001397
Neurodevelopmental delay
0012758
Neurological speech impairment
Speech disorder
Speech impairment
Speech impediment

[ more ]

0002167
Oromotor apraxia
0007301
Osteopenia
0000938
Recurrent ear infections
Frequent ear infections
0410018
Seizure
0001250
Short stature
Decreased body height
Small stature

[ more ]

0004322
Tremor
0001337
Type I transferrin isoform profile
0003642
5%-29% of people have these symptoms
Dry skin
0000958
Lipodystrophy
Inability to make and keep healthy fat tissue
0009125
1%-4% of people have these symptoms
Nephrotic range proteinuria
0012593
Primary hypothyroidism
0000832
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Decreased liver function
Liver dysfunction
0001410
Global developmental delay
0001263
Infantile onset
Onset in first year of life
Onset in infancy

[ more ]

0003593
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486

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

    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

    • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
    • 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.