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ALG13-CDG


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Other Names:
CDG syndrome type Is; CDG-Is; CDG1S; CDG syndrome type Is; CDG-Is; CDG1S; Congenital disorder of glycosylation type 1s; Congenital disorder of glycosylation type Is; Congenital disorder of glycosylation, type Is See More
Categories:
Congenital and Genetic Diseases; Digestive Diseases; Metabolic disorders; Congenital and Genetic Diseases; Digestive Diseases; Metabolic disorders; Nervous System Diseases See More
This disease is grouped under:
Congenital disorders of glycosylation

Summary Summary


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

Orpha Number: 324422

Definition
A form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).

Visit the Orphanet disease page for more resources.
Last updated: 7/1/2016

Symptoms Symptoms


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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.

Showing of 38 |
Medical Terms Other Names
Learn More:
HPO ID
100% of people have these symptoms
Infantile spasms 0012469
30%-79% of people have these symptoms
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ]
0001290
Hypsarrhythmia 0002521
Long philtrum 0000343
5%-29% of people have these symptoms
Abnormal facial shape
Unusual facial appearance
0001999
Abnormal pyramidal sign 0007256
Abnormality of lateral ventricle 0030047
Adducted thumb
Inward turned thumb
0001181
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
0000463
Autism 0000717
Clumsiness 0002312
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
0100543
Decreased body weight
Decreased weight
Low body weight
Low weight
Weight less than 3rd percentile
[ more ]
0004325
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ]
0000750
Flexion contracture
Flexed joint that cannot be straightened
0001371
Global brain atrophy
Generalized brain degeneration
0002283
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ]
0000316
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Poor eye contact 0000817
Poor head control 0002421
Short chin
Decreased height of chin
Short lower third of face
[ more ]
0000331
Percent of people who have these symptoms is not available through HPO
Abnormality of extrapyramidal motor function 0002071
Cerebral atrophy
Degeneration of cerebrum
0002059
Delayed myelination 0012448
Global developmental delay 0001263
Hepatomegaly
Enlarged liver
0002240
Horizontal nystagmus 0000666
Infantile onset
Onset in first year of life
Onset in infancy
[ more ]
0003593
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ]
0010864
Low-set ears
Low set ears
Lowset ears
[ more ]
0000369
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
0000252
Optic atrophy 0000648
Recurrent infections
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ]
0002719
Seizure 0001250
Type I transferrin isoform profile 0003642
X-linked dominant inheritance 0001423
X-linked recessive inheritance 0001419
Showing of 38 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Organizations Organizations


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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

  • CDG CARE
    PO Box 38832
    Colorado Springs, CO 80937
    Toll-free: (866) 295-7910
    E-mail: info@cdgcare.com
    Website: http://cdgcare.com/
  • Portugese Association for CDG and other Rare Metabolic Diseases (APCDG-DMR)
    Website: http://www.apcdg.com/

Social Networking Websites

  • Visit the following Facebook groups related to ALG13-CDG:
    ALG13 mutation
Do you know of an organization? We want to hear from you.

Learn More Learn More


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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

  • 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.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
You can help advance
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You can help advance rare disease research!
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