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

ALG3-CDG (CDG-Id)


Other Names:
CDG 1D; CDG1D; Carbohydrate-deficient glycoprotein syndrome type IV (formerly); CDG 1D; CDG1D; Carbohydrate-deficient glycoprotein syndrome type IV (formerly); CDGS4 (formerly); ALG3-CDG (CDG-Id); CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG syndrome type Id; CDG-Id; Congenital disorder of glycosylation type 1d; ALG3-CDG; Carbohydrate deficient glycoprotein syndrome type Id; Congenital disorder of glycosylation type Id; Mannosyltransferase 6 deficiency 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: 79321

Definition
A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3).

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

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
80%-99% of people have these symptoms
Abnormality of vision
Abnormality of sight
Vision issue
[ more ] 		0000504
Global developmental delay 0001263
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Muscular hypotonia
Low or weak muscle tone
0001252
Seizure 0001250
Percent of people who have these symptoms is not available through HPO
Adducted thumb
Inward turned thumb
0001181
Arthrogryposis multiplex congenita 0002804
Autosomal recessive inheritance 0000007
Bifid uvula 0000193
Bulbous nose 0000414
Cerebellar atrophy
Degeneration of cerebellum
0001272
Cerebral atrophy
Degeneration of cerebrum
0002059
Clinodactyly
Permanent curving of the finger
0030084
Clinodactyly of the 5th toe 0001864
Decreased light- and dark-adapted electroretinogram amplitude 0000654
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] 		0005280
Diarrhea
Watery stool
0002014
Epicanthus
Eye folds
Prominent eye folds
[ more ] 		0000286
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Food intolerance 0012537
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Hyperreflexia
Increased reflexes
0001347
Hypertonia 0001276
Hypsarrhythmia 0002521
Iris coloboma
Cat eye
0000612
Joint contracture of the hand 0009473
Long fingers 0100807
Macrotia
Large ears
0000400
Muscular hypotonia of the trunk
Low muscle tone in trunk
0008936
Nail dysplasia
Atypical nail growth
0002164
Optic atrophy 0000648
Psychomotor retardation 0025356
Severely reduced visual acuity
Marked vision impairment
Severe visual impairment
Severely impaired vision
[ more ] 		0001141
Small nail
Small nails
0001792
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] 		0001762
Type I transferrin isoform profile 0003642
Villous atrophy 0011473
Vomiting
Throwing up
0002013
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] 		0000431
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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

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

Social Networking Websites

  • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

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.
    Orphanet
    Orphanet
  • PubMed is a searchable database of medical literature and lists journal articles that discuss ALG3-CDG (CDG-Id). Click on the link to view a sample search on this topic.

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