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

MGAT2-CDG (CDG-IIa)


Other Names:
CDG 2A; CDG2A; Carbohydrate-deficient glycoprotein syndrome type 2; CDG 2A; CDG2A; Carbohydrate-deficient glycoprotein syndrome type 2; CDGS2; Congenital disorder of glycosylation, type IIa ; Congenital disorder of glycosylation type IIA; CDG-IIa; ALKURAYA SYNDROME; MENTAL RETARDATION, GROWTH RETARDATION, PROMINENT COLUMELLA, AND OPEN MOUTH; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE II, FORMERLY; CDGS2, FORMERLY; CDG syndrome type IIa; N-acetylglucosaminyltransferase 2 deficiency; Congenital disorder of glycosylation type 2a; Carbohydrate deficient glycoprotein syndrome type IIa; MGAT2-CDG See More
Categories:
This disease is grouped under:
Congenital disorder of glycosylation with developmental anomaly; Congenital disorders of glycosylation
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 79329

Definition
MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).

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
Intellectual disability, progressive
Mental retardation, progressive
Progressive mental retardation
[ more ] 		0006887
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] 		0010864
Tall stature
Increased body height
0000098
5%-29% of people have these symptoms
Hirsutism
Excessive hairiness
0001007
Sparse hair 0008070
Percent of people who have these symptoms is not available through HPO
Abnormal isoelectric focusing of serum transferrin 0003160
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ] 		0000164
Abnormality of the rib cage 0001547
Aggressive behavior
Aggression
Aggressive behaviour
Aggressiveness
[ more ] 		0000718
Autosomal recessive inheritance 0000007
Brachycephaly
Short and broad skull
0000248
Coxa valga 0002673
Diastema
Gap between teeth
0000699
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Everted lower lip vermilion
Drooping lower lip
Outward turned lower lip
[ more ] 		0000232
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Gingival overgrowth
Gum enlargement
0000212
Hypertonia 0001276
Long eyelashes
Increased length of eyelashes
Unusually long eyelashes
[ more ] 		0000527
Low hanging columella 0009765
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ] 		0000256
Macrodontia
Increased width of tooth
0001572
Macrotia
Large ears
0000400
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Midfrontal capillary hemangioma 0007466
Open mouth
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ] 		0000194
Osteopenia 0000938
Pectus excavatum
Funnel chest
0000767
Pes planus
Flat feet
Flat foot
[ more ] 		0001763
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Postnatal growth retardation
Growth delay as children
0008897
Prominent nasal bridge
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ] 		0000426
Protruding tongue
Prominent tongue
Tongue sticking out of mouth
[ more ] 		0010808
Proximal placement of thumb
Attachment of thumb close to wrist
0009623
Reduced antithrombin III activity 0001976
Reduced factor IX activity 0011858
Reduced factor XI activity 0001929
Reduced factor XII activity 0004841
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] 		0000278
Seizure 0001250
Self-mutilation
Deliberate self-harm
Self mutilation
[ more ] 		0000742
Sensorineural hearing impairment 0000407
Short neck
Decreased length of neck
0000470
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Slender long bone
Long bones slender
Thin long bones
[ more ] 		0003100
Stereotypy
Repetitive movements
Repetitive or self-injurious behavior
[ more ] 		0000733
Thick eyebrow
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ] 		0000574
Thin vermilion border
Decreased volume of lip
Thin lips
[ more ] 		0000233
Thoracolumbar kyphoscoliosis 0003423
Type II transferrin isoform profile 0012301
Unsteady gait
Unsteady walk
0002317
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Wide mouth
Broad mouth
Large mouth
[ more ] 		0000154
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Last updated: 7/1/2020

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 MGAT2-CDG (CDG-IIa). Click on the link to view a sample search on this topic.

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