Rare Nephrology News
Disease Profile
MGAT2-CDG (CDG-IIa)
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.
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
Age of onset
Infancy
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
CDG 2A; CDG2A; Carbohydrate-deficient glycoprotein syndrome type 2;
Categories
Congenital and Genetic Diseases; Heart Diseases; Metabolic disorders;
Summary
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
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.
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 | ||
|
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 | |
| Abnormal rib cage morphology |
Abnormality of the rib cage
|
0001547 |
| Abnormality of the dentition |
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ] |
0000164 |
| Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ] |
0000718 |
| 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 |
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 |
|
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 |
| 0001250 | ||
| Self-mutilation |
Deliberate self-harm
Self mutilation
[ more ] |
0000742 |
| Sensorineural hearing impairment | 0000407 | |
| Short neck |
Decreased length of neck
|
0000470 |
|
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 |
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
-
CDG CARE
PO Box 38832
Colorado Springs, CO 80937
Toll-free: (866) 295-7910
E-mail: info@cdgcare.com
Website: https://cdgcare.com/
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).
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.
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.