Rare Medical 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.
<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)

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.
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.

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
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
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
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

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

    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.