Rare Oncology News

Disease Profile

PMM2-CDG (CDG-Ia)

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.

Unknown

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 1A; CDG1A; Jaeken syndrome;

Categories

Congenital and Genetic Diseases; Digestive Diseases; Metabolic disorders;

Summary

Congenital disorder of glycosylation type Ia (CDG-Ia) is an inherited condition that affects many parts of the body. The type and severity of problems associated with CDG-Ia vary widely among affected individuals, sometimes even among members of the same family. Signs and symptoms are typically evident in infancy and can include hypotonia, inverted nipples, an abnormal distribution of fat, strabismus, developmental delay, failure to thrive, seizures, and distinctive facial features. About 20 percent of affected infants do not survive the first year of life due to multiple organ failure. The most severe cases of CDG-Ia are characterized by hydrops fetalis. This condition is caused by mutations in the PMM2 gene and is inherited in an autosomal recessive fashion.[1]

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
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Upslanted palpebral fissure
Upward slanting of the opening between the eyelids
0000582
30%-79% of people have these symptoms
Abnormal subcutaneous fat tissue distribution
Abnormal fat tissue distribution below the skin
0007552
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Cerebellar hypoplasia
Small cerebellum
Underdeveloped cerebellum

[ more ]

0001321
Delayed myelination
0012448
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
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Esotropia
Inward turning cross eyed
0000565
Feeding difficulties
Feeding problems
Poor feeding

[ more ]

0011968
Global developmental delay
0001263
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Hyporeflexia
Decreased reflex response
Decreased reflexes

[ more ]

0001265
Inverted nipples
0003186
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness

[ more ]

0001388
Kyphoscoliosis
0002751
Lipodystrophy
Inability to make and keep healthy fat tissue
0009125
Long face
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face

[ more ]

0000276
Long fingers
0100807
Long philtrum
0000343
Mandibular prognathia
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw

[ more ]

0000303
Muscular hypotonia of the trunk
Low muscle tone in trunk
0008936
Osteopenia
0000938
Osteoporosis
0000939
Pes planus
Flat feet
Flat foot

[ more ]

0001763
Prominent forehead
Pronounced forehead
Protruding forehead

[ more ]

0011220
Prominent nose
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose

[ more ]

0000448
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw

[ more ]

0000278
Seizure
0001250
Thin upper lip vermilion
Thin upper lip
0000219
Vomiting
Throwing up
0002013
Wide mouth
Broad mouth
Large mouth

[ more ]

0000154
5%-29% of people have these symptoms
Abnormal liver parenchyma morphology
0030146
Abnormal renal tubule morphology
0000091
Aplasia of the ovary
Absent ovary
0010463
Aspiration pneumonia
0011951
Ataxia
0001251
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Decreased testicular size
Small testes
Small testis

[ more ]

0008734
Elevated hepatic transaminase
High liver enzymes
0002910
Enlarged cisterna magna
0002280
Failure to thrive
Faltering weight
Weight faltering

[ more ]

0001508
Fever
0001945
Growth hormone excess
0000845
Hepatic fibrosis
0001395
Hyperinsulinemia
0000842
Hyperplastic labia majora
0012882
Hypoalbuminemia
Low blood albumin
0003073
Hypogonadotropic hypogonadism
0000044
Increased circulating prolactin concentration
0000870
Increased thyroid-stimulating hormone level
0002925
Insulin resistance
Body fails to respond to insulin
0000855
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Macrotia
Large ears
0000400
Multiple joint contractures
0002828
Multiple renal cysts

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.

      Where to Start

      • Genetics Home Reference (GHR) contains information on PMM2-CDG (CDG-Ia). This website is maintained by the National Library of Medicine.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        In-Depth Information

        • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
        • 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 PMM2-CDG (CDG-Ia). Click on the link to view a sample search on this topic.

          References

          1. Congenital disorder of glycosylation type Ia. Genetics Home Reference. July 2010; https://ghr.nlm.nih.gov/condition/congenital-disorder-of-glycosylation-type-ia. Accessed 9/21/2011.

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