MPI-CDG (CDG-Ib)

Title

Other Names:

CDG 1B; CDG1B; Carbohydrate-deficient glycoprotein syndrome type 1B; CDG 1B; CDG1B; Carbohydrate-deficient glycoprotein syndrome type 1B; MPI deficiency; Protein-losing enteropathy-hepatic fibrosis syndrome; Saguenay Lac Saint Jean syndrome; SLSJ syndrome; Mannosephosphate isomerase deficiency; CDG gastrointestinal type; MPI-CDG (CDG-Ib); CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib See More

Categories:

Blood Diseases; Congenital and Genetic Diseases; Digestive Diseases; Blood Diseases; Congenital and Genetic Diseases; Digestive Diseases; Female Reproductive Diseases; Metabolic disorders; Nervous System Diseases; Skin Diseases See More

This disease is grouped under:

Congenital disorders of glycosylation

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 79319

Disease definition

MPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti-thrombine III levels), whereas neurological development and cognitive capacity is usually normal. The clinical course is variable even within families. The disease is caused by loss of function of the gene MPI (15q24.1).

Visit the Orphanet disease page for more resources.

Last updated: 7/20/2016

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Congenital hepatic fibrosis	Excessive buildup of connective tissue and scarring of liver at birth	0002612
Hepatic failure	Liver failure	0001399
Malabsorption	Intestinal malabsorption	0002024
30%-79% of people have these symptoms
Hypoglycemia	Low blood sugar	0001943
Lymphedema	Swelling caused by excess lymph fluid under skin	0001004
Percent of people who have these symptoms is not available through HPO
Abnormal bleeding	Bleeding tendency	0001892
Abnormal thrombosis	Abnormal blood clot	0001977
Autosomal recessive inheritance		0000007
Cirrhosis	Scar tissue replaces healthy tissue in the liver	0001394
Diarrhea	Watery stool	0002014
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Hepatic fibrosis		0001395
Hepatomegaly	Enlarged liver	0002240
Hyperinsulinemic hypoglycemia		0000825
Hypoalbuminemia	Low blood albumin	0003073
Lymphangiectasis		0031842
Muscular hypotonia	Low or weak muscle tone	0001252
Protein-losing enteropathy		0002243
Reduced antithrombin III activity		0001976
Reduced factor XI activity		0001929
Type I transferrin isoform profile		0003642
Villous atrophy		0011473
Vomiting	Throwing up	0002013

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 3/1/2019

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

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.

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Organizations 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: http://cdgcare.com/
Portugese Association for CDG and other Rare Metabolic Diseases (APCDG-DMR)
Website: http://www.apcdg.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).

Do you know of an organization? We want to hear from you.

Learn More 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

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

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

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