ALG12-CDG (CDG-Ig)

Title

Other Names:

CDG 1G; CDG1G; ALG12-CDG (CDG-Ig); CDG 1G; CDG1G; ALG12-CDG (CDG-Ig); ALG12-congenital disorder of glycosylation; Congenital disorder of glycosylation, type Ig ; CDG syndrome type Ig; CDG-Ig; Carbohydrate deficient glycoprotein syndrome type Ig; Congenital disorder of glycosylation type 1g; Mannosyltransferase 8 deficiency; ALG12-CDG; Congenital disorder of glycosylation type Ig See More

Categories:

Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases

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: 79324

Definition

A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33).

Visit the Orphanet disease page for more resources.

Last updated: 7/1/2016

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
Cognitive impairment	Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ]	0100543
Muscular hypotonia	Low or weak muscle tone	0001252
30%-79% of people have these symptoms
Abnormality of immune system physiology		0010978
Abnormality of the genital system	Genital abnormalities Genital abnormality Genital anomalies Genital defects [ more ]	0000078
Percent of people who have these symptoms is not available through HPO
Abnormal facial shape	Unusual facial appearance	0001999
Abnormality of the pinna	Abnormally shaped ears Auricular malformation Deformed ears Malformed ears [ more ]	0000377
Autosomal recessive inheritance		0000007
Butterfly vertebrae		0003316
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Decreased circulating antibody level		0004313
Edema	Fluid retention Water retention [ more ]	0000969
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Feeding difficulties	Feeding problems Poor feeding [ more ]	0011968
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Global developmental delay		0001263
Hypocalcemia	Low blood calcium levels	0002901
Hypoplasia of the radius	Underdeveloped outer large forearm bone	0002984
Hypospadias		0000047
Inverted nipples		0003186
Micropenis	Short penis Small penis [ more ]	0000054
Midface retrusion	Decreased size of midface Midface deficiency Underdevelopment of midface [ more ]	0011800
Patent ductus arteriosus		0001643
Patent foramen ovale		0001655
Polyhydramnios	High levels of amniotic fluid	0001561
Progressive microcephaly	Progressively abnormally small cranium Progressively abnormally small skull [ more ]	0000253
Prolonged partial thromboplastin time		0003645
Psychomotor retardation		0025356
Recurrent respiratory infections	Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ]	0002205
Respiratory tract infection	Respiratory infection	0011947
Retinal detachment	Detached retina	0000541
Rhizomelia	Disproportionately short upper portion of limb	0008905
Sandal gap	Gap between 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and second toe [ more ]	0001852
Scrotal hypoplasia	Smaller than typical growth of scrotum	0000046
Sensorineural hearing impairment		0000407
Short femur	Short thighbone	0003097
Short humerus	Short long bone of upper arm Short upper arms [ more ]	0005792
Short philtrum		0000322
Short ribs		0000773
Short tibia	Short shinbone Short skankbone [ more ]	0005736
Small for gestational age	Birth weight less than 10th percentile Low birth weight [ more ]	0001518
Talipes equinovarus	Club feet Club foot Clubfeet Clubfoot [ more ]	0001762
Thin upper lip vermilion	Thin upper lip	0000219
Wide nose	Broad nose Increased breadth of nose Increased nasal breadth Increased nasal width Increased width of nose [ more ]	0000445

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

Last updated: 9/1/2020

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.

Where to Start

Genetics Home Reference (GHR) contains information on ALG12-CDG (CDG-Ig). This website is maintained by the National Library of Medicine.

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.
PubMed is a searchable database of medical literature and lists journal articles that discuss ALG12-CDG (CDG-Ig). Click on the link to view a sample search on this topic.

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