Deficiency of N-glycanase 1

Title

Other Names:

Congenital disorder of deglycosylation;CDDG; Congenital disorder of glycosylation type IV; CDG1V; Alacrimia-choreoathetosis-liver dysfunction syndrome; Congenital disorder of deglycosylation;CDDG; Congenital disorder of glycosylation type IV; CDG1V; Alacrimia-choreoathetosis-liver dysfunction syndrome; NGLY1 deficiency See More

Summary Summary

Deficiency of N-glycanase 1 (NGLY1 deficiency) is a complex neurological syndrome in which there is a deficiency of an enzyme known as N-glycanase 1 (NGLY1). This enzyme normally helps the body remove proteins that are not functioning properly. The typical features of NGLY1 deficiency include abnormal tear production, a movement disorder (choreoathetosis), and liver disease. Additional features may include developmental delay, hypotonia (weak muscle tone), peripheral neuropathy , EEG abnormalities, and a small head size (microcephaly). The condition is caused by mutations in the N-glycanase 1 gene (NGLY1 gene) and is inherited in an autosomal recessive manner.^[1]^[2]

Last updated: 9/9/2015

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
1%-4% of people have these symptoms
Anhidrosis	Lack of sweating Sweating dysfunction [ more ]	0000970
Central sleep apnea		0010536
Corneal opacity		0007957
Decreased CSF/serum albumin ratio		0030978
Decreased sensory nerve conduction velocity		0003448
Delayed myelination		0012448
Elevated alpha-fetoprotein		0006254
Elevated brain choline level by MRS		0012706
Elevated hepatic transaminase	High liver enzymes	0002910
Facial hypotonia	Decreased facial muscle tone Low facial muscle tone Reduced facial muscle tone [ more ]	0000297
Global developmental delay		0001263
Hepatomegaly	Enlarged liver	0002240
High myoinositol in brain by MRS		0025460
Hyperhidrosis	Excessive sweating Increased sweating Profuse sweating Sweating Sweating profusely Sweating, increased [ more ]	0000975
Hyperkinetic movements	Muscle spasms	0002487
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Hyporeflexia	Decreased reflex response Decreased reflexes [ more ]	0001265
Impaired oral bolus formation		0031146
Impaired oropharyngeal swallow response		0031162
Increased serum lactate		0002151
Intrinsic hand muscle atrophy		0008954
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Oral-pharyngeal dysphagia		0200136
Osteoporosis		0000939
Pain insensitivity		0007021
Ptosis	Drooping upper eyelid	0000508
Recurrent respiratory infections	Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ]	0002205
Reduced brain glutamine level by MRS		0030980
Reduced brain N-acetyl aspartate level by MRS		0012708
Respiratory distress	Breathing difficulties Difficulty breathing [ more ]	0002098
Restlessness		0000711
Scoliosis		0002650
Seizure		0001250
Short foot	Short feet Small feet [ more ]	0001773
Single transverse palmar crease		0000954
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Suck reflex		0030906
Percent of people who have these symptoms is not available through HPO
Action tremor		0002345
Alacrima	Absence of tears in the eyes Absent tear secretion [ more ]	0000522
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Athetosis	Involuntary writhing movements in fingers, hands, toes, and feet	0002305
Autosomal recessive inheritance		0000007
Brachycephaly	Short and broad skull	0000248
Chorea		0002072
Corneal ulceration		0012804
Decreased body weight	Decreased weight Low body weight Low weight Weight less than 3rd percentile [ more ]	0004325
Decreased CSF 5-hydroxyindolacetic acid		0025455
Decreased CSF albumin concentration		0025458
Dysmetria	Lack of coordination of movement	0001310
Fever		0001945
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Infantile onset	Onset in first year of life Onset in infancy [ more ]	0003593
Myoclonus		0001336
Narrow face	Decreased breadth of face Decreased width of face [ more ]	0000275
Pain		0012531
Perivascular spaces		0012520
Polyneuropathy	Peripheral nerve disease	0001271
Small hand	Disproportionately small hands	0200055
Sunken cheeks	Depressed cheeks Hollow cheeks [ more ]	0009938

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

Last updated: 7/1/2020

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Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Deficiency of N-glycanase 1. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

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/
Grace Science Foundation
Website: https://gracescience.org/
Contact form: https://gracescience.org/contact/
NGLY1.org
175 S Main Street, Ste 500
Salt Lake City, UT 84111
Telephone: (650) 646-4591
E-mail: info@ngly1.org
Website: https://www.ngly1.org/
Portugese Association for CDG and other Rare Metabolic Diseases (APCDG-DMR)
Website: http://www.apcdg.com/

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 Deficiency of N-glycanase 1. This website is maintained by the National Library of Medicine.
NGLY1.org has developed a handbook for patients, families and healthcare providers entitled "About NGLY1 Deficiency." NGLY1.org is a foundation dedicated to NGLY1 deficiency research, awareness and support.

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.

News & Events News & Events

News

NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020

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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.

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References References

Enns, Gregory, et al.. Mutations in NGLY1 Cause an Inherited Disorder of the Endoplasmic Reticulum-Associated Degradation (ERAD) Pathway. October, 2014; 16 (10):751-758. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4243708/. Accessed 9/9/2015.
CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG. Online Mendelian Inheritance in Man (OMIM) # 615273. June 9, 2015; http://omim.org/entry/615273. Accessed 9/9/2015.

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