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
Corneal opacity		0007957
Decreased CSF/serum albumin ratio		0030978
Decreased sensory nerve conduction velocity		0003448
Delayed myelination		0012448
Elevated alpha-fetoprotein		0006254
Elevated hepatic transaminase	High liver enzymes	0002910
Global developmental delay		0001263
Hepatomegaly	Enlarged liver	0002240
Hyperhidrosis	Excessive sweating Increased sweating Profuse sweating Sweating Sweating profusely Sweating, increased [ more ]	0000975
Hyperkinesis	Muscle spasms	0002487
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Hyporeflexia	Decreased reflex response Decreased reflexes [ more ]	0001265
Increased serum lactate		0002151
Intrinsic hand muscle atrophy		0008954
Involuntary movements	Involuntary muscle contractions	0004305
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Muscular hypotonia	Low or weak muscle tone	0001252
Oral-pharyngeal dysphagia	Difficulty swallowing	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
Respiratory distress	Breathing difficulties Difficulty breathing [ more ]	0002098
Restlessness		0000711
Scoliosis	Abnormal curving of the spine	0002650
Seizures	Seizure	0001250
Single transverse palmar crease		0000954
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Percent of people who have these symptoms is not available through HPO
Alacrima	Absence of tears in the eyes Absent tear secretion [ more ]	0000522
Autosomal recessive inheritance		0000007
Corneal ulceration		0012804
Decreased CSF 5-hydroxyindolacetic acid		0025455
Decreased CSF albumin		0025458
Fever		0001945
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
High myoinositol in brain by MRS		0025460
Myoclonus		0001336
Pain		0012531
Perivascular spaces		0012520
Polyneuropathy	Peripheral nerve disease	0001271
Short foot	Short feet Small feet [ more ]	0001773
Small hand	Disproportionately small hands	0200055

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Last updated: 12/1/2018

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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/

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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

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.

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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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