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Disease Profile
Deficiency of N-glycanase 1
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.
#N/A
Age of onset
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ICD-10
#N/A
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
Congenital disorder of deglycosylation;CDDG; Congenital disorder of glycosylation type IV; CDG1V; Alacrimia-choreoathetosis-liver dysfunction syndrome;
Summary
Deficiency of N-glycanase 1 (NGLY1 deficiency) is a complex neurological
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
|
|---|---|---|
| 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 |
0006254 | |
| Elevated brain choline level by MRS | 0012706 | |
| Elevated hepatic transaminase |
High liver enzymes
|
0002910 |
| Facial |
Decreased facial muscle tone
Low facial muscle tone
Reduced facial muscle tone
[ more ] |
0000297 |
| Global |
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 | |
|
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
| Oral-pharyngeal |
0200136 | |
| 0000939 | ||
| Pain insensitivity | 0007021 | |
|
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 | |
| 0002650 | ||
| 0001250 | ||
| Short foot |
Short feet
Small feet
[ more ] |
0001773 |
| Single transverse palmar crease | 0000954 | |
|
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 |
| 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 |
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: https://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/
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.
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. https://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; https://omim.org/entry/615273. Accessed 9/9/2015.
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