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Disease Profile
GRIN1-associated disorders
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.
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Age of onset
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ICD-10
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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)
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant; NDHMSD; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive;
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 | ||
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
Cerebral visual impairment | 0100704 | |
Hypoplasia of the |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Polymicrogyria |
More grooves in brain
|
0002126 |
0001250 | ||
Percent of people who have these symptoms is not available through HPO | ||
Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ] |
0001344 |
0000006 | ||
0000007 | ||
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
Chorea | 0002072 | |
Constipation | 0002019 | |
Dyskinesia |
Disorder of involuntary muscle movements
|
0100660 |
0001332 | ||
0002353 | ||
Epileptic |
0200134 | |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Frontal bossing | 0002007 | |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Global |
0001263 | |
Hyperkinetic movements |
Muscle spasms
|
0002487 |
Hyperreflexia |
Increased reflexes
|
0001347 |
Inability to walk | 0002540 | |
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 |
Involuntary movements |
Involuntary muscle contractions
|
0004305 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Myoclonus | 0001336 | |
Oculogyric crisis | 0010553 | |
Poor eye contact | 0000817 | |
0002650 | ||
Self-injurious behavior |
Self-injurious behaviour
|
0100716 |
Severe muscular hypotonia |
Severely decreased muscle tone
|
0006829 |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 |
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.
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.
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
- 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.
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant - PubMed is a searchable database of medical literature and lists journal articles that discuss GRIN1-associated disorders. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- Lemke JR, Geider K, Helbig KL, Heyne HO, Schultz H, Hentschel J, et al. Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Neurology. 2016 Jun 7; 86(23):2171-8.
- Rossi M, Chatron N, Labalme A, Ville D, Carneiro M, Edery P, et al. Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. Eur J Hum Genet. 2017 Feb; 25(3):376-380.
- Ohba C, Shiina M, Tohyama J, Haginoya K, Lerman-Sagie T, Okamoto N, et al. GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders. Epilepsia. 2015 Jun; 56(6):841-8.
- Chen W, Shieh C, Swanger SA, Tankovic A, Au M, McGuire M, et al. GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function. J Hum Genet. 2017 Jun; 62(6);589-597.