Rare Neurology News
Advertisement
Disease Profile
DEAF1-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.
#N/A
Age of onset
#N/A
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)
DEAF1 mutations; DEAF1-associated neurodevelopmental disorder; DEAF1 related disorders;
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
DEAF1-related disorders are neurologic diseases that mainly present with
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
|
---|---|---|
80%-99% of people have these symptoms | ||
Brain |
0410263 | |
Constipation | 0002019 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Poor eye contact | 0000817 | |
Severe global |
0011344 | |
Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ] |
0002360 |
30%-79% of people have these symptoms | ||
Abnormality of pain sensation | 0010832 | |
Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ] |
0000718 |
0000717 | ||
Broad-based gait |
Wide based walk
|
0002136 |
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Gait |
Inability to coordinate movements when walking
|
0002066 |
Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Mood swings | 0000720 | |
Recurrent infections |
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ] |
0002719 |
Tip-toe gait |
Walking on tiptoes
|
0030051 |
5%-29% of people have these symptoms | ||
Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ] |
0001344 |
Agitation | 0000713 | |
Clumsiness | 0002312 | |
Drooling |
Dribbling
|
0002307 |
Gait imbalance |
Abnormality of balance
Abnormality of equilibrium
Imbalanced walk
[ more ] |
0002141 |
Involuntary movements |
Involuntary muscle contractions
|
0004305 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
Status epilepticus |
Repeated seizures without recovery between them
|
0002133 |
Unsteady gait |
Unsteady walk
|
0002317 |
Waddling gait |
'Waddling' gait
Waddling walk
[ more ] |
0002515 |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Dyskinesia |
Disorder of involuntary muscle movements
|
0100660 |
0002353 | ||
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Global developmental delay | 0001263 | |
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
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
-
Simons Searchlight
Toll-free: +1-855-329-5638
Fax: +1-570-214-7327
E-mail: [email protected]
Website: https://www.simonssearchlight.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.
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.
Online Mendelian Inheritance in Man (OMIM)
Online Mendelian Inheritance in Man (OMIM) - Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
References
- Rajab A, Schuelke M, Gill E, Zwirner A, Seifert F, Morales Gonzalez S& Knierim E. Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy. J Med Genet. September, 2015; 52(9):607-11. https://www.ncbi.nlm.nih.gov/pubmed/26048982.
- Chen L, Jensik PJ, Alaimo JT, et al. Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. Human Mutation. 2017; 38:1774–1785. https://onlinelibrary.wiley.com/doi/10.1002/humu.23339/abstract.
- DEAF1. Human Diseases Genes. https://humandiseasegenes.nl/deaf1/.
- DEAF1 gene. Genetics Home Reference. February 13, 2018; https://ghr.nlm.nih.gov/gene/DEAF1.