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Disease Profile

DEAF1-associated disorders

Prevalence
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.

Unknown

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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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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 intellectual disability, speech impairment and motor developmental delay.[1][2] Additional features that have being described include seizures, brain malformations, behavioral problems, autism, stomach and/or intestinal problems, and skeletal problems (flat foot or hip dislocation). Some people with DEAF1-related disorders may also have some features that resemble another disease known as Smith-Magenis syndrome, such as intellectual disability, dysmorphic features, and sleep disturbances.[1][2][3]. DEAF1-related disorders are caused by changes (known as pathogenic variants, or mutations) in the DEAF1 gene which activates or represses several other genes that are important for brain cell (neuron) development. There are two types of DEAF-1 disorders that have been described: an autosomal recessive DEAF-1 disorder (known as intellectual disability-epilepsy-extrapyramidal syndrome, or dyskinesia, seizures, and intellectual developmental disorder) and an autosomal dominant DEAF-1 disorder known as autosomal dominant intellectual disability 24.[3][4] Treatment is directed at the specific symptoms present.[3]

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 imaging abnormality
0410263
Constipation
0002019
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Poor eye contact
0000817
Severe global developmental delay
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
Autism
0000717
Broad-based gait
Wide based walk
0002136
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood

[ more ]

0002376
Feeding difficulties
Feeding problems
Poor feeding

[ more ]

0011968
Gait ataxia
Inability to coordinate movements when walking
0002066
Infantile muscular hypotonia
Decreased muscle tone in infant
0008947
Microcephaly
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
Autosomal recessive inheritance
0000007
Dyskinesia
Disorder of involuntary muscle movements
0100660
EEG abnormality
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

    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

      1. 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.
      2. 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.
      3. DEAF1. Human Diseases Genes. https://humandiseasegenes.nl/deaf1/.
      4. DEAF1 gene. Genetics Home Reference. February 13, 2018; https://ghr.nlm.nih.gov/gene/DEAF1.