HIVEP2-related intellectual disability

Title

Other Names:

Autosomal dominant intellectual disability-43

Summary Summary

HIVEP2-related intellectual disability is a neurological disorder characterized by intellectual disability, developmental delay, and variable physical features. Early symptoms include poor muscle tone (hypotonia) and delays in the devlopment of motor skills like sitting, standing, and walking. Speech is also affected, with many children never talking or saying only a few words. Common physical features include crossed and widely spaced eyes, high forehead, broad nose root, and tapering fingers. Additional less common signs and symptoms may include a very small head (microcephaly), vision problems, constipation, feeding difficulties, seizures and behavioral problems such as autism, attention deficit, defiance, and anxiety.^[1]^[2]

HIVEP2-related intellectual disability is caused by mutations in the HIVEP2 gene. Inheritance is autosomal dominant. Treatment depends on the symptoms, and may include behavioral, physical and speech therapy.^[1]^[3]

Last updated: 12/6/2016

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
5%-29% of people have these symptoms
Cerebral atrophy	Degeneration of cerebrum	0002059
Hypoplasia of the corpus callosum	Underdevelopment of part of brain called corpus callosum	0002079
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Seizure		0001250
Percent of people who have these symptoms is not available through HPO
Abnormal facial shape	Unusual facial appearance	0001999
Absent speech	Absent speech development Lack of language development Lack of speech No speech development No speech or language development Nonverbal [ more ]	0001344
Anxiety	Excessive, persistent worry and fear	0000739
Autistic behavior		0000729
Autosomal dominant inheritance		0000006
Constipation		0002019
Feeding difficulties	Feeding problems Poor feeding [ more ]	0011968
Gastroesophageal reflux	Acid reflux Acid reflux disease Heartburn [ more ]	0002020
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Global developmental delay		0001263
Hyperactivity	More active than typical	0000752
Impulsivity	Impulsive	0100710
Infantile onset	Onset in first year of life Onset in infancy [ more ]	0003593
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Narrow mouth	Small mouth	0000160
Prominent nasal bridge	Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ]	0000426
Tapered finger	Tapered fingertips Tapering fingers [ more ]	0001182
Wide nasal bridge	Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ]	0000431

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Last updated: 9/1/2020

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Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with HIVEP2-related intellectual disability. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for HIVEP2-related intellectual disability:
Simons SearchLight

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 HIVEP2-related intellectual disability. This website is maintained by the National Library of Medicine.

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.

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References References

Steinfeld H & cols. Mutations in HIVEP2 are associated with developmental delay, intellectual disability and dysmorphic features. Neurogenetics. 2016; 17(3):159-164. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4907844/.
HIVEP2-related intellectual disability. Genetics Home Reference. March 7, 2017; https://ghr.nlm.nih.gov/condition/hivep2-related-intellectual-disability#inheritance.
Srivastava S. Loss-of-function variants in HIVEP2 are a cause of intellectual disability. Eur J Hum Genet. April, 2016; 24(4):556-61. https://www.ncbi.nlm.nih.gov/pubmed/26153216.

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