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Disease Profile

HIVEP2-related intellectual disability

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

#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

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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)

Autosomal dominant intellectual disability-43

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]

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
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

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. 

References

  1. 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/.
  2. HIVEP2-related intellectual disability. Genetics Home Reference. March 7, 2017; https://ghr.nlm.nih.gov/condition/hivep2-related-intellectual-disability#inheritance.
  3. 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.