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Disease Profile
HIVEP2-related intellectual disability
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
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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.
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)
Autosomal dominant intellectual disability-43
Summary
HIVEP2-related
HIVEP2-related intellectual disability is caused by
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 |
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 | |
| 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 | |
| 0000006 | ||
| Constipation | 0002019 | |
| Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
| Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
| Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
| Global |
0001263 | |
| Hyperactivity |
More active than typical
|
0000752 |
| Impulsivity |
Impulsive
|
0100710 |
| Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
|
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
- 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.