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Disease Profile

Autosomal recessive intellectual disability 58

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)

ELP2-related disorder

Summary

Autosomal recessive intellectual disability 58 is a very rare genetic condition characterized by intellectual disability without identified malformations in other organs (non-syndromic) of the body. To date, there are only eight cases reported in the medical literature. Symptoms severity varied in the reported cases, with mild or severe intellectual disability.[1] In one family with two affected brothers, one was not able to walk at age 9 due to progressive spasticity (stiffness or tightness of the muscles with too strong or persistent reflexes) and difficulty talking, and the other never walked or talked. Both brothers had behavioral problems, such as aggressiveness, impulsivity, and self-injury.[2] It is caused by mutations in the ELP2 gene. In the reported cases inheritance seems to be autosomal recessive.[1] There is no report of specific treatment.

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
Short stature
Decreased body height
Small stature

[ more ]

0004322
1%-4% of people have these symptoms
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay

[ more ]

0000750
Global developmental delay
0001263
Hyperreflexia
Increased reflexes
0001347
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Muscular hypotonia of the trunk
Low muscle tone in trunk
0008936
Pica
0011856
Poor head control
0002421
Self-injurious behavior
Self-injurious behaviour
0100716
Spastic diplegia
0001264
Stereotypy
Repetitive movements
Repetitive or self-injurious behavior

[ more ]

0000733
Percent of people who have these symptoms is not available through HPO
Absent speech
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal

[ more ]

0001344
Aggressive behavior
Aggression
Aggressive behaviour
Aggressiveness

[ more ]

0000718
Autosomal recessive inheritance
0000007
Choreoathetosis
0001266
Congenital onset
Symptoms present at birth
0003577
Progressive
Worsens with time
0003676

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. 

References

  1. Autosomal recessive mental retardation-58. OMIM. 2016; https://www.omim.org/entry/617270.
  2. Cohen JS, Srivastava S, Farwell KD, LuH-M, Zeng W, Lu H, Chao EC & Fatemi A. ELP2 is a novel gene implicated inneurodevelopmental. Am J Med Genet Part A. 2015; 167A:1391–1395.. https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36935/abstract.