MCID: ATS360
MIFTS: 7

Autosomal Recessive Intellectual Disability 58

Categories: Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Recessive Intellectual Disability 58

MalaCards integrated aliases for Autosomal Recessive Intellectual Disability 58:

Name: Autosomal Recessive Intellectual Disability 58 54
Elp2-Related Disorders 6
Elp2-Related Disorder 54

Classifications:



Summaries for Autosomal Recessive Intellectual Disability 58

NIH Rare Diseases : 54 Autosomal recessiveintellectual 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. 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.  It is caused by mutations in the ELP2 gene. In the reported cases inheritance seems to be autosomal recessive. There is no report of specific treatment. 

MalaCards based summary : Autosomal Recessive Intellectual Disability 58, is also known as elp2-related disorders. An important gene associated with Autosomal Recessive Intellectual Disability 58 is ELP2 (Elongator Acetyltransferase Complex Subunit 2).

Symptoms & Phenotypes for Autosomal Recessive Intellectual Disability 58

Drugs & Therapeutics for Autosomal Recessive Intellectual Disability 58

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Intellectual Disability 58

Genetic Tests for Autosomal Recessive Intellectual Disability 58

Anatomical Context for Autosomal Recessive Intellectual Disability 58

Publications for Autosomal Recessive Intellectual Disability 58

Variations for Autosomal Recessive Intellectual Disability 58

ClinVar genetic disease variations for Autosomal Recessive Intellectual Disability 58:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ELP2 NM_001242875.2(ELP2): c.812A> G (p.His271Arg) single nucleotide variant Pathogenic/Likely pathogenic rs773432002 GRCh37 Chromosome 18, 33722272: 33722272
2 ELP2 NM_001242875.2(ELP2): c.812A> G (p.His271Arg) single nucleotide variant Pathogenic/Likely pathogenic rs773432002 GRCh38 Chromosome 18, 36142309: 36142309
3 ELP2 NM_001242875.2(ELP2): c.1713_1716delTAAA (p.Asn571Lysfs) deletion Likely pathogenic rs867944805 GRCh37 Chromosome 18, 33738851: 33738854
4 ELP2 NM_001242875.2(ELP2): c.1713_1716delTAAA (p.Asn571Lysfs) deletion Likely pathogenic rs867944805 GRCh38 Chromosome 18, 36158888: 36158891

Expression for Autosomal Recessive Intellectual Disability 58

Search GEO for disease gene expression data for Autosomal Recessive Intellectual Disability 58.

Pathways for Autosomal Recessive Intellectual Disability 58

GO Terms for Autosomal Recessive Intellectual Disability 58

Sources for Autosomal Recessive Intellectual Disability 58

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