MCID: HVP001
MIFTS: 9

Hivep2-Related Intellectual Disability

Categories: Rare diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Hivep2-Related Intellectual Disability

MalaCards integrated aliases for Hivep2-Related Intellectual Disability:

Name: Hivep2-Related Intellectual Disability 49 24
Autosomal Dominant Intellectual Disability-43 49
Mental Retardation, Autosomal Dominant 43 24
Mrd43 24

Classifications:



Summaries for Hivep2-Related Intellectual Disability

Genetics Home Reference : 24 HIVEP2-related intellectual disability is a neurological disorder characterized by moderate to severe developmental delay and intellectual disability and mild physical abnormalities (dysmorphic features). Early symptoms of the condition include weak muscle tone (hypotonia) and delayed development of motor skills, such as sitting, standing, and walking. After learning to walk, many affected individuals continue to have difficulty with this activity; their walking style (gait) is often unbalanced and wide-based. Speech is also delayed, and some people with this condition never learn to talk. Most people with HIVEP2-related intellectual disability also have unusual physical features, such as widely spaced eyes (hypertelorism), a broad nasal bridge, or fingers with tapered ends, although there is no characteristic pattern of such features among affected individuals. Many people with the condition exhibit behavioral problems, such as hyperactivity, attention deficit disorder, aggression, anxiety, and autism spectrum disorder, which is a group of developmental disorders characterized by impaired communication and social interaction.

MalaCards based summary : Hivep2-Related Intellectual Disability, also known as autosomal dominant intellectual disability-43, is related to mental retardation, autosomal dominant 43. An important gene associated with Hivep2-Related Intellectual Disability is HIVEP2 (Human Immunodeficiency Virus Type I Enhancer Binding Protein 2). Affiliated tissues include eye.

NIH Rare Diseases : 49 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. 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.   Last updated: 12/6/2016

Related Diseases for Hivep2-Related Intellectual Disability

Diseases related to Hivep2-Related Intellectual Disability via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mental retardation, autosomal dominant 43 12.5

Symptoms & Phenotypes for Hivep2-Related Intellectual Disability

Drugs & Therapeutics for Hivep2-Related Intellectual Disability

Search Clinical Trials , NIH Clinical Center for Hivep2-Related Intellectual Disability

Genetic Tests for Hivep2-Related Intellectual Disability

Anatomical Context for Hivep2-Related Intellectual Disability

MalaCards organs/tissues related to Hivep2-Related Intellectual Disability:

38
Eye

Publications for Hivep2-Related Intellectual Disability

Variations for Hivep2-Related Intellectual Disability

ClinVar genetic disease variations for Hivep2-Related Intellectual Disability:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HIVEP2 NM_006734.3(HIVEP2): c.6475G> T (p.Gly2159Ter) single nucleotide variant Pathogenic rs761993070 GRCh37 Chromosome 6, 143080950: 143080950
2 HIVEP2 NM_006734.3(HIVEP2): c.5614dupG (p.Glu1872Glyfs) duplication Pathogenic rs869312844 GRCh37 Chromosome 6, 143082607: 143082607
3 HIVEP2 NM_006734.3(HIVEP2): c.2857G> T (p.Glu953Ter) single nucleotide variant Pathogenic rs869312843 GRCh38 Chromosome 6, 142771882: 142771882
4 HIVEP2 NM_006734.3(HIVEP2): c.2827C> T (p.Arg943Ter) single nucleotide variant Pathogenic rs869312841 GRCh37 Chromosome 6, 143093049: 143093049
5 HIVEP2 NM_006734.3(HIVEP2): c.5737delG (p.Asp1913Metfs) deletion Pathogenic rs878853251 GRCh37 Chromosome 6, 143081688: 143081688
6 HIVEP2 NM_006734.3(HIVEP2): c.3556C> T (p.Gln1186Ter) single nucleotide variant Pathogenic rs878853269 GRCh37 Chromosome 6, 143092320: 143092320

Expression for Hivep2-Related Intellectual Disability

Search GEO for disease gene expression data for Hivep2-Related Intellectual Disability.

Pathways for Hivep2-Related Intellectual Disability

GO Terms for Hivep2-Related Intellectual Disability

Sources for Hivep2-Related Intellectual Disability

3 CDC
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10 dbSNP
11 DGIdb
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18 FMA
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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