MRD43
MCID: HVP001
MIFTS: 10

Hivep2-Related Intellectual Disability (MRD43)

Categories: Blood diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Hivep2-Related Intellectual Disability

MalaCards integrated aliases for Hivep2-Related Intellectual Disability:

Name: Hivep2-Related Intellectual Disability 52 25
Autosomal Dominant Intellectual Disability-43 52
Mental Retardation, Autosomal Dominant 43 25
Mrd43 25

Classifications:



Summaries for Hivep2-Related Intellectual Disability

Genetics Home Reference : 25 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. HIVEP2 HIVEP2 Other features of HIVEP2-related intellectual disability include mild abnormalities in the structure of the brain and an abnormally small brain and head size (microcephaly). Less common health problems include seizures; recurrent ear infections; and eye disorders, such as eyes that do not look in the same direction (strabismus), "lazy eye" (amblyopia), and farsightedness (hyperopia). Some people with HIVEP2-related intellectual disability have gastrointestinal problems, which can include backflow of acidic stomach contents into the esophagus (gastroesophageal reflux) and constipation. HIVEP2 HIVEP2

MalaCards based summary : Hivep2-Related Intellectual Disability, also known as autosomal dominant intellectual disability-43, is related to mental retardation, autosomal dominant 43. Affiliated tissues include eye and brain.

NIH Rare Diseases : 52 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.

Related Diseases for Hivep2-Related Intellectual Disability

Symptoms & Phenotypes for Hivep2-Related Intellectual Disability

Drugs & Therapeutics for Hivep2-Related Intellectual Disability

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Genetic Tests for Hivep2-Related Intellectual Disability

Anatomical Context for Hivep2-Related Intellectual Disability

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

40
Eye, Brain

Publications for Hivep2-Related Intellectual Disability

Articles related to Hivep2-Related Intellectual Disability:

# Title Authors PMID Year
1
Loss-of-function variants in HIVEP2 are a cause of intellectual disability. 52
26153216 2016
2
Attenuated bidirectional short-term synaptic plasticity in the dentate gyrus of Schnurri-2 knockout mice, a model of schizophrenia. 61
30285890 2018

Variations for Hivep2-Related Intellectual Disability

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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