MCID: HVP001
MIFTS: 9

Hivep2-Related Intellectual Disability

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

Aliases & Classifications for Hivep2-Related Intellectual Disability

MalaCards integrated aliases for Hivep2-Related Intellectual Disability:

Name: Hivep2-Related Intellectual Disability 53 25
Autosomal Dominant Intellectual Disability-43 53
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.

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.

NIH Rare Diseases : 53 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

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:

41
Eye

Publications for Hivep2-Related Intellectual Disability

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....