MCID: OPH015
MIFTS: 8

Ophn1 Syndrome

Categories: Rare diseases

Aliases & Classifications for Ophn1 Syndrome

MalaCards integrated aliases for Ophn1 Syndrome:

Name: Ophn1 Syndrome 52
Intellectual Disability, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance 52
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome 52
X-Linked Intellectual Deficit with Cerebellar Hypoplasia 52
Ophn1 Xlmr, X-Linked Intellectual Disability 52
Oligophrenin-1 Syndrome 52
Ophn1- Related Xlid 52
Ophn1 Deficiency 52
Ophn1 Xlmr 52

Classifications:



Summaries for Ophn1 Syndrome

NIH Rare Diseases : 52 OPHN1 syndrome is a rare disorder characterized by intellectual disability and changes in the part of the brain which controls movement and balance (cerebellum ). The syndrome mainly affects males. Signs and symptoms may include intellectual disability, low muscle tone (hypotonia ), developmental and cognitive delay , early-onset seizures , abnormal behavior, small or underdeveloped genitals, characteristic facial features (long face, bulging forehead, under eye creases, deep set eyes, and large ears), crossed eyes (strabismus ) and inability to coordinate movements . A small cerebellum and large brain ventricles can be seen on brain imaging (MRI ). Treatment is supportive and includes physical, occupational and speech and language therapy. OPHN1 syndrome is caused by mutations in the OPHN1 gene , which is located on the X chromosome . Inheritance is X-linked . Some females who carry a mutation in the OPHN1 gene may have mild learning disabilities, mild cognitive impairment , strabismus, and subtle facial changes.

MalaCards based summary : Ophn1 Syndrome, also known as intellectual disability, x-linked, with cerebellar hypoplasia and distinctive facial appearance, is related to mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance. Affiliated tissues include eye, brain and cerebellum.

Wikipedia : 74 Oligophrenin-1 is a protein that in humans is encoded by the OPHN1... more...

Related Diseases for Ophn1 Syndrome

Diseases related to Ophn1 Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 11.3

Symptoms & Phenotypes for Ophn1 Syndrome

Drugs & Therapeutics for Ophn1 Syndrome

Search Clinical Trials , NIH Clinical Center for Ophn1 Syndrome

Genetic Tests for Ophn1 Syndrome

Anatomical Context for Ophn1 Syndrome

MalaCards organs/tissues related to Ophn1 Syndrome:

40
Eye, Brain, Cerebellum

Publications for Ophn1 Syndrome

Articles related to Ophn1 Syndrome:

# Title Authors PMID Year
1
Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function. 61
27160703 2016

Variations for Ophn1 Syndrome

Expression for Ophn1 Syndrome

Search GEO for disease gene expression data for Ophn1 Syndrome.

Pathways for Ophn1 Syndrome

GO Terms for Ophn1 Syndrome

Sources for Ophn1 Syndrome

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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