MCID: OCL070
MIFTS: 24

Oculopalatocerebral Syndrome

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Oculopalatocerebral Syndrome

MalaCards integrated aliases for Oculopalatocerebral Syndrome:

Name: Oculopalatocerebral Syndrome 56 29 71
Oculo-Palato-Cerebral Syndrome 58
Oculo-Palato-Cerebral Dwarfism 58
Oculopalatocerebral Dwarfism 56
Opc Dwarfism 56

Characteristics:

Orphanet epidemiological data:

58
oculo-palato-cerebral syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
oculopalatocerebral syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Oculopalatocerebral Syndrome

OMIM : 56 Oculopalatocerebral syndrome is a rare disorder characterized by low birth weight, microcephaly, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy (summary by Pellegrino et al., 2001). (257910)

MalaCards based summary : Oculopalatocerebral Syndrome, also known as oculo-palato-cerebral syndrome, is related to spasticity and cleft palate, isolated. Affiliated tissues include eye and brain, and related phenotypes are microphthalmia and asthma

Related Diseases for Oculopalatocerebral Syndrome

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

# Related Disease Score Top Affiliating Genes
1 spasticity 10.4
2 cleft palate, isolated 10.3
3 persistent hyperplastic primary vitreous 10.3
4 microphthalmia 10.3
5 microcephaly 10.3
6 spastic quadriplegia 10.3
7 locked-in syndrome 10.3
8 quadriplegia 10.3
9 dwarfism 10.3

Graphical network of the top 20 diseases related to Oculopalatocerebral Syndrome:



Diseases related to Oculopalatocerebral Syndrome

Symptoms & Phenotypes for Oculopalatocerebral Syndrome

Human phenotypes related to Oculopalatocerebral Syndrome:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microphthalmia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000568
2 asthma 58 31 hallmark (90%) Very frequent (99-80%) HP:0002099
3 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
4 spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0001257
5 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
6 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
7 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
8 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
9 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
10 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
11 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
12 high, narrow palate 58 31 frequent (33%) Frequent (79-30%) HP:0002705
13 short foot 58 31 frequent (33%) Frequent (79-30%) HP:0001773
14 small hand 58 31 frequent (33%) Frequent (79-30%) HP:0200055
15 aplasia/hypoplasia of the nails 58 31 frequent (33%) Frequent (79-30%) HP:0008386
16 joint hypermobility 58 31 frequent (33%) Frequent (79-30%) HP:0001382
17 leukocoria 58 31 frequent (33%) Frequent (79-30%) HP:0000555
18 remnants of the hyaloid vascular system 58 31 frequent (33%) Frequent (79-30%) HP:0007968
19 thickened helices 58 31 frequent (33%) Frequent (79-30%) HP:0000391
20 aplasia/hypoplasia of the corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0007370
21 frontal cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0006913
22 glaucoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000501
23 retinal detachment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000541
24 global brain atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002283

Symptoms via clinical synopsis from OMIM:

56
Neuro:
spasticity
mental retardation

H E E N T:
microcephaly
cleft palate
leukocoria
microphthalmos
persistent hypertrophic primary vitreous (phpv)
more
Growth:
short stature

Clinical features from OMIM:

257910

Drugs & Therapeutics for Oculopalatocerebral Syndrome

Search Clinical Trials , NIH Clinical Center for Oculopalatocerebral Syndrome

Genetic Tests for Oculopalatocerebral Syndrome

Genetic tests related to Oculopalatocerebral Syndrome:

# Genetic test Affiliating Genes
1 Oculopalatocerebral Syndrome 29

Anatomical Context for Oculopalatocerebral Syndrome

MalaCards organs/tissues related to Oculopalatocerebral Syndrome:

40
Eye, Brain

Publications for Oculopalatocerebral Syndrome

Articles related to Oculopalatocerebral Syndrome:

# Title Authors PMID Year
1
Oculo-palato-cerebral syndrome: a third case supporting autosomal recessive inheritance. 61 56
15368502 2004
2
Oculo-palatal-cerebral syndrome: a second case. 61 56
11241490 2001
3
Oculo-palato-cerebral dwarfism: a new syndrome. 56
3995792 1985
4
Persistent hyperplastic primary vitreous. A clinicopathologic study of 62 cases and review of the literature. 56
100893 1978

Variations for Oculopalatocerebral Syndrome

Expression for Oculopalatocerebral Syndrome

Search GEO for disease gene expression data for Oculopalatocerebral Syndrome.

Pathways for Oculopalatocerebral Syndrome

GO Terms for Oculopalatocerebral Syndrome

Sources for Oculopalatocerebral 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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