MCID: OCL070
MIFTS: 24

Oculopalatocerebral Syndrome

Categories: Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Oculopalatocerebral Syndrome

MalaCards integrated aliases for Oculopalatocerebral Syndrome:

Name: Oculopalatocerebral Syndrome 57 71
Oculo-Palato-Cerebral Syndrome 58 28
Oculo-Palato-Cerebral Dwarfism 58
Oculopalatocerebral Dwarfism 57
Opc Dwarfism 57

Characteristics:


Inheritance:

Oculopalatocerebral Syndrome: Autosomal recessive 57
Oculo-Palato-Cerebral Syndrome: Autosomal recessive 58

Prevelance:

Oculo-Palato-Cerebral Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Oculo-Palato-Cerebral Syndrome: Infancy,Neonatal 58

Classifications:

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


Summaries for Oculopalatocerebral Syndrome

OMIM®: 57 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) (Updated 24-Oct-2022)

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

Orphanet: 58 Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities.

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 10.2
2 cleft palate, isolated 10.2
3 persistent hyperplastic primary vitreous 10.2
4 microphthalmia 10.2
5 microcephaly 10.2
6 spastic quadriplegia 10.2
7 quadriplegia 10.2

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Neuro:
spasticity
mental retardation

Growth:
short stature

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

Clinical features from OMIM®:

257910 (Updated 24-Oct-2022)

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 Oculo-Palato-Cerebral Syndrome 28

Anatomical Context for Oculopalatocerebral Syndrome

Organs/tissues related to Oculopalatocerebral Syndrome:

MalaCards : 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. 62 57
15368502 2004
2
Oculo-palatal-cerebral syndrome: a second case. 62 57
11241490 2001
3
Oculo-palato-cerebral dwarfism: a new syndrome. 62 57
3995792 1985
4
Persistent hyperplastic primary vitreous. A clinicopathologic study of 62 cases and review of the literature. 57
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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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