MCID: OLV002
MIFTS: 42

Oliver Syndrome

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

Aliases & Classifications for Oliver Syndrome

MalaCards integrated aliases for Oliver Syndrome:

Name: Oliver Syndrome 56 52 58 71
Postaxial Polydactyly-Intellectual Disability Syndrome 52 58
Postaxial Polydactyly and Mental Retardation 56
Syndrome, Oliver 39

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
oliver syndrome:
Inheritance autosomal recessive inheritance


Classifications:

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


External Ids:

OMIM 56 258200
ICD10 via Orphanet 33 Q87.2
UMLS via Orphanet 72 C1850320
Orphanet 58 ORPHA2920
MedGen 41 C1850320
UMLS 71 C1850320

Summaries for Oliver Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2920 Definition Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly , and epilepsy . Epidemiology To date, seven individuals in three families have been reported. Clinical description Facial features are not characteristic except for a prominent jaw. Concordant features in all subjects are postaxial polydactyly, which in four individuals affect also the feet, and intellectual deficit, which is usually severe, with absent or indistinct speech. Seizures are common with onset in the first months of life or in early childhood. Cutaneous syndactyly , camptodactyly and clinodactyly of fingers and brachydactyly and syndactyly of the toes have been recorded. Genetic counseling The condition is probably hereditary, and transmitted as an autosomal recessive trait . Visit the Orphanet disease page for more resources.

MalaCards based summary : Oliver Syndrome, also known as postaxial polydactyly-intellectual disability syndrome, is related to adams-oliver syndrome 1 and adams-oliver syndrome 5. An important gene associated with Oliver Syndrome is NOTCH1 (Notch Receptor 1), and among its related pathways/superpathways are Notch Signaling Pathway (WikiPathways) and Wnt / Hedgehog / Notch. Affiliated tissues include brain, bone and heart, and related phenotypes are postaxial hand polydactyly and intellectual disability, profound

More information from OMIM: 258200

Related Diseases for Oliver Syndrome

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

(show top 50) (show all 103)
# Related Disease Score Top Affiliating Genes
1 adams-oliver syndrome 1 34.2 DOCK6 ARHGAP31
2 adams-oliver syndrome 5 33.8 NOTCH1 MIR4673
3 adams-oliver syndrome 2 33.8 LOC105372273 DOCK6
4 adams-oliver syndrome 29.6 UGT1A1 RBPJ NOTCH1 MIR4673 LOC105372273 ISG15
5 aortic valve disease 1 28.6 RBPJ NOTCH1 DOCK6 DLL4 ARHGAP31
6 adams-oliver syndrome 3 12.7
7 adams-oliver syndrome 4 12.7
8 adams-oliver syndrome 6 12.7
9 oliver-mcfarlane syndrome 12.0
10 aplasia cutis congenita, nonsyndromic 11.8
11 ohdo syndrome, sbbys variant 11.6
12 polymicrogyria 11.5
13 autosomal dominant deafness-onychodystrophy syndrome 11.2
14 cutis marmorata telangiectatica congenita 10.3
15 brachydactyly 10.2
16 microcephaly 10.1
17 portal hypertension 10.0
18 telangiectasis 10.0
19 hepatoportal sclerosis 10.0
20 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.0
21 pulmonary hypertension 10.0
22 heart septal defect 10.0
23 cataract 10.0
24 alopecia 10.0
25 hajdu-cheney syndrome 9.9 RBPJ NOTCH1
26 poland syndrome 9.9
27 retinal detachment 9.9
28 chromosome 2q35 duplication syndrome 9.9
29 varicose veins 9.9
30 cryptorchidism, unilateral or bilateral 9.9
31 aortic valve disease 2 9.9
32 alacrima, achalasia, and mental retardation syndrome 9.9
33 esophageal varix 9.9
34 clubfoot 9.9
35 oligohydramnios 9.9
36 periventricular leukomalacia 9.9
37 atrial heart septal defect 9.9
38 hypotonia 9.9
39 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 9.8 RBPJ NOTCH1 DLL4
40 alagille syndrome 1 9.8 RBPJ NOTCH1 DLL4
41 spondylocostal dysostosis 3, autosomal recessive 9.7 RBPJ NOTCH1
42 atrial standstill 1 9.7
43 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.7
44 optic nerve hypoplasia, bilateral 9.7
45 pseudopapilledema 9.7
46 dowling-degos disease 1 9.7
47 septooptic dysplasia 9.7
48 neural tube defects 9.7
49 strabismus 9.7
50 tetralogy of fallot 9.7

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



Diseases related to Oliver Syndrome

Symptoms & Phenotypes for Oliver Syndrome

Human phenotypes related to Oliver Syndrome:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 postaxial hand polydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001162
2 intellectual disability, profound 58 31 hallmark (90%) Very frequent (99-80%) HP:0002187
3 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
4 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
5 short toe 58 31 frequent (33%) Frequent (79-30%) HP:0001831
6 cutaneous finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0010554
7 postaxial foot polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001830
8 poor speech 58 31 frequent (33%) Frequent (79-30%) HP:0002465
9 bilateral tonic-clonic seizure 31 frequent (33%) HP:0002069
10 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
11 dental malocclusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000689
12 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
13 thick eyebrow 58 31 occasional (7.5%) Occasional (29-5%) HP:0000574
14 intrauterine growth retardation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001511
15 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
16 hyperconvex fingernails 58 31 occasional (7.5%) Occasional (29-5%) HP:0001812
17 elbow flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0002987
18 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
19 small earlobe 58 31 occasional (7.5%) Occasional (29-5%) HP:0000385
20 short philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000322
21 camptodactyly of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0100490
22 supernumerary nipple 58 31 occasional (7.5%) Occasional (29-5%) HP:0002558
23 knee flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0006380
24 absent earlobe 58 31 occasional (7.5%) Occasional (29-5%) HP:0000387
25 prominent fingertip pads 58 31 occasional (7.5%) Occasional (29-5%) HP:0001212
26 intellectual disability 31 HP:0001249
27 generalized tonic-clonic seizures 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Limbs:
postaxial polydactyly

Neuro:
mental retardation

Clinical features from OMIM:

258200

Drugs & Therapeutics for Oliver Syndrome

Search Clinical Trials , NIH Clinical Center for Oliver Syndrome

Genetic Tests for Oliver Syndrome

Anatomical Context for Oliver Syndrome

MalaCards organs/tissues related to Oliver Syndrome:

40
Brain, Bone, Heart, Eye, Skin

Publications for Oliver Syndrome

Articles related to Oliver Syndrome:

(show top 50) (show all 185)
# Title Authors PMID Year
1
Report of a third family with Oliver syndrome. 61 56
16278897 2005
2
Adams Oliver syndrome: A mimicker of familial exudative vitreoretinopathy. 61
32420513 2020
3
Adams-Oliver syndrome: a case of bilateral progressive ischemic maculopathy. 61
32522703 2020
4
A novel variant in DOCK6 gene associated with Adams-Oliver syndrome type 2. 61
32498638 2020
5
Pleiotropic Role of Notch Signaling in Human Skin Diseases. 61
32545758 2020
6
Novel In-Frame Deletion Mutation in NOTCH1 in a Chinese Sporadic Case of Adams-Oliver Syndrome. 61
32129674 2020
7
Multiple Aplasia Cutis Congenita Lesions of the Scalp: A Case Study. 61
32317338 2020
8
Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants. 61
31813956 2020
9
Treatment of a Large Skull Defect and Brain Herniation in a Newborn With Adams-Oliver Syndrome. 61
32211278 2020
10
Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype. 61
31654484 2020
11
Adams-Oliver syndrome caused by mutations of the EOGT gene. 61
31368252 2019
12
Ocular Manifestations of Cutis Marmorata Telangiectatica Congenita. 61
31147303 2019
13
Familial aggregation of "apple peel" intestinal atresia and cardiac left-sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations. 61
31111652 2019
14
A novel DLL4 missense mutation in a Chinese patient with Adams-Oliver syndrome. 61
31261205 2019
15
Novel compound heterozygous mutations of the DOCK6 gene in a familial case of Adams-Oliver syndrome 2. 61
30898718 2019
16
Structure and function of extracellular O-GlcNAc. 61
30669087 2019
17
Mechanism of cell-intrinsic adaptation to Adams-Oliver Syndrome gene DOCK6 disruption highlights ubiquitin-like modifier ISG15 as a regulator of RHO GTPases. 61
28287327 2019
18
[Analysis of DOCK6 gene mutation in a child affected with Adams-Oliver syndrome type 2]. 61
30950023 2019
19
[Adams-Oliver syndrome and cutis marmorata telangiectatica congenita]. 61
30638685 2019
20
Adams-Oliver Syndrome: Limited Expression. 61
29948730 2019
21
Adams-Oliver Syndrome With Moyamoya Disease for Cerebral Revascularisation Surgery. 61
29028653 2019
22
Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease. 61
29767458 2019
23
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 61
29924900 2018
24
Congenital diseases caused by defective O-glycosylation of Notch receptors. 61
30214079 2018
25
Intracranial Calcifications in Young Children. 61
29961505 2018
26
Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype. 61
29631299 2018
27
Adams Oliver syndrome with cerebellar cortical dysplasia. 61
29680918 2018
28
Importance of complete phenotyping in prenatal whole exome sequencing. 61
29392406 2018
29
CdGAP/ARHGAP31 is regulated by RSK phosphorylation and binding to 14-3-3β adaptor protein. 61
29545927 2018
30
Corrigendum: Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome. 61
28839276 2017
31
Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations. 61
28884918 2017
32
Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome. 61
28446798 2017
33
The scaffold protein Ajuba suppresses CdGAP activity in epithelia to maintain stable cell-cell contacts. 61
28835688 2017
34
Adams-Oliver Syndrome with Unusual Central Nervous System Findings and an Extrahepatic Portosystemic Shunt. 61
28706620 2017
35
Use of an epidermal growth factor-infused foam dressing in a complicated case of Adams-Oliver syndrome. 61
28598754 2017
36
The developmental biology of genetic Notch disorders. 61
28512196 2017
37
EOGT and O-GlcNAc on secreted and membrane proteins. 61
28408480 2017
38
Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. 61
28160419 2017
39
A Case of Adams-Oliver Syndrome. 61
29387678 2017
40
Adams-Oliver syndrome associated with gastrointestinal malformations. 61
27888223 2016
41
[Aplasia cutis congenita: Update and management]. 61
27503278 2016
42
Cell-Intrinsic Adaptation Arising from Chronic Ablation of a Key Rho GTPase Regulator. 61
27693507 2016
43
Letter regarding "Distal Limb Defects and Aplasia Cutis: Adams-Oliver Syndrome". 61
27402369 2016
44
Distal Limb Defects and Aplasia Cutis: Adams-Oliver Syndrome. 61
27178874 2016
45
Adams-Oliver Syndrome: A Case with Full Expression. 61
27433307 2016
46
Adams-Oliver Syndrome 61
27077170 2016
47
Adams-Oliver syndrome in a newborn infant. 61
24697559 2016
48
DLL4 loss-of-function heterozygous mutations cause Adams-Oliver syndrome. 61
26419402 2015
49
Intracellular and extracellular O-linked N-acetylglucosamine in the nervous system. 61
26278182 2015
50
Network-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic Disease. 61
26394720 2015

Variations for Oliver Syndrome

Expression for Oliver Syndrome

Search GEO for disease gene expression data for Oliver Syndrome.

Pathways for Oliver Syndrome

Pathways related to Oliver Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.19 RBPJ NOTCH1 DLL4
2 11.8 RBPJ NOTCH1 DLL4
3
Show member pathways
11.73 RBPJ NOTCH1 DLL4
4
Show member pathways
11.48 RBPJ NOTCH1 DLL4
5 11.3 RBPJ NOTCH1
6 11.18 RBPJ NOTCH1
7 11.14 RBPJ NOTCH1
8 11.14 RBPJ NOTCH1 DLL4
9 11.12 RBPJ NOTCH1
10 10.94 DOCK6 ARHGAP31
11 10.88 RBPJ NOTCH1
12 10.51 NOTCH1 DLL4
13 10.23 RBPJ NOTCH1 DLL4

GO Terms for Oliver Syndrome

Cellular components related to Oliver Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MAML1-RBP-Jkappa- ICN1 complex GO:0002193 8.62 RBPJ NOTCH1

Biological processes related to Oliver Syndrome according to GeneCards Suite gene sharing:

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.82 RBPJ NOTCH1 DLL4
2 Notch signaling pathway GO:0007219 9.74 RBPJ NOTCH1 DLL4
3 negative regulation of cell differentiation GO:0045596 9.67 RBPJ NOTCH1
4 negative regulation of catalytic activity GO:0043086 9.67 UGT1A1 NOTCH1
5 humoral immune response GO:0006959 9.67 RBPJ NOTCH1
6 keratinocyte differentiation GO:0030216 9.66 RBPJ NOTCH1
7 outflow tract morphogenesis GO:0003151 9.66 RBPJ NOTCH1
8 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.65 NOTCH1 DLL4
9 negative regulation of cold-induced thermogenesis GO:0120163 9.65 RBPJ NOTCH1
10 animal organ regeneration GO:0031100 9.65 UGT1A1 NOTCH1
11 epithelial to mesenchymal transition GO:0001837 9.64 RBPJ NOTCH1
12 regulation of neurogenesis GO:0050767 9.63 NOTCH1 DLL4
13 ventricular septum morphogenesis GO:0060412 9.63 RBPJ NOTCH1
14 positive regulation of cardiac muscle cell proliferation GO:0060045 9.62 RBPJ NOTCH1
15 positive regulation of BMP signaling pathway GO:0030513 9.62 RBPJ NOTCH1
16 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.61 NOTCH1 DLL4
17 blood vessel remodeling GO:0001974 9.61 RBPJ DLL4
18 aortic valve morphogenesis GO:0003180 9.6 NOTCH1 DLL4
19 inflammatory response to antigenic stimulus GO:0002437 9.59 RBPJ NOTCH1
20 negative regulation of ossification GO:0030279 9.58 RBPJ NOTCH1
21 positive regulation of transcription of Notch receptor target GO:0007221 9.58 RBPJ NOTCH1
22 positive regulation of Notch signaling pathway GO:0045747 9.58 RBPJ NOTCH1 DLL4
23 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.56 RBPJ NOTCH1
24 cardiac left ventricle morphogenesis GO:0003214 9.55 RBPJ NOTCH1
25 cardiac ventricle morphogenesis GO:0003208 9.54 NOTCH1 DLL4
26 dorsal aorta morphogenesis GO:0035912 9.52 RBPJ DLL4
27 pericardium morphogenesis GO:0003344 9.51 NOTCH1 DLL4
28 interleukin-4 secretion GO:0072602 9.49 RBPJ NOTCH1
29 cardiac atrium morphogenesis GO:0003209 9.48 NOTCH1 DLL4
30 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.46 RBPJ NOTCH1
31 endocardium development GO:0003157 9.43 RBPJ NOTCH1
32 auditory receptor cell fate commitment GO:0009912 9.37 RBPJ NOTCH1
33 regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation GO:0003256 9.32 RBPJ NOTCH1
34 blood vessel lumenization GO:0072554 9.26 RBPJ DLL4
35 endocardium morphogenesis GO:0003160 9.16 RBPJ NOTCH1
36 ventricular trabecula myocardium morphogenesis GO:0003222 9.13 RBPJ NOTCH1 DLL4
37 Notch signaling involved in heart development GO:0061314 8.8 RBPJ NOTCH1 DLL4

Molecular functions related to Oliver Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme inhibitor activity GO:0004857 8.96 UGT1A1 NOTCH1
2 Notch binding GO:0005112 8.62 NOTCH1 DLL4

Sources for Oliver 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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