MCID: OLV002
MIFTS: 45

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 58 54 60 74
Postaxial Polydactyly-Intellectual Disability Syndrome 54 60
Postaxial Polydactyly and Mental Retardation 58
Syndrome, Oliver 41

Characteristics:

Orphanet epidemiological data:

60
oliver syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
oliver syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Oliver Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2920Disease definitionOliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy.EpidemiologyTo date, seven individuals in three families have been reported.Clinical descriptionFacial 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 counselingThe condition is probably hereditary, and transmitted as an autosomal recessivetrait.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 2 and adams-oliver syndrome 5. An important gene associated with Oliver Syndrome is NOTCH1 (Notch Receptor 1), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Development NOTCH1-mediated pathway for NF-KB activity modulation. Affiliated tissues include brain, bone and heart, and related phenotypes are intellectual disability, profound and postaxial hand polydactyly

Description from OMIM: 258200

Related Diseases for Oliver Syndrome

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

(show all 41)
# Related Disease Score Top Affiliating Genes
1 adams-oliver syndrome 2 33.8 DOCK6 LOC105372273
2 adams-oliver syndrome 5 33.2 MIR4673 MIR4674 NOTCH1
3 adams-oliver syndrome 31.8 ARHGAP31 DLL4 DOCK6 EOGT LOC105372273 MIR4673
4 aplasia cutis congenita 29.3 ARHGAP31 DLL4 DOCK6 EOGT NOTCH1 RBPJ
5 adams-oliver syndrome 3 12.6
6 adams-oliver syndrome 4 12.6
7 adams-oliver syndrome 1 12.6
8 adams-oliver syndrome 6 12.6
9 oliver-mcfarlane syndrome 11.7
10 ohdo syndrome, sbbys variant 11.5
11 aplasia cutis congenita, nonsyndromic 11.0
12 autosomal dominant deafness-onychodystrophy syndrome 11.0
13 cutis marmorata telangiectatica congenita 10.0
14 alagille syndrome 1 10.0 NOTCH1 RBPJ
15 hajdu-cheney syndrome 9.9 NOTCH1 RBPJ
16 cataract 9.9
17 periventricular leukomalacia 9.9
18 epilepsy 9.9
19 leukomalacia 9.9
20 hepatoportal sclerosis 9.9
21 atrial standstill 1 9.7
22 diabetes mellitus, noninsulin-dependent 9.7
23 septooptic dysplasia 9.7
24 trichomegaly 9.7
25 moyamoya disease 1 9.7
26 leukemia, chronic myeloid 9.7
27 diabetes mellitus, ketosis-prone 9.7
28 pulmonary hypertension 9.7
29 dilated cardiomyopathy 9.7
30 human venous malformation 9.7
31 leukemia 9.7
32 portal hypertension 9.7
33 hemiplegia 9.7
34 optic disk drusen 9.7
35 vascular disease 9.7
36 microcephaly 9.7
37 polymicrogyria 9.7
38 aortic coarctation 9.7
39 trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina 9.7
40 encephalopathy 9.7
41 ischemic retinopathy 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:

60 33 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability, profound 60 33 hallmark (90%) Very frequent (99-80%) HP:0002187
2 postaxial hand polydactyly 60 33 hallmark (90%) Very frequent (99-80%) HP:0001162
3 mandibular prognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000303
4 absent speech 60 33 frequent (33%) Frequent (79-30%) HP:0001344
5 short toe 60 33 frequent (33%) Frequent (79-30%) HP:0001831
6 generalized tonic-clonic seizures 60 33 frequent (33%) Frequent (79-30%) HP:0002069
7 cutaneous finger syndactyly 60 33 frequent (33%) Frequent (79-30%) HP:0010554
8 postaxial foot polydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001830
9 poor speech 60 33 frequent (33%) Frequent (79-30%) HP:0002465
10 high palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000218
11 scoliosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002650
12 dental malocclusion 60 33 occasional (7.5%) Occasional (29-5%) HP:0000689
13 microcephaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000252
14 thick eyebrow 60 33 occasional (7.5%) Occasional (29-5%) HP:0000574
15 intrauterine growth retardation 60 33 occasional (7.5%) Occasional (29-5%) HP:0001511
16 hyperconvex fingernails 60 33 occasional (7.5%) Occasional (29-5%) HP:0001812
17 elbow flexion contracture 60 33 occasional (7.5%) Occasional (29-5%) HP:0002987
18 short philtrum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000322
19 clinodactyly of the 5th finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0004209
20 small earlobe 60 33 occasional (7.5%) Occasional (29-5%) HP:0000385
21 camptodactyly of finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0100490
22 supernumerary nipple 60 33 occasional (7.5%) Occasional (29-5%) HP:0002558
23 knee flexion contracture 60 33 occasional (7.5%) Occasional (29-5%) HP:0006380
24 absent earlobe 60 33 occasional (7.5%) Occasional (29-5%) HP:0000387
25 prominent fingertip pads 60 33 occasional (7.5%) Occasional (29-5%) HP:0001212
26 intellectual disability 33 HP:0001249

Symptoms via clinical synopsis from OMIM:

58
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:

42
Brain, Bone, Heart, Eye, Myeloid, Retina

Publications for Oliver Syndrome

Articles related to Oliver Syndrome:

(show top 50) (show all 126)
# Title Authors Year
1
Mechanism of cell-intrinsic adaptation to Adams-Oliver Syndrome gene DOCK6 disruption highlights ubiquitin-like modifier ISG15 as a regulator of RHO GTPases. ( 28287327 )
2019
2
Adams-Oliver Syndrome: Limited Expression. ( 29948730 )
2019
3
Novel compound heterozygous mutations of the DOCK6 gene in a familial case of Adams-Oliver syndrome 2. ( 30898718 )
2019
4
Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype. ( 29631299 )
2018
5
Adams Oliver syndrome with cerebellar cortical dysplasia. ( 29680918 )
2018
6
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. ( 29924900 )
2018
7
Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. ( 28160419 )
2017
8
Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome. ( 28446798 )
2017
9
Use of an epidermal growth factor-infused foam dressing in a complicated case of Adams-Oliver syndrome. ( 28598754 )
2017
10
Adams-Oliver Syndrome with Unusual Central Nervous System Findings and an Extrahepatic Portosystemic Shunt. ( 28706620 )
2017
11
Corrigendum: Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome. ( 28839276 )
2017
12
Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations. ( 28884918 )
2017
13
Adams-Oliver Syndrome With Moyamoya Disease for Cerebral Revascularisation Surgery. ( 29028653 )
2017
14
A Case of Adams-Oliver Syndrome. ( 29387678 )
2017
15
Adams-Oliver syndrome in a newborn infant. ( 24697559 )
2016
16
Distal Limb Defects and Aplasia Cutis: Adams-Oliver Syndrome. ( 27178874 )
2016
17
Letter regarding "Distal Limb Defects and Aplasia Cutis: Adams-Oliver Syndrome". ( 27402369 )
2016
18
Adams-Oliver Syndrome: A Case with Full Expression. ( 27433307 )
2016
19
Adams-Oliver syndrome associated with gastrointestinal malformations. ( 27888223 )
2016
20
Impaired O-linked N-acetylglucosaminylation in the endoplasmic reticulum by mutated epidermal growth factor (EGF) domain-specific O-linked N-acetylglucosamine transferase found in Adams-Oliver syndrome. ( 25488668 )
2015
21
Adams-Oliver syndrome: a case report. ( 25556654 )
2015
22
Multiple tics in a patient with Adams-Oliver syndrome. ( 25716509 )
2015
23
DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies. ( 25824905 )
2015
24
Cardiovascular malformations in Adams-Oliver syndrome. ( 25885069 )
2015
25
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. ( 25963545 )
2015
26
Adams Oliver Syndrome. ( 26244971 )
2015
27
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome. ( 26299364 )
2015
28
DLL4 loss-of-function heterozygous mutations cause Adams-Oliver syndrome. ( 26419402 )
2015
29
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. ( 26457590 )
2015
30
Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase. ( 23860037 )
2014
31
Adams-Oliver syndrome. ( 24320818 )
2014
32
Adams-Oliver syndrome: new evidence in variable expressivity? ( 24372423 )
2014
33
Adams-Oliver Syndrome - Follow-up of a Large Scalp Defect. ( 24515817 )
2014
34
Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations. ( 24668619 )
2014
35
Severe phenotype in two half-sibs with Adams Oliver syndrome. ( 24862819 )
2014
36
Adams-Oliver syndrome. ( 24906278 )
2014
37
Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations. ( 25091416 )
2014
38
Mutations in NOTCH1 cause Adams-Oliver syndrome. ( 25132448 )
2014
39
Unique variant of Adams-Oliver syndrome with dilated cardiomyopathy and heart block. ( 23910800 )
2013
40
Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family. ( 24505229 )
2013
41
Dilemmas and challenges in the management of a neonate with Adams-Oliver syndrome with infected giant aplasia cutis lesion and exsanguination: a case-based update. ( 23274636 )
2013
42
Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. ( 23522784 )
2013
43
Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome. ( 23613382 )
2013
44
Parental allografts in the management of Adams-Oliver syndrome. ( 23740178 )
2013
45
Adams-Oliver syndrome and portal hypertension: fortuitous association or common mechanism? ( 22307742 )
2012
46
Adams-Oliver Syndrome. A case with isolated aplasia cutis congenita and skeletal defects. ( 22514587 )
2012
47
Adams-Oliver syndrome and familial MYH9 mutation. ( 22631568 )
2012
48
Stroke in a child with Adams-Oliver syndrome and mixed diabetic ketoacidosis and hyperglycemic hyperosmolar syndrome. ( 22768669 )
2012
49
RBPJ mutations identified in two families affected by Adams-Oliver syndrome. ( 22883147 )
2012
50
Peripheral ischemic retinopathy in Adams-Oliver syndrome. ( 22893088 )
2012

Variations for Oliver Syndrome

Expression for Oliver Syndrome

Search GEO for disease gene expression data for Oliver Syndrome.

Pathways for Oliver Syndrome

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 NOTCH1 RBPJ

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 9.81 DLL4 NOTCH1 RBPJ
2 Notch signaling pathway GO:0007219 9.75 DLL4 NOTCH1 RBPJ
3 negative regulation of cell differentiation GO:0045596 9.67 NOTCH1 RBPJ
4 cell fate commitment GO:0045165 9.67 NOTCH1 RBPJ
5 negative regulation of catalytic activity GO:0043086 9.67 NOTCH1 UGT1A1
6 humoral immune response GO:0006959 9.66 NOTCH1 RBPJ
7 outflow tract morphogenesis GO:0003151 9.66 NOTCH1 RBPJ
8 negative regulation of cold-induced thermogenesis GO:0120163 9.65 NOTCH1 RBPJ
9 animal organ regeneration GO:0031100 9.65 NOTCH1 UGT1A1
10 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.65 DLL4 NOTCH1
11 regulation of neurogenesis GO:0050767 9.64 DLL4 NOTCH1
12 ventricular septum morphogenesis GO:0060412 9.63 NOTCH1 RBPJ
13 epithelial to mesenchymal transition GO:0001837 9.63 NOTCH1 RBPJ
14 positive regulation of cardiac muscle cell proliferation GO:0060045 9.62 NOTCH1 RBPJ
15 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.62 DLL4 NOTCH1
16 positive regulation of BMP signaling pathway GO:0030513 9.61 NOTCH1 RBPJ
17 blood vessel remodeling GO:0001974 9.61 DLL4 RBPJ
18 aortic valve morphogenesis GO:0003180 9.6 DLL4 NOTCH1
19 negative regulation of ossification GO:0030279 9.59 NOTCH1 RBPJ
20 positive regulation of transcription of Notch receptor target GO:0007221 9.58 NOTCH1 RBPJ
21 positive regulation of Notch signaling pathway GO:0045747 9.58 DLL4 NOTCH1 RBPJ
22 inflammatory response to antigenic stimulus GO:0002437 9.57 NOTCH1 RBPJ
23 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.56 NOTCH1 RBPJ
24 cardiac left ventricle morphogenesis GO:0003214 9.55 NOTCH1 RBPJ
25 cardiac ventricle morphogenesis GO:0003208 9.54 DLL4 NOTCH1
26 dorsal aorta morphogenesis GO:0035912 9.52 DLL4 RBPJ
27 pericardium morphogenesis GO:0003344 9.51 DLL4 NOTCH1
28 cardiac atrium morphogenesis GO:0003209 9.49 DLL4 NOTCH1
29 interleukin-4 secretion GO:0072602 9.48 NOTCH1 RBPJ
30 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.46 NOTCH1 RBPJ
31 endocardium development GO:0003157 9.43 NOTCH1 RBPJ
32 auditory receptor cell fate commitment GO:0009912 9.37 NOTCH1 RBPJ
33 regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation GO:0003256 9.32 NOTCH1 RBPJ
34 blood vessel lumenization GO:0072554 9.26 DLL4 RBPJ
35 endocardium morphogenesis GO:0003160 9.16 NOTCH1 RBPJ
36 ventricular trabecula myocardium morphogenesis GO:0003222 9.13 DLL4 NOTCH1 RBPJ
37 Notch signaling involved in heart development GO:0061314 8.8 DLL4 NOTCH1 RBPJ

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 NOTCH1 UGT1A1
2 Notch binding GO:0005112 8.62 DLL4 NOTCH1

Sources for Oliver Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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