MCID: OLV002
MIFTS: 43

Oliver Syndrome

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

Aliases & Classifications for Oliver Syndrome

MalaCards integrated aliases for Oliver Syndrome:

Name: Oliver Syndrome 54 50 56 69
Postaxial Polydactyly-Intellectual Disability Syndrome 56
Postaxial Polydactyly Mental Retardation 50

Characteristics:

Orphanet epidemiological data:

56
oliver syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
oliver syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 258200
Orphanet 56 ORPHA2920
UMLS via Orphanet 70 C1850320
ICD10 via Orphanet 34 Q87.2

Summaries for Oliver Syndrome

NIH Rare Diseases : 50 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. last updated: 3/10/2010

MalaCards based summary : Oliver Syndrome, also known as postaxial polydactyly-intellectual disability syndrome, is related to adams-oliver syndrome and adams-oliver syndrome 3, and has symptoms including intellectual disability and postaxial hand polydactyly. An important gene associated with Oliver Syndrome is NOTCH1 (Notch 1), and among its related pathways/superpathways are Notch signaling pathway (KEGG) and Th17 cell differentiation. The drugs Heparin and calcium heparin have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and myeloid.

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)
id Related Disease Score Top Affiliating Genes
1 adams-oliver syndrome 12.3
2 adams-oliver syndrome 3 12.2
3 adams-oliver syndrome 4 12.1
4 adams-oliver syndrome 5 12.1
5 adams-oliver syndrome 6 12.1
6 adams-oliver syndrome 1 12.1
7 adams-oliver syndrome 2 12.1
8 hypothyroidism postaxial polydactyly mental retardation 12.1
9 sbbyss syndrome 11.1
10 bardet-biedl syndrome 7 11.0
11 aplasia cutis congenita, nonsyndromic 10.8
12 autosomal dominant deafness-onychodystrophy syndrome 10.8
13 aplasia cutis congenita 10.0
14 pontocerebellar hypoplasia type 2d 10.0 EOGT RBPJ
15 hajdu-cheney syndrome 10.0 NOTCH1 RBPJ
16 mental retardation with language impairment and with or without autistic features 10.0 EOGT RBPJ
17 cutis marmorata telangiectatica congenita 9.8
18 periventricular leukomalacia 9.7
19 epilepsy 9.7
20 cataract 9.7
21 leukomalacia 9.7
22 hepatoportal sclerosis 9.7
23 bardet-biedl syndrome 6 9.7 NOTCH1 RBPJ
24 microcephaly 9.6
25 ischemic retinopathy 9.6
26 hemiplegia 9.6
27 optic disk drusen 9.6
28 vascular disease 9.6
29 cerebritis 9.6
30 neuronitis 9.6
31 polymicrogyria 9.6
32 pulmonary hypertension 9.6
33 dilated cardiomyopathy 9.6
34 leukemia 9.6
35 limb reduction defect 9.6
36 cardiomyopathy 9.6
37 portal hypertension 9.6
38 angelucci's syndrome 9.6 ARHGAP31 EOGT
39 aplasia cutis congenita recessive 8.0 ARHGAP31 DLL4 DOCK6 EOGT NOTCH1 RBPJ
40 baraitser-winter syndrome 7.5 ARHGAP31 DLL4 DOCK6 EOGT NOTCH1 RBPJ
41 trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet 6.9 AOS ARHGAP31 DLL4 DOCK6 EOGT NOTCH1

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



Diseases related to Oliver Syndrome

Symptoms & Phenotypes for Oliver Syndrome

Symptoms via clinical synopsis from OMIM:

54

Neuro:
mental retardation

Limbs:
postaxial polydactyly


Clinical features from OMIM:

258200

Human phenotypes related to Oliver Syndrome:

32
id Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 postaxial hand polydactyly 32 HP:0001162

Drugs & Therapeutics for Oliver Syndrome

Drugs for Oliver Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
2 calcium heparin Phase 4
3
Ramipril Approved Phase 3 87333-19-5 5362129
4 Angiotensin-Converting Enzyme Inhibitors Phase 3
5 Antihypertensive Agents Phase 3
6 HIV Protease Inhibitors Phase 3
7
protease inhibitors Phase 3
8
Spironolactone Approved 1952-01-7, 52-01-7 5833
9
Glucosamine Approved, Nutraceutical 3416-24-8 439213
10 insulin
11 Insulin, Globin Zinc
12 diuretics
13 Diuretics, Potassium Sparing
14 Hormone Antagonists
15 Hormones
16 Hormones, Hormone Substitutes, and Hormone Antagonists
17 Hydroxymethylglutaryl-CoA Reductase Inhibitors
18 Mineralocorticoid Receptor Antagonists
19 Mineralocorticoids
20 Natriuretic Agents
21 Anticoagulants
22 Antimetabolites
23 Fibrinolytic Agents
24 Glucuronyl glucosamine glycan sulfate
25 Hypoglycemic Agents
26 Hypolipidemic Agents
27 Lipid Regulating Agents
28 Pharmaceutical Solutions
29 Cola Nutraceutical

Interventional clinical trials:

(show all 23)

id Name Status NCT ID Phase Drugs
1 Aqueous Flare of a Hydrophobic Acrylic Single-piece Open-loop IOL With Modified Material Surface Properties Completed NCT01767012 Phase 4
2 Efficacy and Safety Study to Delay Renal Failure in Children With Alport Syndrome Recruiting NCT01485978 Phase 3 Ramipril;placebo to ramipril;Ramipril
3 SUBLIVAC® Birch PROBE Study Completed NCT00932607 Phase 2 sublingual immunotherapy
4 Study of DCC-3014 in Patients With Advanced Malignancies Recruiting NCT03069469 Phase 1 DCC-3014
5 Methods to Manage Intra-operative Floppy-iris Syndrome and Poor Pupil Dilation in Cataract Surgery Unknown status NCT01778959
6 Comparison of the Capsular Stability With Two Different IOL Models in Patients With Pseudoexfoliation Syndrome: an Exploratory Study Unknown status NCT02155478
7 Natural History Study of Fungal Infections of the Blood in Patients With Cancer or in Patients Who Have Undergone a Stem Cell Transplant Unknown status NCT00445952
8 Effect of Brown Rice on the Risk Factors for Metabolic Syndrome Completed NCT02321553
9 A Trial of Patients With a Charles Bonnet Syndrome Completed NCT03148249
10 CMR in the Assessment of Patient With ACS in the Emergency Room Completed NCT00564382
11 Canadian Health Advanced By Nutrition and Graded Exercise Completed NCT01616563
12 NIRS Predict Low Cardiac Output State in Neonates and Infants in Cardiac Surgery Completed NCT01849120
13 Impact of Incision Size and Architecture on Wound Stability and Astigmatism in Cataract Surgery: an Exploratory Study Completed NCT01778998
14 Phenotyping the Chronic Respiratory Diseases (CRD) in Ho Chi Minh City, Vietnam Completed NCT02517983
15 European Alport Therapy Registry - European Initiative Towards Delaying Renal Failure in Alport Syndrome Recruiting NCT02378805 ACE-inhibitor;AT1-inhibitor;HMG-Coenzyme inhibitor (statin);Spironolactone;Paricalcitol
16 Relationship of Intra-Epidermal Nerve Fibre Density (IENFD) and Structure to Chronic Post-Mastectomy Pain Syndrome (PMPS) Recruiting NCT02919891
17 Characteristics and Limitations of Intraoperative OCT Supported Membrane Peeling in Macular Diseases Recruiting NCT02683694
18 Assessing the Efficacy of CardiOGoniometry (CGM) to Localise the Culprit Vessel in Mixed Vessel Disease Non-ST elevatIon Myocardial infarcTION (NSTEMI) Recruiting NCT02803931
19 Immunophenotyping From Blood of Patients Suffering From Chronic Degenerating Joint Diseases and Receiving LDRT Recruiting NCT02653079
20 Long-term Observation of PAP-therapy With Telemonitoring: Telemedicine Registry TelePAP Recruiting NCT03043716
21 Assessment of the Capability of PulmoVista 500 to Continuously Monitor Changes of Ventilation Over Time Recruiting NCT03076983
22 Registry Study on Patient Characteristics, Biological Disease Profile and Clinical Outcome in Acute Myeloid Leukemia and Related Neoplasms, and Higher Risk Myelodysplastic Syndrome - The Biology and Outcome (BiO)-Project Recruiting NCT01252485
23 Post-void Bladder Scanning in Acute Cauda Equina Syndrome Not yet recruiting NCT02806167

Search NIH Clinical Center for Oliver Syndrome

Genetic Tests for Oliver Syndrome

Anatomical Context for Oliver Syndrome

MalaCards organs/tissues related to Oliver Syndrome:

39
Bone, Brain, Myeloid, Heart, Eye

Publications for Oliver Syndrome

Articles related to Oliver Syndrome:

(show top 50) (show all 117)
id Title Authors Year
1
Adams-Oliver Syndrome with Unusual Central Nervous System Findings and an Extrahepatic Portosystemic Shunt. ( 28706620 )
2017
2
Use of an epidermal growth factor-infused foam dressing in a complicated case of Adams-Oliver syndrome. ( 28598754 )
2017
3
Mechanism of cell-intrinsic adaptation to Adams-Oliver Syndrome gene DOCK6 disruption highlights ubiquitin-like modifier ISG15 as a regulator of RHO GTPases. ( 28287327 )
2017
4
Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. ( 28160419 )
2017
5
Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome. ( 28446798 )
2017
6
Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations. ( 28884918 )
2017
7
Corrigendum: Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome. ( 28839276 )
2017
8
Adams-Oliver Syndrome: A Case with Full Expression. ( 27433307 )
2016
9
Distal Limb Defects and Aplasia Cutis: Adams-Oliver Syndrome. ( 27178874 )
2016
10
Adams-Oliver syndrome associated with gastrointestinal malformations. ( 27888223 )
2016
11
Multiple tics in a patient with Adams-Oliver syndrome. ( 25716509 )
2015
12
Adams Oliver Syndrome. ( 26244971 )
2015
13
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. ( 25963545 )
2015
14
Cardiovascular malformations in Adams-Oliver syndrome. ( 25885069 )
2015
15
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. ( 26457590 )
2015
16
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
17
DLL4 loss-of-function heterozygous mutations cause Adams-Oliver syndrome. ( 26419402 )
2015
18
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome. ( 26299364 )
2015
19
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. ( 25824905 )
2015
20
Adams-Oliver Syndrome: A Case Report. ( 25556654 )
2014
21
Mutations in NOTCH1 cause Adams-Oliver syndrome. ( 25132448 )
2014
22
Severe phenotype in two half-sibs with Adams Oliver syndrome. ( 24862819 )
2014
23
Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations. ( 24668619 )
2014
24
Adams-Oliver Syndrome - Follow-up of a Large Scalp Defect. ( 24515817 )
2014
25
Adams-Oliver syndrome. ( 24906278 )
2014
26
Adams-Oliver syndrome in a newborn infant. ( 24697559 )
2014
27
Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations. ( 25091416 )
2014
28
Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome. ( 23613382 )
2013
29
Unique variant of Adams-Oliver syndrome with dilated cardiomyopathy and heart block. ( 23910800 )
2013
30
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
31
Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase. ( 23860037 )
2013
32
Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. ( 23522784 )
2013
33
Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family. ( 24505229 )
2013
34
Adams-Oliver syndrome: new evidence in variable expressivity? ( 24372423 )
2013
35
Adams-Oliver syndrome. ( 24320818 )
2013
36
Parental allografts in the management of Adams-Oliver syndrome. ( 23740178 )
2013
37
Peripheral ischemic retinopathy in Adams-Oliver syndrome. ( 22893088 )
2012
38
Adams-Oliver syndrome and portal hypertension: fortuitous association or common mechanism? ( 22307742 )
2012
39
Adams-Oliver syndrome and familial MYH9 mutation. ( 22631568 )
2012
40
Stroke in a child with Adams-Oliver syndrome and mixed diabetic ketoacidosis and hyperglycemic hyperosmolar syndrome. ( 22768669 )
2012
41
Adams-Oliver Syndrome. A case with isolated aplasia cutis congenita and skeletal defects. ( 22514587 )
2012
42
RBPJ mutations identified in two families affected by Adams-Oliver syndrome. ( 22883147 )
2012
43
Adams-Oliver syndrome associated with bilateral anterior polar cataracts and optic disk drusen. ( 21641251 )
2011
44
Adams-Oliver syndrome, a family with dominant inheritance and a severe phenotype. ( 21785343 )
2011
45
Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. ( 21820096 )
2011
46
Two different management modalities in a two sibling case report of Adams Oliver syndrome. ( 22670005 )
2011
47
Do children with Adams-Oliver syndrome require endocrine follow-up? New information on the phenotype and management. ( 20560985 )
2010
48
Herniation of the brain after conservative treatment of a large congenital skull defect in an infant with Adams-Oliver syndrome. ( 20920732 )
2010
49
Adams Oliver syndrome in association with neurological deficit. ( 20406727 )
2010
50
A case of adams-oliver syndrome. ( 20548894 )
2010

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)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.24 DLL4 NOTCH1 RBPJ
2
Show member pathways
12.22 DLL4 NOTCH1 RBPJ
3 11.8 DLL4 NOTCH1 RBPJ
4
Show member pathways
11.73 DLL4 NOTCH1 RBPJ
5
Show member pathways
11.48 DLL4 NOTCH1 RBPJ
6 11.18 NOTCH1 RBPJ
7 11.14 NOTCH1 RBPJ
8 11.14 DLL4 NOTCH1 RBPJ
9 11.13 NOTCH1 RBPJ
10 10.98 NOTCH1 RBPJ
11 10.91 ARHGAP31 DOCK6
12 10.51 DLL4 NOTCH1
13 10.23 DLL4 NOTCH1 RBPJ

GO Terms for Oliver Syndrome

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

id 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 35)
id Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.84 DLL4 NOTCH1 RBPJ
2 angiogenesis GO:0001525 9.79 DLL4 NOTCH1 RBPJ
3 Notch signaling pathway GO:0007219 9.73 DLL4 NOTCH1 RBPJ
4 liver development GO:0001889 9.67 NOTCH1 UGT1A1
5 keratinocyte differentiation GO:0030216 9.66 NOTCH1 RBPJ
6 negative regulation of cell differentiation GO:0045596 9.65 NOTCH1 RBPJ
7 cell fate commitment GO:0045165 9.65 NOTCH1 RBPJ
8 humoral immune response GO:0006959 9.65 NOTCH1 RBPJ
9 animal organ regeneration GO:0031100 9.64 NOTCH1 UGT1A1
10 epithelial to mesenchymal transition GO:0001837 9.64 NOTCH1 RBPJ
11 positive regulation of cardiac muscle cell proliferation GO:0060045 9.63 NOTCH1 RBPJ
12 positive regulation of BMP signaling pathway GO:0030513 9.63 NOTCH1 RBPJ
13 positive regulation of Notch signaling pathway GO:0045747 9.62 DLL4 NOTCH1
14 blood vessel remodeling GO:0001974 9.62 DLL4 RBPJ
15 regulation of neurogenesis GO:0050767 9.61 DLL4 NOTCH1
16 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.6 DLL4 NOTCH1
17 negative regulation of ossification GO:0030279 9.59 NOTCH1 RBPJ
18 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.58 NOTCH1 RBPJ
19 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.58 DLL4 NOTCH1
20 inflammatory response to antigenic stimulus GO:0002437 9.57 NOTCH1 RBPJ
21 cardiac ventricle morphogenesis GO:0003208 9.55 DLL4 NOTCH1
22 cardiac left ventricle morphogenesis GO:0003214 9.54 NOTCH1 RBPJ
23 dorsal aorta morphogenesis GO:0035912 9.52 DLL4 RBPJ
24 pericardium morphogenesis GO:0003344 9.51 DLL4 NOTCH1
25 cardiac atrium morphogenesis GO:0003209 9.49 DLL4 NOTCH1
26 positive regulation of transcription of Notch receptor target GO:0007221 9.48 NOTCH1 RBPJ
27 interleukin-4 secretion GO:0072602 9.46 NOTCH1 RBPJ
28 endocardium development GO:0003157 9.43 NOTCH1 RBPJ
29 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.4 NOTCH1 RBPJ
30 auditory receptor cell fate commitment GO:0009912 9.37 NOTCH1 RBPJ
31 regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation GO:0003256 9.32 NOTCH1 RBPJ
32 endocardium morphogenesis GO:0003160 9.26 NOTCH1 RBPJ
33 blood vessel lumenization GO:0072554 9.16 DLL4 RBPJ
34 ventricular trabecula myocardium morphogenesis GO:0003222 9.13 DLL4 NOTCH1 RBPJ
35 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:

id 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
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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