MCID: OLV002
MIFTS: 41

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 57 53 59 73
Postaxial Polydactyly-Intellectual Disability Syndrome 53 59
Postaxial Polydactyly and Mental Retardation 57

Characteristics:

Orphanet epidemiological data:

59
oliver syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
oliver syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 258200
Orphanet 59 ORPHA2920
UMLS via Orphanet 74 C1850320
ICD10 via Orphanet 34 Q87.2
MedGen 42 C1850320
UMLS 73 C1850320

Summaries for Oliver Syndrome

NIH Rare Diseases : 53 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 1), and among its related pathways/superpathways are Th17 cell differentiation and Wnt / Hedgehog / Notch. Affiliated tissues include brain, bone and heart, and related phenotypes are postaxial hand polydactyly and intellectual disability

Description from OMIM: 258200

Related Diseases for Oliver Syndrome

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:

57
Neuro:
mental retardation

Limbs:
postaxial polydactyly


Clinical features from OMIM:

258200

Human phenotypes related to Oliver Syndrome:

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

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:

41
Brain, Bone, Heart, Eye

Publications for Oliver Syndrome

Articles related to Oliver Syndrome:

(show top 50) (show all 126)
# Title Authors Year
1
Adams-Oliver Syndrome: Limited Expression. ( 29948730 )
2018
2
Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype. ( 29631299 )
2018
3
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. ( 29924900 )
2018
4
Adams Oliver syndrome with cerebellar cortical dysplasia. ( 29680918 )
2018
5
Adams-Oliver Syndrome with Unusual Central Nervous System Findings and an Extrahepatic Portosystemic Shunt. ( 28706620 )
2017
6
A Case of Adams-Oliver Syndrome. ( 29387678 )
2017
7
Adams-Oliver Syndrome With Moyamoya Disease for Cerebral Revascularisation Surgery. ( 29028653 )
2017
8
Use of an epidermal growth factor-infused foam dressing in a complicated case of Adams-Oliver syndrome. ( 28598754 )
2017
9
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
10
Corrigendum: Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome. ( 28839276 )
2017
11
Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations. ( 28884918 )
2017
12
Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. ( 28160419 )
2017
13
Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome. ( 28446798 )
2017
14
Adams-Oliver syndrome associated with gastrointestinal malformations. ( 27888223 )
2016
15
Adams-Oliver Syndrome: A Case with Full Expression. ( 27433307 )
2016
16
Distal Limb Defects and Aplasia Cutis: Adams-Oliver Syndrome. ( 27178874 )
2016
17
Multiple tics in a patient with Adams-Oliver syndrome. ( 25716509 )
2015
18
DLL4 loss-of-function heterozygous mutations cause Adams-Oliver syndrome. ( 26419402 )
2015
19
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. ( 25963545 )
2015
20
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. ( 25824905 )
2015
21
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. ( 26457590 )
2015
22
Cardiovascular malformations in Adams-Oliver syndrome. ( 25885069 )
2015
23
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
24
Adams Oliver Syndrome. ( 26244971 )
2015
25
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome. ( 26299364 )
2015
26
Mutations in NOTCH1 cause Adams-Oliver syndrome. ( 25132448 )
2014
27
Adams-Oliver syndrome. ( 24906278 )
2014
28
Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations. ( 25091416 )
2014
29
Adams-Oliver Syndrome: A Case Report. ( 25556654 )
2014
30
Adams-Oliver Syndrome - Follow-up of a Large Scalp Defect. ( 24515817 )
2014
31
Severe phenotype in two half-sibs with Adams Oliver syndrome. ( 24862819 )
2014
32
Adams-Oliver syndrome in a newborn infant. ( 24697559 )
2014
33
Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations. ( 24668619 )
2014
34
Adams-Oliver syndrome. ( 24320818 )
2013
35
Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase. ( 23860037 )
2013
36
Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family. ( 24505229 )
2013
37
Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. ( 23522784 )
2013
38
Adams-Oliver syndrome: new evidence in variable expressivity? ( 24372423 )
2013
39
Unique variant of Adams-Oliver syndrome with dilated cardiomyopathy and heart block. ( 23910800 )
2013
40
Parental allografts in the management of Adams-Oliver syndrome. ( 23740178 )
2013
41
Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome. ( 23613382 )
2013
42
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
43
Peripheral ischemic retinopathy in Adams-Oliver syndrome. ( 22893088 )
2012
44
Adams-Oliver Syndrome. A case with isolated aplasia cutis congenita and skeletal defects. ( 22514587 )
2012
45
Adams-Oliver syndrome and familial MYH9 mutation. ( 22631568 )
2012
46
Stroke in a child with Adams-Oliver syndrome and mixed diabetic ketoacidosis and hyperglycemic hyperosmolar syndrome. ( 22768669 )
2012
47
Adams-Oliver syndrome and portal hypertension: fortuitous association or common mechanism? ( 22307742 )
2012
48
RBPJ mutations identified in two families affected by Adams-Oliver syndrome. ( 22883147 )
2012
49
Adams-Oliver syndrome, a family with dominant inheritance and a severe phenotype. ( 21785343 )
2011
50
[Adams-Oliver syndrome: case report]. ( 21626769 )
2011

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 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.05 DLL4 NOTCH1 RBPJ
2 11.8 DLL4 NOTCH1 RBPJ
3
Show member pathways
11.73 DLL4 NOTCH1 RBPJ
4
Show member pathways
11.59 DLL4 NOTCH1 RBPJ
5 11.19 NOTCH1 RBPJ
6 11.16 NOTCH1 RBPJ
7 11.14 NOTCH1 RBPJ
8 11.14 DLL4 NOTCH1 RBPJ
9 10.98 NOTCH1 RBPJ
10 10.91 ARHGAP31 DOCK6
11 10.41 DLL4 NOTCH1
12 10.23 DLL4 NOTCH1 RBPJ

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 31)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.81 DLL4 NOTCH1 RBPJ
2 Notch signaling pathway GO:0007219 9.74 DLL4 NOTCH1 RBPJ
3 negative regulation of catalytic activity GO:0043086 9.65 NOTCH1 UGT1A1
4 humoral immune response GO:0006959 9.65 NOTCH1 RBPJ
5 animal organ regeneration GO:0031100 9.64 NOTCH1 UGT1A1
6 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.64 DLL4 NOTCH1
7 epithelial to mesenchymal transition GO:0001837 9.63 NOTCH1 RBPJ
8 positive regulation of cardiac muscle cell proliferation GO:0060045 9.62 NOTCH1 RBPJ
9 positive regulation of BMP signaling pathway GO:0030513 9.62 NOTCH1 RBPJ
10 blood vessel remodeling GO:0001974 9.61 DLL4 RBPJ
11 regulation of neurogenesis GO:0050767 9.61 DLL4 NOTCH1
12 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.6 DLL4 NOTCH1
13 negative regulation of ossification GO:0030279 9.59 NOTCH1 RBPJ
14 positive regulation of transcription of Notch receptor target GO:0007221 9.58 NOTCH1 RBPJ
15 inflammatory response to antigenic stimulus GO:0002437 9.58 NOTCH1 RBPJ
16 positive regulation of Notch signaling pathway GO:0045747 9.58 DLL4 NOTCH1 RBPJ
17 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.56 NOTCH1 RBPJ
18 cardiac left ventricle morphogenesis GO:0003214 9.55 NOTCH1 RBPJ
19 cardiac ventricle morphogenesis GO:0003208 9.54 DLL4 NOTCH1
20 pericardium morphogenesis GO:0003344 9.52 DLL4 NOTCH1
21 dorsal aorta morphogenesis GO:0035912 9.51 DLL4 RBPJ
22 cardiac atrium morphogenesis GO:0003209 9.49 DLL4 NOTCH1
23 interleukin-4 secretion GO:0072602 9.48 NOTCH1 RBPJ
24 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.46 NOTCH1 RBPJ
25 endocardium development GO:0003157 9.43 NOTCH1 RBPJ
26 auditory receptor cell fate commitment GO:0009912 9.37 NOTCH1 RBPJ
27 regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation GO:0003256 9.32 NOTCH1 RBPJ
28 endocardium morphogenesis GO:0003160 9.26 NOTCH1 RBPJ
29 blood vessel lumenization GO:0072554 9.16 DLL4 RBPJ
30 ventricular trabecula myocardium morphogenesis GO:0003222 9.13 DLL4 NOTCH1 RBPJ
31 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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