MCID: OLV002
MIFTS: 41

Oliver Syndrome

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

Aliases & Classifications for Oliver Syndrome

MalaCards integrated aliases for Oliver Syndrome:

Name: Oliver Syndrome 53 49 55 69
Postaxial Polydactyly-Intellectual Disability Syndrome 49 55
Postaxial Polydactyly and Mental Retardation 53

Characteristics:

Orphanet epidemiological data:

55
oliver syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
oliver syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 258200
Orphanet 55 ORPHA2920
UMLS via Orphanet 70 C1850320
ICD10 via Orphanet 33 Q87.2
MedGen 39 C1850320
UMLS 69 C1850320

Summaries for Oliver Syndrome

NIH Rare Diseases : 49 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 aplasia cutis congenita, and has symptoms including postaxial hand polydactyly and intellectual disability. 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. Affiliated tissues include brain, bone and heart.

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:

53
Neuro:
mental retardation

Limbs:
postaxial polydactyly


Clinical features from OMIM:

258200

Human phenotypes related to Oliver Syndrome:

31
# Description HPO Frequency HPO Source Accession
1 postaxial hand polydactyly 31 HP:0001162
2 intellectual disability 31 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:

38
Brain, Bone, Heart, Eye

Publications for Oliver Syndrome

Articles related to Oliver Syndrome:

(show top 50) (show all 119)
# Title Authors Year
1
Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations. ( 28884918 )
2017
2
A Case of Adams-Oliver Syndrome. ( 29387678 )
2017
3
Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome. ( 28446798 )
2017
4
Adams-Oliver Syndrome with Unusual Central Nervous System Findings and an Extrahepatic Portosystemic Shunt. ( 28706620 )
2017
5
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
6
Adams-Oliver Syndrome With Moyamoya Disease for Cerebral Revascularisation Surgery. ( 29028653 )
2017
7
Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. ( 28160419 )
2017
8
Use of an epidermal growth factor-infused foam dressing in a complicated case of Adams-Oliver syndrome. ( 28598754 )
2017
9
Corrigendum: Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome. ( 28839276 )
2017
10
Distal Limb Defects and Aplasia Cutis: Adams-Oliver Syndrome. ( 27178874 )
2016
11
Adams-Oliver Syndrome: A Case with Full Expression. ( 27433307 )
2016
12
Adams-Oliver syndrome associated with gastrointestinal malformations. ( 27888223 )
2016
13
Multiple tics in a patient with Adams-Oliver syndrome. ( 25716509 )
2015
14
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. ( 26457590 )
2015
15
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. ( 25824905 )
2015
16
DLL4 loss-of-function heterozygous mutations cause Adams-Oliver syndrome. ( 26419402 )
2015
17
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome. ( 26299364 )
2015
18
Adams Oliver Syndrome. ( 26244971 )
2015
19
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. ( 25963545 )
2015
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
Cardiovascular malformations in Adams-Oliver syndrome. ( 25885069 )
2015
22
Severe phenotype in two half-sibs with Adams Oliver syndrome. ( 24862819 )
2014
23
Mutations in NOTCH1 cause Adams-Oliver syndrome. ( 25132448 )
2014
24
Adams-Oliver syndrome in a newborn infant. ( 24697559 )
2014
25
Adams-Oliver syndrome. ( 24906278 )
2014
26
Adams-Oliver Syndrome - Follow-up of a Large Scalp Defect. ( 24515817 )
2014
27
Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations. ( 25091416 )
2014
28
Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations. ( 24668619 )
2014
29
Adams-Oliver Syndrome: A Case Report. ( 25556654 )
2014
30
Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase. ( 23860037 )
2013
31
Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome. ( 23613382 )
2013
32
Parental allografts in the management of Adams-Oliver syndrome. ( 23740178 )
2013
33
Adams-Oliver syndrome. ( 24320818 )
2013
34
Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. ( 23522784 )
2013
35
Unique variant of Adams-Oliver syndrome with dilated cardiomyopathy and heart block. ( 23910800 )
2013
36
Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family. ( 24505229 )
2013
37
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
38
Adams-Oliver syndrome: new evidence in variable expressivity? ( 24372423 )
2013
39
Adams-Oliver syndrome and portal hypertension: fortuitous association or common mechanism? ( 22307742 )
2012
40
RBPJ mutations identified in two families affected by Adams-Oliver syndrome. ( 22883147 )
2012
41
Adams-Oliver syndrome and familial MYH9 mutation. ( 22631568 )
2012
42
Stroke in a child with Adams-Oliver syndrome and mixed diabetic ketoacidosis and hyperglycemic hyperosmolar syndrome. ( 22768669 )
2012
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, a family with dominant inheritance and a severe phenotype. ( 21785343 )
2011
46
Adams-Oliver syndrome associated with bilateral anterior polar cataracts and optic disk drusen. ( 21641251 )
2011
47
Two different management modalities in a two sibling case report of Adams Oliver syndrome. ( 22670005 )
2011
48
Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. ( 21820096 )
2011
49
A case of adams-oliver syndrome. ( 20548894 )
2010
50
Do children with Adams-Oliver syndrome require endocrine follow-up? New information on the phenotype and management. ( 20560985 )
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)
# 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 11.12 NOTCH1 RBPJ
10 10.96 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:

# 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)
# 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 humoral immune response GO:0006959 9.65 NOTCH1 RBPJ
8 cell fate commitment GO:0045165 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 Notch signaling pathway GO:0045747 9.63 DLL4 NOTCH1
12 positive regulation of cardiac muscle cell proliferation GO:0060045 9.63 NOTCH1 RBPJ
13 positive regulation of BMP signaling pathway GO:0030513 9.62 NOTCH1 RBPJ
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 cell migration involved in sprouting angiogenesis GO:0090051 9.59 DLL4 NOTCH1
18 negative regulation of ossification GO:0030279 9.58 NOTCH1 RBPJ
19 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.58 NOTCH1 RBPJ
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 regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation GO:0003256 9.37 NOTCH1 RBPJ
31 auditory receptor cell fate commitment GO:0009912 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:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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