MCID: ADM011
MIFTS: 52

Adams-Oliver Syndrome

Categories: Rare diseases, Genetic diseases, Bone diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Adams-Oliver Syndrome

MalaCards integrated aliases for Adams-Oliver Syndrome:

Name: Adams-Oliver Syndrome 12 23 49 24 55 36 28 14
Adams Oliver Syndrome 12 49 41 69
Congenital Scalp Defects with Distal Limb Reduction Anomalies 49 24 55
Aos 49 24 55
Aplasia Cutis Congenita with Terminal Transverse Limb Defects 23 24
Congenital Scalp Defects with Distal Limb Anomalies 49 55
Limb, Scalp and Skull Defects 49 55
Absence Defect of Limbs, Scalp, and Skull 24
Limb Scalp and Skull Defects 49

Characteristics:

Orphanet epidemiological data:

55
adams-oliver syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal;

GeneReviews:

23
Penetrance Familial autosomal dominant aos typically shows decreased penetrance...

Classifications:



Summaries for Adams-Oliver Syndrome

NIH Rare Diseases : 49 Adams-Oliver syndrome (AOS) is a rare disease characterized by an abnormality of skin development (areas of missing skin on the scalp called aplasia cutis congenita) and malformations of the hands and feet (terminal transverse limbs defects). The aplasia cutis may involve only the skin or include the skull under the skin. The terminal transverse limb defects may include webbed fingers or toes (syndactyly) and short or missing fingers or toes (brachydactyly or oligodactyly, respectively). Other signs and symptoms may include additional skeletal abnormalities of the limbs; cutis marmorata telangiectatica congenita (a blood vessel disorder); pulmonary hypertension; heart defects; and neurological problems. Severity can vary greatly among people with the syndrome and may be lethal in some cases. AOS is caused by mutations in any of six known genes. It may be inherited in an autosomal dominant or autosomal recessive manner, depending on the genetic cause. In some cases, the genetic cause is unknown. Treatment depends on the severity and specific features in each person, and often involves a team of specialists. Last updated: 3/13/2017

MalaCards based summary : Adams-Oliver Syndrome, also known as adams oliver syndrome, is related to oliver syndrome and aplasia cutis congenita, and has symptoms including hydrocephalus, strabismus and cataract. An important gene associated with Adams-Oliver Syndrome is DLL4 (Delta Like Canonical Notch Ligand 4), and among its related pathways/superpathways are Notch signaling pathway and PI3K-Akt signaling pathway. Affiliated tissues include skin, heart and bone.

Genetics Home Reference : 24 Adams-Oliver syndrome is a rare condition that is present at birth. The primary features are an abnormality in skin development (called aplasia cutis congenita) and malformations of the limbs. A variety of other features can occur in people with Adams-Oliver syndrome.

Disease Ontology : 12 A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs.

GeneReviews: NBK355754

Related Diseases for Adams-Oliver Syndrome

Diseases in the Adams-Oliver Syndrome family:

Adams-Oliver Syndrome 1 Adams-Oliver Syndrome 2
Adams-Oliver Syndrome 3 Adams-Oliver Syndrome 4
Adams-Oliver Syndrome 5 Adams-Oliver Syndrome 6

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

(show all 37)
# Related Disease Score Top Affiliating Genes
1 oliver syndrome 30.5 ARHGAP31 DLL4 DOCK6 EOGT NOTCH1 RBPJ
2 aplasia cutis congenita 29.9 ARHGAP31 DLL4 DOCK6 EOGT NOTCH1 RBPJ
3 adams-oliver syndrome 1 12.8
4 adams-oliver syndrome 3 12.7
5 adams-oliver syndrome 4 12.6
6 adams-oliver syndrome 5 12.6
7 adams-oliver syndrome 6 12.6
8 adams-oliver syndrome 2 12.6
9 aplasia cutis congenita, nonsyndromic 11.6
10 autosomal dominant deafness-onychodystrophy syndrome 11.2
11 cutis marmorata telangiectatica congenita 10.2
12 heart disease 10.2
13 cataract 10.1
14 periventricular leukomalacia 10.1
15 epilepsy 10.1
16 cerebritis 10.1
17 leukomalacia 10.1
18 hepatoportal sclerosis 10.1
19 atrial standstill 1 10.0
20 septooptic dysplasia 10.0
21 moyamoya disease 1 10.0
22 diabetes mellitus, ketosis-prone 10.0
23 polymicrogyria, bilateral temporooccipital 10.0
24 pulmonary hypertension 10.0
25 dilated cardiomyopathy 10.0
26 leukemia 10.0
27 portal hypertension 10.0
28 microcephaly 10.0
29 hemiplegia 10.0
30 optic disk drusen 10.0
31 vascular disease 10.0
32 neuronitis 10.0
33 polymicrogyria 10.0
34 limb reduction defect 10.0
35 ischemic retinopathy 10.0
36 walker-warburg syndrome 9.8 EOGT POMGNT2 ZC4H2
37 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 9.7 EGF NOTCH1

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



Diseases related to Adams-Oliver Syndrome

Symptoms & Phenotypes for Adams-Oliver Syndrome

Human phenotypes related to Adams-Oliver Syndrome:

55 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 55 31 frequent (33%) Frequent (79-30%) HP:0000238
2 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
3 cataract 55 31 frequent (33%) Frequent (79-30%) HP:0000518
4 microphthalmia 55 31 frequent (33%) Frequent (79-30%) HP:0000568
5 cutis marmorata 55 31 hallmark (90%) Very frequent (99-80%) HP:0000965
6 aplasia cutis congenita 55 31 hallmark (90%) Very frequent (99-80%) HP:0001057
7 brachydactyly 55 31 frequent (33%) Frequent (79-30%) HP:0001156
8 abnormality of the metacarpal bones 55 31 frequent (33%) Frequent (79-30%) HP:0001163
9 split hand 55 31 frequent (33%) Frequent (79-30%) HP:0001171
10 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
11 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
12 hemiparesis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001269
13 hypertonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001276
14 cirrhosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001394
15 portal hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0001409
16 failure to thrive 55 31 hallmark (90%) Very frequent (99-80%) HP:0001508
17 ascites 55 31 occasional (7.5%) Occasional (29-5%) HP:0001541
18 alopecia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001596
19 premature birth 55 31 occasional (7.5%) Occasional (29-5%) HP:0001622
20 tetralogy of fallot 55 31 frequent (33%) Frequent (79-30%) HP:0001636
21 hypoplastic fingernail 55 31 occasional (7.5%) Occasional (29-5%) HP:0001804
22 absent fingernail 55 31 occasional (7.5%) Occasional (29-5%) HP:0001817
23 thrombocytopenia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001873
24 leukopenia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001882
25 talipes 55 31 frequent (33%) Frequent (79-30%) HP:0001883
26 esophageal varix 55 31 occasional (7.5%) Occasional (29-5%) HP:0002040
27 encephalocele 55 31 occasional (7.5%) Occasional (29-5%) HP:0002084
28 pulmonary arterial hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0002092
29 gastrointestinal hemorrhage 55 31 occasional (7.5%) Occasional (29-5%) HP:0002239
30 eeg abnormality 55 31 occasional (7.5%) Occasional (29-5%) HP:0002353
31 congenital hepatic fibrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002612
32 absent hand 55 31 hallmark (90%) Very frequent (99-80%) HP:0004050
33 pulmonary artery atresia 55 31 frequent (33%) Frequent (79-30%) HP:0004935
34 finger syndactyly 55 31 frequent (33%) Frequent (79-30%) HP:0006101
35 periventricular leukomalacia 55 31 occasional (7.5%) Occasional (29-5%) HP:0006970
36 sparse hair 55 31 hallmark (90%) Very frequent (99-80%) HP:0008070
37 short distal phalanx of finger 55 31 frequent (33%) Frequent (79-30%) HP:0009882
38 aplastic/hypoplastic toenail 55 31 occasional (7.5%) Occasional (29-5%) HP:0010624
39 absent toe 55 31 hallmark (90%) Very frequent (99-80%) HP:0010760
40 arteriovenous malformation 55 31 occasional (7.5%) Occasional (29-5%) HP:0100026
41 skull defect 55 Very frequent (99-80%)
42 abnormality of the pulmonary valve 55 Frequent (79-30%)
43 porencephaly 55 Occasional (29-5%)
44 abnormality of the lower limb 55 Very frequent (99-80%)
45 abnormality of the upper limb 55 Very frequent (99-80%)
46 aplasia/hypoplasia of the skin 55 Very frequent (99-80%)
47 calvarial skull defect 31 hallmark (90%) HP:0001362
48 abnormal pulmonary valve morphology 31 frequent (33%) HP:0001641
49 porencephalic cyst 31 occasional (7.5%) HP:0002132

UMLS symptoms related to Adams-Oliver Syndrome:


seizures

Drugs & Therapeutics for Adams-Oliver Syndrome

Search Clinical Trials , NIH Clinical Center for Adams-Oliver Syndrome

Cochrane evidence based reviews: adams oliver syndrome

Genetic Tests for Adams-Oliver Syndrome

Genetic tests related to Adams-Oliver Syndrome:

# Genetic test Affiliating Genes
1 Adams-Oliver Syndrome 28

Anatomical Context for Adams-Oliver Syndrome

MalaCards organs/tissues related to Adams-Oliver Syndrome:

38
Skin, Heart, Bone, Brain, Eye

Publications for Adams-Oliver Syndrome

Articles related to Adams-Oliver Syndrome:

(show top 50) (show all 118)
# 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 Adams-Oliver Syndrome

ClinVar genetic disease variations for Adams-Oliver Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EOGT NM_001278689.1(EOGT): c.1074delA (p.Gly359Aspfs) deletion Pathogenic/Likely pathogenic rs587776994 GRCh37 Chromosome 3, 69037455: 69037455
2 DLL4 NM_019074.3(DLL4): c.361G> C (p.Ala121Pro) single nucleotide variant Pathogenic rs796065350 GRCh38 Chromosome 15, 40930649: 40930649
3 DLL4 NM_019074.3(DLL4): c.556C> T (p.Arg186Cys) single nucleotide variant Pathogenic rs796065348 GRCh38 Chromosome 15, 40931664: 40931664
4 DLL4 NM_019074.3(DLL4): c.583T> C (p.Phe195Leu) single nucleotide variant Pathogenic rs796065351 GRCh38 Chromosome 15, 40931691: 40931691
5 DLL4 NM_019074.3(DLL4): c.799C> A (p.Pro267Thr) single nucleotide variant Pathogenic rs796065349 GRCh38 Chromosome 15, 40932396: 40932396
6 DLL4 NM_019074.3(DLL4): c.1168T> C (p.Cys390Arg) single nucleotide variant Pathogenic rs796065347 GRCh38 Chromosome 15, 40935045: 40935045
7 DLL4 NM_019074.3(DLL4): c.1169G> A (p.Cys390Tyr) single nucleotide variant Pathogenic rs796065346 GRCh38 Chromosome 15, 40935046: 40935046
8 DLL4 NM_019074.3(DLL4): c.1365C> G (p.Cys455Trp) single nucleotide variant Pathogenic rs796065345 GRCh38 Chromosome 15, 40936352: 40936352
9 DLL4 NM_019074.3(DLL4): c.1660C> T (p.Gln554Ter) single nucleotide variant Pathogenic rs796065344 GRCh38 Chromosome 15, 40936647: 40936647
10 DLL4 NM_019074.3(DLL4): c.1672C> T (p.Arg558Ter) single nucleotide variant Pathogenic rs61750844 GRCh38 Chromosome 15, 40936659: 40936659

Expression for Adams-Oliver Syndrome

Search GEO for disease gene expression data for Adams-Oliver Syndrome.

Pathways for Adams-Oliver Syndrome

Pathways related to Adams-Oliver Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Notch signaling pathway hsa04330

GO Terms for Adams-Oliver Syndrome

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.93 CDC42 DLL4 EGF RBPJ
2 small GTPase mediated signal transduction GO:0007264 9.81 ARHGAP31 CDC42 DOCK6
3 Notch signaling pathway GO:0007219 9.79 DLL4 NOTCH1 RBPJ
4 canonical Wnt signaling pathway GO:0060070 9.77 CDC42 EGF PORCN
5 regulation of neurogenesis GO:0050767 9.65 DLL4 NOTCH1
6 hair follicle morphogenesis GO:0031069 9.65 CDC42 NOTCH1
7 sprouting angiogenesis GO:0002040 9.64 CDC42 NOTCH1
8 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.64 DLL4 NOTCH1
9 protein O-linked glycosylation GO:0006493 9.63 EOGT OGT POMGNT2
10 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.62 DLL4 NOTCH1
11 negative regulation of ossification GO:0030279 9.62 NOTCH1 RBPJ
12 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.61 NOTCH1 RBPJ
13 inflammatory response to antigenic stimulus GO:0002437 9.6 NOTCH1 RBPJ
14 cardiac ventricle morphogenesis GO:0003208 9.58 DLL4 NOTCH1
15 cardiac left ventricle morphogenesis GO:0003214 9.58 NOTCH1 RBPJ
16 dorsal aorta morphogenesis GO:0035912 9.56 DLL4 RBPJ
17 pericardium morphogenesis GO:0003344 9.55 DLL4 NOTCH1
18 angiogenesis GO:0001525 9.55 DLL4 EGF LAMA5 NOTCH1 RBPJ
19 cardiac atrium morphogenesis GO:0003209 9.54 DLL4 NOTCH1
20 branching morphogenesis of an epithelial tube GO:0048754 9.54 EGF LAMA5 NOTCH1
21 positive regulation of transcription of Notch receptor target GO:0007221 9.52 NOTCH1 RBPJ
22 interleukin-4 secretion GO:0072602 9.51 NOTCH1 RBPJ
23 endocardium development GO:0003157 9.49 NOTCH1 RBPJ
24 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.48 NOTCH1 RBPJ
25 regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation GO:0003256 9.43 NOTCH1 RBPJ
26 auditory receptor cell fate commitment GO:0009912 9.4 NOTCH1 RBPJ
27 endocardium morphogenesis GO:0003160 9.32 NOTCH1 RBPJ
28 blood vessel lumenization GO:0072554 9.26 DLL4 RBPJ
29 ventricular trabecula myocardium morphogenesis GO:0003222 9.13 DLL4 NOTCH1 RBPJ
30 Notch signaling involved in heart development GO:0061314 8.8 DLL4 NOTCH1 RBPJ
31 cell differentiation GO:0030154 10.04 CDC42 DLL4 LAMA5 NELL1 NOTCH1 ZC4H2

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

# Name GO ID Score Top Affiliating Genes
1 transferase activity, transferring glycosyl groups GO:0016757 9.46 EOGT OGT POMGNT2 UGT1A1
2 acetylglucosaminyltransferase activity GO:0008375 9.32 OGT POMGNT2
3 Notch binding GO:0005112 9.26 DLL4 NOTCH1
4 protein N-acetylglucosaminyltransferase activity GO:0016262 8.96 EOGT OGT
5 protein O-GlcNAc transferase activity GO:0097363 8.62 OGT POMGNT2

Sources for Adams-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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