MCID: ADM011
MIFTS: 50

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 50 24 25 56 29 14
Adams Oliver Syndrome 12 50 42 69
Aos 50 24 25 56
Congenital Scalp Defects with Distal Limb Reduction Anomalies 50 25 56
Aplasia Cutis Congenita with Terminal Transverse Limb Defects 23 25
Congenital Scalp Defects with Distal Limb Anomalies 50 56
Limb, Scalp and Skull Defects 50 56
Absence Defect of Limbs, Scalp, and Skull 25
Limb Scalp and Skull Defects 50

Characteristics:

Orphanet epidemiological data:

56
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 : 50 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 adams-oliver syndrome 3 and adams-oliver syndrome 4, and has symptoms including failure to thrive, strabismus and seizures. An important gene associated with Adams-Oliver Syndrome is DLL4 (Delta Like Canonical Notch Ligand 4), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Wnt / Hedgehog / Notch. Affiliated tissues include skin, heart and bone.

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

Genetics Home Reference : 25 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.

GeneReviews: NBK355754

Related Diseases for Adams-Oliver Syndrome

Diseases in the Adams-Oliver Syndrome family:

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

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

(show all 38)
id Related Disease Score Top Affiliating Genes
1 adams-oliver syndrome 3 12.5
2 adams-oliver syndrome 4 12.5
3 adams-oliver syndrome 5 12.5
4 adams-oliver syndrome 6 12.5
5 adams-oliver syndrome 1 12.5
6 adams-oliver syndrome 2 12.5
7 aplasia cutis congenita, nonsyndromic 11.1
8 autosomal dominant deafness-onychodystrophy syndrome 11.1
9 oliver syndrome 10.9
10 pontocerebellar hypoplasia type 2d 10.4 EOGT RBPJ
11 aplasia cutis congenita 10.4
12 mental retardation with language impairment and with or without autistic features 10.4 EOGT RBPJ
13 cutis marmorata telangiectatica congenita 10.1
14 cataract 10.1
15 hepatoportal sclerosis 10.1
16 periventricular leukomalacia 10.1
17 epilepsy 10.1
18 leukomalacia 10.1
19 angelucci's syndrome 10.0 ARHGAP31 EOGT
20 limb reduction defect 9.9
21 dilated cardiomyopathy 9.9
22 cardiomyopathy 9.9
23 leukemia 9.9
24 portal hypertension 9.9
25 ischemic retinopathy 9.9
26 microcephaly 9.9
27 hemiplegia 9.9
28 optic disk drusen 9.9
29 vascular disease 9.9
30 cerebritis 9.9
31 neuronitis 9.9
32 polymicrogyria 9.9
33 pulmonary hypertension 9.9
34 myofibromatosis, infantile 2 9.8 EGF NOTCH1
35 nonsyndromic deafness 9.7 EOGT POMGNT2 ZC4H2
36 aplasia cutis congenita recessive 9.4 ARHGAP31 DLL4 DOCK6 EOGT NOTCH1 RBPJ
37 trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet 9.1 ARHGAP31 DLL4 DOCK6 EOGT NOTCH1 RBPJ
38 baraitser-winter syndrome 5.0 ARHGAP31 CDC42 DLL4 DOCK6 EGF EOGT

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:

56 32 (show all 49)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 56 32 hallmark (90%) Very frequent (99-80%) HP:0001508
2 strabismus 56 32 frequent (33%) Frequent (79-30%) HP:0000486
3 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 hypertonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001276
5 hydrocephalus 56 32 frequent (33%) Frequent (79-30%) HP:0000238
6 thrombocytopenia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001873
7 leukopenia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001882
8 alopecia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001596
9 sparse hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0008070
10 premature birth 56 32 occasional (7.5%) Occasional (29-5%) HP:0001622
11 microphthalmia 56 32 frequent (33%) Frequent (79-30%) HP:0000568
12 cutis marmorata 56 32 hallmark (90%) Very frequent (99-80%) HP:0000965
13 intellectual disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001249
14 cataract 56 32 frequent (33%) Frequent (79-30%) HP:0000518
15 tetralogy of fallot 56 32 frequent (33%) Frequent (79-30%) HP:0001636
16 finger syndactyly 56 32 frequent (33%) Frequent (79-30%) HP:0006101
17 cirrhosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001394
18 hemiparesis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001269
19 portal hypertension 56 32 occasional (7.5%) Occasional (29-5%) HP:0001409
20 ascites 56 32 occasional (7.5%) Occasional (29-5%) HP:0001541
21 encephalocele 56 32 occasional (7.5%) Occasional (29-5%) HP:0002084
22 talipes 56 32 frequent (33%) Frequent (79-30%) HP:0001883
23 arteriovenous malformation 56 32 occasional (7.5%) Occasional (29-5%) HP:0100026
24 aplasia cutis congenita 56 32 hallmark (90%) Very frequent (99-80%) HP:0001057
25 periventricular leukomalacia 56 32 occasional (7.5%) Occasional (29-5%) HP:0006970
26 split hand 56 32 frequent (33%) Frequent (79-30%) HP:0001171
27 porencephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002132
28 gastrointestinal hemorrhage 56 32 occasional (7.5%) Occasional (29-5%) HP:0002239
29 pulmonary artery atresia 56 32 frequent (33%) Frequent (79-30%) HP:0004935
30 eeg abnormality 56 32 occasional (7.5%) Occasional (29-5%) HP:0002353
31 abnormality of the metacarpal bones 56 32 frequent (33%) Frequent (79-30%) HP:0001163
32 congenital hepatic fibrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002612
33 abnormality of the pulmonary valve 56 32 frequent (33%) Frequent (79-30%) HP:0001641
34 esophageal varix 56 32 occasional (7.5%) Occasional (29-5%) HP:0002040
35 short distal phalanx of finger 56 32 frequent (33%) Frequent (79-30%) HP:0009882
36 absent toe 56 32 hallmark (90%) Very frequent (99-80%) HP:0010760
37 hypoplastic fingernail 56 32 occasional (7.5%) Occasional (29-5%) HP:0001804
38 absent hand 56 32 hallmark (90%) Very frequent (99-80%) HP:0004050
39 aplastic/hypoplastic toenail 56 32 occasional (7.5%) Occasional (29-5%) HP:0010624
40 absent fingernail 56 32 occasional (7.5%) Occasional (29-5%) HP:0001817
41 brachydactyly 32 frequent (33%) HP:0001156
42 pulmonary hypertension 56 Occasional (29-5%)
43 pulmonary arterial hypertension 32 occasional (7.5%) HP:0002092
44 aplasia/hypoplasia of the skin 56 Very frequent (99-80%)
45 brachydactyly syndrome 56 Frequent (79-30%)
46 abnormality of the upper limb 56 Very frequent (99-80%)
47 abnormality of the lower limb 56 Very frequent (99-80%)
48 skull defect 56 Very frequent (99-80%)
49 calvarial skull defect 32 hallmark (90%) HP:0001362

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:

id Genetic test Affiliating Genes
1 Adams-Oliver Syndrome 29 24

Anatomical Context for Adams-Oliver Syndrome

MalaCards organs/tissues related to Adams-Oliver Syndrome:

39
Skin, Heart, Bone, Brain, Eye

Publications for Adams-Oliver Syndrome

Articles related to Adams-Oliver Syndrome:

(show top 50) (show all 116)
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 Adams-Oliver Syndrome

ClinVar genetic disease variations for Adams-Oliver Syndrome:

6
id 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

GO Terms for Adams-Oliver Syndrome

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

(show all 31)
id Name GO ID Score Top Affiliating Genes
1 small GTPase mediated signal transduction GO:0007264 9.81 ARHGAP31 CDC42 DOCK6
2 Notch signaling pathway GO:0007219 9.78 DLL4 NOTCH1 RBPJ
3 blood vessel remodeling GO:0001974 9.65 DLL4 RBPJ
4 negative regulation of epidermal growth factor receptor signaling pathway GO:0042059 9.65 CDC42 EGF
5 regulation of neurogenesis GO:0050767 9.64 DLL4 NOTCH1
6 hair follicle morphogenesis GO:0031069 9.63 CDC42 NOTCH1
7 protein O-linked glycosylation GO:0006493 9.63 EOGT OGT POMGNT2
8 sprouting angiogenesis GO:0002040 9.62 CDC42 NOTCH1
9 cellular response to vascular endothelial growth factor stimulus GO:0035924 9.62 DLL4 NOTCH1
10 negative regulation of ossification GO:0030279 9.61 NOTCH1 RBPJ
11 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.6 NOTCH1 RBPJ
12 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.59 DLL4 NOTCH1
13 inflammatory response to antigenic stimulus GO:0002437 9.58 NOTCH1 RBPJ
14 cardiac ventricle morphogenesis GO:0003208 9.58 DLL4 NOTCH1
15 cardiac left ventricle morphogenesis GO:0003214 9.57 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 auditory receptor cell fate commitment GO:0009912 9.43 NOTCH1 RBPJ
26 regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation GO:0003256 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

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

id 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
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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