AOS
MCID: ADM011
MIFTS: 58

Adams-Oliver Syndrome (AOS)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Adams-Oliver Syndrome

MalaCards integrated aliases for Adams-Oliver Syndrome:

Name: Adams-Oliver Syndrome 12 74 25 20 43 58 36 29 6 15 39
Congenital Scalp Defects with Distal Limb Reduction Anomalies 20 43 58
Adams Oliver Syndrome 12 20 71
Aos 20 43 58
Aplasia Cutis Congenita with Terminal Transverse Limb Defects 25 43
Congenital Scalp Defects with Distal Limb Anomalies 20 58
Limb, Scalp and Skull Defects 20 58
Absence Defect of Limbs, Scalp, and Skull 43
Limb Scalp and Skull Defects 20

Characteristics:

Orphanet epidemiological data:

58
adams-oliver syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal;

GeneReviews:

25
Penetrance Familial autosomal dominant aos typically shows decreased penetrance....

Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Adams-Oliver Syndrome

MedlinePlus Genetics : 43 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.Most people with Adams-Oliver syndrome have aplasia cutis congenita, a condition characterized by localized areas of missing skin typically occurring on the top of the head (the skull vertex). In some cases, the bone under the skin is also underdeveloped. Individuals with this condition commonly have scarring and an absence of hair growth in the affected area.Abnormalities of the hands and feet are also common in people with Adams-Oliver syndrome. These most often involve the fingers and toes and can include abnormal nails, fingers or toes that are fused together (syndactyly), and abnormally short or missing fingers or toes (brachydactyly or oligodactyly). In some cases, other bones in the hands, feet, or lower limbs are malformed or missing.Some affected infants have a condition called cutis marmorata telangiectatica congenita. This disorder of the blood vessels causes a reddish or purplish net-like pattern on the skin. In addition, people with Adams-Oliver syndrome can develop high blood pressure in the blood vessels between the heart and the lungs (pulmonary hypertension), which can be life-threatening. Other blood vessel problems and heart defects can occur in affected individuals.In some cases, people with Adams-Oliver syndrome have neurological problems, such as developmental delay, learning disabilities, or abnormalities in the structure of the brain.

MalaCards based summary : Adams-Oliver Syndrome, also known as congenital scalp defects with distal limb reduction anomalies, is related to adams-oliver syndrome 2 and adams-oliver syndrome 1, and has symptoms including seizures An important gene associated with Adams-Oliver Syndrome is NOTCH1 (Notch Receptor 1), and among its related pathways/superpathways are Notch signaling pathway and Th1 and Th2 cell differentiation. Affiliated tissues include skin, heart and eye, and related phenotypes are failure to thrive and absent toe

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

GARD : 20 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.

KEGG : 36 Adams-Oliver syndrome (AOS) is a rare condition defined by the combination of aplasia cutis congenita (ACC), characterized by scalp and skull lesions, and transverse limb abnormalities. Mutations in ARHGAP31 (AOS1), RBPJ (AOS3) and NOTCH1 (AOS5) cause autosomal dominant AOS. Mutations in DOCK6 (AOS2) and EOGT (AOS4) result in autosomal recessive AOS.

Wikipedia : 74 Adams-Oliver syndrome (AOS) is a rare congenital disorder characterized by defects of the scalp and... more...

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 top 50) (show all 146)
# Related Disease Score Top Affiliating Genes
1 adams-oliver syndrome 2 33.4 LOC105372273 DOCK6
2 adams-oliver syndrome 1 33.4 EOGT DOCK6 DLL4 ARHGAP31
3 adams-oliver syndrome 5 33.4 NOTCH1 NALT1 MIR4673 DNLZ
4 aplasia cutis congenita, nonsyndromic 32.8 DLL4 BMS1
5 oliver syndrome 31.8 UGT1A1 RBPJ NOTCH1 MIR4673 LOC105372273 ISG15
6 tetralogy of fallot 30.3 RBPJ NOTCH2 NOTCH1 JAG1
7 adams-oliver syndrome 3 11.9
8 adams-oliver syndrome 4 11.9
9 adams-oliver syndrome 6 11.9
10 polymicrogyria 11.3
11 autosomal dominant deafness-onychodystrophy syndrome 11.2
12 loeys-dietz syndrome 3 10.9
13 progressive supranuclear palsy-progressive non-fluent aphasia syndrome 10.9
14 supravalvular aortic stenosis 10.9
15 progressive non-fluent aphasia 10.9
16 cutis marmorata telangiectatica congenita 10.6
17 brachydactyly 10.5
18 microcephaly 10.5
19 portal hypertension 10.4
20 telangiectasis 10.4
21 hepatoportal sclerosis 10.4
22 nodular regenerative hyperplasia 10.3 NOTCH2 NOTCH1 JAG1
23 stork bite 10.3 RBPJ NOTCH2 JAG1
24 pigmentation disease 10.3 UGT1A1 POGLUT1 POFUT1
25 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.3
26 heart septal defect 10.3
27 alopecia 10.3
28 lacrimal gland adenoid cystic carcinoma 10.3 NOTCH2 NOTCH1
29 endosteal hyperostosis, autosomal dominant 10.3 RBPJ NOTCH2 NOTCH1 LFNG
30 patent ductus arteriosus 1 10.3 NOTCH2 NOTCH1 JAG1
31 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.3 RBPJ NOTCH2 NOTCH1 JAG1 DLL4
32 hajdu-cheney syndrome 10.3 RBPJ NOTCH2 NOTCH1 LFNG JAG1
33 poland syndrome 10.2
34 retinal detachment 10.2
35 chromosome 2q35 duplication syndrome 10.2
36 varicose veins 10.2
37 cryptorchidism, unilateral or bilateral 10.2
38 aortic valve disease 2 10.2
39 alacrima, achalasia, and mental retardation syndrome 10.2
40 pulmonary hypertension 10.2
41 exudative vitreoretinopathy 10.2
42 esophageal varix 10.2
43 clubfoot 10.2
44 oligohydramnios 10.2
45 periventricular leukomalacia 10.2
46 optic disk drusen 10.2
47 atrial heart septal defect 10.2
48 cataract 10.2
49 hypotonia 10.2
50 vitreoretinopathy 10.2

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:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 absent toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010760
3 cutis marmorata 58 31 hallmark (90%) Very frequent (99-80%) HP:0000965
4 sparse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0008070
5 absent hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0004050
6 aplasia cutis congenita 58 31 hallmark (90%) Very frequent (99-80%) HP:0001057
7 calvarial skull defect 31 hallmark (90%) HP:0001362
8 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
9 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
10 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
11 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
12 microphthalmia 58 31 frequent (33%) Frequent (79-30%) HP:0000568
13 tetralogy of fallot 58 31 frequent (33%) Frequent (79-30%) HP:0001636
14 talipes 58 31 frequent (33%) Frequent (79-30%) HP:0001883
15 split hand 58 31 frequent (33%) Frequent (79-30%) HP:0001171
16 abnormal pulmonary valve morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001641
17 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
18 short distal phalanx of finger 58 31 frequent (33%) Frequent (79-30%) HP:0009882
19 abnormality of the metacarpal bones 58 31 frequent (33%) Frequent (79-30%) HP:0001163
20 pulmonary artery atresia 58 31 frequent (33%) Frequent (79-30%) HP:0004935
21 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
22 eeg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0002353
23 hypertonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001276
24 portal hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0001409
25 ascites 58 31 occasional (7.5%) Occasional (29-5%) HP:0001541
26 arteriovenous malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0100026
27 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
28 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
29 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
30 gastrointestinal hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002239
31 esophageal varix 58 31 occasional (7.5%) Occasional (29-5%) HP:0002040
32 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
33 premature birth 58 31 occasional (7.5%) Occasional (29-5%) HP:0001622
34 hypoplastic fingernail 58 31 occasional (7.5%) Occasional (29-5%) HP:0001804
35 encephalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002084
36 congenital hepatic fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002612
37 aplastic/hypoplastic toenail 58 31 occasional (7.5%) Occasional (29-5%) HP:0010624
38 hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001269
39 leukopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001882
40 absent fingernail 58 31 occasional (7.5%) Occasional (29-5%) HP:0001817
41 periventricular leukomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006970
42 seizure 31 occasional (7.5%) HP:0001250
43 porencephalic cyst 31 occasional (7.5%) HP:0002132
44 seizures 58 Occasional (29-5%)
45 aplasia/hypoplasia of the skin 58 Very frequent (99-80%)
46 skull defect 58 Very frequent (99-80%)
47 abnormality of the upper limb 58 Very frequent (99-80%)
48 abnormality of the lower limb 58 Very frequent (99-80%)
49 porencephaly 58 Occasional (29-5%)

UMLS symptoms related to Adams-Oliver Syndrome:


seizures

Drugs & Therapeutics for Adams-Oliver Syndrome

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

Genetic Tests for Adams-Oliver Syndrome

Genetic tests related to Adams-Oliver Syndrome:

# Genetic test Affiliating Genes
1 Adams-Oliver Syndrome 29

Anatomical Context for Adams-Oliver Syndrome

MalaCards organs/tissues related to Adams-Oliver Syndrome:

40
Skin, Heart, Eye, Brain, Bone

Publications for Adams-Oliver Syndrome

Articles related to Adams-Oliver Syndrome:

(show top 50) (show all 229)
# Title Authors PMID Year
1
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome. 61 25 6
26299364 2015
2
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 61 25 6
25963545 2015
3
Mutations in NOTCH1 cause Adams-Oliver syndrome. 25 6 61
25132448 2014
4
Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. 25 6 61
23522784 2013
5
RBPJ mutations identified in two families affected by Adams-Oliver syndrome. 61 25 6
22883147 2012
6
Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. 6 25 61
21565291 2011
7
Adams-Oliver syndrome caused by mutations of the EOGT gene. 6 61
31368252 2019
8
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. 61 6
26457590 2015
9
Adams-Oliver syndrome and portal hypertension: fortuitous association or common mechanism? 6 61
22307742 2012
10
Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. 61 6
21820096 2011
11
Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption. 6 61
17159513 2007
12
Adams-Oliver syndrome: clinical description of a four-generation family and exclusion of five candidate genes. 61 6
16451141 2006
13
Aplasia cutis congenita associated with limb, eye, and brain anomalies in sibs: a variant of the Adams-Oliver syndrome? 6 61
8849019 1995
14
DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies. 61 25
25824905 2015
15
Adams-Oliver syndrome: a case report. 25 61
25556654 2015
16
Multiple tics in a patient with Adams-Oliver syndrome. 61 25
25716509 2015
17
Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations. 25 61
25091416 2014
18
Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations. 61 25
24668619 2014
19
Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase. 25 61
23860037 2014
20
Aplasia cutis congenita: approach to evaluation and management. 25 61
24552406 2013
21
Unique variant of Adams-Oliver syndrome with dilated cardiomyopathy and heart block. 25 61
23910800 2013
22
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. 61 25
23274636 2013
23
Peripheral ischemic retinopathy in Adams-Oliver syndrome. 25 61
22893088 2012
24
Management of large scalp and skull defects in a severe case of Adams-Oliver syndrome. 61 25
19951037 2009
25
The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. 25 61
19610107 2009
26
Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: a possible link to the Adams-Oliver syndrome. 25 61
18924173 2008
27
Adams-Oliver syndrome: further evidence of an autosomal recessive variant. 25 61
17551326 2007
28
Adams-Oliver syndrome associated with cutis marmorata telangiectatica congenita and congenital cataract: a case report. 61 25
16586236 2006
29
Association of Adams-Oliver syndrome with pulmonary arterio-venous malformation in the same family: a further support to the vascular hypothesis. 61 25
15948197 2005
30
Notch/gamma-secretase inhibition turns proliferative cells in intestinal crypts and adenomas into goblet cells. 6
15959515 2005
31
Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome. 61 25
15326631 2004
32
Surgical treatment of aplasia cutis in the Adams-Oliver syndrome. 61 25
11711825 2001
33
Clinical evidence of vascular abnormalities at birth in Adams-Oliver syndrome: report of two further cases. 25 61
10982487 2000
34
The wide spectrum of clinical expression in Adams-Oliver syndrome: a report of two cases. 25 61
10354089 1999
35
Vascular abnormalities in Adams-Oliver syndrome: cause or effect? 25 61
9916843 1999
36
The concurrence of ring constrictions in Adams-Oliver syndrome: additional evidence for vascular disruption as common pathogenetic mechanism. 25 61
10546102 1999
37
Congenital scalp defect, distal limb reduction anomalies, right spastic hemiplegia and hypoplasia of the left arteria cerebri media. Further evidence that interruption of early embryonic blood supply may result in Adams-Oliver (plus) syndrome. 61 25
9147884 1996
38
Familial aplasia cutis congenita and coarctation of the aorta. 6
1621771 1992
39
Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome. 25 61
2012136 1991
40
Autosomal dominant inheritance of scalp defects with ectrodactyly. 6
474617 1979
41
Aortic Dilatation Associated With a De Novo Mutation in the SOX18 Gene: Expanding the Clinical Spectrum of Hypotrichosis-Lymphedema-Telangiectasia Syndrome. 25
26148450 2016
42
Extensive Intracranial Arteriovenous Malformation in a Child with Aplasia Cutis Congenita. 25
25787706 2015
43
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes. 25
25724810 2015
44
Comprehensive, Integrative Genomic Analysis of Diffuse Lower-Grade Gliomas. 25
26061751 2015
45
Activated Notch counteracts Ikaros tumor suppression in mouse and human T-cell acute lymphoblastic leukemia. 25
25655195 2015
46
Idiopathic noncirrhotic portal hypertension: What is it? 25
31040965 2015
47
Genetics of aplasia cutis reveal novel regulators of skin morphogenesis. 25
25355129 2015
48
Structural biology. Structural basis for Notch1 engagement of Delta-like 4. 25
25700513 2015
49
Aplasia cutis congenita of the scalp--what are the steps to be followed? Case report and review of the literature. 25
25672305 2015
50
Loss of the Notch effector RBPJ promotes tumorigenesis. 25
25512468 2015

Variations for Adams-Oliver Syndrome

ClinVar genetic disease variations for Adams-Oliver Syndrome:

6 (show top 50) (show all 929)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DLL4 NM_019074.4(DLL4):c.1660C>T (p.Gln554Ter) SNV Pathogenic 204368 rs796065344 15:41228845-41228845 15:40936647-40936647
2 DLL4 NM_019074.4(DLL4):c.1672C>T (p.Arg558Ter) SNV Pathogenic 204369 rs61750844 15:41228857-41228857 15:40936659-40936659
3 DLL4 NM_019074.4(DLL4):c.1365C>G (p.Cys455Trp) SNV Pathogenic 204370 rs796065345 15:41228550-41228550 15:40936352-40936352
4 DLL4 NM_019074.4(DLL4):c.1169G>A (p.Cys390Tyr) SNV Pathogenic 204371 rs796065346 15:41227244-41227244 15:40935046-40935046
5 DLL4 NM_019074.4(DLL4):c.1168T>C (p.Cys390Arg) SNV Pathogenic 204372 rs796065347 15:41227243-41227243 15:40935045-40935045
6 DLL4 NM_019074.4(DLL4):c.556C>T (p.Arg186Cys) SNV Pathogenic 204373 rs796065348 15:41223862-41223862 15:40931664-40931664
7 DLL4 NM_019074.4(DLL4):c.799C>A (p.Pro267Thr) SNV Pathogenic 204374 rs796065349 15:41224594-41224594 15:40932396-40932396
8 DLL4 NM_019074.4(DLL4):c.361G>C (p.Ala121Pro) SNV Pathogenic 204375 rs796065350 15:41222847-41222847 15:40930649-40930649
9 DLL4 NM_019074.4(DLL4):c.583T>C (p.Phe195Leu) SNV Pathogenic 204376 rs796065351 15:41223889-41223889 15:40931691-40931691
10 DLL4 NM_019074.4(DLL4):c.1168T>C (p.Cys390Arg) SNV Pathogenic 204372 rs796065347 15:41227243-41227243 15:40935045-40935045
11 DLL4 NM_019074.4(DLL4):c.556C>T (p.Arg186Cys) SNV Pathogenic 204373 rs796065348 15:41223862-41223862 15:40931664-40931664
12 DLL4 NM_019074.4(DLL4):c.1660C>T (p.Gln554Ter) SNV Pathogenic 204368 rs796065344 15:41228845-41228845 15:40936647-40936647
13 DLL4 NM_019074.4(DLL4):c.1169G>A (p.Cys390Tyr) SNV Pathogenic 204371 rs796065346 15:41227244-41227244 15:40935046-40935046
14 DLL4 NM_019074.4(DLL4):c.361G>C (p.Ala121Pro) SNV Pathogenic 204375 rs796065350 15:41222847-41222847 15:40930649-40930649
15 DLL4 NM_019074.4(DLL4):c.1672C>T (p.Arg558Ter) SNV Pathogenic 204369 rs61750844 15:41228857-41228857 15:40936659-40936659
16 NOTCH1 NM_017617.5(NOTCH1):c.1343G>A (p.Arg448Gln) SNV Pathogenic 219375 rs864622056 9:139412302-139412302 9:136517850-136517850
17 NOTCH1 NM_017617.5(NOTCH1):c.4739dup (p.Met1580fs) Duplication Pathogenic 219381 rs864622061 9:139399403-139399404 9:136504951-136504952
18 ARHGAP31 NM_020754.4(ARHGAP31):c.2047C>T (p.Gln683Ter) SNV Pathogenic 30857 rs387907031 3:119132823-119132823 3:119413976-119413976
19 ARHGAP31 NM_020754.4(ARHGAP31):c.3260del (p.Lys1087fs) Deletion Pathogenic 30858 rs1559999373 3:119134034-119134034 3:119415187-119415187
20 DOCK6 NM_020812.4(DOCK6):c.1362_1365del (p.Thr455fs) Deletion Pathogenic 183335 rs730882238 19:11353955-11353958 19:11243279-11243282
21 DOCK6 NM_020812.4(DOCK6):c.1245dup (p.Asp416Ter) Duplication Pathogenic 31128 rs1226716539 19:11354245-11354246 19:11243569-11243570
22 RBPJ NM_005349.3(RBPJ):c.188A>G (p.Glu63Gly) SNV Pathogenic 37053 rs387907270 4:26407886-26407886 4:26406264-26406264
23 RBPJ NM_005349.3(RBPJ):c.505A>G (p.Lys169Glu) SNV Pathogenic 37054 rs387907271 4:26422317-26422317 4:26420695-26420695
24 DOCK6 NM_020812.4(DOCK6):c.2520dup (p.Arg841fs) Duplication Pathogenic 55814 rs397509398 19:11346307-11346308 19:11235631-11235632
25 DOCK6 NM_020812.4(DOCK6):c.4107-1G>C SNV Pathogenic 55815 rs397509399 19:11325326-11325326 19:11214650-11214650
26 EOGT NM_001278689.2(EOGT):c.620G>C (p.Trp207Ser) SNV Pathogenic 55816 rs587776993 3:69053529-69053529 3:69004378-69004378
27 EOGT NM_001278689.2(EOGT):c.1074del (p.Gly359fs) Deletion Pathogenic 55817 rs587776994 3:69037455-69037455 3:68988304-68988304
28 EOGT NM_001278689.2(EOGT):c.1130G>A (p.Arg377Gln) SNV Pathogenic 55818 rs587776995 3:69036618-69036618 3:68987467-68987467
29 NOTCH1 NM_017617.5(NOTCH1):c.4487G>A (p.Cys1496Tyr) SNV Pathogenic 156007 rs587781259 9:139399861-139399861 9:136505409-136505409
30 NOTCH1 NM_017617.5(NOTCH1):c.4663G>T (p.Glu1555Ter) SNV Pathogenic 219380 rs746342893 9:139399480-139399480 9:136505028-136505028
31 DOCK6 NM_020812.4(DOCK6):c.3154G>A (p.Glu1052Lys) SNV Pathogenic 253048 rs774877657 19:11333497-11333497 19:11222821-11222821
32 DOCK6 NM_020812.4(DOCK6):c.788T>A (p.Val263Asp) SNV Pathogenic 253046 rs879255610 19:11358760-11358760 19:11248084-11248084
33 DOCK6 NM_020812.4(DOCK6):c.5939+2T>C SNV Pathogenic 253047 rs201387914 19:11311390-11311390 19:11200714-11200714
34 DOCK6 NM_020812.4(DOCK6):c.4824_4828del (p.Glu1609fs) Deletion Pathogenic 522950 rs1555826472 19:11319703-11319707 19:11209027-11209031
35 NOTCH1 NM_017617.5(NOTCH1):c.2365C>T (p.Gln789Ter) SNV Pathogenic 544178 rs1554729118 9:139407575-139407575 9:136513123-136513123
36 NOTCH1 NM_017617.5(NOTCH1):c.3266G>A (p.Trp1089Ter) SNV Pathogenic 544179 rs1554728428 9:139402743-139402743 9:136508291-136508291
37 NOTCH1 NM_017617.5(NOTCH1):c.1669+5G>A SNV Pathogenic 520074 rs771590616 9:139410428-139410428 9:136515976-136515976
38 NOTCH1 NM_017617.5(NOTCH1):c.2380G>T (p.Glu794Ter) SNV Pathogenic 523594 rs1554729113 9:139407560-139407560 9:136513108-136513108
39 NOTCH1 NM_017617.5(NOTCH1):c.2704C>T (p.Arg902Cys) SNV Pathogenic 523595 rs1448345366 9:139405141-139405141 9:136510689-136510689
40 NOTCH1 NM_017617.5(NOTCH1):c.3281G>A (p.Cys1094Tyr) SNV Pathogenic 523596 rs1554728424 9:139402728-139402728 9:136508276-136508276
41 NOTCH1 NM_017617.5(NOTCH1):c.4222G>T (p.Glu1408Ter) SNV Pathogenic 523597 rs587778569 9:139400126-139400126 9:136505674-136505674
42 NOTCH1 NM_017617.5(NOTCH1):c.1396del (p.Thr466fs) Deletion Pathogenic 572044 rs1564199476 9:139412249-139412249 9:136517797-136517797
43 DLL4 NM_019074.4(DLL4):c.1825C>T (p.Gln609Ter) SNV Pathogenic 523582 rs1555393182 15:41229010-41229010 15:40936812-40936812
44 NOTCH1 NM_017617.5(NOTCH1):c.415C>T (p.Gln139Ter) SNV Pathogenic 523583 rs1554730670 9:139417629-139417629 9:136523177-136523177
45 NOTCH1 NM_017617.5(NOTCH1):c.794_797delinsCC (p.Asn265fs) Indel Pathogenic 523584 rs1554730184 9:139413963-139413966 9:136519511-136519514
46 NOTCH1 NM_017617.5(NOTCH1):c.1933_1934TG[1] (p.Ala646fs) Microsatellite Pathogenic 523585 rs1554729443 9:139409820-139409821 9:136515368-136515369
47 ARHGAP31 NM_020754.4(ARHGAP31):c.2182C>T (p.Gln728Ter) SNV Pathogenic 523589 rs1553768038 3:119132958-119132958 3:119414111-119414111
48 DLL4 NM_019074.4(DLL4):c.1310G>C (p.Cys437Ser) SNV Pathogenic 523591 rs1555393125 15:41228495-41228495 15:40936297-40936297
49 DLL4 NM_019074.4(DLL4):c.1397G>A (p.Cys466Tyr) SNV Pathogenic 523592 rs1247027543 15:41228582-41228582 15:40936384-40936384
50 EOGT NM_001278689.2(EOGT):c.78_81del (p.His27fs) Deletion Pathogenic 523593 rs771160630 3:69058917-69058920 3:69009766-69009769

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
2 Th1 and Th2 cell differentiation hsa04658

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

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.87 RBPJ NOTCH2 NOTCH1 LFNG JAG1 ISG15
2 12.71 NOTCH2 NOTCH1 JAG1 DLL4 CDC42
3
Show member pathways
12.66 RBPJ POGLUT1 POFUT1 NOTCH2 NOTCH1 LFNG
4
Show member pathways
12.49 RBPJ NOTCH2 NOTCH1 JAG1 DLL4
5
Show member pathways
12.31 RBPJ POFUT1 NOTCH2 NOTCH1 LFNG JAG1
6 12.11 RBPJ NOTCH2 NOTCH1 LFNG JAG1 DLL4
7
Show member pathways
12.09 RBPJ NOTCH1 LFNG JAG1 DLL4
8
Show member pathways
11.98 RBPJ NOTCH2 NOTCH1 JAG1 DLL4
9 11.93 RBPJ NOTCH2 NOTCH1
10
Show member pathways
11.85 POGLUT1 POFUT1 LFNG EOGT
11 11.83 RBPJ NOTCH2 NOTCH1 DLL4
12 11.76 NOTCH2 NOTCH1 JAG1 DLL4
13
Show member pathways
11.73 RBPJ POGLUT1 POFUT1 NOTCH2 NOTCH1 LFNG
14 11.41 RBPJ NOTCH1 JAG1
15 11.23 DOCK6 CDC42 ARHGAP31
16 11.18 RBPJ NOTCH2 NOTCH1 LFNG
17 10.91 NOTCH1 JAG1 DLL4
18 10.88 RBPJ POFUT1 NOTCH2 NOTCH1 LFNG JAG1
19 10.82 NOTCH1 JAG1
20 10.79 RBPJ NOTCH2 NOTCH1 JAG1 DLL4
21 10.62 NOTCH1 LFNG

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 RBPJ NOTCH1

Biological processes related to Adams-Oliver Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.19 POGLUT1 NOTCH2 NOTCH1 LFNG JAG1 DLL4
2 nervous system development GO:0007399 10.08 POFUT1 NOTCH2 JAG1 DLL4 CDC42
3 angiogenesis GO:0001525 9.91 RBPJ POFUT1 NOTCH1 JAG1 DLL4
4 small GTPase mediated signal transduction GO:0007264 9.88 DOCK6 CDC42 ARHGAP31
5 liver development GO:0001889 9.86 UGT1A1 NOTCH2 NOTCH1
6 hemopoiesis GO:0030097 9.83 RBPJ NOTCH2 JAG1
7 negative regulation of cell differentiation GO:0045596 9.82 RBPJ NOTCH1 JAG1
8 keratinocyte differentiation GO:0030216 9.81 RBPJ NOTCH1 JAG1
9 humoral immune response GO:0006959 9.81 RBPJ NOTCH2 NOTCH1
10 protein O-linked glycosylation GO:0006493 9.77 POGLUT1 POFUT1 EOGT
11 positive regulation of BMP signaling pathway GO:0030513 9.76 RBPJ NOTCH2 NOTCH1
12 blood vessel remodeling GO:0001974 9.75 RBPJ JAG1 DLL4
13 negative regulation of ossification GO:0030279 9.71 RBPJ NOTCH1
14 neuronal stem cell population maintenance GO:0097150 9.71 NOTCH1 JAG1
15 myeloid dendritic cell differentiation GO:0043011 9.7 RBPJ NOTCH2
16 cell fate determination GO:0001709 9.7 NOTCH2 JAG1
17 positive regulation of transcription of Notch receptor target GO:0007221 9.7 RBPJ NOTCH1
18 aortic valve morphogenesis GO:0003180 9.7 NOTCH1 JAG1 DLL4
19 negative regulation of stem cell differentiation GO:2000737 9.69 NOTCH1 JAG1
20 cardiac septum morphogenesis GO:0060411 9.69 NOTCH1 JAG1
21 left/right axis specification GO:0070986 9.69 NOTCH2 NOTCH1
22 response to muramyl dipeptide GO:0032495 9.68 NOTCH1 JAG1
23 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.68 RBPJ NOTCH1
24 cardiac left ventricle morphogenesis GO:0003214 9.67 RBPJ NOTCH1
25 morphogenesis of an epithelial sheet GO:0002011 9.67 NOTCH2 JAG1
26 glomerular visceral epithelial cell development GO:0072015 9.67 NOTCH2 JAG1
27 cardiac ventricle morphogenesis GO:0003208 9.66 NOTCH1 DLL4
28 marginal zone B cell differentiation GO:0002315 9.66 NOTCH2 LFNG
29 dorsal aorta morphogenesis GO:0035912 9.65 RBPJ DLL4
30 pericardium morphogenesis GO:0003344 9.65 NOTCH1 DLL4
31 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.63 RBPJ NOTCH1
32 regulation of somitogenesis GO:0014807 9.62 NOTCH1 LFNG
33 cardiac atrium morphogenesis GO:0003209 9.62 NOTCH1 DLL4
34 somitogenesis GO:0001756 9.62 RBPJ POGLUT1 POFUT1 LFNG
35 ciliary body morphogenesis GO:0061073 9.61 NOTCH2 JAG1
36 regulation of developmental process GO:0050793 9.61 NOTCH2 NOTCH1
37 inflammatory response to antigenic stimulus GO:0002437 9.61 RBPJ NOTCH2 NOTCH1
38 endocardium development GO:0003157 9.6 RBPJ NOTCH1
39 pulmonary valve morphogenesis GO:0003184 9.58 NOTCH2 NOTCH1 JAG1
40 distal tubule development GO:0072017 9.57 NOTCH1 JAG1
41 negative regulation of growth rate GO:0045967 9.56 NOTCH2 NOTCH1
42 regulation of Notch signaling pathway GO:0008593 9.56 POGLUT1 POFUT1 NOTCH1 LFNG
43 auditory receptor cell fate commitment GO:0009912 9.55 RBPJ NOTCH1
44 positive regulation of Notch signaling pathway GO:0045747 9.55 RBPJ POGLUT1 NOTCH1 JAG1 DLL4
45 regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation GO:0003256 9.54 RBPJ NOTCH1
46 ventricular trabecula myocardium morphogenesis GO:0003222 9.54 RBPJ NOTCH1 DLL4
47 blood vessel lumenization GO:0072554 9.49 RBPJ DLL4
48 positive regulation of cardiac epithelial to mesenchymal transition GO:0062043 9.48 NOTCH1 JAG1
49 endocardium morphogenesis GO:0003160 9.46 RBPJ NOTCH1
50 Notch signaling pathway GO:0007219 9.43 RBPJ POFUT1 NOTCH2 NOTCH1 JAG1 DLL4

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

# Name GO ID Score Top Affiliating Genes
1 Notch binding GO:0005112 9.13 NOTCH1 JAG1 DLL4
2 transferase activity, transferring glycosyl groups GO:0016757 9.02 UGT1A1 POGLUT1 POFUT1 LFNG EOGT

Sources for Adams-Oliver Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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