AOS
MCID: ADM011
MIFTS: 54

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 24 53 25 59 37 29 6 15 40
Adams Oliver Syndrome 12 53 44 73
Congenital Scalp Defects with Distal Limb Reduction Anomalies 53 25 59
Aos 53 25 59
Aplasia Cutis Congenita with Terminal Transverse Limb Defects 24 25
Congenital Scalp Defects with Distal Limb Anomalies 53 59
Limb, Scalp and Skull Defects 53 59
Absence Defect of Limbs, Scalp, and Skull 25
Limb Scalp and Skull Defects 53
Adamsoliver Syndrome 76

Characteristics:

Orphanet epidemiological data:

59
adams-oliver syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal;

GeneReviews:

24
Penetrance Familial autosomal dominant aos typically shows decreased penetrance...

Classifications:



Summaries for Adams-Oliver Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Adams-Oliver Syndrome, also known as adams oliver syndrome, is related to adams-oliver syndrome 2 and adams-oliver syndrome 5, and has symptoms including seizures An important gene associated with Adams-Oliver Syndrome is EOGT (EGF Domain Specific O-Linked N-Acetylglucosamine Transferase), and among its related pathways/superpathways are Notch signaling pathway and PI3K-Akt signaling pathway. Affiliated tissues include skin, heart and bone, and related phenotypes are finger syndactyly and hydrocephalus

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.

Wikipedia : 76 Adams´┐Ż??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 70)
# Related Disease Score Top Affiliating Genes
1 adams-oliver syndrome 2 34.5 DOCK6 LOC105372273
2 adams-oliver syndrome 5 34.4 MIR4673 NOTCH1
3 oliver syndrome 30.9 ARHGAP31 DLL4 DOCK6 EOGT LOC105372273 MIR4673
4 aplasia cutis congenita 30.6 ARHGAP31 DLL4 DOCK6 EOGT NOTCH1 RBPJ
5 adams-oliver syndrome 1 12.9
6 adams-oliver syndrome 3 12.8
7 adams-oliver syndrome 4 12.8
8 adams-oliver syndrome 6 12.8
9 atelosteogenesis, type ii 11.4
10 aplasia cutis congenita, nonsyndromic 11.4
11 autosomal dominant deafness-onychodystrophy syndrome 11.4
12 loeys-dietz syndrome 3 11.1
13 progressive supranuclear palsy-progressive non-fluent aphasia syndrome 11.1
14 supravalvular aortic stenosis 11.0
15 aortic valve disease 2 11.0
16 progressive non-fluent aphasia 11.0
17 cutis marmorata telangiectatica congenita 10.3
18 periventricular leukomalacia 10.3
19 epilepsy 10.3
20 leukomalacia 10.3
21 hepatoportal sclerosis 10.3
22 brachydactyly 10.1
23 ovarian cancer 10.1
24 asthma 10.1
25 atrial standstill 1 10.1
26 septooptic dysplasia 10.1
27 moyamoya disease 1 10.1
28 leukemia, chronic myeloid 10.1
29 diabetes mellitus, ketosis-prone 10.1
30 pulmonary hypertension 10.1
31 cataract 10.1
32 dilated cardiomyopathy 10.1
33 leukemia 10.1
34 portal hypertension 10.1
35 microcephaly 10.1
36 hemiplegia 10.1
37 optic disk drusen 10.1
38 vascular disease 10.1
39 polymicrogyria 10.1
40 aortic coarctation 10.1
41 encephalopathy 10.1
42 ischemic retinopathy 10.1
43 spinal cord injury 10.0
44 atelosteogenesis 10.0
45 compartment syndrome 10.0
46 fish-eye disease 9.9
47 osteoporosis 9.9
48 pick disease of brain 9.9
49 rheumatoid arthritis 9.9
50 malaria 9.9

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:

59 32 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0006101
2 hydrocephalus 59 32 frequent (33%) Frequent (79-30%) HP:0000238
3 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
4 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
5 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
6 eeg abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0002353
7 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
8 hypertonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001276
9 portal hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0001409
10 ascites 59 32 occasional (7.5%) Occasional (29-5%) HP:0001541
11 pulmonary arterial hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0002092
12 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
13 arteriovenous malformation 59 32 occasional (7.5%) Occasional (29-5%) HP:0100026
14 alopecia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001596
15 cirrhosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001394
16 thrombocytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001873
17 microphthalmia 59 32 frequent (33%) Frequent (79-30%) HP:0000568
18 abnormality of the metacarpal bones 59 32 frequent (33%) Frequent (79-30%) HP:0001163
19 congenital hepatic fibrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002612
20 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
21 tetralogy of fallot 59 32 frequent (33%) Frequent (79-30%) HP:0001636
22 gastrointestinal hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002239
23 split hand 59 32 frequent (33%) Frequent (79-30%) HP:0001171
24 esophageal varix 59 32 occasional (7.5%) Occasional (29-5%) HP:0002040
25 short distal phalanx of finger 59 32 frequent (33%) Frequent (79-30%) HP:0009882
26 absent toe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010760
27 hypoplastic fingernail 59 32 occasional (7.5%) Occasional (29-5%) HP:0001804
28 sparse hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0008070
29 talipes 59 32 frequent (33%) Frequent (79-30%) HP:0001883
30 encephalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002084
31 premature birth 59 32 occasional (7.5%) Occasional (29-5%) HP:0001622
32 cutis marmorata 59 32 hallmark (90%) Very frequent (99-80%) HP:0000965
33 absent hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0004050
34 aplastic/hypoplastic toenail 59 32 occasional (7.5%) Occasional (29-5%) HP:0010624
35 leukopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001882
36 hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001269
37 aplasia cutis congenita 59 32 hallmark (90%) Very frequent (99-80%) HP:0001057
38 absent fingernail 59 32 occasional (7.5%) Occasional (29-5%) HP:0001817
39 pulmonary artery atresia 59 32 frequent (33%) Frequent (79-30%) HP:0004935
40 periventricular leukomalacia 59 32 occasional (7.5%) Occasional (29-5%) HP:0006970
41 aplasia/hypoplasia of the skin 59 Very frequent (99-80%)
42 abnormality of the pulmonary valve 59 Frequent (79-30%)
43 abnormality of the upper limb 59 Very frequent (99-80%)
44 abnormality of the lower limb 59 Very frequent (99-80%)
45 skull defect 59 Very frequent (99-80%)
46 porencephaly 59 Occasional (29-5%)
47 porencephalic cyst 32 occasional (7.5%) HP:0002132
48 calvarial skull defect 32 hallmark (90%) HP:0001362
49 abnormal pulmonary valve morphology 32 frequent (33%) HP:0001641

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 29

Anatomical Context for Adams-Oliver Syndrome

MalaCards organs/tissues related to Adams-Oliver Syndrome:

41
Skin, Heart, Bone, Eye, Brain, Spinal Cord, Myeloid

Publications for Adams-Oliver Syndrome

Articles related to Adams-Oliver Syndrome:

(show top 50) (show all 124)
# 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
Letter regarding "Distal Limb Defects and Aplasia Cutis: Adams-Oliver Syndrome". ( 27402369 )
2016
18
Multiple tics in a patient with Adams-Oliver syndrome. ( 25716509 )
2015
19
DLL4 loss-of-function heterozygous mutations cause Adams-Oliver syndrome. ( 26419402 )
2015
20
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. ( 25963545 )
2015
21
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. ( 25824905 )
2015
22
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. ( 26457590 )
2015
23
Cardiovascular malformations in Adams-Oliver syndrome. ( 25885069 )
2015
24
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
25
Adams Oliver Syndrome. ( 26244971 )
2015
26
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome. ( 26299364 )
2015
27
Mutations in NOTCH1 cause Adams-Oliver syndrome. ( 25132448 )
2014
28
Adams-Oliver syndrome. ( 24906278 )
2014
29
Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations. ( 25091416 )
2014
30
Adams-Oliver Syndrome: A Case Report. ( 25556654 )
2014
31
Adams-Oliver Syndrome - Follow-up of a Large Scalp Defect. ( 24515817 )
2014
32
Severe phenotype in two half-sibs with Adams Oliver syndrome. ( 24862819 )
2014
33
Adams-Oliver syndrome in a newborn infant. ( 24697559 )
2014
34
Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations. ( 24668619 )
2014
35
Adams-Oliver syndrome. ( 24320818 )
2013
36
Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase. ( 23860037 )
2013
37
Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family. ( 24505229 )
2013
38
Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. ( 23522784 )
2013
39
Adams-Oliver syndrome: new evidence in variable expressivity? ( 24372423 )
2013
40
Unique variant of Adams-Oliver syndrome with dilated cardiomyopathy and heart block. ( 23910800 )
2013
41
Parental allografts in the management of Adams-Oliver syndrome. ( 23740178 )
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
Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome. ( 23613382 )
2013
44
Peripheral ischemic retinopathy in Adams-Oliver syndrome. ( 22893088 )
2012
45
Adams-Oliver Syndrome. A case with isolated aplasia cutis congenita and skeletal defects. ( 22514587 )
2012
46
Adams-Oliver syndrome and familial MYH9 mutation. ( 22631568 )
2012
47
Stroke in a child with Adams-Oliver syndrome and mixed diabetic ketoacidosis and hyperglycemic hyperosmolar syndrome. ( 22768669 )
2012
48
Adams-Oliver syndrome and portal hypertension: fortuitous association or common mechanism? ( 22307742 )
2012
49
RBPJ mutations identified in two families affected by Adams-Oliver syndrome. ( 22883147 )
2012
50
Adams-Oliver syndrome, a family with dominant inheritance and a severe phenotype. ( 21785343 )
2011

Variations for Adams-Oliver Syndrome

ClinVar genetic disease variations for Adams-Oliver Syndrome:

6 (show top 50) (show all 280)
# 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 EOGT NM_001278689.1(EOGT): c.1074delA (p.Gly359Aspfs) deletion Pathogenic/Likely pathogenic rs587776994 GRCh38 Chromosome 3, 68988304: 68988304
3 DOCK6 NM_020812.3(DOCK6): c.1362_1365delAACT (p.Thr455Serfs) deletion Likely pathogenic rs730882238 GRCh37 Chromosome 19, 11353955: 11353958
4 DOCK6 NM_020812.3(DOCK6): c.1362_1365delAACT (p.Thr455Serfs) deletion Likely pathogenic rs730882238 GRCh38 Chromosome 19, 11243279: 11243282
5 ARHGAP31 NM_020754.3(ARHGAP31): c.1430C> T (p.Pro477Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200233879 GRCh37 Chromosome 3, 119121029: 119121029
6 ARHGAP31 NM_020754.3(ARHGAP31): c.1430C> T (p.Pro477Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200233879 GRCh38 Chromosome 3, 119402182: 119402182
7 ARHGAP31 NM_020754.3(ARHGAP31): c.2412G> A (p.Pro804=) single nucleotide variant Uncertain significance rs776194035 GRCh37 Chromosome 3, 119133188: 119133188
8 ARHGAP31 NM_020754.3(ARHGAP31): c.2412G> A (p.Pro804=) single nucleotide variant Uncertain significance rs776194035 GRCh38 Chromosome 3, 119414341: 119414341
9 ARHGAP31 NM_020754.3(ARHGAP31): c.820C> T (p.Pro274Ser) single nucleotide variant Benign/Likely benign rs139600783 GRCh37 Chromosome 3, 119109769: 119109769
10 ARHGAP31 NM_020754.3(ARHGAP31): c.820C> T (p.Pro274Ser) single nucleotide variant Benign/Likely benign rs139600783 GRCh38 Chromosome 3, 119390922: 119390922
11 DLL4 NM_019074.3(DLL4): c.361G> C (p.Ala121Pro) single nucleotide variant Pathogenic rs796065350 GRCh38 Chromosome 15, 40930649: 40930649
12 DLL4 NM_019074.3(DLL4): c.361G> C (p.Ala121Pro) single nucleotide variant Pathogenic rs796065350 GRCh37 Chromosome 15, 41222847: 41222847
13 DLL4 NM_019074.3(DLL4): c.556C> T (p.Arg186Cys) single nucleotide variant Pathogenic rs796065348 GRCh38 Chromosome 15, 40931664: 40931664
14 DLL4 NM_019074.3(DLL4): c.556C> T (p.Arg186Cys) single nucleotide variant Pathogenic rs796065348 GRCh37 Chromosome 15, 41223862: 41223862
15 DLL4 NM_019074.3(DLL4): c.583T> C (p.Phe195Leu) single nucleotide variant Pathogenic rs796065351 GRCh38 Chromosome 15, 40931691: 40931691
16 DLL4 NM_019074.3(DLL4): c.583T> C (p.Phe195Leu) single nucleotide variant Pathogenic rs796065351 GRCh37 Chromosome 15, 41223889: 41223889
17 DLL4 NM_019074.3(DLL4): c.799C> A (p.Pro267Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs796065349 GRCh38 Chromosome 15, 40932396: 40932396
18 DLL4 NM_019074.3(DLL4): c.799C> A (p.Pro267Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs796065349 GRCh37 Chromosome 15, 41224594: 41224594
19 DLL4 NM_019074.3(DLL4): c.1168T> C (p.Cys390Arg) single nucleotide variant Pathogenic rs796065347 GRCh38 Chromosome 15, 40935045: 40935045
20 DLL4 NM_019074.3(DLL4): c.1168T> C (p.Cys390Arg) single nucleotide variant Pathogenic rs796065347 GRCh37 Chromosome 15, 41227243: 41227243
21 DLL4 NM_019074.3(DLL4): c.1169G> A (p.Cys390Tyr) single nucleotide variant Pathogenic rs796065346 GRCh38 Chromosome 15, 40935046: 40935046
22 DLL4 NM_019074.3(DLL4): c.1169G> A (p.Cys390Tyr) single nucleotide variant Pathogenic rs796065346 GRCh37 Chromosome 15, 41227244: 41227244
23 DLL4 NM_019074.3(DLL4): c.1365C> G (p.Cys455Trp) single nucleotide variant Pathogenic rs796065345 GRCh38 Chromosome 15, 40936352: 40936352
24 DLL4 NM_019074.3(DLL4): c.1365C> G (p.Cys455Trp) single nucleotide variant Pathogenic rs796065345 GRCh37 Chromosome 15, 41228550: 41228550
25 DLL4 NM_019074.3(DLL4): c.1660C> T (p.Gln554Ter) single nucleotide variant Pathogenic rs796065344 GRCh38 Chromosome 15, 40936647: 40936647
26 DLL4 NM_019074.3(DLL4): c.1660C> T (p.Gln554Ter) single nucleotide variant Pathogenic rs796065344 GRCh37 Chromosome 15, 41228845: 41228845
27 DLL4 NM_019074.3(DLL4): c.1672C> T (p.Arg558Ter) single nucleotide variant Pathogenic rs61750844 GRCh38 Chromosome 15, 40936659: 40936659
28 DLL4 NM_019074.3(DLL4): c.1672C> T (p.Arg558Ter) single nucleotide variant Pathogenic rs61750844 GRCh37 Chromosome 15, 41228857: 41228857
29 ARHGAP31 NM_020754.3(ARHGAP31): c.349-7T> G single nucleotide variant Likely benign rs200397968 GRCh37 Chromosome 3, 119099744: 119099744
30 ARHGAP31 NM_020754.3(ARHGAP31): c.349-7T> G single nucleotide variant Likely benign rs200397968 GRCh38 Chromosome 3, 119380897: 119380897
31 ARHGAP31 NM_020754.3(ARHGAP31): c.936T> C (p.Arg312=) single nucleotide variant Benign/Likely benign rs200813566 GRCh37 Chromosome 3, 119112368: 119112368
32 ARHGAP31 NM_020754.3(ARHGAP31): c.936T> C (p.Arg312=) single nucleotide variant Benign/Likely benign rs200813566 GRCh38 Chromosome 3, 119393521: 119393521
33 ARHGAP31 NM_020754.3(ARHGAP31): c.4096G> A (p.Val1366Met) single nucleotide variant Benign/Likely benign rs3796360 GRCh37 Chromosome 3, 119134872: 119134872
34 ARHGAP31 NM_020754.3(ARHGAP31): c.4096G> A (p.Val1366Met) single nucleotide variant Benign/Likely benign rs3796360 GRCh38 Chromosome 3, 119416025: 119416025
35 ARHGAP31 NM_020754.3(ARHGAP31): c.1618A> G (p.Lys540Glu) single nucleotide variant Benign/Likely benign rs61744410 GRCh37 Chromosome 3, 119121217: 119121217
36 ARHGAP31 NM_020754.3(ARHGAP31): c.1618A> G (p.Lys540Glu) single nucleotide variant Benign/Likely benign rs61744410 GRCh38 Chromosome 3, 119402370: 119402370
37 ARHGAP31 NM_020754.3(ARHGAP31): c.435C> G (p.Thr145=) single nucleotide variant Conflicting interpretations of pathogenicity rs201927115 GRCh37 Chromosome 3, 119101142: 119101142
38 ARHGAP31 NM_020754.3(ARHGAP31): c.435C> G (p.Thr145=) single nucleotide variant Conflicting interpretations of pathogenicity rs201927115 GRCh38 Chromosome 3, 119382295: 119382295
39 ARHGAP31 NM_020754.3(ARHGAP31): c.-149G> A single nucleotide variant Likely benign rs62265186 GRCh37 Chromosome 3, 119013603: 119013603
40 ARHGAP31 NM_020754.3(ARHGAP31): c.-149G> A single nucleotide variant Likely benign rs62265186 GRCh38 Chromosome 3, 119294756: 119294756
41 ARHGAP31 NM_020754.3(ARHGAP31): c.203+6C> T single nucleotide variant Likely benign rs141911639 GRCh37 Chromosome 3, 119084271: 119084271
42 ARHGAP31 NM_020754.3(ARHGAP31): c.203+6C> T single nucleotide variant Likely benign rs141911639 GRCh38 Chromosome 3, 119365424: 119365424
43 ARHGAP31 NM_020754.3(ARHGAP31): c.384G> C (p.Leu128=) single nucleotide variant Likely benign rs150339878 GRCh37 Chromosome 3, 119099786: 119099786
44 ARHGAP31 NM_020754.3(ARHGAP31): c.384G> C (p.Leu128=) single nucleotide variant Likely benign rs150339878 GRCh38 Chromosome 3, 119380939: 119380939
45 ARHGAP31 NM_020754.3(ARHGAP31): c.436T> C (p.Leu146=) single nucleotide variant Uncertain significance rs758994452 GRCh37 Chromosome 3, 119101143: 119101143
46 ARHGAP31 NM_020754.3(ARHGAP31): c.436T> C (p.Leu146=) single nucleotide variant Uncertain significance rs758994452 GRCh38 Chromosome 3, 119382296: 119382296
47 ARHGAP31 NM_020754.3(ARHGAP31): c.1044C> T (p.Asp348=) single nucleotide variant Uncertain significance rs369521143 GRCh38 Chromosome 3, 119399236: 119399236
48 ARHGAP31 NM_020754.3(ARHGAP31): c.1044C> T (p.Asp348=) single nucleotide variant Uncertain significance rs369521143 GRCh37 Chromosome 3, 119118083: 119118083
49 ARHGAP31 NM_020754.3(ARHGAP31): c.1178A> G (p.Lys393Arg) single nucleotide variant Likely benign rs574813801 GRCh38 Chromosome 3, 119401930: 119401930
50 ARHGAP31 NM_020754.3(ARHGAP31): c.1178A> G (p.Lys393Arg) single nucleotide variant Likely benign rs574813801 GRCh37 Chromosome 3, 119120777: 119120777

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:

37
# 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 28)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.93 DLL4 EGF NOTCH1 RBPJ
2 Notch signaling pathway GO:0007219 9.79 DLL4 NOTCH1 RBPJ
3 small GTPase mediated signal transduction GO:0007264 9.78 ARHGAP31 CDC42 DOCK6
4 positive regulation of Notch signaling pathway GO:0045747 9.67 DLL4 NOTCH1 RBPJ
5 negative regulation of epidermal growth factor receptor signaling pathway GO:0042059 9.64 CDC42 EGF
6 aortic valve morphogenesis GO:0003180 9.63 DLL4 NOTCH1
7 protein O-linked glycosylation GO:0006493 9.63 EOGT OGT POMGNT2
8 negative regulation of ossification GO:0030279 9.62 NOTCH1 RBPJ
9 positive regulation of transcription of Notch receptor target GO:0007221 9.61 NOTCH1 RBPJ
10 inflammatory response to antigenic stimulus GO:0002437 9.6 NOTCH1 RBPJ
11 epithelial to mesenchymal transition involved in endocardial cushion formation GO:0003198 9.59 NOTCH1 RBPJ
12 cardiac left ventricle morphogenesis GO:0003214 9.58 NOTCH1 RBPJ
13 cardiac ventricle morphogenesis GO:0003208 9.57 DLL4 NOTCH1
14 dorsal aorta morphogenesis GO:0035912 9.56 DLL4 RBPJ
15 pericardium morphogenesis GO:0003344 9.55 DLL4 NOTCH1
16 angiogenesis GO:0001525 9.55 DLL4 EGF LAMA5 NOTCH1 RBPJ
17 cardiac atrium morphogenesis GO:0003209 9.54 DLL4 NOTCH1
18 interleukin-4 secretion GO:0072602 9.52 NOTCH1 RBPJ
19 positive regulation of transcription from RNA polymerase II promoter in response to hypoxia GO:0061419 9.51 NOTCH1 RBPJ
20 endocardium development GO:0003157 9.48 NOTCH1 RBPJ
21 auditory receptor cell fate commitment GO:0009912 9.43 NOTCH1 RBPJ
22 branching morphogenesis of an epithelial tube GO:0048754 9.43 EGF LAMA5 NOTCH1
23 regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation GO:0003256 9.4 NOTCH1 RBPJ
24 blood vessel lumenization GO:0072554 9.37 DLL4 RBPJ
25 endocardium morphogenesis GO:0003160 9.32 NOTCH1 RBPJ
26 ventricular trabecula myocardium morphogenesis GO:0003222 9.13 DLL4 NOTCH1 RBPJ
27 Notch signaling involved in heart development GO:0061314 8.8 DLL4 NOTCH1 RBPJ
28 cell differentiation GO:0030154 10.06 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
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
Content
Loading form....