AOS
MCID: ADM011
MIFTS: 53

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 77 25 54 26 60 38 30 6 15 41
Adams Oliver Syndrome 12 54 45 74
Congenital Scalp Defects with Distal Limb Reduction Anomalies 54 26 60
Aos 54 26 60
Aplasia Cutis Congenita with Terminal Transverse Limb Defects 25 26
Congenital Scalp Defects with Distal Limb Anomalies 54 60
Limb, Scalp and Skull Defects 54 60
Absence Defect of Limbs, Scalp, and Skull 26
Limb Scalp and Skull Defects 54

Characteristics:

Orphanet epidemiological data:

60
adams-oliver syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Neonatal;

GeneReviews:

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

Classifications:



Summaries for Adams-Oliver Syndrome

NIH Rare Diseases : 54 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 DOCK6 (Dedicator Of Cytokinesis 6), 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 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.

Genetics Home Reference : 26 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 : 77 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 84)
# Related Disease Score Top Affiliating Genes
1 adams-oliver syndrome 2 34.7 DOCK6 LOC105372273
2 adams-oliver syndrome 5 34.5 MIR4673 NOTCH1
3 oliver syndrome 30.5 ARHGAP31 DLL4 DOCK6 EOGT LOC105372273 MIR4673
4 aplasia cutis congenita 30.4 ARHGAP31 DLL4 DOCK6 EOGT NOTCH1 RBPJ
5 adams-oliver syndrome 3 12.9
6 adams-oliver syndrome 4 12.8
7 adams-oliver syndrome 1 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 telangiectasia, hereditary hemorrhagic, type 4 11.0
16 aortic valve disease 2 11.0
17 progressive non-fluent aphasia 11.0
18 cutis marmorata telangiectatica congenita 10.3
19 periventricular leukomalacia 10.2
20 epilepsy 10.2
21 leukomalacia 10.2
22 hepatoportal sclerosis 10.2
23 pili gemini 10.2
24 brachydactyly 10.2
25 ovarian cancer 10.1
26 atrial standstill 1 10.1
27 septooptic dysplasia 10.1
28 moyamoya disease 1 10.1
29 leukemia, chronic myeloid 10.1
30 diabetes mellitus, ketosis-prone 10.1
31 pulmonary hypertension 10.1
32 cataract 10.1
33 dilated cardiomyopathy 10.1
34 leukemia 10.1
35 portal hypertension 10.1
36 microcephaly 10.1
37 hemiplegia 10.1
38 optic disk drusen 10.1
39 vascular disease 10.1
40 polymicrogyria 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 pathologic nystagmus 10.0
47 allergic encephalomyelitis 10.0
48 radin blood group antigen 9.9
49 exudative vitreoretinopathy 1 9.9
50 osteoporosis 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:

60 33 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
2 absent toe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010760
3 sparse hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0008070
4 cutis marmorata 60 33 hallmark (90%) Very frequent (99-80%) HP:0000965
5 absent hand 60 33 hallmark (90%) Very frequent (99-80%) HP:0004050
6 aplasia cutis congenita 60 33 hallmark (90%) Very frequent (99-80%) HP:0001057
7 calvarial skull defect 33 hallmark (90%) HP:0001362
8 finger syndactyly 60 33 frequent (33%) Frequent (79-30%) HP:0006101
9 hydrocephalus 60 33 frequent (33%) Frequent (79-30%) HP:0000238
10 cataract 60 33 frequent (33%) Frequent (79-30%) HP:0000518
11 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
12 microphthalmia 60 33 frequent (33%) Frequent (79-30%) HP:0000568
13 abnormality of the metacarpal bones 60 33 frequent (33%) Frequent (79-30%) HP:0001163
14 brachydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001156
15 tetralogy of fallot 60 33 frequent (33%) Frequent (79-30%) HP:0001636
16 split hand 60 33 frequent (33%) Frequent (79-30%) HP:0001171
17 short distal phalanx of finger 60 33 frequent (33%) Frequent (79-30%) HP:0009882
18 talipes 60 33 frequent (33%) Frequent (79-30%) HP:0001883
19 pulmonary artery atresia 60 33 frequent (33%) Frequent (79-30%) HP:0004935
20 abnormal pulmonary valve morphology 33 frequent (33%) HP:0001641
21 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
22 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
23 eeg abnormality 60 33 occasional (7.5%) Occasional (29-5%) HP:0002353
24 hypertonia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001276
25 portal hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0001409
26 ascites 60 33 occasional (7.5%) Occasional (29-5%) HP:0001541
27 pulmonary arterial hypertension 60 33 occasional (7.5%) Occasional (29-5%) HP:0002092
28 arteriovenous malformation 60 33 occasional (7.5%) Occasional (29-5%) HP:0100026
29 alopecia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001596
30 cirrhosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001394
31 thrombocytopenia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001873
32 congenital hepatic fibrosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002612
33 gastrointestinal hemorrhage 60 33 occasional (7.5%) Occasional (29-5%) HP:0002239
34 esophageal varix 60 33 occasional (7.5%) Occasional (29-5%) HP:0002040
35 hypoplastic fingernail 60 33 occasional (7.5%) Occasional (29-5%) HP:0001804
36 encephalocele 60 33 occasional (7.5%) Occasional (29-5%) HP:0002084
37 premature birth 60 33 occasional (7.5%) Occasional (29-5%) HP:0001622
38 aplastic/hypoplastic toenail 60 33 occasional (7.5%) Occasional (29-5%) HP:0010624
39 leukopenia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001882
40 hemiparesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001269
41 absent fingernail 60 33 occasional (7.5%) Occasional (29-5%) HP:0001817
42 periventricular leukomalacia 60 33 occasional (7.5%) Occasional (29-5%) HP:0006970
43 porencephalic cyst 33 occasional (7.5%) HP:0002132
44 aplasia/hypoplasia of the skin 60 Very frequent (99-80%)
45 abnormality of the pulmonary valve 60 Frequent (79-30%)
46 abnormality of the upper limb 60 Very frequent (99-80%)
47 abnormality of the lower limb 60 Very frequent (99-80%)
48 skull defect 60 Very frequent (99-80%)
49 porencephaly 60 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

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 30

Anatomical Context for Adams-Oliver Syndrome

MalaCards organs/tissues related to Adams-Oliver Syndrome:

42
Skin, Heart, Bone, Eye, Brain

Publications for Adams-Oliver Syndrome

Articles related to Adams-Oliver Syndrome:

(show top 50) (show all 125)
# Title Authors Year
1
Novel compound heterozygous mutations of the DOCK6 gene in a familial case of Adams-Oliver syndrome 2. ( 30898718 )
2019
2
Adams-Oliver Syndrome: Limited Expression. ( 29948730 )
2018
3
Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype. ( 29631299 )
2018
4
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. ( 29924900 )
2018
5
Adams Oliver syndrome with cerebellar cortical dysplasia. ( 29680918 )
2018
6
Adams-Oliver Syndrome with Unusual Central Nervous System Findings and an Extrahepatic Portosystemic Shunt. ( 28706620 )
2017
7
A Case of Adams-Oliver Syndrome. ( 29387678 )
2017
8
Adams-Oliver Syndrome With Moyamoya Disease for Cerebral Revascularisation Surgery. ( 29028653 )
2017
9
Use of an epidermal growth factor-infused foam dressing in a complicated case of Adams-Oliver syndrome. ( 28598754 )
2017
10
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
11
Corrigendum: Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome. ( 28839276 )
2017
12
Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations. ( 28884918 )
2017
13
Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. ( 28160419 )
2017
14
Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome. ( 28446798 )
2017
15
Adams-Oliver syndrome associated with gastrointestinal malformations. ( 27888223 )
2016
16
Adams-Oliver Syndrome: A Case with Full Expression. ( 27433307 )
2016
17
Distal Limb Defects and Aplasia Cutis: Adams-Oliver Syndrome. ( 27178874 )
2016
18
Letter regarding "Distal Limb Defects and Aplasia Cutis: Adams-Oliver Syndrome". ( 27402369 )
2016
19
Multiple tics in a patient with Adams-Oliver syndrome. ( 25716509 )
2015
20
DLL4 loss-of-function heterozygous mutations cause Adams-Oliver syndrome. ( 26419402 )
2015
21
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. ( 25963545 )
2015
22
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. ( 25824905 )
2015
23
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. ( 26457590 )
2015
24
Cardiovascular malformations in Adams-Oliver syndrome. ( 25885069 )
2015
25
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
26
Adams Oliver Syndrome. ( 26244971 )
2015
27
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome. ( 26299364 )
2015
28
Mutations in NOTCH1 cause Adams-Oliver syndrome. ( 25132448 )
2014
29
Adams-Oliver syndrome. ( 24906278 )
2014
30
Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations. ( 25091416 )
2014
31
Adams-Oliver Syndrome: A Case Report. ( 25556654 )
2014
32
Adams-Oliver Syndrome - Follow-up of a Large Scalp Defect. ( 24515817 )
2014
33
Severe phenotype in two half-sibs with Adams Oliver syndrome. ( 24862819 )
2014
34
Adams-Oliver syndrome in a newborn infant. ( 24697559 )
2014
35
Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations. ( 24668619 )
2014
36
Adams-Oliver syndrome. ( 24320818 )
2013
37
Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase. ( 23860037 )
2013
38
Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family. ( 24505229 )
2013
39
Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. ( 23522784 )
2013
40
Adams-Oliver syndrome: new evidence in variable expressivity? ( 24372423 )
2013
41
Unique variant of Adams-Oliver syndrome with dilated cardiomyopathy and heart block. ( 23910800 )
2013
42
Parental allografts in the management of Adams-Oliver syndrome. ( 23740178 )
2013
43
Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome. ( 23613382 )
2013
44
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
45
Peripheral ischemic retinopathy in Adams-Oliver syndrome. ( 22893088 )
2012
46
Adams-Oliver Syndrome. A case with isolated aplasia cutis congenita and skeletal defects. ( 22514587 )
2012
47
Adams-Oliver syndrome and familial MYH9 mutation. ( 22631568 )
2012
48
Stroke in a child with Adams-Oliver syndrome and mixed diabetic ketoacidosis and hyperglycemic hyperosmolar syndrome. ( 22768669 )
2012
49
Adams-Oliver syndrome and portal hypertension: fortuitous association or common mechanism? ( 22307742 )
2012
50
RBPJ mutations identified in two families affected by Adams-Oliver syndrome. ( 22883147 )
2012

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 DOCK6 NM_020812.3(DOCK6): c.1362_1365delAACT (p.Thr455Serfs) deletion Pathogenic/Likely pathogenic rs730882238 GRCh38 Chromosome 19, 11243279: 11243282
2 DOCK6 NM_020812.3(DOCK6): c.1362_1365delAACT (p.Thr455Serfs) deletion Pathogenic/Likely pathogenic rs730882238 GRCh37 Chromosome 19, 11353955: 11353958
3 ARHGAP31 NM_020754.3(ARHGAP31): c.1430C> T (p.Pro477Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200233879 GRCh37 Chromosome 3, 119121029: 119121029
4 ARHGAP31 NM_020754.3(ARHGAP31): c.1430C> T (p.Pro477Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs200233879 GRCh38 Chromosome 3, 119402182: 119402182
5 ARHGAP31 NM_020754.3(ARHGAP31): c.2412G> A (p.Pro804=) single nucleotide variant Uncertain significance rs776194035 GRCh37 Chromosome 3, 119133188: 119133188
6 ARHGAP31 NM_020754.3(ARHGAP31): c.2412G> A (p.Pro804=) single nucleotide variant Uncertain significance rs776194035 GRCh38 Chromosome 3, 119414341: 119414341
7 ARHGAP31 NM_020754.3(ARHGAP31): c.820C> T (p.Pro274Ser) single nucleotide variant Benign/Likely benign rs139600783 GRCh37 Chromosome 3, 119109769: 119109769
8 ARHGAP31 NM_020754.3(ARHGAP31): c.820C> T (p.Pro274Ser) single nucleotide variant Benign/Likely benign rs139600783 GRCh38 Chromosome 3, 119390922: 119390922
9 DLL4 NM_019074.4(DLL4): c.361G> C (p.Ala121Pro) single nucleotide variant Pathogenic rs796065350 GRCh38 Chromosome 15, 40930649: 40930649
10 DLL4 NM_019074.4(DLL4): c.361G> C (p.Ala121Pro) single nucleotide variant Pathogenic rs796065350 GRCh37 Chromosome 15, 41222847: 41222847
11 DLL4 NM_019074.4(DLL4): c.556C> T (p.Arg186Cys) single nucleotide variant Pathogenic rs796065348 GRCh38 Chromosome 15, 40931664: 40931664
12 DLL4 NM_019074.4(DLL4): c.556C> T (p.Arg186Cys) single nucleotide variant Pathogenic rs796065348 GRCh37 Chromosome 15, 41223862: 41223862
13 DLL4 NM_019074.4(DLL4): c.583T> C (p.Phe195Leu) single nucleotide variant Pathogenic rs796065351 GRCh38 Chromosome 15, 40931691: 40931691
14 DLL4 NM_019074.4(DLL4): c.583T> C (p.Phe195Leu) single nucleotide variant Pathogenic rs796065351 GRCh37 Chromosome 15, 41223889: 41223889
15 DLL4 NM_019074.4(DLL4): c.799C> A (p.Pro267Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs796065349 GRCh38 Chromosome 15, 40932396: 40932396
16 DLL4 NM_019074.4(DLL4): c.799C> A (p.Pro267Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs796065349 GRCh37 Chromosome 15, 41224594: 41224594
17 DLL4 NM_019074.4(DLL4): c.1168T> C (p.Cys390Arg) single nucleotide variant Pathogenic rs796065347 GRCh38 Chromosome 15, 40935045: 40935045
18 DLL4 NM_019074.4(DLL4): c.1168T> C (p.Cys390Arg) single nucleotide variant Pathogenic rs796065347 GRCh37 Chromosome 15, 41227243: 41227243
19 DLL4 NM_019074.4(DLL4): c.1169G> A (p.Cys390Tyr) single nucleotide variant Pathogenic rs796065346 GRCh38 Chromosome 15, 40935046: 40935046
20 DLL4 NM_019074.4(DLL4): c.1169G> A (p.Cys390Tyr) single nucleotide variant Pathogenic rs796065346 GRCh37 Chromosome 15, 41227244: 41227244
21 DLL4 NM_019074.4(DLL4): c.1365C> G (p.Cys455Trp) single nucleotide variant Pathogenic rs796065345 GRCh38 Chromosome 15, 40936352: 40936352
22 DLL4 NM_019074.4(DLL4): c.1365C> G (p.Cys455Trp) single nucleotide variant Pathogenic rs796065345 GRCh37 Chromosome 15, 41228550: 41228550
23 DLL4 NM_019074.4(DLL4): c.1660C> T (p.Gln554Ter) single nucleotide variant Pathogenic rs796065344 GRCh38 Chromosome 15, 40936647: 40936647
24 DLL4 NM_019074.4(DLL4): c.1660C> T (p.Gln554Ter) single nucleotide variant Pathogenic rs796065344 GRCh37 Chromosome 15, 41228845: 41228845
25 DLL4 NM_019074.4(DLL4): c.1672C> T (p.Arg558Ter) single nucleotide variant Pathogenic rs61750844 GRCh38 Chromosome 15, 40936659: 40936659
26 DLL4 NM_019074.4(DLL4): c.1672C> T (p.Arg558Ter) single nucleotide variant Pathogenic rs61750844 GRCh37 Chromosome 15, 41228857: 41228857
27 EOGT NM_001278689.1(EOGT): c.1074delA (p.Gly359Aspfs) deletion Pathogenic/Likely pathogenic rs587776994 GRCh37 Chromosome 3, 69037455: 69037455
28 EOGT NM_001278689.1(EOGT): c.1074delA (p.Gly359Aspfs) deletion Pathogenic/Likely pathogenic rs587776994 GRCh38 Chromosome 3, 68988304: 68988304
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 GRCh38 Chromosome 3, 119294756: 119294756
40 ARHGAP31 NM_020754.3(ARHGAP31): c.-149G> A single nucleotide variant Likely benign rs62265186 GRCh37 Chromosome 3, 119013603: 119013603
41 ARHGAP31 NM_020754.3(ARHGAP31): c.203+6C> T single nucleotide variant Likely benign rs141911639 GRCh38 Chromosome 3, 119365424: 119365424
42 ARHGAP31 NM_020754.3(ARHGAP31): c.203+6C> T single nucleotide variant Likely benign rs141911639 GRCh37 Chromosome 3, 119084271: 119084271
43 ARHGAP31 NM_020754.3(ARHGAP31): c.384G> C (p.Leu128=) single nucleotide variant Likely benign rs150339878 GRCh38 Chromosome 3, 119380939: 119380939
44 ARHGAP31 NM_020754.3(ARHGAP31): c.384G> C (p.Leu128=) single nucleotide variant Likely benign rs150339878 GRCh37 Chromosome 3, 119099786: 119099786
45 ARHGAP31 NM_020754.3(ARHGAP31): c.436T> C (p.Leu146=) single nucleotide variant Uncertain significance rs758994452 GRCh38 Chromosome 3, 119382296: 119382296
46 ARHGAP31 NM_020754.3(ARHGAP31): c.436T> C (p.Leu146=) single nucleotide variant Uncertain significance rs758994452 GRCh37 Chromosome 3, 119101143: 119101143
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:

38
# 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....