AOS1
MCID: ADM005
MIFTS: 40

Adams-Oliver Syndrome 1 (AOS1)

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 1

MalaCards integrated aliases for Adams-Oliver Syndrome 1:

Name: Adams-Oliver Syndrome 1 57 72 29 13 6
Congenital Scalp Defects with Distal Limb Reduction Anomalies 57 72
Aplasia Cutis Congenita with Terminal Transverse Limb Defects 57 72
Aos1 57 72
Absence Defect of Limbs, Scalp, and Skull 57
Absence Defect of Limbs Scalp and Skull 72
Adams-Oliver Syndrome, Type 1 39
Adams Oliver Syndrome 70
Aos 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
phenotype is classically defined as aplasia cutis and transverse limb defects


HPO:

31
adams-oliver syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Adams-Oliver Syndrome 1

UniProtKB/Swiss-Prot : 72 Adams-Oliver syndrome 1: A disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins.

MalaCards based summary : Adams-Oliver Syndrome 1, also known as congenital scalp defects with distal limb reduction anomalies, is related to adams-oliver syndrome 2 and oliver syndrome, and has symptoms including seizures An important gene associated with Adams-Oliver Syndrome 1 is ARHGAP31 (Rho GTPase Activating Protein 31), and among its related pathways/superpathways is G-protein signaling_Regulation of CDC42 activity. Affiliated tissues include eye, heart and bone, and related phenotypes are intellectual disability and hypertension

OMIM® : 57 Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014). (100300) (Updated 20-May-2021)

Related Diseases for Adams-Oliver Syndrome 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 adams-oliver syndrome 2 31.0 LOC105372273 DOCK6
2 oliver syndrome 29.7 LOC105372273 EOGT DOCK6 DLL4 ARHGAP31
3 adams-oliver syndrome 29.6 LOC105372273 EOGT DOCK6 DLL4 ARHGAP31
4 loeys-dietz syndrome 3 10.9
5 progressive supranuclear palsy-progressive non-fluent aphasia syndrome 10.9
6 adams-oliver syndrome 3 10.9
7 adams-oliver syndrome 4 10.9
8 adams-oliver syndrome 5 10.9
9 adams-oliver syndrome 6 10.9
10 aplasia cutis congenita, nonsyndromic 10.9
11 supravalvular aortic stenosis 10.9
12 aortic valve disease 2 10.9
13 progressive non-fluent aphasia 10.9
14 macular degeneration, age-related, 1 10.1
15 intraocular pressure quantitative trait locus 10.1
16 pulmonary hypertension, primary, 1 10.0
17 retinal detachment 10.0
18 apraxia 10.0
19 eye disease 10.0
20 open-angle glaucoma 10.0
21 neovascular glaucoma 10.0
22 macular retinal edema 10.0
23 pathologic nystagmus 10.0
24 exudative vitreoretinopathy 1 9.8
25 osteoporosis 9.8
26 schizophrenia 9.8
27 triiodothyronine receptor auxiliary protein 9.8
28 vitreoretinopathy, neovascular inflammatory 9.8
29 yemenite deaf-blind hypopigmentation syndrome 9.8
30 bone mineral density quantitative trait locus 8 9.8
31 microvascular complications of diabetes 5 9.8
32 bone mineral density quantitative trait locus 15 9.8
33 schizophrenia 16 9.8
34 speech and communication disorders 9.8
35 deficiency anemia 9.8
36 pulmonary hypertension 9.8
37 exudative vitreoretinopathy 9.8
38 aphasia 9.8
39 keratoconus 9.8
40 kuhnt-junius degeneration 9.8
41 microcephaly 9.8
42 iron deficiency anemia 9.8
43 myopia 9.8
44 retinal vein occlusion 9.8
45 optic nerve disease 9.8
46 iron metabolism disease 9.8
47 pyoderma 9.8
48 aortitis 9.8
49 retinal disease 9.8
50 connective tissue disease 9.8

Graphical network of the top 20 diseases related to Adams-Oliver Syndrome 1:



Diseases related to Adams-Oliver Syndrome 1

Symptoms & Phenotypes for Adams-Oliver Syndrome 1

Human phenotypes related to Adams-Oliver Syndrome 1:

31 (show all 38)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 hypertension 31 HP:0000822
3 global developmental delay 31 HP:0001263
4 microcephaly 31 HP:0000252
5 cleft palate 31 HP:0000175
6 alopecia 31 HP:0001596
7 atrial septal defect 31 HP:0001631
8 bicuspid aortic valve 31 HP:0001647
9 hypoplastic left heart 31 HP:0004383
10 talipes equinovarus 31 HP:0001762
11 brachydactyly 31 HP:0001156
12 cleft upper lip 31 HP:0000204
13 microphthalmia 31 HP:0000568
14 tetralogy of fallot 31 HP:0001636
15 ventriculomegaly 31 HP:0002119
16 ventricular septal defect 31 HP:0001629
17 pulmonic stenosis 31 HP:0001642
18 pulmonary arterial hypertension 31 HP:0002092
19 pulmonary artery stenosis 31 HP:0004415
20 polymicrogyria 31 HP:0002126
21 toe syndactyly 31 HP:0001770
22 pachygyria 31 HP:0001302
23 encephalocele 31 HP:0002084
24 cutis marmorata 31 HP:0000965
25 hypoplasia of the corpus callosum 31 HP:0002079
26 supernumerary nipple 31 HP:0002558
27 aortic valve stenosis 31 HP:0001650
28 generalized hypotonia 31 HP:0001290
29 small nail 31 HP:0001792
30 periventricular leukomalacia 31 HP:0006970
31 esotropia 31 HP:0000565
32 aplasia cutis congenita on trunk or limbs 31 HP:0007589
33 cortical dysplasia 31 HP:0002539
34 imperforate hymen 31 HP:0030011
35 seizure 31 HP:0001250
36 hypotonia 31 HP:0001252
37 calvarial skull defect 31 HP:0001362
38 aplasia cutis congenita over posterior parietal area 31 HP:0007590

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
polymicrogyria
pachygyria
hypoplasia of the corpus callosum
cortical dysplasia
more
Head And Neck Mouth:
cleft palate
cleft lip

Skeletal Feet:
talipes equinovarus
syndactyly
malformed toes

Head And Neck Eyes:
microphthalmia
esotropia

Skin Nails Hair Skin:
cutis marmorata
aplasia cutis congenita on trunk or limbs
aplasia cutis congenita over posterior parietal area
thin, hyperpigmented skin
dilated scalp veins radiating from periphery of scalp defect

Chest Breasts:
accessory nipples

Skeletal Skull:
skull defect at vertex

Skin Nails Hair Nails:
hypoplastic nails

Head And Neck Head:
microcephaly
aplasia cutis congenita over parietal area

Cardiovascular Heart:
atrial septal defect
tetralogy of fallot
ventricular septal defect
congenital heart defects (in some patients)
pulmonary valve stenosis

Skeletal Hands:
brachydactyly
syndactyly

Cardiovascular Vascular:
pulmonary artery stenosis
pulmonary hypertension
vascular malformations

Chest External Features:
poland sequence

Genitourinary Internal Genitalia Female:
imperforate vaginal hymen

Skeletal Limbs:
terminal transverse defects, asymmetric (minimal to absence of a limb)

Skin Nails Hair Hair:
single-multiple round-oval areas of alopecia in parietal area

Clinical features from OMIM®:

100300 (Updated 20-May-2021)

UMLS symptoms related to Adams-Oliver Syndrome 1:


seizures

Drugs & Therapeutics for Adams-Oliver Syndrome 1

Search Clinical Trials , NIH Clinical Center for Adams-Oliver Syndrome 1

Genetic Tests for Adams-Oliver Syndrome 1

Genetic tests related to Adams-Oliver Syndrome 1:

# Genetic test Affiliating Genes
1 Adams-Oliver Syndrome 1 29 ARHGAP31

Anatomical Context for Adams-Oliver Syndrome 1

MalaCards organs/tissues related to Adams-Oliver Syndrome 1:

40
Eye, Heart, Bone, Brain, Lung, Skin

Publications for Adams-Oliver Syndrome 1

Articles related to Adams-Oliver Syndrome 1:

(show top 50) (show all 83)
# Title Authors PMID Year
1
Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. 6 57
21565291 2011
2
Adams-Oliver syndrome: clinical description of a four-generation family and exclusion of five candidate genes. 57 6
16451141 2006
3
Autosomal dominant inheritance of scalp defects with ectrodactyly. 57 6
474617 1979
4
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. 6
29924900 2018
5
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. 6
26457590 2015
6
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome. 6
26299364 2015
7
Mutations in NOTCH1 cause Adams-Oliver syndrome. 57
25132448 2014
8
The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. 57
19610107 2009
9
Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: a possible link to the Adams-Oliver syndrome. 57
18924173 2008
10
Antenatal and postnatal evidence of periventricular leukomalacia as a further indication of vascular disruption in Adams-Oliver syndrome. 57
18792979 2008
11
Aplasia cutis congenita, congenital heart lesions, and frontonasal cysts in four successive generations. 57
17539905 2007
12
Association of Adams-Oliver syndrome with pulmonary arterio-venous malformation in the same family: a further support to the vascular hypothesis. 57
15948197 2005
13
Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome. 57
15326631 2004
14
Clinical evidence of vascular abnormalities at birth in Adams-Oliver syndrome: report of two further cases. 57
10982487 2000
15
Cerebral cortical dysplasia and digital constriction rings in Adams-Oliver syndrome. 57
10440823 1999
16
The concurrence of ring constrictions in Adams-Oliver syndrome: additional evidence for vascular disruption as common pathogenetic mechanism. 57
10546102 1999
17
Vascular abnormalities in Adams-Oliver syndrome: cause or effect? 57
9916843 1999
18
Adams-Oliver syndrome associated with cardiovascular malformations. 57
9823488 1998
19
Adams-Oliver syndrome: genetics and associated anomalies of cutis aplasia. 57
9385961 1997
20
Congenital cardiac malformations in Adams-Oliver syndrome. 57
7606848 1995
21
Adams Oliver syndrome: a family with extreme variability in clinical expression. 57
8160731 1994
22
Adams-Oliver syndrome: a case with juvenile chronic myelogenous leukemia and chylothorax. 57
8291551 1993
23
Acrania: a manifestation of the Adams-Oliver syndrome. 57
1481809 1992
24
Occipital scalp defect associated with valvular pulmonary stenosis. A new entity? 57
1424238 1992
25
Congenital heart defect in a Japanese girl with Adams-Oliver syndrome: one of the most important complications. 57
1642283 1992
26
Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome: an additional clinical observation. 57
1536190 1992
27
Adams-Oliver syndrome revisited. 57
1951437 1991
28
Adams-Oliver syndrome associated with congenital heart defect: not a coincidence. 57
1887843 1991
29
Possible common pathogenetic mechanisms for Poland sequence and Adams-Oliver syndrome. 57
2012136 1991
30
Congenital scalp and skull defects with terminal transverse limb anomalies (Adams-Oliver syndrome): report of three additional cases. 57
2161342 1990
31
Aplasia cutis congenita associated with congenital heart defect, not a coincidence? 57
2519562 1989
32
Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome-McKusick 10030): further suggestion of autosomal recessive inheritance. 57
2929669 1989
33
Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome): report of ten cases and review of the literature. 57
3066221 1988
34
Scalp and limb defects with cutis marmorata telangiectatica congenita: Adams-Oliver syndrome? 57
3354598 1988
35
Congenital scalp defects with distal limb reduction anomalies. 57
3656372 1987
36
Aplasia cutis congenita: a clinical review and proposal for classification. 57
3514708 1986
37
Aplasia cutis congenita: a report of 12 new families and review of the literature. 57
3906608 1985
38
Aplasia cutis congenita associated with valvular heart disease. 57
3839451 1985
39
[Familial manifestation of a circumscribed cutaneous aplasia of the vertex associated, in one case, with cardiac malformation (author's transl)]. 57
752066 1978
40
Hereditary aplasia cutis congenita and associated defects. Three instances in one family and a survey of reported cases. 57
862297 1977
41
Congenital scalp defects with distal limb anomalies: report of a family. 57
1018305 1976
42
The syndrome of aplasia cutis congenita with terminal, transverse defects of limbs. 57
1173820 1975
43
Aplasia cutis congenita. 57
5536130 1970
44
Both Allene Oxide Synthases Genes Are Involved in the Biosynthesis of Herbivore-Induced Jasmonic Acid and Herbivore Resistance in Rice. 61
33652695 2021
45
From Skin to Kidneys: Cutaneous Clues of Renal Disease in Children. 61
33150036 2020
46
Genome wide association analysis of a stemborer egg induced "call-for-help" defence trait in maize. 61
32641801 2020
47
The ubiquitin-like modifier FAT10 interferes with SUMO activation. 61
31575873 2019
48
SAPK10-Mediated Phosphorylation on WRKY72 Releases Its Suppression on Jasmonic Acid Biosynthesis and Bacterial Blight Resistance. 61
31229897 2019
49
Mycorrhiza-Induced Resistance in Potato Involves Priming of Defense Responses Against Cabbage Looper (Noctuidae: Lepidoptera). 61
30715218 2019
50
Nitric Oxide-Induced Dormancy Removal of Apple Embryos Is Linked to Alterations in Expression of Genes Encoding ABA and JA Biosynthetic or Transduction Pathways and RNA Nitration. 61
30813543 2019

Variations for Adams-Oliver Syndrome 1

ClinVar genetic disease variations for Adams-Oliver Syndrome 1:

6 (show all 27)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ARHGAP31 NM_020754.4(ARHGAP31):c.3260del (p.Lys1087fs) Deletion Pathogenic 30858 rs1559999373 GRCh37: 3:119134034-119134034
GRCh38: 3:119415187-119415187
2 ARHGAP31 NM_020754.4(ARHGAP31):c.2047C>T (p.Gln683Ter) SNV Pathogenic 30857 rs387907031 GRCh37: 3:119132823-119132823
GRCh38: 3:119413976-119413976
3 ARHGAP31 NM_020754.4(ARHGAP31):c.2182C>T (p.Gln728Ter) SNV Pathogenic 523589 rs1553768038 GRCh37: 3:119132958-119132958
GRCh38: 3:119414111-119414111
4 DLL4 NM_019074.4(DLL4):c.583T>C (p.Phe195Leu) SNV Pathogenic 204376 rs796065351 GRCh37: 15:41223889-41223889
GRCh38: 15:40931691-40931691
5 DLL4 NM_019074.4(DLL4):c.361G>C (p.Ala121Pro) SNV Pathogenic 204375 rs796065350 GRCh37: 15:41222847-41222847
GRCh38: 15:40930649-40930649
6 DLL4 NM_019074.4(DLL4):c.799C>A (p.Pro267Thr) SNV Pathogenic 204374 rs796065349 GRCh37: 15:41224594-41224594
GRCh38: 15:40932396-40932396
7 DLL4 NM_019074.4(DLL4):c.556C>T (p.Arg186Cys) SNV Pathogenic 204373 rs796065348 GRCh37: 15:41223862-41223862
GRCh38: 15:40931664-40931664
8 DLL4 NM_019074.4(DLL4):c.1168T>C (p.Cys390Arg) SNV Pathogenic 204372 rs796065347 GRCh37: 15:41227243-41227243
GRCh38: 15:40935045-40935045
9 DLL4 NM_019074.4(DLL4):c.1169G>A (p.Cys390Tyr) SNV Pathogenic 204371 rs796065346 GRCh37: 15:41227244-41227244
GRCh38: 15:40935046-40935046
10 DLL4 NM_019074.4(DLL4):c.1365C>G (p.Cys455Trp) SNV Pathogenic 204370 rs796065345 GRCh37: 15:41228550-41228550
GRCh38: 15:40936352-40936352
11 DLL4 NM_019074.4(DLL4):c.1672C>T (p.Arg558Ter) SNV Pathogenic 204369 rs61750844 GRCh37: 15:41228857-41228857
GRCh38: 15:40936659-40936659
12 DLL4 NM_019074.4(DLL4):c.1660C>T (p.Gln554Ter) SNV Pathogenic 204368 rs796065344 GRCh37: 15:41228845-41228845
GRCh38: 15:40936647-40936647
13 DOCK6 NM_020812.4(DOCK6):c.3562C>T (p.Gln1188Ter) SNV Likely pathogenic 499360 rs372751467 GRCh37: 19:11328056-11328056
GRCh38: 19:11217380-11217380
14 DOCK6 , LOC105372273 NM_020812.4(DOCK6):c.4576C>T (p.Arg1526Ter) SNV Likely pathogenic 504926 rs374530179 GRCh37: 19:11322743-11322743
GRCh38: 19:11212067-11212067
15 DOCK6 NM_020812.4(DOCK6):c.1362_1365del (p.Thr455fs) Deletion Likely pathogenic 183335 rs730882238 GRCh37: 19:11353955-11353958
GRCh38: 19:11243279-11243282
16 EOGT NM_001278689.2(EOGT):c.1074del (p.Gly359fs) Deletion Likely pathogenic 55817 rs587776994 GRCh37: 3:69037455-69037455
GRCh38: 3:68988304-68988304
17 ARHGAP31 NM_020754.4(ARHGAP31):c.349-9_349-7del Microsatellite Uncertain significance 342628 rs771235886 GRCh37: 3:119099738-119099740
GRCh38: 3:119380891-119380893
18 ARHGAP31 NM_020754.4(ARHGAP31):c.745A>G (p.Ser249Gly) SNV Uncertain significance 1028182 GRCh37: 3:119109694-119109694
GRCh38: 3:119390847-119390847
19 ARHGAP31 NM_020754.4(ARHGAP31):c.3007G>A (p.Ala1003Thr) SNV Uncertain significance 1028181 GRCh37: 3:119133783-119133783
GRCh38: 3:119414936-119414936
20 ARHGAP31 NM_020754.4(ARHGAP31):c.142C>T (p.His48Tyr) SNV Uncertain significance 1028180 GRCh37: 3:119084204-119084204
GRCh38: 3:119365357-119365357
21 ARHGAP31 NM_020754.4(ARHGAP31):c.2411C>A (p.Pro804Gln) SNV Uncertain significance 930605 GRCh37: 3:119133187-119133187
GRCh38: 3:119414340-119414340
22 ARHGAP31 NM_020754.4(ARHGAP31):c.-172_-166CCCGCGG[3] Microsatellite Uncertain significance 342621 rs886057796 GRCh37: 3:119013576-119013577
GRCh38: 3:119294729-119294730
23 ARHGAP31 NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser) SNV Likely benign 198582 rs139600783 GRCh37: 3:119109769-119109769
GRCh38: 3:119390922-119390922
24 ARHGAP31 NM_020754.4(ARHGAP31):c.4139C>T (p.Thr1380Ile) SNV Likely benign 638381 rs9852894 GRCh37: 3:119134915-119134915
GRCh38: 3:119416068-119416068
25 ARHGAP31 NM_020754.4(ARHGAP31):c.*466C>T SNV Likely benign 342683 rs116944967 GRCh37: 3:119135577-119135577
GRCh38: 3:119416730-119416730
26 ARHGAP31 NM_020754.4(ARHGAP31):c.*1533T>C SNV Likely benign 342701 rs567101775 GRCh37: 3:119136644-119136644
GRCh38: 3:119417797-119417797
27 ARHGAP31 NM_020754.4(ARHGAP31):c.3953G>T (p.Gly1318Val) SNV Likely benign 342673 rs529703977 GRCh37: 3:119134729-119134729
GRCh38: 3:119415882-119415882

Expression for Adams-Oliver Syndrome 1

Search GEO for disease gene expression data for Adams-Oliver Syndrome 1.

Pathways for Adams-Oliver Syndrome 1

Pathways related to Adams-Oliver Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.13 DOCK6 ARHGAP31

GO Terms for Adams-Oliver Syndrome 1

Biological processes related to Adams-Oliver Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 small GTPase mediated signal transduction GO:0007264 8.62 ARHGAP31 DOCK6

Sources for Adams-Oliver Syndrome 1

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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