AOS1
MCID: ADM005
MIFTS: 39

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 75 29 13 6
Congenital Scalp Defects with Distal Limb Reduction Anomalies 57 75
Aplasia Cutis Congenita with Terminal Transverse Limb Defects 57 75
Aos1 57 75
Absence Defect of Limbs, Scalp, and Skull 57
Absence Defect of Limbs Scalp and Skull 75
Adams-Oliver Syndrome, Type 1 40
Adams Oliver Syndrome 73
Aos 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
adams-oliver syndrome 1:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Adams-Oliver Syndrome 1

UniProtKB/Swiss-Prot : 75 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 and atelosteogenesis, type ii, and has symptoms including seizures An important gene associated with Adams-Oliver Syndrome 1 is ARHGAP31 (Rho GTPase Activating Protein 31). Affiliated tissues include heart, skin and brain, and related phenotypes are hypertension and intellectual disability

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)

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 all 45)
# Related Disease Score Top Affiliating Genes
1 adams-oliver syndrome 11.9
2 atelosteogenesis, type ii 11.4
3 oliver syndrome 11.2
4 loeys-dietz syndrome 3 11.1
5 progressive supranuclear palsy-progressive non-fluent aphasia syndrome 11.1
6 adams-oliver syndrome 2 11.0
7 adams-oliver syndrome 3 11.0
8 adams-oliver syndrome 4 11.0
9 adams-oliver syndrome 5 11.0
10 adams-oliver syndrome 6 11.0
11 aplasia cutis congenita, nonsyndromic 11.0
12 supravalvular aortic stenosis 11.0
13 aortic valve disease 2 11.0
14 progressive non-fluent aphasia 11.0
15 ovarian cancer 10.1
16 asthma 10.1
17 spinal cord injury 10.0
18 atelosteogenesis 10.0
19 compartment syndrome 10.0
20 fish-eye disease 9.9
21 osteoporosis 9.9
22 pick disease of brain 9.9
23 rheumatoid arthritis 9.9
24 leukemia, chronic myeloid 9.9
25 malaria 9.9
26 bone mineral density quantitative trait locus 8 9.9
27 bone mineral density quantitative trait locus 15 9.9
28 angina pectoris 9.9
29 pulmonary hypertension 9.9
30 alcohol abuse 9.9
31 arthritis 9.9
32 keratoconus 9.9
33 leukemia 9.9
34 osteochondritis dissecans 9.9
35 apraxia 9.9
36 hereditary spherocytosis 9.9
37 low tension glaucoma 9.9
38 neovascular glaucoma 9.9
39 optic nerve disease 9.9
40 constipation 9.9
41 blood group incompatibility 9.9
42 neuropathy 9.9
43 blepharitis 9.9
44 allergic encephalomyelitis 9.9
45 primary progressive apraxia of speech 9.9

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
pachygyria
polymicrogyria
hypoplasia of the corpus callosum
cortical dysplasia
more
Head And Neck Mouth:
cleft palate
cleft lip

Skeletal Feet:
talipes equinovarus
syndactyly
malformed toes

Skeletal Hands:
brachydactyly
syndactyly

Skin Nails Hair Skin:
cutis marmorata
aplasia cutis congenita over posterior parietal area
aplasia cutis congenita on trunk or limbs
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

Head And Neck Eyes:
microphthalmia
esotropia

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

Human phenotypes related to Adams-Oliver Syndrome 1:

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

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:

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

Publications for Adams-Oliver Syndrome 1

Articles related to Adams-Oliver Syndrome 1:

(show top 50) (show all 124)
# Title Authors Year
1
Adams Oliver syndrome with cerebellar cortical dysplasia. ( 29680918 )
2018
2
Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. ( 29924900 )
2018
3
Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype. ( 29631299 )
2018
4
Adams-Oliver Syndrome: Limited Expression. ( 29948730 )
2018
5
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
6
Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome. ( 28446798 )
2017
7
Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations. ( 28884918 )
2017
8
Corrigendum: Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome. ( 28839276 )
2017
9
Use of an epidermal growth factor-infused foam dressing in a complicated case of Adams-Oliver syndrome. ( 28598754 )
2017
10
Adams-Oliver Syndrome With Moyamoya Disease for Cerebral Revascularisation Surgery. ( 29028653 )
2017
11
A Case of Adams-Oliver Syndrome. ( 29387678 )
2017
12
Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. ( 28160419 )
2017
13
Adams-Oliver Syndrome with Unusual Central Nervous System Findings and an Extrahepatic Portosystemic Shunt. ( 28706620 )
2017
14
Letter regarding "Distal Limb Defects and Aplasia Cutis: Adams-Oliver Syndrome". ( 27402369 )
2016
15
Distal Limb Defects and Aplasia Cutis: Adams-Oliver Syndrome. ( 27178874 )
2016
16
Adams-Oliver Syndrome: A Case with Full Expression. ( 27433307 )
2016
17
Adams-Oliver syndrome associated with gastrointestinal malformations. ( 27888223 )
2016
18
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. ( 26457590 )
2015
19
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
20
Cardiovascular malformations in Adams-Oliver syndrome. ( 25885069 )
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
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. ( 25963545 )
2015
23
DLL4 loss-of-function heterozygous mutations cause Adams-Oliver syndrome. ( 26419402 )
2015
24
Multiple tics in a patient with Adams-Oliver syndrome. ( 25716509 )
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
Adams-Oliver syndrome in a newborn infant. ( 24697559 )
2014
30
Severe phenotype in two half-sibs with Adams Oliver syndrome. ( 24862819 )
2014
31
Adams-Oliver Syndrome - Follow-up of a Large Scalp Defect. ( 24515817 )
2014
32
Adams-Oliver Syndrome: A Case Report. ( 25556654 )
2014
33
Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations. ( 25091416 )
2014
34
Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations. ( 24668619 )
2014
35
Adams-Oliver syndrome: new evidence in variable expressivity? ( 24372423 )
2013
36
Unique variant of Adams-Oliver syndrome with dilated cardiomyopathy and heart block. ( 23910800 )
2013
37
Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. ( 23522784 )
2013
38
Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family. ( 24505229 )
2013
39
Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase. ( 23860037 )
2013
40
Parental allografts in the management of Adams-Oliver syndrome. ( 23740178 )
2013
41
Adams-Oliver syndrome. ( 24320818 )
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
Adams-Oliver syndrome and portal hypertension: fortuitous association or common mechanism? ( 22307742 )
2012
45
Adams-Oliver syndrome and familial MYH9 mutation. ( 22631568 )
2012
46
Adams-Oliver Syndrome. A case with isolated aplasia cutis congenita and skeletal defects. ( 22514587 )
2012
47
Peripheral ischemic retinopathy in Adams-Oliver syndrome. ( 22893088 )
2012
48
Stroke in a child with Adams-Oliver syndrome and mixed diabetic ketoacidosis and hyperglycemic hyperosmolar syndrome. ( 22768669 )
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 1

ClinVar genetic disease variations for Adams-Oliver Syndrome 1:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ARHGAP31 NM_020754.3: c.3260delA deletion Pathogenic
2 ARHGAP31 NM_020754.3(ARHGAP31): c.2047C> T (p.Gln683Ter) single nucleotide variant Pathogenic rs387907031 GRCh38 Chromosome 3, 119413976: 119413976
3 ARHGAP31 NM_020754.3(ARHGAP31): c.2047C> T (p.Gln683Ter) single nucleotide variant Pathogenic rs387907031 GRCh37 Chromosome 3, 119132823: 119132823
4 ARHGAP31 NM_020754.3(ARHGAP31): c.2182C> T (p.Gln728Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 119132958: 119132958
5 ARHGAP31 NM_020754.3(ARHGAP31): c.2182C> T (p.Gln728Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 119414111: 119414111

Expression for Adams-Oliver Syndrome 1

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

Pathways for Adams-Oliver Syndrome 1

GO Terms for Adams-Oliver Syndrome 1

Sources for Adams-Oliver Syndrome 1

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
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