AOS1
MCID: ADM005
MIFTS: 35

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 58 76 30 13 6
Congenital Scalp Defects with Distal Limb Reduction Anomalies 58 76
Aplasia Cutis Congenita with Terminal Transverse Limb Defects 58 76
Aos1 58 76
Absence Defect of Limbs, Scalp, and Skull 58
Absence Defect of Limbs Scalp and Skull 76
Adams-Oliver Syndrome, Type 1 41
Adams Oliver Syndrome 74
Aos 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
adams-oliver syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Adams-Oliver Syndrome 1

UniProtKB/Swiss-Prot : 76 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 bone, skin and heart, and related phenotypes are hypertension and intellectual disability

OMIM : 58 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 top 50) (show all 63)
# 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 11.1
7 adams-oliver syndrome 3 11.1
8 adams-oliver syndrome 4 11.1
9 adams-oliver syndrome 5 11.1
10 adams-oliver syndrome 6 11.1
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 spinal cord injury 10.0
17 atelosteogenesis 10.0
18 compartment syndrome 10.0
19 pathologic nystagmus 10.0
20 allergic encephalomyelitis 10.0
21 blood group, langereis system 9.9
22 radin blood group antigen 9.9
23 exudative vitreoretinopathy 1 9.9
24 hypertension, essential 9.9
25 meniere disease 9.9
26 osteoporosis 9.9
27 pick disease of brain 9.9
28 rheumatoid arthritis 9.9
29 schizophrenia 9.9
30 spondylolisthesis 9.9
31 asthma 9.9
32 horns in sheep 9.9
33 leukemia, chronic myeloid 9.9
34 malaria 9.9
35 intraocular pressure quantitative trait locus 9.9
36 bone mineral density quantitative trait locus 8 9.9
37 bone mineral density quantitative trait locus 15 9.9
38 spherocytosis, type 2 9.9
39 pulmonary hypertension 9.9
40 alcohol abuse 9.9
41 arthritis 9.9
42 burns 9.9
43 cataract 9.9
44 keratoconus 9.9
45 leukemia 9.9
46 osteochondritis dissecans 9.9
47 osteochondrosis 9.9
48 retinal vein occlusion 9.9
49 apraxia 9.9
50 allergic hypersensitivity disease 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

Human phenotypes related to Adams-Oliver Syndrome 1:

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

Symptoms via clinical synopsis from OMIM:

58
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

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 30 ARHGAP31

Anatomical Context for Adams-Oliver Syndrome 1

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

42
Bone, Skin, Heart, Brain, Eye, Spinal Cord, Myeloid

Publications for Adams-Oliver Syndrome 1

Articles related to Adams-Oliver Syndrome 1:

# Title Authors Year
1
Molecular cloning and characterization of Aos1 and Uba2 from the orange-spotted grouper (Epinephelus coioides). ( 30041050 )
2018
2
Construction of a mouse Aos1-Uba2 chimeric SUMO-E1 enzyme, mAU, and its expression in baculovirus-insect cells. ( 24637489 )
2014
3
High-yield expression of mouse Aos1-Uba2-fusion SUMO-activating enzyme, mAU, in a baculovirus-insect cell system. ( 23832333 )
2013
4
Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. ( 21565291 )
2011
5
Adams-Oliver syndrome: clinical description of a four-generation family and exclusion of five candidate genes. ( 16451141 )
2006
6
Molecular cloning and characterization of human AOS1 and UBA2, components of the sentrin-activating enzyme complex. ( 10217437 )
1999
7
Congenital scalp defects with distal limb reduction anomalies. ( 3656372 )
1987
8
Autosomal dominant inheritance of scalp defects with ectrodactyly. ( 474617 )
1979

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 DOCK6 NM_020812.4(DOCK6): c.3562C> T (p.Gln1188Ter) single nucleotide variant Likely pathogenic rs372751467 GRCh38 Chromosome 19, 11217380: 11217380
2 DOCK6 NM_020812.4(DOCK6): c.3562C> T (p.Gln1188Ter) single nucleotide variant Likely pathogenic rs372751467 GRCh37 Chromosome 19, 11328056: 11328056
3 ARHGAP31 NM_020754.3(ARHGAP31): c.2182C> T (p.Gln728Ter) single nucleotide variant Pathogenic rs1553768038 GRCh37 Chromosome 3, 119132958: 119132958
4 ARHGAP31 NM_020754.3(ARHGAP31): c.2182C> T (p.Gln728Ter) single nucleotide variant Pathogenic rs1553768038 GRCh38 Chromosome 3, 119414111: 119414111
5 ARHGAP31 NM_020754.3(ARHGAP31): c.3260delA (p.Lys1087Serfs) deletion Pathogenic GRCh37 Chromosome 3, 119134036: 119134036
6 ARHGAP31 NM_020754.3(ARHGAP31): c.3260delA (p.Lys1087Serfs) deletion Pathogenic GRCh38 Chromosome 3, 119415189: 119415189
7 ARHGAP31 NM_020754.3(ARHGAP31): c.2047C> T (p.Gln683Ter) single nucleotide variant Pathogenic rs387907031 GRCh38 Chromosome 3, 119413976: 119413976
8 ARHGAP31 NM_020754.3(ARHGAP31): c.2047C> T (p.Gln683Ter) single nucleotide variant Pathogenic rs387907031 GRCh37 Chromosome 3, 119132823: 119132823

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 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
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