MCID: ADM005
MIFTS: 38

Adams-Oliver Syndrome 1

Categories: Genetic diseases, Rare diseases, Fetal diseases, Skin diseases, Bone diseases

Aliases & Classifications for Adams-Oliver Syndrome 1

MalaCards integrated aliases for Adams-Oliver Syndrome 1:

Name: Adams-Oliver Syndrome 1 53 71 28 13
Congenital Scalp Defects with Distal Limb Reduction Anomalies 53 71
Aplasia Cutis Congenita with Terminal Transverse Limb Defects 53 71
Aos1 53 71
Absence Defect of Limbs, Scalp, and Skull 53
Absence Defect of Limbs Scalp and Skull 71
Adams Oliver Syndrome 69
Aos 53

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
adams-oliver syndrome 1:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Adams-Oliver Syndrome 1

UniProtKB/Swiss-Prot : 71 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, intellectual disability and global developmental delay. An important gene associated with Adams-Oliver Syndrome 1 is ARHGAP31 (Rho GTPase Activating Protein 31). Affiliated tissues include heart, skin and brain.

OMIM : 53 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:

# Related Disease Score Top Affiliating Genes
1 adams-oliver syndrome 11.7
2 atelosteogenesis, type ii 11.2
3 adams-oliver syndrome 2 10.9
4 adams-oliver syndrome 3 10.9
5 adams-oliver syndrome 4 10.9
6 adams-oliver syndrome 5 10.9
7 adams-oliver syndrome 6 10.9

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:

53
Neurologic Central Nervous System:
seizures
pachygyria
polymicrogyria
hypoplasia of the corpus callosum
cortical dysplasia
more
Head And Neck Mouth:
cleft palate
cleft lip

Head And Neck Eyes:
microphthalmia
esotropia

Skeletal Feet:
talipes equinovarus
syndactyly
malformed toes

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

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

Human phenotypes related to Adams-Oliver Syndrome 1:

31 (show all 36)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 intellectual disability 31 HP:0001249
3 global developmental delay 31 HP:0001263
4 microcephaly 31 HP:0000252
5 cleft palate 31 HP:0000175
6 pulmonary arterial hypertension 31 HP:0002092
7 alopecia 31 HP:0001596
8 atrial septal defect 31 HP:0001631
9 bicuspid aortic valve 31 HP:0001647
10 hypoplastic left heart 31 HP:0004383
11 ventriculomegaly 31 HP:0002119
12 microphthalmia 31 HP:0000568
13 small nail 31 HP:0001792
14 brachydactyly 31 HP:0001156
15 tetralogy of fallot 31 HP:0001636
16 ventricular septal defect 31 HP:0001629
17 talipes equinovarus 31 HP:0001762
18 pulmonic stenosis 31 HP:0001642
19 pulmonary artery stenosis 31 HP:0004415
20 toe syndactyly 31 HP:0001770
21 cleft upper lip 31 HP:0000204
22 pachygyria 31 HP:0001302
23 polymicrogyria 31 HP:0002126
24 encephalocele 31 HP:0002084
25 cutis marmorata 31 HP:0000965
26 hypoplasia of the corpus callosum 31 HP:0002079
27 aortic valve stenosis 31 HP:0001650
28 supernumerary nipple 31 HP:0002558
29 cortical dysplasia 31 HP:0002539
30 generalized hypotonia 31 HP:0001290
31 esotropia 31 HP:0000565
32 periventricular leukomalacia 31 HP:0006970
33 aplasia cutis congenita over posterior parietal area 31 HP:0007590
34 aplasia cutis congenita on trunk or limbs 31 HP:0007589
35 imperforate hymen 31 HP:0030011
36 calvarial skull defect 31 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 28 ARHGAP31

Anatomical Context for Adams-Oliver Syndrome 1

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

38
Heart, Skin, Brain, Bone

Publications for Adams-Oliver Syndrome 1

Articles related to Adams-Oliver Syndrome 1:

(show top 50) (show all 119)
# Title Authors Year
1
Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations. ( 28884918 )
2017
2
A Case of Adams-Oliver Syndrome. ( 29387678 )
2017
3
Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome. ( 28446798 )
2017
4
Adams-Oliver Syndrome with Unusual Central Nervous System Findings and an Extrahepatic Portosystemic Shunt. ( 28706620 )
2017
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
Adams-Oliver Syndrome With Moyamoya Disease for Cerebral Revascularisation Surgery. ( 29028653 )
2017
7
Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. ( 28160419 )
2017
8
Use of an epidermal growth factor-infused foam dressing in a complicated case of Adams-Oliver syndrome. ( 28598754 )
2017
9
Corrigendum: Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome. ( 28839276 )
2017
10
Distal Limb Defects and Aplasia Cutis: Adams-Oliver Syndrome. ( 27178874 )
2016
11
Adams-Oliver Syndrome: A Case with Full Expression. ( 27433307 )
2016
12
Adams-Oliver syndrome associated with gastrointestinal malformations. ( 27888223 )
2016
13
Multiple tics in a patient with Adams-Oliver syndrome. ( 25716509 )
2015
14
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. ( 26457590 )
2015
15
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies. ( 25824905 )
2015
16
DLL4 loss-of-function heterozygous mutations cause Adams-Oliver syndrome. ( 26419402 )
2015
17
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome. ( 26299364 )
2015
18
Adams Oliver Syndrome. ( 26244971 )
2015
19
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. ( 25963545 )
2015
20
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
21
Cardiovascular malformations in Adams-Oliver syndrome. ( 25885069 )
2015
22
Severe phenotype in two half-sibs with Adams Oliver syndrome. ( 24862819 )
2014
23
Mutations in NOTCH1 cause Adams-Oliver syndrome. ( 25132448 )
2014
24
Adams-Oliver syndrome in a newborn infant. ( 24697559 )
2014
25
Adams-Oliver syndrome. ( 24906278 )
2014
26
Adams-Oliver Syndrome - Follow-up of a Large Scalp Defect. ( 24515817 )
2014
27
Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations. ( 25091416 )
2014
28
Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations. ( 24668619 )
2014
29
Adams-Oliver Syndrome: A Case Report. ( 25556654 )
2014
30
Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase. ( 23860037 )
2013
31
Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome. ( 23613382 )
2013
32
Parental allografts in the management of Adams-Oliver syndrome. ( 23740178 )
2013
33
Adams-Oliver syndrome. ( 24320818 )
2013
34
Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. ( 23522784 )
2013
35
Unique variant of Adams-Oliver syndrome with dilated cardiomyopathy and heart block. ( 23910800 )
2013
36
Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family. ( 24505229 )
2013
37
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
38
Adams-Oliver syndrome: new evidence in variable expressivity? ( 24372423 )
2013
39
Adams-Oliver syndrome and portal hypertension: fortuitous association or common mechanism? ( 22307742 )
2012
40
RBPJ mutations identified in two families affected by Adams-Oliver syndrome. ( 22883147 )
2012
41
Adams-Oliver syndrome and familial MYH9 mutation. ( 22631568 )
2012
42
Stroke in a child with Adams-Oliver syndrome and mixed diabetic ketoacidosis and hyperglycemic hyperosmolar syndrome. ( 22768669 )
2012
43
Peripheral ischemic retinopathy in Adams-Oliver syndrome. ( 22893088 )
2012
44
Adams-Oliver Syndrome. A case with isolated aplasia cutis congenita and skeletal defects. ( 22514587 )
2012
45
Adams-Oliver syndrome, a family with dominant inheritance and a severe phenotype. ( 21785343 )
2011
46
Adams-Oliver syndrome associated with bilateral anterior polar cataracts and optic disk drusen. ( 21641251 )
2011
47
Two different management modalities in a two sibling case report of Adams Oliver syndrome. ( 22670005 )
2011
48
Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. ( 21820096 )
2011
49
A case of adams-oliver syndrome. ( 20548894 )
2010
50
Do children with Adams-Oliver syndrome require endocrine follow-up? New information on the phenotype and management. ( 20560985 )
2010

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(ARHGAP31): c.2047C> T (p.Gln683Ter) single nucleotide variant Pathogenic rs387907031 GRCh37 Chromosome 3, 119132823: 119132823
2 ARHGAP31 ARHGAP31, 1-BP DEL, 3260A deletion Pathogenic

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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