MCID: ADM005
MIFTS: 30

Adams-Oliver Syndrome 1

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

Aliases & Classifications for Adams-Oliver Syndrome 1

MalaCards integrated aliases for Adams-Oliver Syndrome 1:

Name: Adams-Oliver Syndrome 1 54 24 71 29 13
Aos1 24 71
Aplasia Cutis Congenita with Terminal Transverse Limb Defects 71
Congenital Scalp Defects with Distal Limb Reduction Anomalies 71
Absence Defect of Limbs Scalp and Skull 71
Adams Oliver Syndrome 69

Characteristics:

OMIM:

54
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 : 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 aos1, is related to adams-oliver syndrome and adams-oliver syndrome 4, and has symptoms including brachydactyly, ventriculomegaly and seizures. An important gene associated with Adams-Oliver Syndrome 1 is ARHGAP31 (Rho GTPase Activating Protein 31). Affiliated tissues include heart, skin and bone.

OMIM : 54
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 4 Adams-Oliver Syndrome 1
Adams-Oliver Syndrome 3 Adams-Oliver Syndrome 5
Adams-Oliver Syndrome 6 Adams-Oliver Syndrome 2

Diseases related to Adams-Oliver Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 adams-oliver syndrome 11.3
2 adams-oliver syndrome 4 10.8
3 adams-oliver syndrome 3 10.8
4 adams-oliver syndrome 5 10.8
5 adams-oliver syndrome 6 10.8
6 adams-oliver syndrome 2 10.8

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

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hypotonia
developmental delay
seizures
pachygyria
polymicrogyria
more
Skin Nails & Hair- Nails:
hypoplastic nails

Head And Neck- Mouth:
cleft palate
cleft lip

Head And Neck- Eyes:
microphthalmia
esotropia

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- External Features:
poland sequence

Genitourinary- Internal Genitalia Female:
imperforate vaginal hymen

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

Skeletal- Hands:
brachydactyly
syndactyly

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

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

Skeletal- Feet:
talipes equinovarus
syndactyly
malformed toes

Cardiovascular- Vascular:
pulmonary hypertension
pulmonary artery stenosis
vascular malformations

Chest- Breasts:
accessory nipples

Skeletal- Skull:
skull defect at vertex

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

id Genetic test Affiliating Genes
1 Adams-Oliver Syndrome 1 29 24

Anatomical Context for Adams-Oliver Syndrome 1

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

39
Heart, Skin, Bone, Brain

Publications for Adams-Oliver Syndrome 1

Variations for Adams-Oliver Syndrome 1

ClinVar genetic disease variations for Adams-Oliver Syndrome 1:

6
id 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
3 NOTCH1 NM_017617.4(NOTCH1): c.5965G> A (p.Asp1989Asn) single nucleotide variant Pathogenic/Likely pathogenic rs587777734 GRCh38 Chromosome 9, 136499229: 136499229
4 NOTCH1 NM_017617.4(NOTCH1): c.743-1G> T single nucleotide variant Pathogenic/Likely pathogenic rs587777735 GRCh38 Chromosome 9, 136519566: 136519566
5 NOTCH1 NM_017617.4(NOTCH1): c.1285T> C (p.Cys429Arg) single nucleotide variant Pathogenic/Likely pathogenic rs587777736 GRCh38 Chromosome 9, 136517908: 136517908
6 NOTCH1 NC_000009.12: g.136545168_136630028del84861 deletion Pathogenic/Likely pathogenic GRCh38 Chromosome 9, 136545168: 136630028

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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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