AOS3
MCID: ADM008
MIFTS: 21

Adams-Oliver Syndrome 3 (AOS3)

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 3

MalaCards integrated aliases for Adams-Oliver Syndrome 3:

Name: Adams-Oliver Syndrome 3 58 76 30 13 6 74
Aos3 58 76
Adams-Oliver Syndrome, Type 3 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
no cardiac or immune defects in patients from the 2 reported families


HPO:

33
adams-oliver syndrome 3:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Adams-Oliver Syndrome 3

UniProtKB/Swiss-Prot : 76 Adams-Oliver syndrome 3: An autosomal dominant form of Adams-Oliver syndrome, 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. AOS3 patients manifest characteristic vertex scalp defects and terminal limb defects, but without congenital heart defects, other associated defects, or immune defects.

MalaCards based summary : Adams-Oliver Syndrome 3, is also known as aos3. An important gene associated with Adams-Oliver Syndrome 3 is RBPJ (Recombination Signal Binding Protein For Immunoglobulin Kappa J Region). Affiliated tissues include heart, skin and brain, and related phenotypes are global developmental delay and blepharophimosis

OMIM : 58 Hassed et al. (2012) described an autosomal dominant form of Adams-Oliver syndrome involving characteristic vertex scalp defects and terminal limb defects, but without congenital heart defects, other associated defects, or immune defects. For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (100300). (614814)

Related Diseases for Adams-Oliver Syndrome 3

Symptoms & Phenotypes for Adams-Oliver Syndrome 3

Human phenotypes related to Adams-Oliver Syndrome 3:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 33 occasional (7.5%) HP:0001263
2 blepharophimosis 33 occasional (7.5%) HP:0000581
3 short palpebral fissure 33 occasional (7.5%) HP:0012745
4 microcephaly 33 HP:0000252
5 short distal phalanx of finger 33 HP:0009882
6 absent toe 33 HP:0010760
7 2-3 toe syndactyly 33 HP:0004691
8 short metatarsal 33 HP:0010743
9 aplasia cutis congenita 33 HP:0001057

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
microcephaly
cutis aplasia

Skeletal Hands:
short distal phalanges
shortening of the hands, asymmetric

Head And Neck Eyes:
short palpebral fissures (in some patients)

Skeletal Limbs:
terminal transverse defects, asymmetric

Immunology:
no immune defects reported

Skeletal Feet:
short metatarsals
syndactyly of second and third toes
reductions of the feet, asymmetric
absent toes

Neurologic Central Nervous System:
psychomotor retardation (in some patients)

Cardiovascular Heart:
no defects reported

Skin Nails Hair Skin:
cutis aplasia of scalp

Clinical features from OMIM:

614814

Drugs & Therapeutics for Adams-Oliver Syndrome 3

Search Clinical Trials , NIH Clinical Center for Adams-Oliver Syndrome 3

Genetic Tests for Adams-Oliver Syndrome 3

Genetic tests related to Adams-Oliver Syndrome 3:

# Genetic test Affiliating Genes
1 Adams-Oliver Syndrome 3 30 RBPJ

Anatomical Context for Adams-Oliver Syndrome 3

MalaCards organs/tissues related to Adams-Oliver Syndrome 3:

42
Heart, Skin, Brain, Bone

Publications for Adams-Oliver Syndrome 3

Variations for Adams-Oliver Syndrome 3

UniProtKB/Swiss-Prot genetic disease variations for Adams-Oliver Syndrome 3:

76
# Symbol AA change Variation ID SNP ID
1 RBPJ p.Glu63Gly VAR_068929 rs387907270
2 RBPJ p.Lys169Glu VAR_068930 rs387907271

ClinVar genetic disease variations for Adams-Oliver Syndrome 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RBPJ NM_005349.3(RBPJ): c.188A> G (p.Glu63Gly) single nucleotide variant Pathogenic rs387907270 GRCh37 Chromosome 4, 26407886: 26407886
2 RBPJ NM_005349.3(RBPJ): c.188A> G (p.Glu63Gly) single nucleotide variant Pathogenic rs387907270 GRCh38 Chromosome 4, 26406264: 26406264
3 RBPJ NM_005349.3(RBPJ): c.505A> G (p.Lys169Glu) single nucleotide variant Pathogenic rs387907271 GRCh37 Chromosome 4, 26422317: 26422317
4 RBPJ NM_005349.3(RBPJ): c.505A> G (p.Lys169Glu) single nucleotide variant Pathogenic rs387907271 GRCh38 Chromosome 4, 26420695: 26420695
5 RBPJ NM_005349.3(RBPJ): c.193A> G (p.Arg65Gly) single nucleotide variant Likely pathogenic rs1553878211 GRCh37 Chromosome 4, 26407891: 26407891
6 RBPJ NM_005349.3(RBPJ): c.193A> G (p.Arg65Gly) single nucleotide variant Likely pathogenic rs1553878211 GRCh38 Chromosome 4, 26406269: 26406269
7 RBPJ NM_005349.3(RBPJ): c.196T> G (p.Phe66Val) single nucleotide variant Likely pathogenic rs1553880029 GRCh37 Chromosome 4, 26417098: 26417098
8 RBPJ NM_005349.3(RBPJ): c.196T> G (p.Phe66Val) single nucleotide variant Likely pathogenic rs1553880029 GRCh38 Chromosome 4, 26415476: 26415476
9 RBPJ NM_005349.3(RBPJ): c.996C> A (p.Ser332Arg) single nucleotide variant Likely pathogenic rs1553882550 GRCh37 Chromosome 4, 26431588: 26431588
10 RBPJ NM_005349.3(RBPJ): c.996C> A (p.Ser332Arg) single nucleotide variant Likely pathogenic rs1553882550 GRCh38 Chromosome 4, 26429966: 26429966

Expression for Adams-Oliver Syndrome 3

Search GEO for disease gene expression data for Adams-Oliver Syndrome 3.

Pathways for Adams-Oliver Syndrome 3

GO Terms for Adams-Oliver Syndrome 3

Sources for Adams-Oliver Syndrome 3

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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