AOS3
MCID: ADM008
MIFTS: 25

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 56 73 29 13 6 71
Aos3 56 73
Adams-Oliver Syndrome, Type 3 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
adams-oliver syndrome 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 614814
OMIM Phenotypic Series 56 PS100300
UMLS 71 C3553748

Summaries for Adams-Oliver Syndrome 3

UniProtKB/Swiss-Prot : 73 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, also known as aos3, is related to adams-oliver syndrome. An important gene associated with Adams-Oliver Syndrome 3 is RBPJ (Recombination Signal Binding Protein For Immunoglobulin Kappa J Region). Affiliated tissues include heart, bone and skin, and related phenotypes are global developmental delay and blepharophimosis

OMIM : 56 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

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 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 adams-oliver syndrome 11.3

Symptoms & Phenotypes for Adams-Oliver Syndrome 3

Human phenotypes related to Adams-Oliver Syndrome 3:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 occasional (7.5%) HP:0001263
2 blepharophimosis 31 occasional (7.5%) HP:0000581
3 short palpebral fissure 31 occasional (7.5%) HP:0012745
4 psychomotor retardation 31 very rare (1%) HP:0025356
5 microcephaly 31 HP:0000252
6 2-3 toe syndactyly 31 HP:0004691
7 short distal phalanx of finger 31 HP:0009882
8 absent toe 31 HP:0010760
9 short metatarsal 31 HP:0010743
10 aplasia cutis congenita 31 HP:0001057

Symptoms via clinical synopsis from OMIM:

56
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 29 RBPJ

Anatomical Context for Adams-Oliver Syndrome 3

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

40
Heart, Bone, Skin, Brain, Colon, Eye

Publications for Adams-Oliver Syndrome 3

Articles related to Adams-Oliver Syndrome 3:

# Title Authors PMID Year
1
RBPJ mutations identified in two families affected by Adams-Oliver syndrome. 56 6
22883147 2012
2
Adams-Oliver Syndrome 6
27077170 2016
3
Suppression of allene oxide synthase 3 in potato increases degree of arbuscular mycorrhizal fungal colonization. 61
26629611 2016

Variations for Adams-Oliver Syndrome 3

ClinVar genetic disease variations for Adams-Oliver Syndrome 3:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RBPJ NM_005349.3(RBPJ):c.188A>G (p.Glu63Gly)SNV Pathogenic 37053 rs387907270 4:26407886-26407886 4:26406264-26406264
2 RBPJ NM_005349.3(RBPJ):c.505A>G (p.Lys169Glu)SNV Pathogenic 37054 rs387907271 4:26422317-26422317 4:26420695-26420695
3 RBPJ NM_005349.3(RBPJ):c.193A>G (p.Arg65Gly)SNV Likely pathogenic 523586 rs1553878211 4:26407891-26407891 4:26406269-26406269
4 RBPJ NM_005349.3(RBPJ):c.196T>G (p.Phe66Val)SNV Likely pathogenic 523587 rs1553880029 4:26417098-26417098 4:26415476-26415476
5 RBPJ NM_005349.3(RBPJ):c.996C>A (p.Ser332Arg)SNV Likely pathogenic 523588 rs1553882550 4:26431588-26431588 4:26429966-26429966

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

73
# Symbol AA change Variation ID SNP ID
1 RBPJ p.Glu63Gly VAR_068929 rs387907270
2 RBPJ p.Lys169Glu VAR_068930 rs387907271

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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