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 57 74 29 13 6 72
Aos3 57 74
Adams-Oliver Syndrome, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
adams-oliver syndrome 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

UMLS 72 C3553748

Summaries for Adams-Oliver Syndrome 3

UniProtKB/Swiss-Prot : 74 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, brain and skin, and related phenotypes are global developmental delay and blepharophimosis

OMIM : 57 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:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 occasional (7.5%) HP:0001263
2 blepharophimosis 32 occasional (7.5%) HP:0000581
3 short palpebral fissure 32 occasional (7.5%) HP:0012745
4 psychomotor retardation 32 very rare (1%) HP:0025356
5 microcephaly 32 HP:0000252
6 short distal phalanx of finger 32 HP:0009882
7 absent toe 32 HP:0010760
8 2-3 toe syndactyly 32 HP:0004691
9 short metatarsal 32 HP:0010743
10 aplasia cutis congenita 32 HP:0001057

Symptoms via clinical synopsis from OMIM:

57
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:

41
Heart, Brain, Skin, Bone, Colon

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. 8 71
22883147 2012
2
Adams-Oliver Syndrome 71
27077170 2016
3
Suppression of allene oxide synthase 3 in potato increases degree of arbuscular mycorrhizal fungal colonization. 38
26629611 2016

Variations for Adams-Oliver Syndrome 3

ClinVar genetic disease variations for Adams-Oliver Syndrome 3:

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

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

74
# 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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