MCID: ADM008
MIFTS: 20

Adams-Oliver Syndrome 3

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

Aliases & Classifications for Adams-Oliver Syndrome 3

MalaCards integrated aliases for Adams-Oliver Syndrome 3:

Name: Adams-Oliver Syndrome 3 53 71 28 13 69
Aos3 53 71

Characteristics:

OMIM:

53
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:



Summaries for Adams-Oliver Syndrome 3

UniProtKB/Swiss-Prot : 71 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, and has symptoms including global developmental delay, microcephaly and blepharophimosis. 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.

OMIM : 53 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

Symptoms via clinical synopsis from OMIM:

53
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

Human phenotypes related to Adams-Oliver Syndrome 3:

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

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 28 RBPJ

Anatomical Context for Adams-Oliver Syndrome 3

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

38
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:

71
# 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.505A> G (p.Lys169Glu) single nucleotide variant Pathogenic rs387907271 GRCh37 Chromosome 4, 26422317: 26422317

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
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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