MCID: ADM008
MIFTS: 24

Adams-Oliver Syndrome 3

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

Aliases & Classifications for Adams-Oliver Syndrome 3

MalaCards integrated aliases for Adams-Oliver Syndrome 3:

Name: Adams-Oliver Syndrome 3 54 24 71 29 13 69
Aos3 24 71

Characteristics:

OMIM:

54
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:



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, also known as aos3, is related to pontocerebellar hypoplasia type 2d and mental retardation with language impairment and with or without autistic features, and has symptoms including microcephaly, global developmental delay 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, bone and skin.

OMIM : 54
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

Graphical network of the top 20 diseases related to Adams-Oliver Syndrome 3:



Diseases related to Adams-Oliver Syndrome 3

Symptoms & Phenotypes for Adams-Oliver Syndrome 3

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Head:
microcephaly
cutis aplasia

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

Skin Nails & Hair- Skin:
cutis aplasia of scalp

Cardiovascular- Heart:
no defects reported

Immunology:
no immune defects reported

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

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

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

Skeletal- Limbs:
terminal transverse defects, asymmetric


Clinical features from OMIM:

614814

Human phenotypes related to Adams-Oliver Syndrome 3:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 global developmental delay 32 occasional (7.5%) HP:0001263
3 blepharophimosis 32 occasional (7.5%) HP:0000581
4 2-3 toe syndactyly 32 HP:0004691
5 short metatarsal 32 HP:0010743
6 short palpebral fissure 32 occasional (7.5%) HP:0012745
7 short distal phalanx of finger 32 HP:0009882
8 absent toe 32 HP:0010760

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:

id Genetic test Affiliating Genes
1 Adams-Oliver Syndrome 3 29 24 EOGT

Anatomical Context for Adams-Oliver Syndrome 3

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

39
Heart, Bone, Skin, Brain

Publications for Adams-Oliver Syndrome 3

Variations for Adams-Oliver Syndrome 3

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

71
id 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
id 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
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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