MCID: ADM008
MIFTS: 20

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 57 75 29 13 6 73
Aos3 57 75
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:



Summaries for Adams-Oliver Syndrome 3

UniProtKB/Swiss-Prot : 75 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 microcephaly

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

Symptoms & Phenotypes for Adams-Oliver Syndrome 3

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

Human phenotypes related to Adams-Oliver Syndrome 3:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 occasional (7.5%) HP:0001263
2 microcephaly 32 HP:0000252
3 blepharophimosis 32 occasional (7.5%) HP:0000581
4 short distal phalanx of finger 32 HP:0009882
5 absent toe 32 HP:0010760
6 short palpebral fissure 32 occasional (7.5%) HP:0012745
7 2-3 toe syndactyly 32 HP:0004691
8 short metatarsal 32 HP:0010743
9 aplasia cutis congenita 32 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 29 RBPJ

Anatomical Context for Adams-Oliver Syndrome 3

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

41
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:

75
# 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

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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