MCID: ADM009
MIFTS: 21

Adams-Oliver Syndrome 4

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

Aliases & Classifications for Adams-Oliver Syndrome 4

MalaCards integrated aliases for Adams-Oliver Syndrome 4:

Name: Adams-Oliver Syndrome 4 53 71 28 69
Aos4 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype


HPO:

31
adams-oliver syndrome 4:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Adams-Oliver Syndrome 4

UniProtKB/Swiss-Prot : 71 Adams-Oliver syndrome 4: A 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.

MalaCards based summary : Adams-Oliver Syndrome 4, is also known as aos4, and has symptoms including umbilical hernia, patent ductus arteriosus and hypoplastic toenails. An important gene associated with Adams-Oliver Syndrome 4 is EOGT (EGF Domain Specific O-Linked N-Acetylglucosamine Transferase). Affiliated tissues include brain, skin and bone.

OMIM : 53 Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita and terminal transverse limb defects. Additional abnormalities may be present in other organs, e.g., heart, brain, and/or eyes (summary by Shaheen et al., 2013). For a discussion of genetic heterogeneity of Adams-Oliver syndrome (AOS), see AOS1 (100300). (615297)

Related Diseases for Adams-Oliver Syndrome 4

Symptoms & Phenotypes for Adams-Oliver Syndrome 4

Symptoms via clinical synopsis from OMIM:

53
Skin Nails Hair Nails:
hypoplastic toenails
dysplastic toenails
aplastic toenails

Cardiovascular Vascular:
patent ductus arteriosus (rare)

Head And Neck Head:
cutis aplasia of scalp

Skeletal Feet:
absent distal phalanges of some or all toes (in some patients)
absent middle phalanges of some toes (rare)
hypoplastic toes (rare)
soft tissue syndactyly (rare)

Neurologic Central Nervous System:
temporal lobe infarct (rare)
occipital lobe infarct (rare)

Cardiovascular Heart:
atrial septal defect (rare)
ventricular septal defect (rare)

Abdomen External Features:
umbilical hernia (in some patients)

Skeletal Skull:
bony defect of scalp underlying cutis aplasia (in some patients)

Skin Nails Hair Skin:
aplasia cutis of scalp
cutis marmorata (rare)
cafe-au-lait spots on chest and abdomen (rare)


Clinical features from OMIM:

615297

Human phenotypes related to Adams-Oliver Syndrome 4:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 umbilical hernia 31 occasional (7.5%) HP:0001537
2 patent ductus arteriosus 31 occasional (7.5%) HP:0001643
3 hypoplastic toenails 31 HP:0001800
4 atrial septal defect 31 occasional (7.5%) HP:0001631
5 short toe 31 occasional (7.5%) HP:0001831
6 ventricular septal defect 31 occasional (7.5%) HP:0001629
7 cutis marmorata 31 occasional (7.5%) HP:0000965
8 toenail dysplasia 31 HP:0100797

Drugs & Therapeutics for Adams-Oliver Syndrome 4

Search Clinical Trials , NIH Clinical Center for Adams-Oliver Syndrome 4

Genetic Tests for Adams-Oliver Syndrome 4

Genetic tests related to Adams-Oliver Syndrome 4:

# Genetic test Affiliating Genes
1 Adams-Oliver Syndrome 4 28 EOGT

Anatomical Context for Adams-Oliver Syndrome 4

MalaCards organs/tissues related to Adams-Oliver Syndrome 4:

38
Brain, Skin, Bone, Heart, Eye, Temporal Lobe, Occipital Lobe

Publications for Adams-Oliver Syndrome 4

Variations for Adams-Oliver Syndrome 4

UniProtKB/Swiss-Prot genetic disease variations for Adams-Oliver Syndrome 4:

71
# Symbol AA change Variation ID SNP ID
1 EOGT p.Trp207Ser VAR_070090 rs587776993
2 EOGT p.Arg377Gln VAR_070091 rs587776995

ClinVar genetic disease variations for Adams-Oliver Syndrome 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EOGT NM_001278689.1(EOGT): c.620G> C (p.Trp207Ser) single nucleotide variant Pathogenic rs587776993 GRCh37 Chromosome 3, 69053529: 69053529
2 EOGT NM_001278689.1(EOGT): c.1074delA (p.Gly359Aspfs) deletion Pathogenic/Likely pathogenic rs587776994 GRCh37 Chromosome 3, 69037455: 69037455
3 EOGT NM_001278689.1(EOGT): c.1130G> A (p.Arg377Gln) single nucleotide variant Pathogenic rs587776995 GRCh37 Chromosome 3, 69036618: 69036618

Expression for Adams-Oliver Syndrome 4

Search GEO for disease gene expression data for Adams-Oliver Syndrome 4.

Pathways for Adams-Oliver Syndrome 4

GO Terms for Adams-Oliver Syndrome 4

Sources for Adams-Oliver Syndrome 4

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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